| scholarly article | Q13442814 |
| P2093 | author name string | J Walsh | |
| P Mburu | |||
| J Kendrick-Jones | |||
| M J Cope | |||
| S D Brown | |||
| X Z Liu | |||
| K P Steel | |||
| P2860 | cites work | Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells | Q24312049 |
| Defective myosin VIIA gene responsible for Usher syndrome type 1B | Q24314638 | ||
| Three-dimensional structure of myosin subfragment-1: a molecular motor | Q27731679 | ||
| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness | Q28115871 | ||
| A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene | Q28240043 | ||
| Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B | Q28294301 | ||
| Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB | Q28301792 | ||
| A type VII myosin encoded by the mouse deafness gene shaker-1 | Q28512902 | ||
| Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China | Q39386241 | ||
| Genetics of deafness | Q41103360 | ||
| Nonsyndromic hearing loss: an analysis of audiograms. | Q50524582 | ||
| Audiometric Identification of Normal Hearing Carriers of Genes for Deafness | Q50661680 | ||
| Conservation within the myosin motor domain: implications for structure and function | Q57079460 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | deafness | Q12133 |
| P304 | page(s) | 188-90 | |
| P577 | publication date | 1997-06-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Mutations in the myosin VIIA gene cause non-syndromic recessive deafness | |
| P478 | volume | 16 |
| Q50123403 | A class VII unconventional myosin is required for phagocytosis |
| Q34139587 | A genetic approach to understanding auditory function |
| Q28211256 | A human homologue of Drosophila kelch associates with myosin-VIIa in specialized adhesion junctions |
| Q92092355 | A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed |
| Q22009083 | A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation |
| Q22009151 | A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness |
| Q28264560 | A mutation in PDS causes non-syndromic recessive deafness |
| Q30481050 | A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells |
| Q50503733 | A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9. |
| Q37498508 | A transgenic insertional inner ear mutation on mouse chromosome 1. |
| Q30454015 | Actin in hair cells and hearing loss |
| Q38869557 | Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service |
| Q30665416 | Advances in hereditary deafness |
| Q24317113 | An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1) |
| Q42028636 | An update on the genetics of usher syndrome |
| Q50356353 | Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. |
| Q30500494 | Anatomical and molecular design of the Drosophila antenna as a flagellar auditory organ |
| Q34603432 | Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment |
| Q37384216 | Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. |
| Q29619783 | Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses |
| Q30502974 | At the speed of sound: gene discovery in the auditory system |
| Q34065954 | Auditory and vestibular mouse mutants: models for human deafness |
| Q53437516 | Auditory hair cell precursors immortalized from the mammalian inner ear. |
| Q36834193 | Auditory transduction in the mouse |
| Q28253373 | Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene |
| Q24611997 | Autosomal recessive nonsyndromic deafness genes: a review |
| Q33639128 | Beginning of a molecular era in hearing and deafness |
| Q50452999 | Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus. |
| Q34134342 | CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. |
| Q30499937 | Cargo binding activates myosin VIIA motor function in cells |
| Q38619808 | Causes and Consequences of Sensory Hair Cell Damage and Recovery in Fishes |
| Q57304672 | Chapter 22: Molecular Basis of Deafness due to Mutations in the Connexin26 Gene (GJB2) |
| Q34386120 | Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population |
| Q28566322 | Characterization of the motor activity of mammalian myosin VIIA |
| Q50501384 | Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. |
| Q89571583 | Cochlear Implantation From the Perspective of Genetic Background |
| Q47151425 | Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients |
| Q35074263 | Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis |
| Q35839601 | Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss |
| Q36027549 | Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients |
| Q50498794 | Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings. |
| Q47991729 | Connexin 26 gene linked to a dominant deafness |
| Q74242328 | Connexin 26 gene mutation and autosomal recessive deafness |
| Q28117673 | Connexin-26 mutations in sporadic and inherited sensorineural deafness |
| Q35020837 | Contig maps and genomic sequencing identify candidate genes in the usher 1C locus |
| Q50474830 | DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. |
| Q30476608 | Deafness and retinal degeneration in a novel USH1C knock-in mouse model |
| Q47138994 | Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss |
| Q43502606 | Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology |
| Q37004836 | Development of a genotyping microarray for Usher syndrome |
| Q34508656 | Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study |
| Q73256820 | Dominant modifier DFNM1 suppresses recessive deafness DFNB26 |
| Q46895770 | Drosophila myosin VIIA is a high duty ratio motor with a unique kinetic mechanism |
| Q37710671 | Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A. |
