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Genome-Wide siRNA Screen Identifies Complementary Signaling Pathways Involved in Listeria Infection and Reveals Different Actin Nucleation Mechanisms during Listeria Cell Invasion and Actin Comet Tail Formation

Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

© Research

Publication : Journal of medical genetics

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Team: Auditory Therapies Innovation Lab

Member: Christine Petit

Scientific Fields

Diseases

Organisms

Applications

Technique

Published in Journal of medical genetics - 18 May 2015

Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q

Link to Pubmed [PMID] – 25986071

J. Med. Genet. 2015 May;

Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified.

Published on: 18 May 2015