A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Authors
Keywords
Deafness, Nonsense mutation, Membrane proteins, HEK 293 cells, Genetic loci, Audiology, Sequence alignment, Cell membranes
Journal
PLoS Genetics
Volume 11, Issue 7, Pages e1005386
Publisher
Public Library of Science (PLoS)
Online
2015-07-22
DOI
10.1371/journal.pgen.1005386
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Genotype phenotype correlations for hearing impairment: Approaches to management
- (2014) L. H. Hoefsloot et al. CLINICAL GENETICS
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- The promise of whole-exome sequencing in medical genetics
- (2013) Bahareh Rabbani et al. JOURNAL OF HUMAN GENETICS
- Mutation of Foxo3 Causes Adult Onset Auditory Neuropathy and Alters Cochlear Synapse Architecture in Mice
- (2013) F. Gilels et al. JOURNAL OF NEUROSCIENCE
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- Apical targeting and endocytosis of the sialomucin endolyn are essential for establishment of zebrafish pronephric kidney function
- (2012) Di Mo et al. JOURNAL OF CELL SCIENCE
- Adeno-associated virus-delivered polycistronic microRNA-clusters for knockdown of vascular endothelial growth factor in vivo
- (2012) Maria Pihlmann et al. JOURNAL OF GENE MEDICINE
- High-throughput sequencing to decipher the genetic heterogeneity of deafness
- (2012) Zippora Brownstein et al. GENOME BIOLOGY
- Hereditary hearing loss: From human mutation to mechanism
- (2011) Danielle R. Lenz et al. HEARING RESEARCH
- SorLA regulates the activity of lipoprotein lipase by intracellular trafficking
- (2011) S. C. Klinger et al. JOURNAL OF CELL SCIENCE
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology
- (2009) Amiel A. Dror et al. Annual Review of Genetics
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources
- (2009) Chunlei Wu et al. GENOME BIOLOGY
- Sorting of lysosomal proteins
- (2008) Thomas Braulke et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Regulation of Myoblast Motility and Fusion by the CXCR4-associated Sialomucin, CD164
- (2008) Gyu-Un Bae et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Jxc1/Sobp, Encoding a Nuclear Zinc Finger Protein, Is Critical for Cochlear Growth, Cell Fate, and Patterning of the Organ of Corti
- (2008) Z. Chen et al. JOURNAL OF NEUROSCIENCE
- Coordinated protein sorting, targeting and distribution in polarized cells
- (2008) Ira Mellman et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now