Masashi Akiyama
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Computer Science
Masashi Akiyama's Degrees
- PhD Computer Science University of Tokyo
- Masters Computer Science University of Tokyo
- Bachelors Computer Science University of Tokyo
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(Suggest an Edit or Addition)Masashi Akiyama's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. (2010) (644)
- Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. (2005) (362)
- Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (2003) (337)
- Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation (2016) (260)
- The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist. (2013) (251)
- Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (2007) (228)
- Hair follicle stem cells. (2003) (200)
- Clinical severity correlates with impaired barrier in filaggrin-related eczema. (2009) (167)
- Humanization of autoantigen (2007) (153)
- Prevalence of dermatological disorders in Japan: A nationwide, cross‐sectional, seasonal, multicenter, hospital‐based study (2011) (152)
- FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics (2010) (146)
- Inherited ichthyosis: Non‐syndromic forms (2016) (143)
- Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. (2008) (135)
- Impaired Epidermal Permeability Barrier in Mice Lacking Elovl1, the Gene Responsible for Very-Long-Chain Fatty Acid Production (2013) (133)
- Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation (2015) (127)
- Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions. (2003) (127)
- Patients With Antithyroid Antibodies Are Prone To Develop Destructive Thyroiditis by Nivolumab: A Prospective Study (2018) (118)
- Japanese guidelines for the management and treatment of generalized pustular psoriasis: The new pathogenesis and treatment of GPP (2018) (114)
- Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. (2008) (106)
- Correlation of clinical severity and ELISA indices for the NC16A domain of BP180 measured using BP180 ELISA kit in bullous pemphigoid. (2005) (105)
- PDGF isoforms induce and maintain anagen phase of murine hair follicles. (2006) (105)
- Dietary glucosylceramide improves skin barrier function in hairless mice. (2006) (105)
- ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts a (2010) (102)
- CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort. (2014) (101)
- Cutaneous Manifestations in Dermatomyositis: Key Clinical and Serological Features—a Comprehensive Review (2016) (101)
- Intratumoral expression levels of PD-L1, GZMA, and HLA-A along with oligoclonal T cell expansion associate with response to nivolumab in metastatic melanoma (2016) (98)
- Filaggrin gene defects and the risk of developing allergic disorders. (2011) (96)
- Disappearance of anti-MDA-5 autoantibodies in clinically amyopathic DM/interstitial lung disease during disease remission. (2012) (94)
- The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis (2003) (93)
- Characterization of hair follicle bulge in human fetal skin: the human fetal bulge is a pool of undifferentiated keratinocytes. (1995) (92)
- Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination. (2002) (92)
- An update on molecular aspects of the non‐syndromic ichthyoses (2008) (91)
- Growth factor and growth factor receptor localization in the hair follicle bulge and associated tissue in human fetus. (1996) (89)
- Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. (2006) (89)
- A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: possible immunological state of the intrinsic type. (2012) (86)
- Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. (2003) (86)
- Autoinflammatory keratinization diseases. (2017) (85)
- Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy (2007) (82)
- Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa. (2006) (80)
- Changing patterns of localization of putative stem cells in developing human hair follicles. (2000) (80)
- Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. (2006) (79)
- Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis. (2017) (77)
- Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. (2008) (74)
- Dissociation of intra‐ and extracellular domainsof desmosomal cadherins and E‐cadherin inHailey–Hailey disease and Darier’s disease (2000) (73)
- FLG mutation p.Lys4021X in the C‐terminal imperfect filaggrin repeat in Japanese patients with atopic eczema (2009) (72)
- Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory (2015) (70)
- Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes (2007) (70)
- Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma (2012) (69)
- Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. (2006) (69)
- Epidemiologic study of clinically amyopathic dermatomyositis and anti-melanoma differentiation-associated gene 5 antibodies in central Japan (2011) (68)
- Periderm cells form cornified cell envelope in their regression process during human epidermal development. (1999) (68)
- Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients (2013) (67)
- The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. (2014) (65)
- Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR (2014) (65)
- Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. (2003) (64)
- A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult‐onset generalized pustular psoriasis (2012) (63)
- Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice (2010) (63)
- Solitary cutaneous malignant schwannoma. Immunohistochemical and ultrastructural studies. (1993) (61)
- Type XVII collagen is a key player in tooth enamel formation. (2009) (60)
- Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations (2017) (59)
- Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin. (2018) (59)
- Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA‐PLA1α in autosomal recessive hypotrichosis (2010) (55)
- Late-Onset Fulminant Myocarditis With Immune Checkpoint Inhibitor Nivolumab. (2018) (55)
- Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma (2015) (55)
- A Novel Active Mouse Model for Bullous Pemphigoid Targeting Humanized Pathogenic Antigen (2010) (54)
- Expression of RNA-binding protein Musashi in hair follicle development and hair cycle progression. (2006) (54)
- Impact of next generation sequencing on diagnostics in a genetic skin disease clinic (2013) (53)
- Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome. (2010) (53)
- DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. (2007) (52)
- The pathogenesis of severe congenital ichthyosis of the neonate. (1999) (52)
- Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells. (1994) (52)
- Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection (2005) (52)
- Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations (2014) (51)
- Nivolumab for the treatment of malignant melanoma in a patient with pre-existing myasthenia gravis (2016) (51)
- Plectin defects in epidermolysis bullosa simplex with muscular dystrophy (2007) (50)
- Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. (2009) (50)
- Pituitary dysfunction induced by immune checkpoint inhibitors is associated with better overall survival in both malignant melanoma and non-small cell lung carcinoma: a prospective study (2020) (49)
- Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity. (2006) (49)
- Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome (2014) (49)
- Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen: case report and review of the literature (2006) (49)
- Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. (2010) (49)
- Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. (2007) (48)
- Embryonic hair follicle fate change by augmented β-catenin through Shh and Bmp signaling (2009) (48)
- Clinical features of anti-TIF1-α antibody-positive dermatomyositis patients are closely associated with coexistent dermatomyositis-specific autoantibodies and anti-TIF1-γ or anti-Mi-2 autoantibodies. (2012) (48)
- Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia (2017) (47)
- Small-diameter porous poly (epsilon-caprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells. (2007) (46)
- Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. (2010) (46)
- High expression of Ki-67 and cyclin D1 in invasive extramammary Paget's disease. (2008) (45)
- Development of an ELISA for detection of autoantibodies to nuclear matrix protein 2. (2012) (45)
- A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa (2013) (44)
- Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations (2009) (44)
- Malignant skin tumours in patients with inherited ichthyosis (2011) (44)
- Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma (2001) (43)
- Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses (1998) (43)
- High incidence of cancer in anti-small ubiquitin-like modifier activating enzyme antibody-positive dermatomyositis. (2015) (43)
- Changes in Gap Junction Distribution and Connexin Expression Pattern During Human Fetal Skin Development (2002) (42)
- Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. (2007) (42)
- Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease. (2013) (42)
- UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES (2011) (42)
- Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis (2005) (42)
- The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis (2011) (41)
- SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation. (2020) (41)
- Expression of transglutaminase activity in developing human epidermis (2000) (41)
- Oesophageal involvement in pemphigus vulgaris (1999) (41)
- A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. (2006) (40)
