A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment-Reference-Cited by-同舟云学术

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

Published:2015-07-21 Issue:7 Volume:11 Page:e1005386
ISSN:1553-7404
Container-title:PLOS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Nyegaard Mette,Rendtorff Nanna D.,Nielsen Morten S.,Corydon Thomas J.,Demontis Ditte,Starnawska Anna,Hedemand Anne,Buniello Annalisa,Niola Francesco,Overgaard Michael T.,Leal Suzanne M.,Ahmad Wasim,Wikman Friedrik P.,Petersen Kirsten B.,Crüger Dorthe G.,Oostrik Jaap,Kremer Hannie,Tommerup Niels,Frödin Morten,Steel Karen P.,Tranebjærg Lisbeth,Børglum Anders D.

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference39 articles.

1. Genotype phenotype correlations for hearing impairment: approaches to management;LH Hoefsloot;Clin Genet,2014

2. Hearing loss: mechanisms revealed by genetics and cell biology;AA Dror;Annu Rev Genet,2009

3. High-throughput sequencing to decipher the genetic heterogeneity of deafness;Z Brownstein;Genome Biol,2012

4. The promise of whole-exome sequencing in medical genetics;B Rabbani;J Hum Genet,2014

5. Hereditary hearing loss: from human mutation to mechanism;DR Lenz;Hear Res,2011

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genomic Structure and Molecular Characterization of Toll-like Receptors in Black Scraper Thamnaconus Modestus and Their Expression Response to Two Types of Pathogens;Marine Biotechnology;2023-08-11

2. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

3. Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology;Genes & Genomics;2022-12-01

4. Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss;Human Genetics;2022-03-07

5. Comprehensive Analysis of Human Cytomegalovirus- and HIV-Mediated Plasma Membrane Remodeling in Macrophages;mBio;2021-08-31