Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Adolescent
Adult
Child
Child, Preschool
Female
Genetic Association Studies
Genetic Predisposition to Disease
Goiter, Nodular
/ epidemiology
Haplotypes
/ genetics
Hearing Loss, Sensorineural
/ epidemiology
Humans
Infant
Male
Mutation
Myosin Type V
/ genetics
Sulfate Transporters
/ genetics
Exome Sequencing
Young Adult
Pendred syndrome
Whole-Exome Sequencing
genotype-phenotype correlation
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
01 10 2021
01 10 2021
Historique:
received:
07
09
2021
revised:
27
09
2021
accepted:
29
09
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
10
2
2022
Statut:
epublish
Résumé
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism.
Identifiants
pubmed: 34680964
pii: genes12101569
doi: 10.3390/genes12101569
pmc: PMC8535891
pii:
doi:
Substances chimiques
MYO5C protein, human
0
SLC26A4 protein, human
0
Sulfate Transporters
0
Myosin Type V
EC 3.6.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
J Cell Sci. 2002 Mar 1;115(Pt 5):991-1004
pubmed: 11870218
N Engl J Med. 2002 Jan 24;346(4):243-9
pubmed: 11807148
BMC Bioinformatics. 2015 Apr 19;16:123
pubmed: 25928477
Int J Pediatr Otorhinolaryngol. 2017 Oct;101:254-258
pubmed: 28780189
Hum Mol Genet. 1998 Jul;7(7):1105-12
pubmed: 9618167
Hear Res. 2018 Dec;370:181-188
pubmed: 30390570
Hum Mutat. 2019 Aug;40(8):1172-1180
pubmed: 31033086
Cell Discov. 2020 Aug 10;6:55
pubmed: 32818062
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Sci Rep. 2019 Aug 19;9(1):11976
pubmed: 31427586
Curr Opin Otolaryngol Head Neck Surg. 2017 Oct;25(5):378-384
pubmed: 28697000
Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90
pubmed: 20298745
Hum Mutat. 2020 Jan;41(1):316-331
pubmed: 31599023
Turk Arch Otorhinolaryngol. 2020 Dec;58(4):220-226
pubmed: 33554196
Nucleic Acids Res. 2015 Jul 1;43(W1):W401-7
pubmed: 25969446
Nucleic Acids Res. 2003 Jul 1;31(13):3812-4
pubmed: 12824425
Acta Otorhinolaryngol Ital. 2005 Aug;25(4):233-9
pubmed: 16482981
J Med Genet. 1999 Aug;36(8):595-8
pubmed: 10465108
Nucleic Acids Res. 2014 Dec 16;42(22):13534-44
pubmed: 25416802
Otolaryngol Head Neck Surg. 2009 Apr;140(4):552-8
pubmed: 19328346
Eur Ann Otorhinolaryngol Head Neck Dis. 2010 Mar;127(1):7-10
pubmed: 20822748
Nature. 2021 Aug;596(7873):583-589
pubmed: 34265844
Int J Mol Sci. 2018 Jan 10;19(1):
pubmed: 29320412
Eur J Endocrinol. 2015 Feb;172(2):217-26
pubmed: 25394566
Cell Rep. 2017 Jan 3;18(1):68-81
pubmed: 28052261
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Commun. 2020 Mar 12;11(1):1343
pubmed: 32165640
Hum Genet. 2021 Aug 3;:
pubmed: 34345941
Hear Res. 2019 Sep 15;381:107769
pubmed: 31387071
Acta Otolaryngol. 2007 Dec;127(12):1292-7
pubmed: 17851929
Horm Metab Res. 2004 Sep;36(9):645-9
pubmed: 15486817
Eur J Hum Genet. 2020 May;28(5):587-596
pubmed: 31827275
Eur Arch Otorhinolaryngol. 2021 Jul;278(7):2305-2312
pubmed: 32910226
Hum Mutat. 1999;14(6):520-6
pubmed: 10571950
Biomed Res Int. 2015;2015:696281
pubmed: 26236732
Bioinformatics. 2015 Mar 1;31(5):761-3
pubmed: 25338716
Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1495-9
pubmed: 23838540
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):213-224
pubmed: 28648509
Mol Biol Cell. 2009 Nov;20(21):4471-88
pubmed: 19741097
Adv Exp Med Biol. 2020;1239:317-330
pubmed: 32451864
Clin Endocrinol (Oxf). 1987 Mar;26(3):273-80
pubmed: 3308184
Biochimie. 2017 Jan;132:109-120
pubmed: 27771369
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928