The Cause of Hereditary Hearing Loss in
DFNB1 region
GJB2 monoallelic variant
hearing loss
next generation sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
01 05 2021
01 05 2021
Historique:
received:
23
03
2021
revised:
27
04
2021
accepted:
28
04
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
31
8
2021
Statut:
epublish
Résumé
Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the
Identifiants
pubmed: 34062854
pii: genes12050684
doi: 10.3390/genes12050684
pmc: PMC8147375
pii:
doi:
Substances chimiques
GJB2 protein, human
0
Connexin 26
127120-53-0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
PLoS One. 2011;6(6):e21665
pubmed: 21738759
PLoS Comput Biol. 2015 Dec 01;11(12):e1004572
pubmed: 26625158
Clin Genet. 2020 Dec;98(6):548-554
pubmed: 32860223
Ann Hum Genet. 2005 Jan;69(Pt 1):9-14
pubmed: 15638823
Chin Med J (Engl). 2017 5th Jan 2017;130(1):88-92
pubmed: 28051029
J Clin Invest. 2013 May;123(5):2094-102
pubmed: 23543054
J Med Genet. 2005 Jul;42(7):588-94
pubmed: 15994881
Am J Hum Genet. 2010 Jul 9;87(1):90-4
pubmed: 20602914
Orphanet J Rare Dis. 2020 Jan 28;15(1):29
pubmed: 31992338
Nat Commun. 2015 Jun 01;6:7256
pubmed: 26028266
Am J Hum Genet. 2003 Dec;73(6):1452-8
pubmed: 14571368
Clin Genet. 2006 May;69(5):410-3
pubmed: 16650079
Biochem Biophys Res Commun. 2009 Nov 13;389(2):354-9
pubmed: 19723508
Hum Mutat. 2019 Oct;40(10):1826-1840
pubmed: 31116475
N Engl J Med. 2002 Jan 24;346(4):243-9
pubmed: 11807148
Genet Test Mol Biomarkers. 2014 Dec;18(12):839-44
pubmed: 25401782
PLoS One. 2018 Jan 2;13(1):e0188578
pubmed: 29293505
Clin Exp Dermatol. 2005 Nov;30(6):688-93
pubmed: 16197390
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Laryngoscope. 2014 Feb;124(2):E34-53
pubmed: 23900770
Hum Genet. 2018 Jul;137(6-7):479-486
pubmed: 29982980
Genome Biol. 2014 Jun 26;15(6):R84
pubmed: 24970577
Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:61S-76S
pubmed: 25999548
Am J Hum Genet. 2006 Jul;79(1):174-9
pubmed: 16773579
J Mol Diagn. 2017 Nov;19(6):905-920
pubmed: 28818680
Laryngoscope. 2014 Mar;124(3):E95-103
pubmed: 23946138
PLoS Comput Biol. 2016 Apr 21;12(4):e1004873
pubmed: 27100738
Bioinformatics. 2016 Apr 15;32(8):1220-2
pubmed: 26647377
Am J Hum Genet. 2018 Jul 5;103(1):74-88
pubmed: 29961571
Eur J Med Genet. 2009 Jul-Aug;52(4):195-200
pubmed: 19101659
N Engl J Med. 2006 May 18;354(20):2151-64
pubmed: 16707752
Clin Genet. 2004 Aug;66(2):152-7
pubmed: 15253766
Hum Mutat. 2018 Nov;39(11):1593-1613
pubmed: 30311386
Bioinformatics. 2009 Nov 1;25(21):2865-71
pubmed: 19561018
Bioinformatics. 2015 Aug 15;31(16):2741-4
pubmed: 25861968
Genome Res. 2011 Jun;21(6):974-84
pubmed: 21324876
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92
pubmed: 24174537
PLoS One. 2013 Sep 06;8(9):e73566
pubmed: 24039984
Clin Genet. 2010 Sep;78(3):267-74
pubmed: 20236118
Hum Genet. 2019 Dec;138(11-12):1275-1286
pubmed: 31586237
Hum Genet. 2016 Apr;135(4):441-450
pubmed: 26969326
Hum Mutat. 2016 Jan;37(1):119-26
pubmed: 26444186
Curr Protoc Bioinformatics. 2014;45:15.6.1-11
pubmed: 25152801