OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Thoenes, Michaela ^a   Zimmermann, Ulrike ^b   Ebermann, Inga ^a   Ptok, Martin ^c   Lewis, Morag A ^d   Thiele, Holger ^e   Morlot, Susanne ^c   Hess, Markus M ^f   Gal, Andreas ^f   Eisenberger, Tobias ^g   Bergmann, Carsten ^g,h   Nürnberg, Gudrun ^e   Nürnberg, Peter ^e,i   Steel, Karen P ^d   Knipper, Marlies ^b   Bolz, Hanno Jörn ^a,g  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g Center for Human Genetics   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Autosomal dominant hearing loss; DFNA67; OSBPL2

Indexed keywords

AIR CONDUCTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE CONDUCTION; CHROMOSOME; CHROMOSOME 12; CHROMOSOME 20; COMPUTER INTERFACE; CONTROLLED STUDY; EXOME; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE LOCUS; GENETIC HETEROGENEITY; GENOTYPE; HEARING IMPAIRMENT; IMMUNOHISTOCHEMISTRY; IMPEDANCE AUDIOMETRY; INNER HAIR CELL; LINKAGE ANALYSIS; MOUSE; NEXT GENERATION SEQUENCING; NONHUMAN; OUTER HAIR CELL; PROTEIN EXPRESSION; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STEREOCILIUM; TISSUE PREPARATION; UPREGULATION; X CHROMOSOME; ADOLESCENT; ADULT; AGED; ANIMAL; COCHLEAR HAIR CELL; FEMALE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; HUMAN; INFANT; MALE; METABOLISM; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

MESSENGER RNA; MICRORNA; MIRN96 MICRORNA, MOUSE; OSBPL2 PROTEIN, HUMAN; STEROID RECEPTOR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANIMALS; CHILD, PRESCHOOL; DEAFNESS; FEMALE; GENE EXPRESSION REGULATION; GENETIC LINKAGE; HAIR CELLS, AUDITORY; HUMANS; INFANT; MALE; MICE; MICRORNAS; MIDDLE AGED; PEDIGREE; RECEPTORS, STEROID; RNA, MESSENGER; STEREOCILIA; YOUNG ADULT;

EID: 84924187378     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0238-5     Document Type: Article

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