Karen Steel
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British geneticist
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Biology
Karen Steel's Degrees
- Bachelors Biochemistry University of Manchester
Why Is Karen Steel Influential?
(Suggest an Edit or Addition)According to Wikipedia, Karen Penelope Steel FRS FMedSci is a British scientist who studies the genetics of deafness, using the mouse as a model to identify the genes involved and to understand the molecular, cellular and physiological mechanisms involved. She is Professor of Sensory Function at the Wolfson Centre for Age-Related Diseases, King's College London. Previously she was Principal Investigator of the Genetics of Deafness research programme at the Wellcome Trust Sanger Institute.
Karen Steel's Published Works
Number of citations in a given year to any of this author's works
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
- Defective myosin VIIA gene responsible for Usher syndrome type IB (1995) (1084)
- A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse (2000) (682)
- A type VII myosin encoded by the mouse deafness gene shaker-1 (1995) (666)
- Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse (2003) (607)
- Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss (2009) (517)
- Sox2 is required for sensory organ development in the mammalian inner ear (2005) (504)
- The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells (1995) (478)
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafness (1997) (466)
- Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D (2001) (442)
- Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes (2013) (424)
- Wnt5a functions in planar cell polarity regulation in mice. (2007) (417)
- TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. (1992) (398)
- Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. (1989) (392)
- A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains (2013) (370)
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31 (2003) (325)
- Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene (1997) (321)
- Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium (1999) (302)
- Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. (1998) (299)
- An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice (2009) (285)
- A genetic approach to understanding auditory function (2001) (284)
- Role of myosin VI in the differentiation of cochlear hair cells. (1999) (260)
- Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations (2002) (257)
- Beethoven, a mouse model for dominant, progressive hearing loss DFNA36 (2002) (242)
- The Notch ligand Jagged1 is required for inner ear sensory development (2001) (214)
- Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. (2005) (214)
- Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. (2000) (181)
- Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice (2003) (180)
- Prevalence of sexual dimorphism in mammalian phenotypic traits (2017) (177)
- Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. (1999) (168)
- Inherited hearing defects in mice. (1995) (162)
- Myosin VIIA Is Required for Aminoglycoside Accumulation in Cochlear Hair Cells (1997) (159)
- Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study (2011) (152)
- Loss of myosin VI reduces secretion and the size of the Golgi in fibroblasts from Snell's waltzer mice (2003) (147)
- Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project (2012) (140)
- Analysis of the Pax-3 gene in the mouse mutant splotch. (1993) (138)
- The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti. (2001) (138)
- Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes (2004) (136)
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. (2009) (135)
- Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics (2015) (135)
- Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse (1995) (135)
- Expression of α and β subunit isoforms of Na,K-ATPase in the mouse inner ear and changes with mutations at the Wv or Sld loci (1994) (128)
- Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. (1998) (123)
- Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression. (1997) (122)
- Hereditary inner-ear abnormalities in animals. Relationships with human abnormalities. (1983) (116)
- Mutation analysis of the mouse myosin VIIA deafness gene. (1997) (112)
- Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea (2006) (110)
- miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cells (2011) (108)
- Strial dysfunction in mice with cochleo-saccular abnormalities (1987) (108)
- Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. (1997) (105)
- Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. (2008) (105)
- A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction (2017) (104)
- Genes and deafness. (1994) (95)
- The nature of inherited deafness in deafness mice (1980) (94)
- Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. (2001) (90)