| Q30884957 | ENU mutagenesis and the search for deafness genes |
| Q43937639 | ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis |
| Q92735322 | Early functional alterations in membrane properties and neuronal degeneration are hallmarks of progressive hearing loss in NOD mice |
| Q50464854 | Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. |
| Q35195026 | Electrophysiological analysis of visual function in mutant mice. |
| Q28585988 | Elongation of hair cell stereocilia is defective in the mouse mutant whirler |
| Q61798129 | Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population |
| Q44857505 | Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China |
| Q24539185 | Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family |
| Q47376524 | Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians |
| Q28749118 | Finding new genes for non-syndromic hearing loss through an in silico prioritization study |
| Q24791942 | Focusing on the genetics of hearing: you ain't heard nothin' yet. |
| Q50491496 | From DFNB2 to Usher syndrome: variable expressivity of the same disease. |
| Q36674599 | From vivarium to bedside: lessons learned from animal models. |
| Q38393019 | Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness |
| Q97587562 | Gene therapy development in hearing research in China |
| Q37108023 | Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis |
| Q34144384 | Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. |
| Q34350636 | Genetic models of mechanotransduction: the nematode Caenorhabditis elegans |
| Q64950087 | Genetic screening revealed usher syndrome in a paediatric Chinese patient. |
| Q37727784 | Genetics and pathological mechanisms of Usher syndrome |
| Q36271544 | Genetics of Hearing Loss: Syndromic |
| Q26753842 | Genetics of Nonsyndromic Congenital Hearing Loss |
| Q36367641 | Genetics of deafness: recent advances and clinical implications |
| Q38869020 | Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21. |
| Q36690003 | Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases |
| Q49045449 | Genomic structure of the human unconventional myosin VI gene |
| Q74557667 | Hair hear! |
| Q44883231 | Haplotype analysis of the USH1D locus and genotype-phenotype correlations |
| Q34041534 | Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms |
| Q30453298 | Hearing loss: a common disorder caused by many rare alleles |
| Q50316944 | Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. |
| Q34390891 | Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion |
| Q35550640 | Human Nonsyndromic Sensorineural Deafness |
| Q33346003 | Human hereditary hearing impairment: mouse models can help to solve the puzzle |
| Q42800641 | Human myosin VIIa is a very slow processive motor protein on various cellular actin structures |
| Q34576163 | Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). |
| Q47280348 | Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). |
| Q48018820 | Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. |
| Q49764448 | Identification of a novel MYO7A mutation in Usher syndrome type 1. |
| Q40102428 | In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome |
| Q35266356 | Inherited deafness in childhood--the genetic revolution unmasks the clinical challenge |
| Q28593604 | Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome |
| Q34516358 | Inner ear morphology is perturbed in two novel mouse models of recessive deafness. |
| Q61803531 | Integrative system genetic analysis reveals mRNA-lncRNA network associated with mouse spontaneous lung cancer susceptibility |
| Q24541428 | Life cycle of connexins in health and disease |
| Q33680697 | Linkage analysis in Usher syndrome type I (USH1) families from Spain |
| Q24535864 | MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss |
| Q37004704 | MYO7A mutation screening in Usher syndrome type I patients from diverse origins |
| Q50490176 | Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. |
| Q93601641 | Medical genetics: advances in brief |
| Q28590867 | Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss |
| Q24540237 | Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss |
| Q35221217 | Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice |
| Q28587966 | Molecular genetic dissection of mouse unconventional myosin-VA: head region mutations |
| Q28507012 | Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations |
| Q47609854 | Molecular genetics of human retinal dystrophies |
| Q62936883 | Motors, channels and the sounds of silence |
| Q34838323 | Mouse models for human deafness: current tools for new fashions |
| Q35172443 | Mouse models for neurological disease |
| Q28506758 | Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene |
| Q52531754 | Mouse models of genetic disease: new approaches, new paradigms. |
| Q24301501 | Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss |
| Q29347270 | Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. |
| Q35879458 | Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. |
| Q42724509 | Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment |
| Q50453784 | Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. |
| Q38885154 | Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness |
| Q103036299 | Mutations in Drosophila crinkled/Myosin VIIA disrupt denticle morphogenesis |
| Q28117054 | Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction |
| Q24533348 | Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. |
| Q37219051 | Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. |