- Human bullous pemphigoid antigen 2 transgenic skin elicits specific IgG in wild-type mice. (2007) (40)
- Ultrastructural Orientation of Laminin 5 in the Epidermal Basement Membrane: an Updated Model for Basement Membrane Organization 1 (2003) (39)
- Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing (2005) (39)
- Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex (2010) (39)
- Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development (2020) (38)
- The extracellular domain of BPAG2 has a loop structure in the carboxy terminal flexible tail in vivo. (2000) (38)
- Limitations of a single-point evaluation of anti-MDA5 antibody, ferritin, and IL-18 in predicting the prognosis of interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis (2013) (38)
- Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. (2007) (37)
- Changing pattern of deiminated proteins in developing human epidermis. (2003) (36)
- Low Prevalence of Anti-DFS70/LEDGF Antibodies in Patients with Dermatomyositis and Other Systemic Autoimmune Rheumatic Diseases (2013) (36)
- Nail dystrophy and blisters as sole manifestations in myeloma-associated amyloidosis. (2006) (36)
- Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects (2019) (36)
- Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA. (2017) (36)
- Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. (2016) (36)
- Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis (2011) (35)
- IL36RN mutations underlie impetigo herpetiformis. (2014) (35)
- Familial linear and whorled nevoid hypermelanosis. (1994) (34)
- Carcinomatous transformation of eccrine syringofibroadenoma (2003) (34)
- The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. (2007) (33)
- Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38MAPK-dependent migration and cell signaling. (2009) (33)
- A New ELISA for Dermatomyositis Autoantibodies: Rapid Introduction of Autoantigen cDNA to Recombinant Assays for Autoantibody Measurement (2013) (32)
- Successful treatment of nail lichen planus with topical tacrolimus. (2010) (32)
- Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks' estimated gestational age (1999) (31)
- ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. (2009) (31)
- A novel mutation in the VDR gene in hereditary vitamin D‐resistant rickets (2007) (31)
- Generalized pustular psoriasis caused by deficiency of interleukin‐36 receptor antagonist successfully treated with granulocyte and monocyte adsorption apheresis (2014) (31)
- Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. (2004) (31)
- Strong correlation between cancer progression and anti-transcription intermediary factor 1γ antibodies in dermatomyositis patients. (2018) (30)
- Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima‐type palmoplantar keratosis (2014) (30)
- Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. (2017) (29)
- Formation of cornified cell envelope in human hair follicle development (2002) (29)
- Successful treatment with infliximab of sibling cases with generalized pustular psoriasis caused by deficiency of interleukin‐36 receptor antagonist (2015) (29)
- Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. (2010) (29)
- Severe congenital ichthyosis of the neonate (1998) (29)
- CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. (2008) (29)
- Two cases of atypical membranous aplasia cutis with hair collar sign: one with dermal melanocytosis, and the other with naevus flammeus (2005) (28)
- ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation. (2010) (28)
- Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1. (2016) (28)
- Characterization of Kdap, a protein secreted by keratinocytes. (2004) (28)
- Anti-thyroid antibodies and thyroid echo pattern at baseline as risk factors for thyroid dysfunction induced by anti-programmed cell death-1 antibodies: a prospective study (2020) (28)
- Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. (2001) (27)
- Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute. (2010) (27)
- Detection of 1733insC mutations in an Asian family with Birt–Hogg–Dubé syndrome (2005) (27)
- Prenatal exclusion of harlequin ichthyosis; potential pitfalls in the timing of the fetal skin biopsy (2005) (27)
- Real world data of liver injury induced by immune checkpoint inhibitors in Japanese patients with advanced malignancies (2020) (27)
- Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait (2015) (26)
- Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation (2017) (26)
- Acute generalized exanthematous pustulosis caused by dihydrocodeine phosphate in a patient with psoriasis vulgaris and a heterozygous IL36RN mutation. (2015) (26)
- Bacterial infection‐induced generalized Hailey–Hailey disease successfully treated by etretinate (2006) (26)
- Extensive proliferative nodules in a case of giant congenital naevus (2008) (26)
- Upregulation of P‐cadherin expression in the lesional skin of pemphigus, Hailey‐Hailey disease and Darier’s disease (2001) (26)
- Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation. (2009) (26)
- Arteriovenous haemangioma in chronic liver disease: clinical and histopathological features of four cases (2001) (25)
- Ultrastructural localization of pemphigus vulgaris and pemphigus foliaceus antigens in cultured human squamous carcinoma cells (1991) (25)
- Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family (2015) (25)
- Epidermolysis bullosa acquisita associated with psoriasis vulgaris (2007) (24)
- Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome. (2021) (24)
- Girdin/GIV regulates collective cancer cell migration by controlling cell adhesion and cytoskeletal organization (2018) (24)
- Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7 (2017) (24)
- Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis (1996) (24)
- Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts. (2017) (23)
- Hair follicle stem cell-targeted gene transfer and reconstitution system (2006) (23)
- Direct injection of plasmid DNA into the skin induces dermatitis by activation of monocytes through toll‐like receptor 9 (2005) (23)
- Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. (2008) (23)
- CD8+ cutaneous anaplastic large‐cell lymphoma: report of two cases with immunophenotyping, T‐cell‐receptor gene rearrangement and electron microscopic studies (1992) (23)
- More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations (2019) (22)
- Gap junction development in the human fetal hair follicle and bulge region (2004) (22)
- Severe generalized deep dermatophytosis due to Trichophyton rubrum (trichophytic granuloma) in a patient with atopic dermatitis. (2004) (22)
- DNA-based prenatal exclusion of harlequin ichthyosis. (2008) (22)
- Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. (2015) (22)
- Syndromic inherited poikiloderma due to a de novo mutation in FAM111B (2017) (22)
- Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis (2014) (22)
- Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis. (2013) (22)
- A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. (2007) (22)
- Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. (2007) (21)
- Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. (2013) (21)
- Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma (2008) (21)
- Eccrine porocarcinoma and Bowen's disease arising in a seborrhoeic keratosis (2006) (21)
- Colocalization of Multiple Laminin Isoforms Predominantly beneath Hemidesmosomes in the Upper Lamina Densa of the Epidermal Basement Membrane (2006) (21)
- A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype (2003) (20)
- Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts. (2012) (20)
- Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations (2010) (20)
- Generalized pustular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations: comment on the article by Navarini et al. (2014) (20)
- Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period. (1994) (19)
- Direct injection of naked DNA and cytokine transgene expression: implications for keratinocyte gene therapy (2002) (19)
- DNA mismatch repair enzymes: genetic defects and autoimmunity. (2015) (19)
- Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1. (2012) (19)
- Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan (2015) (19)
- A novel ABCA12 mutation 3270delT causes harlequin ichthyosis (2006) (19)
- Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. (2013) (19)
- Eccrine porocarcinoma and eccrine poroma arising in a scar (2004) (19)
- A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease (2019) (19)
- An infantile case of pityriasis lichenoides et varioliformis acuta (2007) (18)
- Autoinflammatory Keratinization Diseases (AiKDs): Expansion of Disorders to Be Included (2020) (18)
- Brief Report: Autoantibodies to DNA Mismatch Repair Enzymes in Polymyositis/Dermatomyositis and Other Autoimmune Diseases: A Possible Marker of Favorable Prognosis (2014) (18)
- Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens (2007) (18)
- DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. (2004) (18)
- Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ) (2015) (18)
- Early-onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases. (2019) (18)
- Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. (1997) (18)
- Compound Heterozygous ABCA12 Mutations Including a Novel Nonsense Mutation Underlie Harlequin Ichthyosis (2007) (18)
- Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss (2009) (17)
- High survival rate of harlequin ichthyosis in Japan. (2014) (17)
- Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). (2013) (17)
- Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies. (2003) (17)