- Progressive Hearing Loss and Increased Susceptibility to Noise-Induced Hearing Loss in Mice Carrying a Cdh23 but not a Myo7a Mutation (2004) (89)
- Ectopic Expression of Activated Notch or SOX2 Reveals Similar and Unique Roles in the Development of the Sensory Cell Progenitors in the Mammalian Inner Ear (2013) (88)
- Elongation of hair cell stereocilia is defective in the mouse mutant whirler (2002) (87)
- The Deaf Mouse Mutant Jeff (Jf) is a Single Gene Model of Otitis Media (2003) (86)
- A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants (2015) (86)
- The Role of Sphingosine-1-Phosphate Transporter Spns2 in Immune System Function (2012) (86)
- Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. (2012) (84)
- A Myo6 Mutation Destroys Coordination between the Myosin Heads, Revealing New Functions of Myosin VI in the Stereocilia of Mammalian Inner Ear Hair Cells (2008) (84)
- Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1 (1992) (81)
- A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. (1999) (81)
- Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice (2002) (76)
- Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. (2001) (75)
- Mosaic Complementation Demonstrates a Regulatory Role for Myosin VIIa in Actin Dynamics of Stereocilia (2007) (74)
- Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse. (1994) (73)
- Inner ear pathology in the deafness mutant mouse. (1983) (72)
- A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis (2007) (72)
- The Benefits of Recycling (1999) (71)
- Presynaptic maturation in auditory hair cells requires a critical period of sensory-independent spiking activity (2013) (70)
- Characteristics of stria vascularis melanocytes of viable dominant spotting ( Wv Wv ) mouse mutants (1992) (68)
- The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice (2010) (68)
- Mouse screen reveals multiple new genes underlying mouse and human hearing loss (2019) (68)
- Genetics and molecular biology of mouse pigmentation. (1994) (67)
- The Novel Mouse Mutation Oblivion Inactivates the PMCA2 Pump and Causes Progressive Hearing Loss (2008) (63)
- Myosin Va is required for normal photoreceptor synaptic activity (2004) (62)
- Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype (2012) (62)
- MyosinVIIa Interacts with Twinfilin-2 at the Tips of Mechanosensory Stereocilia in the Inner Ear (2009) (59)
- A comparative phenotypic and genomic analysis of C 57 BL / 6 J and C 57 BL / 6 N mouse strains (2013) (59)
- Glycoconjugates of the tectorial membrane (1987) (59)
- The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65 (2011) (58)
- Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss (2013) (56)
- Identification of two types of melanocyte within the stria vascularis of the mouse inner ear. (1991) (55)
- The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development (2007) (54)
- The tectorial membrane of mammals (1983) (52)
- Study of smell and reproductive organs in a mouse model for CHARGE syndrome (2009) (52)
- Using the Auditory Brainstem Response (ABR) to Determine Sensitivity of Hearing in Mutant Mice (2011) (52)
- Deafness genes: expressions of surprise. (1999) (52)
- Spinster Homolog 2 (Spns2) Deficiency Causes Early Onset Progressive Hearing Loss (2014) (51)
- Emx2 and early hair cell development in the mouse inner ear (2010) (51)
- Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. (2003) (51)
- A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment (2004) (51)
- OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) (2015) (50)
- Expression of alpha and beta subunit isoforms of Na,K-ATPase in the mouse inner ear and changes with mutations at the Wv or Sld loci. (1994) (50)
- ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells (2014) (49)
- A resource of targeted mutant mouse lines for 5,061 genes (2019) (48)
- Cochlear dysfunction in the jerker mouse. (1983) (48)
- 22 – Development of the Mouse Inner Ear (2002) (47)
- Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen (2014) (47)
- Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media (2013) (47)
- The endolymphatic sac in a mouse mutant with cochleo-saccular degeneration Electrophysiological and ultrastructural correlations (1987) (46)
- Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ ) mouse (1998) (45)
- Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation (2018) (45)
- ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis (2002) (45)
- Tailchaser (Tlc): A new mouse mutation affecting hair bundle differentiation and hair cell survival (1999) (44)
- New interventions in hearing impairment (2000) (43)
- Cochlear ablation in deafness mutant mice: 2-deoxyglucose analysis suggests no spontaneous activity of cochlear origin (1989) (42)
- Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. (1998) (41)
- Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function (2014) (41)
- Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear (2012) (41)