| Q33912298 | Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. |
| Q24539193 | Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome |
| Q24532041 | Mutations of MYO6 are associated with recessive deafness, DFNB37 |
| Q24291312 | Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F |
| Q39005661 | MyTH4-FERM myosins in the assembly and maintenance of actin-based protrusions |
| Q24532492 | Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B) |
| Q30494497 | Myosin VIIA, important for human auditory function, is necessary for Drosophila auditory organ development |
| Q30468706 | Myosin light-chain kinase is necessary for membrane homeostasis in cochlear inner hair cells |
| Q30513859 | Myosin-X functions in polarized epithelial cells |
| Q34322246 | Myosin-X provides a motor-based link between integrins and the cytoskeleton. |
| Q33725399 | Myosins and deafness. |
| Q33866577 | Myosins: a diverse superfamily |
| Q24291758 | Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1 |
| Q28586324 | NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development |
| Q38384722 | New treatment options for hearing loss. |
| Q60307553 | Non-Syndromic Hearing Loss and High-Throughput Strategies to Decipher Its Genetic Heterogeneity |
| Q34747004 | Non-syndromic autosomal-dominant deafness |
| Q50498994 | Non-syndromic hearing impairment: gene linkage and cloning. |
| Q33339198 | Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. |
| Q34976308 | Nonsyndromic hereditary hearing loss |
| Q24338418 | Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells |
| Q33618805 | Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. |
| Q33637518 | Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss |
| Q28541416 | Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family |
| Q50435636 | Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China |
| Q33881296 | Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss |
| Q24538784 | OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. |
| Q24313229 | Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) |
| Q35964553 | Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family |
| Q24540320 | Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance |
| Q30497402 | Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. |
| Q30492669 | Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation |
| Q33942183 | Recent advances in the molecular basis of inherited photoreceptor degeneration |
| Q95327465 | Recent development of AAV-based gene therapies for inner ear disorders |
| Q28586011 | Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations |
| Q50470214 | Refinement of the DFNA41 locus and candidate genes analysis. |
| Q28118979 | Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2 |
| Q34208386 | Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness. |
| Q29616538 | Retinitis pigmentosa |
| Q24601353 | Review series: The cell biology of hearing |
| Q35885569 | SHIELD: an integrative gene expression database for inner ear research. |
| Q33593583 | Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran |
| Q43981168 | Searching for evidence of DFNB2. |
| Q89734622 | Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss |
| Q50507309 | Sounding out a novel sulphate transporter. |
| Q28512445 | Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice |
| Q33804884 | Strain background effects and genetic modifiers of hearing in mice |
| Q27023615 | Structures of usher syndrome 1 proteins and their complexes |
| Q52641395 | Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. |
| Q28547462 | Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss |
| Q28830903 | The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals |
| Q47930284 | The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa |
| Q45073728 | The Shaker-1 Mouse Myosin VIIa Deafness Mutation Results in a Severely Reduced Rate of the ATP Hydrolysis Step |
| Q36761749 | The changing face of Usher syndrome: clinical implications |
| Q30365318 | The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss. |
| Q35879586 | The genetic bases for non-syndromic hearing loss among Chinese |
| Q34685505 | The kinetic mechanism of mouse myosin VIIA |
| Q34202837 | The molecular genetics of Usher syndrome |
| Q40840643 | The molecular genetics of inherited deafness--current and future applications. |
| Q27011868 | The myosin superfamily at a glance. |
| Q33631106 | The role of mouse mutants in the identification of human hereditary hearing loss genes |
| Q30500469 | Towards a molecular understanding of Drosophila hearing |
| Q41068730 | Trapping genes expressed in the developing mouse inner ear. |
| Q50501895 | Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. |
| Q50507810 | Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. |
| Q28140474 | Unconventional myosin VIIA is a novel A-kinase-anchoring protein |
| Q33855126 | Unconventional myosins and the genetics of hearing loss |
| Q43104887 | Unconventional myosins, the basis for deafness in mouse and man. |
| Q35607382 | Use of mouse genetics for studying inner ear development |
| Q24535604 | Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 |
| Q92113056 | Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina |
| Q30389509 | Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities |
| Q24646440 | Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy |
| Q33936748 | Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation |
| Q50469808 | [Molecular genetic study of Usher syndrome in Spain] |
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