Distinct expression and function of whirlin isoforms in the inner ear and retina: An insight into pathogenesis of USH2D and DFNB31

Human Molecular Genetics

Volumn 24, Issue 21, 2015, Pages 6213-6228

  Mathur, Pranav Dinesh ^a   Zou, Junhuang ^a   Zheng, Tihua ^a   Almishaal, Ali ^b   Wang, Yong ^a   Chen, Qian ^a   Wang, Le ^a,c   Vashist, Deepti ^a   Brown, Steve ^d   Park, Albert ^a   Yang, Jun ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c JILIN UNIVERSITY   (China)

^d MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG; WHIRLIN; MEMBRANE PROTEIN; WHRN PROTEIN, MOUSE;

ADULT; AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARBOXY TERMINAL SEQUENCE; COCHLEA; CONTROLLED STUDY; DEAFBLINDNESS; DFNB31 GENE; DISEASE SEVERITY; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; INNER EAR; INNER HAIR CELL; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; QUALITY OF LIFE; RETINA; RETINA DEGENERATION; STEREOCILIUM; USH2D GENE; USHER SYNDROME; ANIMAL; BIOSYNTHESIS; COCHLEAR HAIR CELL; GENETICS; METABOLISM; MUTANT MOUSE STRAIN; MUTATION; PATHOLOGY; PERCEPTION DEAFNESS; PHYSIOLOGY;

ANIMALS; COCHLEA; HAIR CELLS, AUDITORY; HEARING LOSS, SENSORINEURAL; MEMBRANE PROTEINS; MICE; MICE, MUTANT STRAINS; MUTATION; PROTEIN ISOFORMS; RETINA; RNA, MESSENGER; STEREOCILIA; USHER SYNDROMES;

EID: 84949292879     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv339     Document Type: Article

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