- Similarities between ‐Mice and Humans with Hereditary Deafness (1991) (41)
- Usher syndromes due to MYO 7 A , PCDH 15 , USH 2 A or GPR 98 mutations share retinal disease mechanism (2008) (39)
- Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes (2018) (39)
- Identification of a new mutation of the myosin VII head region in Usher syndrome type 1 (1997) (39)
- Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing (2016) (38)
- A new era in the genetics of deafness. (1998) (38)
- Genetic deafness--progress with mouse models. (1994) (36)
- Mutations and altered expression of SERPINF1 in patients with familial otosclerosis (2016) (35)
- The proteins of normal and abnormal tectorial membranes. (1980) (35)
- Light (Blt), a mutation that causes melanocyte death, affects stria vascularis function in the mouse inner ear. (1993) (35)
- The Wheels mutation in the mouse causes vascular, hindbrain, and inner ear defects. (2001) (34)
- The roles of unconventional myosins in hearing and deafness. (2000) (34)
- Localization of the bronx waltzer (bv) deafness gene to mouse Chromosome 5 (1997) (33)
- Use of albino animals for auditory research (1984) (32)
- Electrically-evoked responses in animals with progressive spiral ganglion degeneration (1984) (32)
- The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon (2003) (32)
- Donnan equilibrium in the tectorial membrane (1983) (31)
- Preservation of central auditory function in thedeafness mouse (1982) (31)
- Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia (2016) (31)
- The development and interpretation of the summating potential response (1992) (31)
- Targeting of Slc25a21 Is Associated with Orofacial Defects and Otitis Media Due to Disrupted Expression of a Neighbouring Gene (2014) (30)
- S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse (2016) (30)
- Catweasel mice: A novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome (2009) (30)
- Genetics of deafness (1996) (29)
- Salt-inducible kinase 3, SIK3, is a new gene associated with hearing (2014) (29)
- MicroRNAs in mouse development and disease (2010) (29)
- miR-96 is required for normal development of the auditory hindbrain (2018) (28)
- Perspectives: biomedicine. The benefits of recycling. (1999) (28)
- Characterization of a New Mouse Mutant, Flouncer, with a Balance Defect and Inner Ear Malformation (2004) (28)
- Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice (2011) (28)
- Genes involved in deafness. (1999) (28)
- A missense mutation in myosin VIIA prevents aminoglycoside accumulation in early postnatal cochlear hair cells. (1999) (27)
- Endocochlear potential generation is associated with intercellular communication in the stria vascularis: Structural analysis in the viable dominant spotting mouse mutant (1990) (27)
- Two quantitative trait loci affecting progressive hearing loss in 101/H mice (2006) (27)
- The acquisition of mechano‐electrical transducer current adaptation in auditory hair cells requires myosin VI (2016) (27)
- The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss (2012) (26)
- Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. (1993) (26)
- Towards a mutant map of the mouse – new models of neurological, behavioural, deafness, bone, renal and blood disorders (2004) (25)
- The PDZ-Domain Protein Whirlin Facilitates Mechanosensory Signaling in Mammalian Proprioceptors (2015) (25)
- Genetic mapping of the whirler mutation (1999) (24)
- Mouse models for Usher syndrome 1B. (2003) (24)
- A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil (2002) (24)
- Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3. (2002) (23)
- An ENU-induced mutation in AP-2α leads to middle earand ocular defects in Doarad mice (2004) (23)
- Identification of Genes Important for Cutaneous Function Revealed by a Large Scale Reverse Genetic Screen in the Mouse (2014) (23)
- Mixed conductive and sensorineural hearing loss in LP/J mice (1987) (22)
- Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1. (1992) (21)
- A histologic study of nonmorphogenetic forms of hereditary hearing impairment. (1992) (21)
- Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4 Dos nuevos ratones mutantes con defectos vestibulares hallados en el altamente mutable locus del cromosoma 4 (2005) (21)
- Linkage analysis of the whirler deafness gene on mouse chromosome 4. (1994) (21)
- One connexin, two diseases (1998) (20)
- Comparative Gene Mapping, Genome Duplication, and the Genetics of Hearing a (1991) (20)
- Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular Defects (2012) (20)
- A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment (2015) (18)
- The quivering mutant mouse: hereditary deafness of central origin. (1983) (17)
- Hush Puppy: A New Mouse Mutant With Pinna, Ossicle, and Inner Ear Defects (2005) (17)
- MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS (2011) (17)
- Mice as Models for Human Hereditary Deafness (2002) (17)
- A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice (2011) (17)