- Nail deformity associated with hereditary multiple exostoses. (2005) (17)
- Epidermolysis bullosa: directions for future research and new challenges for treatment (2003) (17)
- Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants (2005) (17)
- Certolizumab pegol, a pegylated anti‐TNF‐α antagonist, caused de novo‐onset palmoplantar pustulosis followed by generalized pustular psoriasis in a patient with rheumatoid arthritis (2017) (17)
- New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis. (2011) (17)
- Dipeptidyl Peptidase-4 Inhibitor-associated Bullous Pemphigoid: Recurrence with Epitope Spreading. (2018) (16)
- Familial or sporadic porokeratosis as an autoinflammatory keratinization disease (2018) (16)
- Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis. (2010) (16)
- Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (1992) (16)
- Hand, Foot, and Mouth Disease in an Adult. (2018) (16)
- Postoperative DAV‐IFN‐β therapy does not improve survival rates of stage II and stage III melanoma patients significantly (2013) (15)
- Three‐base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease (2010) (15)
- Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood (2013) (15)
- Impetigo herpetiformis with IL36RN mutations in a Chinese patient: A founder haplotype of c.115+6T>C in East Asia. (2015) (15)
- Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis. (2011) (15)
- A case of lichen amyloidosis treated with pulsed dye laser (2005) (15)
- A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma. (2001) (15)
- Recurrence of hydroxyurea-induced leg ulcer after discontinuation of treatment. (2011) (15)
- A Severe and Refractory Case of Anti-p200 Pemphigoid Resulting in Multiple Skin Ulcers and Scar Formation (2008) (15)
- Angiosarcoma with dermal melanocytosis (1989) (15)
- Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN (2017) (15)
- Dowling–Degos disease with mutations in POFUT1 is clinicopathologically distinct from reticulate acropigmentation of Kitamura (2015) (14)
- Neutrophil extracellular traps are induced in a psoriasis model of interleukin-36 receptor antagonist-deficient mice (2020) (14)
- Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. (1998) (14)
- Microsatellite-based genotyping of Candida albicans isolated from patients with superficial candidiasis. (2011) (14)
- Lectin‐binding sites in clear cell acanthoma (1990) (14)
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations (2014) (14)
- Glycosylation Specific for Adhesion Molecules in Epidermis and Its Receptor Revealed by Glycoform-focused Reverse Genomics *S (2009) (14)
- Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome (2018) (14)
- Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2 (2015) (14)
- Immunohistochemical Characterization of Human Cutaneous Mast Cells in Urticaria Pigmentosa (Cutaneous Mastocytosis) (1991) (14)
- Altered lipid profiles in the stratum corneum of Sjögren-Larsson syndrome. (2011) (14)
- Squamous cell carcinoma in a patient with non‐bullous congenital ichthyosiform erythroderma (2003) (13)
- Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation. (2016) (13)
- Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation. (2019) (13)
- Clinical practice guide for the treatment of perforating dermatosis (2020) (13)
- Intravenous allogeneic multilineage‐differentiating stress‐enduring cells in adults with dystrophic epidermolysis bullosa: a phase 1/2 open‐label study (2021) (13)
- Possible roles of barrier-to-autointegration factor 1 in regulation of keratinocyte differentiation and proliferation. (2013) (13)
- A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient (2018) (13)
- Overlap of systemic lupus erythematosus and myositis is rare in anti-Ku antibody-positive patients (2019) (13)
- Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update. (2019) (13)
- Clinicopathological analysis of 46 cases with CD4+ and/or CD56+ immature haematolymphoid malignancy: reappraisal of blastic plasmacytoid dendritic cell and related neoplasms (2017) (13)
- Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. (2005) (13)
- Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency[S] (2018) (13)
- Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis (2017) (12)
- HMGCR antibody-associated myopathy as a paraneoplastic manifestation of esophageal carcinoma (2016) (12)
- Anticentromere antibody-positive primary Sjögren's syndrome: Epitope analysis of a subset of anticentromere antibody-positive patients (2017) (12)
- Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome. (2006) (12)
- Extraordinarily long linear cutaneous lupus erythematosus along the lines of Blaschko. (2013) (12)
- TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome. (2015) (12)
- Exploration of biomarkers to predict clinical improvement of atopic dermatitis in patients treated with dupilumab (2020) (12)
- A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. (2017) (12)
- Pyoderma Gangrenosum of the Eyelid: Report of Two Cases and Review of the Literature (2010) (12)
- Extensive Multiple Organ Involvement in VEXAS Syndrome (2021) (12)
- Prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin (1994) (12)
- Annular Elastolytic Giant Cell Granuloma Successfully Treated with Minocycline Hydrochloride. (2015) (12)
- Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis. (2000) (12)
- The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis. (2012) (12)
- Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma (2019) (12)
- Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. (2016) (12)
- Eccrine syringofibroadenoma developing in a sebaceous naevus (2000) (12)
- A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing (2011) (11)
- A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with Hailey-Hailey disease. (2013) (11)
- A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene (2014) (11)
- Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. (2010) (11)
- Proposed classification of longitudinal melanonychia based on clinical and dermoscopic criteria (2014) (11)
- Varicella zoster virus-associated generalized pustular psoriasis in a baby with heterozygous IL36RN mutation. (2014) (11)
- A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline. (2017) (11)
- Spitz naevus of the glans penis: an unusual location. (2004) (11)
- A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. (2000) (11)
- Conradi–Hünermann–Happle syndrome with abnormal lamellar granule contents (2009) (11)
- Detection of autoantibodies to periplakin and envoplakin in paraneoplastic pemphigus but not idiopathic pulmonary fibrosis using full-length recombinant proteins. (2014) (11)
- Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation. (2011) (11)
- Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation (2017) (11)
- Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis (2020) (11)
- Annular pustular psoriasis with a heterozygous IL36RN mutation (2015) (11)
- Novel adenosine triphosphate (ATP)‐binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma (2012) (11)
- Childhood-onset PsA in Down syndrome with psoriasis susceptibility variant CARD14 rs11652075. (2015) (11)
- IL-36 receptor antagonist deficiency resulted in delayed wound healing due to excessive recruitment of immune cells (2020) (10)
- Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation (2009) (10)
- Frequent FOXA1-Activating Mutations in Extramammary Paget’s Disease (2020) (10)
- A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing. (2016) (10)
- Acylceramide is a key player in skin barrier function: insight into the molecular mechanisms of skin barrier formation and ichthyosis pathogenesis (2020) (10)
- A Clinical and Histological Study of Urticaria Pigmentosa: Relationships between Mast Cell Proliferation and the Clinical and Histological Manifestations (1990) (10)
- Extraordinarily large, giant spider angioma in an alcoholic cirrhotic patient (2014) (10)
- Annular epidermolytic ichthyosis. (1999) (10)
- Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. (2015) (10)
- Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link? (2013) (10)
- Serum thymus and activation‐regulated chemokine (TARC/CCL17) levels reflect the disease activity in a patient with bullous pemphigoid (2016) (10)
- Establishment of an ELISA to detect anti-glycyl-tRNA synthetase antibody (anti-EJ), a serological marker of dermatomyositis/polymyositis and interstitial lung disease. (2014) (10)
- Immunohistochemical and Ultrastructural Studies (1993) (10)
- Prognosis of dysphagia in dermatomyositis. (2019) (10)
- Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients (2005) (10)
- Keratotic lesions in epidermolysis bullosa simplex with mottled pigmentation. (2005) (10)
- Annular Lichen planus: Study of the Cellular Mechanisms of Annularity (2004) (10)
- Causative drug detection by drug‐induced lymphocyte stimulation test in drug‐induced linear IgA bullous dermatosis (2016) (9)
- Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia (2017) (9)
- Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia. (2015) (9)
- Current advances in gene therapy for the treatment of genodermatoses. (2009) (9)
- Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis. (2014) (9)
- Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma before occurrence of Merkel cell carcinoma. (2011) (9)
- The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon–Lefèvre syndrome with all permanent teeth remaining at over 40 years of age (2013) (9)
- Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A–I editing efficiency of ADAR1 mutants and phenotype expression (2018) (9)
- Japanese real‐world study of sequential nivolumab and ipilimumab treament in melanoma (2019) (9)
