Found: 23
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Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
- Published in:
- FEBS Letters, 2017, v. 591, n. 15, p. 2299, doi. 10.1002/1873-3468.12729
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- Article
Development and differentiation of pituitary cells.
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- Microscopy Research & Technique, 1997, v. 39, n. 2, p. 98, doi. 10.1002/(SICI)1097-0029(19971015)39:2<98::AID-JEMT2>3.0.CO;2-S
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- Article
Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.
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- Molecular Therapy, 2014, v. 22, n. 2, p. 265, doi. 10.1038/mt.2013.232
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- Article
Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites.
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- Journal of Cell Biology, 2003, v. 163, n. 3, p. 559, doi. 10.1083/jcb.200302157
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- Article
The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
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- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3773, doi. 10.1093/hmg/ddt228
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- Article
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
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- Human Molecular Genetics, 2005, v. 14, n. 24, p. 3921, doi. 10.1093/hmg/ddi416
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- Article
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.
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- Human Molecular Genetics, 2005, v. 14, n. 3, p. 401, doi. 10.1093/hmg/ddi036
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- Article
Interactions in the network of Usher syndrome type 1 proteins.
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- Human Molecular Genetics, 2005, v. 14, n. 3, p. 347, doi. 10.1093/hmg/ddi031
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- Article
Experimental Evidence for an Early Commitment of Gonadotropin-Releasing Hormone Neurons, with Special Regard to Their Origin from the Ectoderm of Nasal Cavity Presumptive Territory.
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- Neuroendocrinology, 1993, v. 57, n. 6, p. 991, doi. 10.1159/000126490
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- Article
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
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- Nature Genetics, 2003, v. 34, n. 4, p. 421, doi. 10.1038/ng1208
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- Article
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.
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- JARO - Journal of the Association for Research in Otolaryngology, 2021, v. 22, n. 2, p. 95, doi. 10.1007/s10162-020-00781-0
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- Article
Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.816534
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- Article
Targeted disruption of Otog results in deafness and severe imbalance.
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- Nature Genetics, 2000, v. 24, n. 2, p. 139, doi. 10.1038/72793
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- Article
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
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- Nature Genetics, 1999, v. 21, n. 4, p. 363, doi. 10.1038/7693
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- Article
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 709, doi. 10.1007/s00439-022-02448-7
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- Article
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 21, doi. 10.1186/1750-1172-6-21
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- Article
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.
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- EMBO Journal, 2002, v. 21, n. 24, p. 6689, doi. 10.1093/emboj/cdf689
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- Article
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex.
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- EMBO Journal, 2000, v. 19, n. 22, p. 6020, doi. 10.1093/emboj/19.22.6020
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- Article
Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome.
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- Developmental Dynamics, 1998, v. 213, n. 4, p. 486, doi. 10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L
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- Article
MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.
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- 2002
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- Publication type:
- Report
Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges.
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- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2309, doi. 10.3390/jcm9072309
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- Article
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 463, doi. 10.1093/hmg/ddg051
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- Article
Human Usher 1B/Mouse shaker-1: The Retinal Phenotype Discrepancy Explained By The Presence/Absence of Myosin VIIA in The Photoreceptor Cells.
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- Human Molecular Genetics, 1996, v. 5, n. 8, p. 1171, doi. 10.1093/hmg/5.8.1171
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- Article