Pages that link to "Q28239757"
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The following pages link to The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene (Q28239757):
Displaying 50 items.
- KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness (Q22008780) (← links)
- A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness (Q22009151) (← links)
- Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D (Q24290695) (← links)
- Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F (Q24291312) (← links)
- Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1 (Q24291758) (← links)
- Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors (Q24292079) (← links)
- FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration (Q24300327) (← links)
- An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1) (Q24317113) (← links)
- Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment (Q24317151) (← links)
- Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (Q24324444) (← links)
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells (Q24338418) (← links)
- Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B) (Q24532492) (← links)
- Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4) (Q24533372) (← links)
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 (Q24535604) (← links)
- OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. (Q24538784) (← links)
- Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family (Q24539185) (← links)
- Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome (Q24539193) (← links)
- Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss (Q24540237) (← links)
- Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance (Q24540320) (← links)
- Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex (Q24597349) (← links)
- Review series: The cell biology of hearing (Q24601353) (← links)
- 2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4 (Q24603242) (← links)
- Autosomal recessive nonsyndromic deafness genes: a review (Q24611997) (← links)
- Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy (Q24646440) (← links)
- Focusing on the genetics of hearing: you ain't heard nothin' yet. (Q24791942) (← links)
- Genetics of Nonsyndromic Congenital Hearing Loss (Q26753842) (← links)
- The role of primary cilia in the development and disease of the retina (Q26822720) (← links)
- autosomal recessive nonsyndromic deafness 2 (Q28024602) (← links)
- Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction (Q28117054) (← links)
- Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2 (Q28118979) (← links)
- Unconventional myosin VIIA is a novel A-kinase-anchoring protein (Q28140474) (← links)
- Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations (Q28185082) (← links)
- Biochemical and molecular characterization of diseases linked to motor proteins (Q28209818) (← links)
- A human homologue of Drosophila kelch associates with myosin-VIIa in specialized adhesion junctions (Q28211256) (← links)
- Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene (Q28253373) (← links)
- Mapping and Characterization of a Novel Cochlear Gene in Human and in Mouse: A Positional Candidate Gene for a Deafness Disorder, DFNA9 (Q28259774) (← links)
- A mutation in PDS causes non-syndromic recessive deafness (Q28264560) (← links)
- Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene (Q28506758) (← links)
- A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment (Q28508053) (← links)
- Evaluation of inner ear histology and auditory brainstem response in Wriggle Mouse Sagami (Q28509445) (← links)
- Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice (Q28512445) (← links)
- Characterization of the motor activity of mammalian myosin VIIA (Q28566322) (← links)
- Elongation of hair cell stereocilia is defective in the mouse mutant whirler (Q28585988) (← links)
- Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations (Q28586011) (← links)
- Molecular Genetic Dissection of Mouse Unconventional Myosin-VA: Head Region Mutations (Q28587966) (← links)
- Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss (Q28590867) (← links)
- A new mouse insertional mutation that causes sensorineural deafness and vestibular defects (Q28591820) (← links)
- The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals (Q28830903) (← links)
- Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. (Q29347270) (← links)
- Retinitis pigmentosa (Q29616538) (← links)