- Varitint-waddler: A double whammy for hearing (2002) (16)
- Genetic deafness of central origin (1983) (16)
- A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo (2014) (16)
- Myosin VI is required for normal retinal function. (2005) (16)
- Progress in Progressive Hearing Loss (1998) (16)
- Cytoskeletal integration in a highly ordered sensory epithelium in the organ of Corti: reponse to loss of cell partners in the Bronx waltzer mouse (1999) (16)
- Genetic factors affecting hearing development. (1985) (15)
- Genetics, Gene Expression and Bioinformatics of the Pituitary Gland (2009) (15)
- Exploring regulatory networks of miR-96 in the developing inner ear (2016) (14)
- Mouse homologues for human deafness. (2000) (14)
- Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip Link formation (2009) (14)
- Use of mouse genetics for studying inner ear development. (2003) (14)
- The molecular genetics of inherited deafness – current and future applications (1998) (14)
- A gene expression resource generated by genome-wide lacZ profiling in the mouse (2015) (13)
- An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. (2004) (12)
- Pitpnm1 is expressed in hair cells during development but is not required for hearing☆ (2013) (12)
- Translational and interdisciplinary insights into presbyacusis: A multidimensional disease (2020) (11)
- Early development and degeneration of vestibular hair cells in bronx waltzer mutant mice (2002) (11)
- Unravelling the genetics of deafness. (1997) (10)
- Auditory Function in the Tc1 Mouse Model of Down Syndrome Suggests a Limited Region of Human Chromosome 21 Involved in Otitis Media (2012) (10)
- Headbobber: A Combined Morphogenetic and Cochleosaccular Mouse Model to Study 10qter Deletions in Human Deafness (2013) (9)
- Reverse Genetic Approaches to Cloning Deafness Genes a (1991) (9)
- Emx 2 and early hair cell development in the mouse inner ear (2010) (9)
- The Sp4H deletion may contain a new locus essential for postimplantation development. (1996) (8)
- Sensorineural hearing impairment non-syndromic, dominant DFNA11. (2000) (8)
- A take on the tectorial membrane (2000) (8)
- Electrical stimulation of the cochlear nerve in deafness mice. (1983) (7)
- A deletion on Chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate (2000) (7)
- Update: More Deafness Genes (1998) (7)
- Functional analysis of candidate genes from genome-wide association studies of hearing (2020) (7)
- Specific expression of Kcna10, Pxn and Odf2 in the organ of Corti (2012) (6)
- Genetics of Hearing Impairment (1991) (6)
- Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice (2020) (6)
- The molecular genetics of inherited deafness – current knowledge and recent advances (1998) (5)
- What’s the Use of Genetics? (2014) (5)
- Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects (2019) (5)
- Electrical stimulation of the auditory system in animals profoundly deaf from birth. (1985) (5)
- A Cornucopia of Candidates for Deafness (2012) (5)
- Approaches to Understanding the Molecular Genetics of Hearing and Deafness (1996) (5)
- Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effects (2020) (5)
- Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss (2021) (4)
- Faculty Opinions recommendation of The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. (2002) (4)
- Hair cell function - it's all a matter of organization. (2001) (4)
- More deafness genes. (1998) (3)
- Genetics in Otorhinolaryngology (2000) (3)
- Targeted deletion of the RNA-binding protein Caprin1 leads to progressive hearing loss and impairs recovery from noise exposure in mice (2021) (3)
- Genetic deafness: a step closer. (1999) (2)
- On the role of ephrinA2 in auditory function (2017) (2)
- Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank (2022) (2)
- Cochlear potentials in deafness and jerker mice (1980) (2)
- Sox2 is required for sensory organ development in the inner ear (2005) (2)
- Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1 (2012) (2)
- Gene linkage and genetic deafness. (1995) (2)
- Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice (2022) (2)
- Hair-cell regeneration: cure for deafness? (1995) (2)
- Shaker mice and a peek into the House of Usher. (1997) (2)
- Correction: Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media (2013) (1)
- Faculty Opinions recommendation of Rapid renewal of auditory hair bundles. (2002) (1)
- Faculty Opinions recommendation of FGFR1 is required for the development of the auditory sensory epithelium. (2002) (1)
- A missense mutation in myosin VIIA prevents aminoglycoside accumulation in cochlear hair cells (1999) (1)
- The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear (2022) (1)
- A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains (2013) (1)
- A comprehensive screen of the USH2A gene in 185 patients with autosomal recessive retinal disease (2013) (1)
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme (2021) (1)