- Impetigo herpetiformis with IL-36RN mutation successfully treated with secukinumab (2018) (9)
- TAK-242 ameliorates contact dermatitis exacerbated by IL-36 receptor antagonist deficiency (2020) (9)
- Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia. (2017) (9)
- Coexistence of pustular and vegetative pyoderma gangrenosum in a patient with myelodysplastic syndrome. (2012) (9)
- Autoantibodies to nuclear matrix protein 2/MJ in adult-onset dermatomyositis with severe calcinosis. (2012) (9)
- Hereditary benign telangiectasia: two families with punctate telangiectasias surrounded by anemic halos. (2010) (9)
- Transglutaminase and major cornified cell envelope precursor proteins, loricrin, small proline-rich proteins 1 and 2, and involucrin are coordinately expressed in the sites defined to form hair canal in developing human hair follicle. (1999) (9)
- Next generation diagnostics of heritable connective tissue disorders. (2014) (9)
- Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes. (2018) (8)
- Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6. (2014) (8)
- AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes. (2011) (8)
- DNA‐based prenatal diagnosis of plectin‐deficient epidermolysis bullosa simplex associated with pyloric atresia (2011) (8)
- Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin‐5 (2016) (8)
- COL7A1 mutation G2037E causes epidermal retention of type VII collagen (2006) (8)
- KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease (2020) (8)
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis. (2016) (8)
- Dermoscopic features of endocrine mucin‐producing sweat gland carcinoma (2018) (8)
- Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children (2018) (8)
- Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma (2013) (8)
- What autoantibody tests should become widely available to help scleroderma diagnosis and management? (2013) (8)
- Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis. (2015) (8)
- Expression of transglutaminase 1 (transglutaminase K) in harlequin ichthyosis (1997) (8)
- Paraneoplastic pemphigus with anti-laminin-332 autoantibodies in a patient with follicular dendritic cell sarcoma. (2013) (8)
- Nationwide Cross-sectional and Seasonal Multicenter Study of Dermatological Patients in Japan (2009) (7)
- Granulomatous pigmented purpuric dermatosis containing Propionibacterium acnes (2018) (7)
- Loss‐of‐function mutations in the gene encoding filaggrin underlie a Japanese family with food‐dependent exercise‐induced anaphylaxis (2015) (7)
- Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall. (2015) (7)
- Mutational analysis of 29 patients with autosomal‐recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal‐recessive woolly hair and hypotrichosis in Japan (2017) (7)
- Clinicopathologic analysis of 66 Japanese thin melanomas with metastasis of sentinel or regional lymph node (2013) (7)
- Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria (2012) (7)
- Higher density of label-retaining cells in gingival epithelium. (2009) (7)
- Immune recognition of lysyl-tRNA synthetase and isoleucyl-tRNA synthetase by anti-OJ antibody-positive sera. (2021) (7)
- Autoantibodies to Su/Argonaute 2 in Japanese patients with inflammatory myopathy. (2017) (7)
- Novel and recurrent ATP2A2 mutations in Japanese patients with Darier’s disease (2016) (7)
- Buruli Ulcer Successfully Treated With Negative-Pressure Wound Therapy. (2015) (7)
- Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations. (2015) (7)
- Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup. (2018) (7)
- Differential pathomechanisms of desmoglein-1 transmembrane domain mutations in skin disease. (2021) (7)
- Ultrastructural localization of autoantigens of intercellular IgA vesiculopustular dermatosis in cultured human squamous cell carcinoma cells (2004) (7)
- Filaggrin: an emerging star in atopic march. (2008) (7)
- Editorial: Autoinflammatory Keratinization Disease (AiKD) (2020) (7)
- Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families (2014) (7)
- Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis (2003) (7)
- A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains. (2013) (7)
- Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. (2017) (6)
- Immediate response to apremilast in patients with palmoplantar pustulosis: a retrospective pilot study (2021) (6)
- Extraordinarily Large Calcifying Epithelioma without Aggressive Behavior (2001) (6)
- Darier's disease restricted to sun‐exposed areas (2004) (6)
- Marked and restricted cutaneous pigmentation induced by selective intra-arterial cisplatin infusion. (2006) (6)
- Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. (2014) (6)
- Atopic dermatitis without serum immunoglobulin E elevation or loss‐of‐function filaggrin gene mutation in a patient with X‐linked agammaglobulinemia (2019) (6)
- The lipoxygenase‐hepoxilin pathway is activated in cutaneous plaque lesions of psoriasis (2018) (6)
- A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation. (2017) (6)
- Coexistent urticaria pigmentosa, acromegaly and acanthosis nigricans. (1991) (6)
- Pustular psoriasis as an autoinflammatory keratinization disease (AiKD): Genetic predisposing factors and promising therapeutic targets. (2021) (6)
- Abscopal Effect of Local Irradiation Treatment for Diffuse Large B-cell Lymphoma. (2017) (6)
- LEDGF/DFS70 activates the MK2/IL6/STAT3 pathway in HaCaT. (2011) (6)
- Aberrant CARD14 function might cause defective barrier formation. (2019) (6)
- Non-infectious Panniculitis during Hydroxyurea Therapy in a Patient with Myeloproliferative Disease. (2016) (6)
- Bloody nipple discharge in an infant. (2009) (6)
- Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. (2011) (6)
- Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10 (2016) (6)
- Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations (2015) (6)
- Lymphatic flow is mostly preserved after sentinel lymph node biopsy in primary cutaneous malignant melanoma. (2015) (6)
- Clinical characteristics of gastrointestinal immune-related adverse events of immune checkpoint inhibitors and their association with survival (2021) (6)
- Clinical significance of anti-NOR90 antibodies in systemic sclerosis and idiopathic interstitial pneumonia. (2021) (6)
- Cutaneous ischemia‐reperfusion injury is exacerbated by IL‐36 receptor antagonist deficiency (2021) (6)
- The use of ELISA to detect desmoglein antibodies in a pregnant woman and fetus. (2003) (6)
- Symmetrical giant facial plaque-type juvenile xanthogranuloma persisting beyond 10 years of age. (2014) (6)
- Deficiency of the interleukin‐36 receptor antagonist dramatically improved by secukinumab (2018) (6)
- Precursor B-cell lymphoblastic lymphoma presented with intraocular involvement and unusual skin manifestations (2008) (5)
- Do pigmented naevi in albinism provide evidence of tyrosinase positivity? (1992) (5)
- Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis (2020) (5)
- Peroxidase activity in mast cell granules in urticaria pigmentosa. (1989) (5)
- Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: A case report (2016) (5)
- Pembrolizumab-induced psoriasis vulgaris successfully treated with apremilast (2020) (5)
- Porokeratotic eccrine ostial and dermal duct nevus with a somatic homozygous or monoallelic variant of connexin 26. (2015) (5)
- Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris (2015) (5)
- Medical genetics: An Indian family with Sjögren‐Larsson syndrome caused by a novel ALDH3A2 mutation (2010) (5)
- Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult‐onset Still's disease (2017) (5)
- Cryptococcal cellulitis in a patient with bullous pemphigoid. (2013) (5)
- Low‐grade myxofibrosarcoma invaded into the underlying skeletal muscle (2007) (5)
- A juvenile male case of dermatofibrosarcoma protuberans on the breast (2019) (5)
- Unilaterally dominant eosinophilic fasciitis after influenza vaccination. (2013) (5)
- Understanding immune profiles in ichthyosis may lead to novel therapeutic targets. (2022) (5)
- Anti-Zo antibodies in Japanese myositis patients detected by a newly developed ELISA. (2020) (5)
- Myocardial Vasculitis Associated With the Immune Checkpoint Inhibitor Pembrolizumab (2020) (5)
- Hair graying with aging in mice carrying oncogenic RET (2020) (5)
- High-avidity IgG Autoantibodies against DFS70/LEDGF in Atopic Dermatitis (2013) (5)
- Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing (2017) (5)
- A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation. (2019) (5)
- Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment. (2008) (5)
- Pustular psoriasis‐like lesions associated with hereditary lactate dehydrogenase M subunit deficiency without interleukin‐36 receptor antagonist mutation: long‐term follow‐up of two cases (2015) (5)
- Extraordinarily large protruding accessory breast cancer in a man. (2012) (5)
- A subcutaneous tumor on the forehead of a 12-year-old child: a rare clinical presentation of a frontal mucocele. (2004) (5)
- A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family. (2009) (5)
- CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development. (2012) (5)
- Nuclear envelope localization of Ran‐binding protein 2 and Ran‐GTPase‐activating protein 1 in psoriatic epidermal keratinocytes (2014) (5)
- Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants. (2020) (5)
- A patient with bullous pemphigoid with mucosal involvement serologically positive for anti‐BP230 autoantibodies only (2019) (4)
- Drug‐induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient (2019) (4)
- Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma. (2021) (4)
- Annular erythema associated with Sjögren's syndrome preceding overlap syndrome of rheumatoid arthritis and polymyositis with anti-PL-12 autoantibodies. (2014) (4)
- Spindle cell carcinoma of the breast in a patient with neurofibromatosis type 1 (2014) (4)
- Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations (2018) (4)
- Case of mild X‐linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia (2018) (4)
- Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations (2016) (4)
- Oesophageal involvement in pemphigus vulgaris (2000) (4)
- Anti-dense Fine Speckled 70 Autoantibodies in Japanese Children with Dermatomyositis, Localized Scleroderma, and Idiopathic Arthritis with Iridocyclitis (2017) (4)
- Indeterminate dendritic cell neoplasm accompanied by eosinophilic pneumonia successfully treated by systemic steroid therapy: Report of the first case with muscular and parotid involvement and review of published work (2018) (4)
- Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe. (2013) (4)
- A novel PTPN11 missense mutation in a patient with LEOPARD syndrome (2009) (4)
- Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism. (2021) (4)
- Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1. (2008) (4)
- Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation. (2017) (4)
- Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues. (2015) (4)
- Two cases of generalized pustular psoriasis complicated by IgG4‐related disease (2018) (4)
- Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function. (2016) (4)
- A patient with CARD14‐associated papulosquamous eruptions showing atopic dermatitis‐like features (2020) (4)
- Cytomegalovirus reactivation accompanied by varicella zoster virus reactivation or reinfection in an adult patient of multiple myeloma during bortezomib therapy (2018) (4)
- Annular Sarcoidosis with Geographic Appearance in a Patient with Systemic Sarcoidosis (2020) (4)
- Hailey‐Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride (2018) (4)
- Subacute cutaneous lupus erythematosus with melanocyte elimination induced by pembrolizumab (2020) (4)
- Morphological analyses in fragility of pili torti with Björnstad syndrome (2017) (4)
- Adult Staphylococcal Scalded Skin Syndrome Successfully Treated with Multimodal Therapy Including Intravenous Immunoglobulin. (2018) (4)
- Hyper‐IgE syndrome with a novel mutation of the STAT3 gene (2016) (4)
- Angiofibroma of Soft Tissue on the Cheek: Diagnosis Confirmed by Gene Rearrangement in NCOA2. (2017) (4)
- Ultrastructural localization of Brazilian pemphigus foliaceus (fogo seivagem) antigens in cultured human squamous cell carcinoma cells (1993) (4)
- Increased risk of thyroid dysfunction by PD-1 and CTLA-4 blockade in patients without thyroid autoantibodies at baseline. (2021) (4)
- Cutaneous lupus mucinosis successfully treated with systemic corticosteroid and systemic tacrolimus combination therapy. (2013) (4)
- Low prevalence of autoantibodies to CENP-H, -I, -K, -L, -M, -N, -T and -U in a Japanese cohort of anti-centromere positive samples (2013) (4)
- Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations (2016) (4)
- Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain. (2003) (3)
- UVB-Induced Skin Autoinflammation Due to Nlrp1b Mutation and Its Inhibition by Anti-IL-1β Antibody (2022) (3)
- Clinical utility of botulinum toxin type A local injection therapy for head and forehead hyperhidrosis (2022) (3)
- Ripple‐pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation (2017) (3)
- Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome. (2013) (3)
- What are the "true" pathogenic anti-desmoglein antibodies? (2015) (3)
- Lymphocyte infiltration of the skin in transgenic mice carrying the human interleukin-2 gene (2004) (3)
- Possible modifier effects of keratin 17 gene mutation on keratitis–ichthyosis–deafness syndrome (2012) (3)
- Epidermolysis Bullosa (EB) - Diagnosis and Therapy (2009) (3)
- A case of recurrent Stevens-Johnson syndrome caused by nivolumab therapy. (2019) (3)
- Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria (2018) (3)
- Mild case of Hailey–Hailey disease caused by a novel ATP2C1 mutation (2018) (3)
- Successful treatment with i.v. immunoglobulin and rituximab for bronchiolitis obliterans associated with paraneoplastic pemphigus (2020) (3)
- A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris (2014) (3)
- Infiltration of activated eosinophils in the skin lesions of atopic dermatitis. (2001) (3)
- Mild Hailey–Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light (2018) (3)
- Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies (2021) (3)
- Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population. (2010) (3)
- Childhood subepidermal blistering disease with autoantibodies to type VII collagen and laminin‐332 (2011) (3)
- The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis (2015) (3)
- A novel ATP2A2 missense mutation p.Asp254Gly in Darier disease restricted to the extremities. (2008) (3)
- Dyschromatosis Symmetrica Hereditaria and RNA Editing Enzyme (2013) (3)
- Dyshidrosiform pemphigoid restricted to the soles (2018) (3)
- Pustular psoriasis occurring after total colectomy for ulcerative colitis and relieved by administration of infliximab (2014) (3)
- Two novel anti-aminoacyl tRNA synthetase antibodies: Autoantibodies against cysteinyl-tRNA synthetase and valyl-tRNA synthetase. (2022) (3)
- Disappearance of circulating autoantibodies to RNA polymerase III in a patient with systemic sclerosis successfully treated with corticosteroid and methotrexate (2015) (3)
- University of Dundee Mutations in GRHL 2 result in an autosomal-recessive ectodermal dysplasia syndrome (3)
- Successful treatment of pustulotic arthro-osteitis with apremilast: a case report with follow-up MRI (2019) (3)
- Association of infantile cutaneous haemangioma on the face and neck with respiratory distress in infancy. (2003) (3)
- Rapid increase of serum anti‐MDA‐5 antibodies and exacerbation of clinically amyopathic dermatomyositis/interstitial lung disease (2017) (3)
- Pectoral nerve blocks are useful for axillary sentinel lymph node biopsy in malignant tumors on the upper extremities (2017) (3)
- Multiple skin metastases of amelanotic melanoma originating from the sinonasal mucosa. (2005) (3)
- Anti‐Mi‐2 antibody titers and cutaneous manifestations in dermatomyositis (2019) (3)
- A solid variant of primary cutaneous cribriform carcinoma: a small, stable, long-term lesion (2017) (3)
- Anti‐transcription intermediary factor 1‐γ antibody‐positive clinically amyopathic dermatomyositis complicated by interstitial lung disease and breast cancer (2016) (3)
- A Palindromic Motif in the −2084 to −2078 Upstream Region is Essential for ABCA12 Promoter Function in Cultured Human Keratinocytes (2014) (3)
- Solitary Organizing Pneumonia Mimicking Lung Adenocarcinoma in Systemic Sclerosis (2014) (3)
- Neutrophil-to-lymphocyte ratio as a predictor of lymph node metastasis in extramammary Paget's disease: A retrospective study. (2021) (3)
- Dyschromatosis symmetrica hereditaria may be successfully controlled by topical sunscreen (2018) (3)
- Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2 (2022) (3)
- Highly variable clinical feature and course of aggressive digital papillary adenocarcinoma (2018) (3)
- Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation (2022) (3)
- Image Gallery: Palmoplantar hyperkeratosis in dermatomyositis with anti‐PM/Scl antibodies (2017) (3)
- An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency. (2018) (3)
- Ichthyosis (2023) (3)
- Lipodystrophia centrifugalis abdominalis infantilis accompanied by idiopathic encephalopathy (2016) (3)
- Case of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation (2021) (2)
- Pathogenesis of a variant in the 5′ untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria (2020) (2)
- Intractable erythematous plaques on the hands: palmoplantar eosinophilic pustular folliculitis (2013) (2)
- Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita (2017) (2)
- Neutrophil extracellular traps are involved in enhanced contact hypersensitivity response in IL-36 receptor antagonist-deficient mice (2022) (2)
- Near-infrared image-guided super-selective intra-arterial infusion of high-dose cisplatin for squamous cell carcinoma on the lower lip (2017) (2)
- Hydroxyurea-induced amyopathic dermatomyositis presenting with heliotrope erythema. (2014) (2)
- Sterol profiles are valuable biomarkers for phenotype expression of Conradi–Hünermann–Happle syndrome with EBP mutations (2018) (2)
- N-Linked neutral oligosaccharides in the stratum corneum of normal and ichthyotic skin (2006) (2)
- Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr (2020) (2)
- IgE-independent pathophysiology of severe atopic dermatitis demonstrated in an IgE-deficient patient. (2016) (2)
- Japanese guidelines for the management of palmoplantar keratoderma (2021) (2)
- Ortner's syndrome caused by pulmonary arterial hypertension associated with mixed connective tissue disease. (2016) (2)
- A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10 (2017) (2)
- Eosinophilia and systemic symptoms with transient ageusia: a drug reaction caused by zonisamide (2018) (2)
- Severely hyperkeratotic erythroderma associated with Hodgkin's disease: does a high serum level of granulocyte-colony stimulating factor contribute to formation of skin lesions? (2003) (2)
- Type XVII collagen ELISA indices significantly decreased after bullous pemphigoid remission (2011) (2)
- Sunlight is merely a temporary modifier of dyschromatosis symmetrica hereditaria (2018) (2)
