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

被引：0

作者：

Michaela Thoenes

Ulrike Zimmermann

Inga Ebermann

Martin Ptok

Morag A Lewis

Holger Thiele

Susanne Morlot

Markus M Hess

Andreas Gal

Tobias Eisenberger

Carsten Bergmann

Gudrun Nürnberg

Peter Nürnberg

Karen P Steel

Marlies Knipper

Hanno Jörn Bolz

机构：

[1] Institute of Human Genetics,Molecular Physiology of Hearing, Hearing Research Centre Tübingen (THRC), Department of Otolaryngology

[2] University Hospital of Cologne,Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC)

[3] University of Tübingen,Department of Voice, Speech and Hearing Disorders

[4] Department of Phoniatrics and Pediatric Audiology,Department of Human Genetics

[5] Hannover Medical School,Renal Division, Department of Medicine

[6] Wolfson Centre for Age-Related Diseases,undefined

[7] King’s College London,undefined

[8] University of Cologne,undefined

[9] Institute for Human Genetics,undefined

[10] Hannover Medical School,undefined

[11] University Medical Center Hamburg-Eppendorf,undefined

[12] University Medical Center Hamburg-Eppendorf,undefined

[13] Center for Human Genetics,undefined

[14] Bioscientia,undefined

[15] University Medical Center Freiburg,undefined

[16] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD),undefined

[17] University of Cologne,undefined

来源：

Orphanet Journal of Rare Diseases | / 10卷

关键词：

Autosomal dominant hearing loss;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 4 条

[1] OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Thoenes, Michaela
Zimmermann, Ulrike
Ebermann, Inga
Ptok, Martin
Lewis, Morag A.
Thiele, Holger
Morlot, Susanne
Hess, Markus M.
Gal, Andreas
Eisenberger, Tobias
Bergmann, Carsten
Nuernberg, Gudrun
Nuernberg, Peter
Steel, Karen P.
Knipper, Marlies
Bolz, Hanno Joern
ORPHANET JOURNAL OF RARE DISEASES, 2015, 10
[2] Inner hair cell and neuron degeneration contribute to hearing loss in a DFNA2-like mouse model
Carignano, C.
Barila, E.
Rias, E.
Dionisio, L.
Aztiria, E.
Spitzmaul, G.
JOURNAL OF NEUROCHEMISTRY, 2019, 150 : 156 - 156
[3] Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
Zheng, Jing
Miller, Katharine K.
Yang, Tao
Hildebrand, Michael S.
Shearer, A. Eliot
DeLuca, Adam P.
Scheetz, Todd E.
Drummond, Jennifer
Scherer, Steve E.
Legan, P. Kevin
Goodyear, Richard J.
Richardson, Guy P.
Cheatham, Mary Ann
Smith, Richard J.
Dallos, Peter
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (10) : 4218 - 4223
[4] Inner Hair Cell and Neuron Degeneration Contribute to Hearing Loss in a DFNA2-Like Mouse Model
Carignano, Camila
Barila, Esteban Pablo
Rias, Ezequiel Ignacio
Dionisio, Leonardo
Aztiria, Eugenio
Spitzmaul, Guillermo
NEUROSCIENCE, 2019, 410 : 202 - 216

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