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
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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