- Progressive refractory ulcer of the nipple: a quiz. (2009) (2)
- The benefits of high-resolution, real-time colour-imaging of lymphatic flow for sentinel lymph node biopsy (2018) (2)
- Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome. (2022) (2)
- Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab (2020) (2)
- A systemic form of chronic active Epstein-Barr virus infection diagnosed from erythema nodosum-like skin lesions (2020) (2)
- Epididymitis with Epididymal Cyst Indicating Immunoglobulin A Vasculitis in an AdultAi Nanbu, Kazumitsu Sugiura, Naoto Sassa, Masashi Akiyama. (2016) (2)
- Two cases of refractory nail psoriasis successfully treated with calcipotriol plus betamethasone dipropionate gel (2020) (2)
- Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma (2018) (2)
- Autoantibody profiles in patients' sera associated with distribution patterns of dermatomyositis skin symptoms. (2021) (2)
- Keratoacanthoma with Glandular Proliferation (1993) (2)
- Perinatal cytomegalovirus-associated bullae in an immunocompetent infant. (2012) (2)
- Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family (2016) (2)
- CD44-Deficient Mice Do Not Exhibit Impairment of Epidermal Langerhans Cell Migration to Lymph Nodes after Epicutaneous Sensitization with Protein (2010) (2)
- Large epidermal cleft formation in verrucous-keratotic malignant melanoma of the heel. (2015) (2)
- Unilateral generalized linear porokeratosis with nail dystrophy (2016) (2)
- Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant heterozygote (2021) (2)
- Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C‐terminus of KIT (2018) (2)
- CARD14 alterations and psoriasis: are psoriasis and related disorders genetic autoinflammatory diseases? (2016) (2)
- Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases (2020) (2)
- Dyschromatosis symmetrica hereditaria with chilblains due to a novel two‐amino‐acid deletion in the double‐stranded RNA‐binding domain of ADAR1 (2018) (2)
- Morphea in a Crohn’s disease patient undergoing ustekinumab treatment (2021) (2)
- Altered expression of actin and focal adhesion-associated proteins in Kindler syndrome (2004) (2)
- Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis. (2019) (2)
- Pemphigus foliaceus associated with oesophageal cancer (2009) (2)
- Recurrent KRT10 Variant in Ichthyosis with Confetti (2020) (2)
- A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma. (2020) (2)
- Remodeling of desmosomal and hemidesmosomal adhesion systems during human hair follicle development. (2004) (2)
- Unilateral case of multiple minute digitate hyperkeratosis (2019) (2)
- MEDNIK‐like syndrome due to compound heterozygous mutations in AP1B1 (2020) (2)
- Epidermolysis bullosa: diagnosis and therapy (2009) (2)
- Intractable erythematous plaques on the hands: palmoplantar eosinophilic pustular folliculitis (2013) (2)
- Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment (2021) (2)
- Metastatic skin lesions of multiple myeloma presenting as two extraordinarily large subcutaneous tumors (2013) (2)
- Abnormalities of basal cell keratin in epidermolysis bullosa simplex do not affect the expression patterns of suprabasal keratins and cornified cell envelope proteins (1998) (2)
- Superficial epidermolytic ichthyosis concomitant with atopic dermatitis (2018) (1)
- Novel ADAR1 mutations including single amino acid deletion in the deaminase domain underly dyschromatosis symmetrica hereditaria (2013) (1)
- A case of brain metastasis in HER2-negative extramammary Paget's disease. (2020) (1)
- 174 Cornified cell envelope (CCE) precursor proteins and transglutaminase (TGase) 1 are coordinately expressed in the sites of hair canal morphogenesis during human hair follicle development (1997) (1)
- Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid (2021) (1)
- A case of juvenile amyopathic dermatomyositis with anti‐transcription intermediary factor 1‐α antibody showing negative anti‐TIF1‐γ ELISA results: Comment on “Case of pembrolizumab‐induced dermatomyositis with anti‐transcription intermediary factor 1‐γ antibody” (2022) (1)
- A case with overlapping features of IgG4-related autoimmune pancreatitis, Sjögren’s syndrome and anti-aminoacyl-tRNA synthetase syndrome (2020) (1)
- Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations (2021) (1)
- Eosinophilic annular erythema localized on the neck (2017) (1)
- Autoinflammatory keratinization diseases: The concept, diseases involved, and pathogeneses (2022) (1)
- A patient with Parkinson’s disease and dermatomyositis with serum anti-transcriptional intermediary factor 1-γ antibody (2016) (1)
- Darier disease successfully treated with a topical agent containing vitamin A (retinyl palmitate), vitamin E, and urea (2022) (1)
- Angiokeratoma of the scrotum and sublingual varices in a patient with jejunal phlebectasia. (2012) (1)
- Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case (2020) (1)
- [Successful treatment of pre-engraftment disseminated fusariosis with high-dose liposomal amphotericin B in a cord blood transplant recipient]. (2019) (1)
- Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloiclosis (2008) (1)
- Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations (2020) (1)
- Involvement of hypoxia‐inducible factor activity in inevitable air‐exposure treatment upon differentiation in a three‐dimensional keratinocyte culture (2022) (1)
- コラーゲンX・II/BP180遺伝子欠損マウスとそのヒトコラーゲンX・IIcDNAを用いたトランスジェニックレスキュー (2006) (1)
- A case of squeamous cell carcinoma occurred in an epidermal cyst on the buttock (2014) (1)
- Leg ulcers associated with cutaneous vascular degeneration in a patient receiving pazopanib chemotherapy (2017) (1)
- Author's response to the comment to ‘Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis’ (2018) (1)
- Case of adult‐onset Still's disease with psoriasiform eruptions (2018) (1)
- Multiple pebble‐like ectopic nails as a subsequent complication of phenol cauterization treatment for onychocryptosis (2019) (1)
- 197 Chromosomal inversions as a hidden disease-modifying factor (2017) (1)
- Hyaline vascular‐type unicentric Castleman disease presenting as a subcutaneous nodule in a child (2018) (1)
- Brooke–Spiegler syndrome with chronic obstructive pulmonary disease and chronic sinusitis (2019) (1)
- Three‐dimensional modeling and printing facilitate preoperative simulation and planning in skin surgery (2016) (1)
- Ganciclovir pre‐emptive therapy for cytomegalovirus antigenemia in a pemphigus vulgaris patient (2019) (1)
- Tight junction proteins show developmentally regulated expression patterns during human fetal skin ontogeny (2003) (1)
- P05-09[C02-4]Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis (2017) (1)
- Hereditary mucoepithelial dysplasia/autosomal-dominant IFAP syndrome is a clinical spectrum due to SREBF1 variants. (2020) (1)
- Magnetic resonance imaging findings are useful for evaluating the three-dimensional development and follow-up of linear lupus erythematosus profundus (2015) (1)
- In vivo transfer of TGF-α and β genes to keratinocytes (2004) (1)
- Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome (2018) (1)
- Urticaria pigmentosa complicated with esophageal eosinophilia. (2014) (1)
- Targeting IL-36 in Inflammatory Skin Diseases. (2023) (1)
- Child case of Buruli ulcer successfully treated through a school‐based skin survey project in Côte d’Ivoire (2019) (1)
- Cutaneous extramedullary hematopoiesis in a patient with secondary myelofibrosis due to MPL gene mutation (2020) (1)
- Cytomegalovirus-induced skin erosions mimicking bullous pemphigoid relapse (2022) (1)
- Case of herpes zoster complicated with paralysis of the recurrent and glossopharyngeal nerves (2019) (1)
- Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation. (2019) (1)
- Melanonychia caused by Stenotrophomonas maltophilia (2009) (1)
- Is the Measurement of Anti–PM‐1α Antibodies at Least as Important as That of Other Systemic Sclerosis–Specific Antibodies? Comment on the Article by D'Aoust et al (2014) (1)
- Update on filaggrin mutations and atopic dermatitis (2010) (1)
- Collagen XVII/BP180 knockout mouse and its transgenic rescue using human collagen XVII cDNA (2006) (1)
- Six-year-old boy with palmoplantar keratoderma and ichthyosis (2014) (1)
- Dowling-Degos disease is genetically and clinico-pathologically distinct from reticulate acropigmentation of Kitamura, further confirmation (2016) (1)
- Development of pemphigus vegetans and exacerbation of pemphigus foliaceus after secukinumab loading in a patient with complicated generalized pustular psoriasis and pyoderma gangrenosum (2022) (1)
- Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma (2018) (1)
- Mutations in ABCA12 underlie harlequin ichthyosis (2005) (1)
- Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder (2020) (1)
- Case of annular pustular psoriasis/circinate erythematous psoriasis induced by hydroxychloroquine in a patient with systemic lupus erythematosus: Possible association with CARD‐14 mutation (2021) (1)
- Symmetrical peripheral gangrene in a patient with septic shock due to Serratia marcescens (2022) (1)
- No significant change of glycoconjugates exists in the epidermis of familial benign chronic pemphigus (2004) (1)
- Spindle cell angiosarcoma almost exclusively made up of spindle cells (2014) (1)
- Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B (2020) (1)
- Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38-MAPK-dependent migration and cell signaling (2009) (1)
- Epstein-Barr Virus-associated Natural Killer/T-cell Lymphoma in a Patient Receiving Therapy with Anti-Tumour Necrosis Factor and Thiopurine. (2017) (1)
- Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis. (2019) (1)
- Cutaneous manifestations of microscopic polyangiitis successfully controlled with avacopan alone. (2023) (1)
- A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson’s disease (2017) (1)
- A case of late middle age‐onset recurrent rheumatic fever (2019) (1)
- Pulmonary mucosa‐associated lymphoid tissue lymphoma in Sjögren's syndrome without interstitial pneumonia (2013) (1)
- Curing genetic skin disease through altered replication stress response (2020) (0)
- Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma (2022) (0)
- Author's reply to "detection of anti-periplakin autoantibodies during idiopathic pulmonary fibrosis" by Taillé et al. (2014) (0)
- IL36RN mutations underlie impetigo herpetiformis and CARD14 c.526G>C is a risk factor for pustular psoriasis with psoriasis vulgaris (2016) (0)
- A single‐centre cohort study on cutaneous manifestations of antinuclear matrix protein 2 antibody‐positive dermatomyositis (2019) (0)
- Ichthyosis Scoring System-A Powerful Tool in the Era of Immune Pathway-Targeted Therapies for Ichthyosis. (2022) (0)
- Odontogenic keratocysts are an important clue for diagnosing basal cell nevus syndrome (2021) (0)
- FRI0339 CLINICAL CHARACTERISTICS OF ANTI-RO52α AND ANTI-RO52β ANTIBODIES IN DERMATOMYOSITIS/POLYMYOSITIS (2019) (0)
- Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1 (2013) (0)
- Clustering using unsupervised machine learning to stratify the risk of immune‐related liver injury (2022) (0)
- Clinical Features and Outcomes Based on Liver Injury Patterns in Liver Injury Caused by Immune Checkpoint Inhibitors (2021) (0)
- Remodelling of calcinosis cutis in a patient with scleroderma overlap syndrome (2020) (0)
- English version of Japanese guidance for the use of oral Janus kinase (JAK) inhibitors in the treatments of atopic dermatitis (2022) (0)
- Postoperative radiation therapy improves prognoses in extramammary Paget's disease presenting with multiple lymph node metastases (2022) (0)
- Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity (2020) (0)
- Contents Vol. 208, 2004 (2004) (0)
- Multiple diagnostic examinations are effective for the early diagnosis of scrofuloderma. (2023) (0)
- Mitotic recombination causes frequent somatic reversion of a dominant KRT1 mutation in ichthyosis hystrix Curth-Macklin (2016) (0)
- Porous films can deliver sufficient human keratinocyte numbers to improve wound healing in model mice (2008) (0)
- Porous film grafts allow support, transfer and delivery of live human cells to wounded model mice (2007) (0)
- Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG. (2022) (0)
- Morphological analysis of amniotic fluid cells: Its contribution to prenatal diagnosis of severe genodermatoses (1993) (0)
- Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing (2021) (0)
- Acquired reactive perforating collagenosis with chondrodermatitis nodularis chronica helicis (2020) (0)
- 198 Immunohistochemical features in the lesional skin of severe congenital ichthyosis (1995) (0)
- Eosinophilic granulomatosis with polyangiitis complicated with idiopathic thrombocytopenic purpura and sclerosing cholangitis showing eosinophilic infiltration (2022) (0)
- Ichthyotic skin phenotype induced by the chronic activation of Toll-like receptor 2, and autoinflammation. (2023) (0)
- 293 Pityriasis rubra pilaris type V with a heterozygous mutation in CARD14 (2019) (0)
- Identification of an palindromic motif in the upstream region of ABCA12 required for promoter activity in cultured human keratinocytes (2016) (0)
- Long‐term risk of cancer development among anti‐Th/To antibody–positive systemic sclerosis patients: comment on the article by Mecoli et al (2021) (0)
- Mutations in the gene coding filaggrin and atopic dermatitis (2010) (0)
- Clinical characteristics of anti-Ro52α and anti-Ro52β antibodies in dermatomyositis/polymyositis. (2019) (0)
- Ultrasound-guided peripheral nerve blocks are useful for resections of malignant skin tumours on the leg (2017) (0)
- Severe chilblain lupus is associated with heterozygous missense mutations of catalytic sites of 3’-repair exonuclease 1 (2013) (0)
- Clinical and Experimental Dermatology Reviewers 2011 (2012) (0)
- McMillanJR,LongHA,AkiyamaM,ShimizuH&KimbleRM (2009) (0)
- Successful treatment of a cutaneous ulcer due to cholesterol crystal embolization with topical basic fibroblast growth factor (2017) (0)
- A Case of Restrictive Dermopathy (2018) (0)
- amyopathic dermatomyositis presenting with heliotrope erythema (2014) (0)
- Prominent dermal accumulation of Russell bodies underlying pseudocarcinomatous hyperplasia with fungal infection (2023) (0)
- Acrodermatitis continua of Hallopeau with dense infiltration of IgG4‐positive cells in the lesional dermis (2019) (0)
- Newsletter ILDS No 15 (2010) (0)
- Altered expression of actin, focal adhesion- and basement membrane-associated proteins in Kindler syndrome skin (2004) (0)
- Comment on: Successful treatment of rapid progressive interstitial lung disease in a case of anti-Zo antibody positive anti-synthetase syndrome. (2023) (0)
- Appropriate immunoassay systems are needed to evaluate various anticentromere antibodies as biomarkers for disease progression in systemic sclerosis. (2022) (0)
- Filaggrin gene mutations are significantly associated with food allergy in Japanese primary school children (2016) (0)
- Primary mucinous carcinoma of the skin on the breast with lymph node metastasis (2014) (0)
- Hyperpigmentation over the metacarpophalangeal joints as an initial cutaneous finding of hyaline fibromatosis syndrome with ANTXR2 mutations (2016) (0)
- Ichthyotic skin lesions of Conradi-Hünermann-Happle syndrome successfully treated with dupilumab. (2023) (0)
- 700 Ceramide analysis in combination with genetic testing is useful in diagnosing self-healing collodion babies (2023) (0)
- Glycoconjugates in the epidermis of familial benign chronic pemphigus (1991) (0)
- Giant condyloma of Buschke-Löwenstein in a Netherton syndrome patient, successfully treated with cryotherapy and intravenous immunoglobulin. (2023) (0)
- Introduction of beta defensin-3 into epidermal keratinocytes (2004) (0)
- Acknowledgment to Referees (2023) (0)
- Plakin Family Autoantibodies in Bronchiolitis Obliterans Following Hematopoietic Stem Cell Transplantation As Useful Biomarkers and the Target for Rituximab Therapy (2016) (0)
- Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis (2016) (0)
- Darier’s disease with epilepsy in an elderly patient after surgery for aortic dissection (2021) (0)
- Retrospective Analysis of Neutrophil-to-Lymphocyte Ratio in Patients with Melanoma Who Received Ipilimumab Monotherapy or Ipilimumab in Combination with Nivolumab in Japan. (2023) (0)
- Porous films allow live human keratinocyte delivery and aid wound healing in model mice (2009) (0)
- Mycosis fungoides treated with a combination of topical psoralen and ultraviolet A, interferon gamma-1a, and low-dose etoposide therapy : A case report (2018) (0)
- Prevalent and Rare Filaggrin Mutations in Japanese Patients with Atopic Dermatitis (2008) (0)
- Exploring biomarkers to predict clinical improvement of atopic dermatitis in patients treated with dupilumab (B‐PAD study) (2022) (0)
- The use of certolizumab pegol to successfully treat generalized pustular psoriasis combined with psoriatic uveitis. (2022) (0)
- Porous films allow live human skin cell delivery and aid wound healing in model mice (2007) (0)
- Long-term survival of harlequin ichthyosis patient with a complete lack of ABCA12 function. (2006) (0)
- Drug eruption due to sodium picosulfate. (2012) (0)
- Intramuscular haemorrhage in a patient with dermatomyositis and anti-TIF1γ antibodies (2018) (0)
- Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex (1998) (0)
- CGI-58 protein is involved in formation of the trans-Golgi network- lamellar granules and caveolae in human differentiating keratinocytes (2004) (0)
- Localization of growth factors in human fetal hair follicles in the second trimester (1994) (0)
- Pansclerotic morphea associated with hypohidrosis and anti‐M3 muscarinic acetylcholine receptor antibodies (2018) (0)
- Subject Index Vol. 208, 2004 (2004) (0)
- Keratinocyte and fibroblast interactions with porous films: the effect of pore size on cell characteristics (2006) (0)
- A case of parietal DFSP with difficulty in determining the resection margin (2022) (0)
- DNA-based prenatal diagnosis of harlequin ichthyosis with residual ABCA12 expression (2006) (0)
- Current understanding of the phenotypic spectrum of patients with NLRP1 variants. (2022) (0)
- Successful combination therapy of bimekizumab and granulocyte monocyte adsorption apheresis for generalized pustular psoriasis complicated with microscopic polyangiitis. (2023) (0)
- A Case of Family with Vörner-type Palmoplantar Keratoses Confirmed by Genetic Analysis (2022) (0)
- Collagen XVII in hemidesmosomes is involved in keratinocyte-collagen IV adhesion and p38-MAPK-dependent cell migration and signaling (2009) (0)
- Immunoglobulin A (IgA) vasculitis, also known as anaphylactoid purpura or Henoch–Schönlein purpura, is a type of systemic non-thrombocytopenic vasculitis. Patients with IgA vasculitis often have arthritis with involvement of the gastrointestinal tract and kidney (1). Genitourinary involvement in Ig (2016) (0)
- Increased healthcare costs for filaggrin‐related eczema and asthma: hope for targeted management and prevention (2018) (0)
- Equestrian cold panniculitis in a cold‐storage‐room worker (2019) (0)
- Anti-KIF20B autoantibodies in systemic autoimmune rheumatic diseases: Their high prevalence in systemic lupus erythematosus. (2023) (0)