- The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention (2022) (1)
- Genes and Common Diseases: Genetic and environmental influences on hearing impairment (2007) (1)
- Mouse models for human genetic deafness (2001) (1)
- Mechanisms regulating the initiation of neural tube closure (2004) (0)
- Localization of the bronx waltzer (bv) deafness mutation and its effects on organ of Corti development in the ear (1997) (0)
- Circling, deafness and yellow coat displayed by chromosome 3 mouse mutants yellow submarien (Ysb) and light coat and circling (Lcc) (2002) (0)
- Faculty Opinions recommendation of A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. (2005) (0)
- Deposited in DRO : 13 April 2015 Version of attached le : Published Version Peer-review status of attached le : Peer-reviewed Citation for published item : (2015) (0)
- The Expression Pattern of the Ush1C Protein in the Mouse Eye Suggests Differences in Usher Type 1 Multi Protein Complex Formation Between the Ear and the Eye (2003) (0)
- Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation (2018) (0)
- Contents list. (2018) (0)
- In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear (2023) (0)
- Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss (2023) (0)
- Investigating the Characteristics of Genes and Variants Associated with Self-Reported Hearing Loss in Older Adults in the UK Biobank (2022) (0)
- Faculty Opinions recommendation of Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. (2002) (0)
- Phenotypic Analysis of a New Mouse Model for Genetic Deafness: “Hush Puppy” (2003) (0)
- Activation of Epac has epic effects on diabetic sensory axon regeneration (2013) (0)
- Genetics in otorhinolaryngology /volume editors, Ken Kitamura, Karen P. Steel (2000) (0)
- Positional Cloning of the shaker-1 Gene : A Myosin VII Involved in Sensory Hair Cell Development and Function (1996) (0)
- Characterizing Hearing in Mice (2008) (0)
- Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes (2018) (0)
- Sequencing of the olfactory marker protein gene in normal and shaker-1 mutant mice (2004) (0)
- Mouse genetics for studying mechanisms of deafness and more: an interview with Karen Steel (2011) (0)
- Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank (2022) (0)
- Inner ear abnormalities in the novel transgenic mouse mutant, yellow submarine (ysb) (1999) (0)
- Reversal of an existing hearing loss in Spns2 mutant mice (2023) (0)
- ThePDZ-DomainProteinWhirlinFacilitates MechanosensorySignalinginMammalianProprioceptors (2015) (0)
- Analysis of Fundal Autofluorescence Images in a Cohort of Individuals With Mutations in Ush2a (2007) (0)
- Whirlin function in proprioceptive mechanotransduction (2010) (0)
- Subject Index Vol. 71, Suppl. 2, 2009 (2009) (0)
- An insertional mutation affecting coat colour and vestibular function in mice (1998) (0)
- Faculty Opinions recommendation of Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. (2002) (0)
- Function in Immune System Spns2 Transporter Role of Sphingosine-1-Phosphate (2012) (0)
- Stereocilia Start to Develop Normally , but Then Fuse Together to Form Giant Stereocilia (1999) (0)
- An insertional mutation causing altered coat colour & vestibular dysfunction in mice (1998) (0)
- Explorer Spinster Homolog 2 ( Spns 2 ) Deficiency Causes Early Onset Progressive Hearing Loss (2017) (0)
- Shaky hearing (1998) (0)
- Genetic and physical mapping in the vicinity of the wi locus on mouse chromosome 4 (1997) (0)
- WBP 2 is a novel deafness gene (2016) (0)
- November 2011 DMM Podcast: an interview with Karen Steel (2011) (0)
- Genomic analysis of the mutant locus in the novel transgenic mouse mutant, yellow submarine (ysb) (2001) (0)
- Lessons About Hearing Loss From Mice (2019) (0)
- An essential role for Sox2 in inner ear development (2001) (0)
- Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project (2012) (0)
- A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction (2017) (0)
- Rapid screening for novel bone phenotypes in 100 consecutive lines from the Wellcome Trust Sanger Institute Gene Targeting Programme (2010) (0)
- A genetic approach for disease gene discovery in the mouse (2001) (0)
- Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells (2022) (0)
- Uncovering essential gene function for sensory organ development in the mammalian inner ear (2003) (0)
- Mouse gene list 6 Notes on the map of homologies between mouse and man 9 Map of linkage and synteny homologies between mouse and man 10 Viewpoint : Genetic counselling and research with the deaf (0)
- Correction: Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function (2014) (0)
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme (2022) (0)
- Identification of genetic elements in metabolism by high-throughput mouse phenotyping (2018) (0)
- Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Due to MYO7A Mutation (2012) (0)
- Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1 (2012) (0)
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