- 534 Long-term risk of cancer development among anti-Th/To antibody-positive systemic sclerosis patients (2023) (0)
- Unique ontogenic localization of possible stem cells of follicular epithelium in developing human hair follicle (1998) (0)
- Nodular fasciitis with prominent myxoid changes on the face (2021) (0)
- Therapy‐related myelodysplastic syndrome after alkylating agents and platinum‐based therapy for malignant melanoma (2014) (0)
- Genetic Disease, Gene Expression and Gene Therapy | ABSTRACTS (2015) (0)
- Transglutaminase 1 in human hair follicle. (1999) (0)
- A case of advanced diffuse large B-cell lymphoma diagnosed from widespread superficial mycosis of the skin. (2023) (0)
- Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3) (2017) (0)
- Kindlin-1 is important in human keratinocyte-substrate focal contact-mediated-adhesion, and cell survival/protection from apoptosis in vitro (2006) (0)
- 032 Distribution of transglutaminase 1 (TGaseK) in the epidermis of harlequin ichthyosis (1996) (0)
- Cutaneous malignant melanoma in an elderly patient with intermediate junctional epidermolysis bullosa (2021) (0)
- Ultrasonography, a useful tool for detecting tumour ‘pseudoprogression’ (2017) (0)
- Hiroshi Shimizu, M.D., Ph.D. (1954-2021). (2021) (0)
- sQUIZ your knowledge: Multiple subcutaneous nodules symmetrically located on tendinous regions (2020) (0)
- Alopecia totalis in monosomy 18p. (2013) (0)
- 258 National survey of quality of life and disease severity in patients with congenital ichthyosis (2018) (0)
- Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1. (2020) (0)
- A case of pemphigus with anti-desmoglein 3 and anti-desmocollin 2 and 3 autoantibodies, associated with follicular lymphoma and bronchiolitis obliterans (2020) (0)
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- Haploinsufficiency Results in Increased STAT 3 and SOX 9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome (2015) (0)
- 2P166 A comparison of structural properties in N-terminal domain of connexin26 associated to KID syndrome(34. Membrane protein,Poster Session,Abstract,Meeting Program of EABS & BSJ 2006) (2006) (0)
- ANCA‐associated neuropathy in systemic sclerosis: A case report and review of literature (2021) (0)
- Response to: ‘Anti-Ku antibodies: important points to consider’ by Mahler et al (2019) (0)
- Keratinocyte and fibroblast focal contact mediated interactions on porous films: The effect of pore size on cell adhesion and growth (2006) (0)
- Prevalent and rare filaggrin mutations in Japanese patients with ichthyosis vulgaris and atopic dermantitis (2008) (0)
- Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome (2016) (0)
- 870 Tofacitinib reduces skin inflammation in a patient with severe autosomal recessive congenital ichthyosis (2023) (0)
- 107 Linear IgA/IgG bullous dermatosis with autoantibodies to multiple hemidesmosome antigens in the setting of multiple myeloma (2023) (0)
- A novel frameshift mutation in a V2 domain of KRT1 causes ichthyosis hystrix Curth-Macklin type and may alter keratin organization (2013) (0)
- Kindlin-1 and -2 expression in normal human and Kindler Syndrome patients’ skin (2006) (0)
- Extremely mild dominant dystrophic epidermolysis bullosa: Genotype information from whole‐exome sequencing of salivary gDNA predicts disease severity (2022) (0)
- A case of adolescent striae distensae accompanied by ileitis (2021) (0)
- A case of generalised pustular psoriasis with bullous pemphigoid showing spongiform pustule of Kogoj with eosinophils (2021) (0)
- Psoriasis and skin diseases (WS-055) Chairpersons: Masayuki Amagai, Akira Takashima (2010) (0)
- Several laminin subunits colocalize beneath hemidesmosomes in the human epidermal basement membrane zone (2003) (0)
- Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein. (2021) (0)
- Binding sites of pemphigus vulgaris and pemphigus foliaceus antibodies in cultured human keratinocytes (1990) (0)
- Founder mutation in epidermal dystonin underlying autosomal recessive epidermolysis bullosa simplex in Kuwait (2014) (0)
- BJD-2005-01478 Revised Version Case Report Childhood epidermolysis bullosa acquisita with autoantibodies against the non-collagenous 1 and 2 domains of type VII collagen : a case report and a review of the literature (2017) (0)
- 140 Clinical characteristics of systemic sclerosis patients with anti-NOR90 antibodies (2022) (0)
- 116 SDR9C7 catalyzes the critical dehydrogenation of acylceramides for skin barrier formation (2021) (0)
- The expression of laminin 5 is concurrent with the assembly of hemidesmosomes in the developing human epidermal basement membrane (2004) (0)
- TAK-242 ameliorates contact dermatitis exacerbated by IL-36 receptor antagonist deficiency (2020) (0)
- Laminin 10 colocalizes with laminin 5 in the epidermal basement membrane zone beneath hemidesmosomes (2003) (0)
- FLG mutations, eczema control, and respiratory symptom at one-year-old in early-onset atopic dermatitis infants (PACI-ON cohort study). (2023) (0)
- Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas (2022) (0)
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- Impact of skin color on phenotypes of dyschromatosis symmetrica hereditaria and Aicardi-Goutieres syndrome 6 caused by ADAR1 mutations (2017) (0)
- In vivo transfer of TGF-alpha and beta genes to keratinocytes. (2004) (0)
- A case of systemic lupus erythematosus/systemic sclerosis overlap syndrome successfully treated with belimumab (2020) (0)
- Revertant mutation released a lethal mutation concealed in a healthy parent: A previously unreported pathogenesis of hereditary disorders (2016) (0)
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- 199 The expressions of transglutaminase 1 is induced in human fibroblast by retinoid treatment (1997) (0)
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- CD1a‐positive cutaneous mastocytosis: Electron microscopic evidence of pleomorphic mast cell proliferation (2018) (0)
- Benefit of skin ultrasound examination in determining the area of inguinal lymph node dissection (2013) (0)
- Antiphospholipid antibody‐positive Sjögren's syndrome with leg ulcers (2019) (0)
- ABCA12 is involved in lipid transport from the Golgi apparatus to cell periphery in epidermal keratinocytes (2006) (0)
- Kindlin-1 is important in human keratinocyte-substrate focal contact adhesion and cell survival in vitro (2006) (0)
- Clinical associations in PRP with underlying CARD14 mutations (2017) (0)
- Novel and recurrent filaggrin gene mutations in Taiwanese ichthyosis vulgaris families (2010) (0)
- TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome (2016) (0)
- Defective lamellar granule secretion in the epidermis of Papillon-Lefévre syndrome patients (2004) (0)
- Reducing immunosuppressant use in patients with chronic inflammation during the COVID‐19 pandemic: Risks versus benefits (2020) (0)
- The role of ABCA12 in epidermal keratinocyte lipid transport (2005) (0)
- rinary eosinophil protein X and serum eosinophil cationic protein in infants and young children with atopic dermatitis : (2005) (0)
- Expression and localization of actin and focal adhesion proteins in control and kindlin-1 null patient skin (2005) (0)
- CGI-58 plays a crucial role in skin lipid barrier formation (2008) (0)
- Targeted skipping of a single exon harboring a premature termination codon mutation by antisense oligoribonucleotide for dystrophic epidermolysis bullosa (2006) (0)
- 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation (2017) (0)
- Expression of keratinocyte lipid transporter ABCA12 in developing human epidermis (2006) (0)
- 171 Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome (2021) (0)
- Mutations in FLG , the gene‐coding profilaggrin/filaggrin, are associated with putative hay fever in patients with atopic dermatitis (2020) (0)
- Epithelioid cell granuloma formation in CARD14‐associated papulosquamous eruptions (2021) (0)
- Altered expression of desmosomal components in the epidermis of plakophilin 1 deficient patients: An immunohistochemical and ultrastructural study (2003) (0)
- Hemidesmosomal collagen XVII enhances keratinocyte adhesion to collagen IV, and in P38-MAPK-dependent migration and cell signaling (2009) (0)
- Sweet’s syndrome presenting with vegetative nodules on the hands: relationship to neutrophilic dermatosis of the dorsal hands (2014) (0)
- Single-cell colocalization analysis using a deep generative model (2022) (0)
- Hemidesmosomal collagen XVII enhances keratinocyte-collagen IV adhesion, and is involved in p38-MAPK-dependent cell migration and signaling (2009) (0)
- Low plasma fibrinogen levels are associated with poor prognosis in cutaneous angiosarcoma of the head and neck (2021) (0)
- 31028 Mutations in FLG, the gene-coding profilaggrin/filaggrin, are associated with putative hay fever in patients with atopic dermatitis (2022) (0)
- Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases (2019) (0)
- Late‐onset Langerhans cell histiocytosis without extracutaneous involvement (2020) (0)
- COVID-19 infection- and vaccination-related exacerbation of Darier's disease in a single patient. (2023) (0)
- Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy (2018) (0)
- Acknowledgement to Referees (2012) (0)
- Comment on: Favourable complete remission of anti-OJ antibody-positive myositis after lung cancer resection. (2022) (0)
- Comment on: Disease evolution in a long-term follow-up of 104 undifferentiated connective tissue disease patients. (2022) (0)
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What Schools Are Affiliated With Masashi Akiyama?
Masashi Akiyama is affiliated with the following schools:
