The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Alport syndrome
COL4A3
COL4A4
COL4A5
type-IV-collagen-related nephropathy
Journal
Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047
Informations de publication
Date de publication:
2022
2022
Historique:
received:
31
05
2022
accepted:
29
07
2022
entrez:
19
9
2022
pubmed:
20
9
2022
medline:
20
9
2022
Statut:
epublish
Résumé
Disease-causing variants in
Identifiants
pubmed: 36117978
doi: 10.3389/fmed.2022.957733
pmc: PMC9470833
doi:
Types de publication
Journal Article
Langues
eng
Pagination
957733Informations de copyright
Copyright © 2022 Ćomić, Riedhammer, Günthner, Schaaf, Richthammer, Simmendinger, Kieffer, Berutti, Tasic, Abazi-Emini, Nushi-Stavileci, Putnik, Stajic, Lungu, Gross, Renders, Heemann, Braunisch, Meitinger and Hoefele.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
N Engl J Med. 2003 Jun 19;348(25):2543-56
pubmed: 12815141
Kidney Int Rep. 2018 Aug 22;3(6):1239-1241
pubmed: 30450445
J Am Soc Nephrol. 2010 May;21(5):876-83
pubmed: 20378821
Pediatr Nephrol. 2012 Jan;27(1):41-6
pubmed: 21380623
Nephrol Dial Transplant. 1996 Sep;11(9):1829-34
pubmed: 8918631
Nephrol Dial Transplant. 2022 Jan 12;:
pubmed: 35022790
Nephrol Dial Transplant. 2002 Jul;17(7):1218-27
pubmed: 12105244
Am J Kidney Dis. 2021 Oct;78(4):560-570.e1
pubmed: 33838161
Clin Exp Nephrol. 2017 Oct;21(5):877-883
pubmed: 27796712
J Am Soc Nephrol. 2003 Oct;14(10):2603-10
pubmed: 14514738
Pediatr Nephrol. 2016 Jun;31(6):941-55
pubmed: 26809805
Kidney Int. 2020 Jun;97(6):1275-1286
pubmed: 32299679
Clin Genet. 2021 Jan;99(1):143-156
pubmed: 33040356
Clin Kidney J. 2020 Feb 10;13(6):1025-1036
pubmed: 33391746
Clin Exp Nephrol. 2020 Aug;24(8):651-656
pubmed: 32232700
J Med Genet. 2015 Mar;52(3):163-74
pubmed: 25575550
Bioinformatics. 2012 Nov 1;28(21):2747-54
pubmed: 22942019
Front Med (Lausanne). 2022 May 06;9:865034
pubmed: 35602506
J Am Soc Nephrol. 2007 Nov;18(11):3004-16
pubmed: 17942953
Hum Mutat. 2018 Nov;39(11):1517-1524
pubmed: 30192042
Kidney Int. 2014 Dec;86(6):1253-9
pubmed: 25229338
J Am Soc Nephrol. 2021 Sep;32(9):2273-2290
pubmed: 34400539
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
J Am Soc Nephrol. 2006 Mar;17(3):813-22
pubmed: 16467446
J Am Soc Nephrol. 2013 Feb;24(3):364-75
pubmed: 23349312
Clin Genet. 2017 Jul;92(1):34-44
pubmed: 27859054
Genet Med. 2011 Jul;13(7):680-5
pubmed: 21681106
Int J Mol Sci. 2019 Jan 26;20(3):
pubmed: 30691124
Matrix Biol. 2018 Oct;71-72:250-261
pubmed: 29673759
J Am Soc Nephrol. 2000 Apr;11(4):649-657
pubmed: 10752524
Genet Med. 2014 Dec;16(12):962-71
pubmed: 24901348
Am J Kidney Dis. 2021 Feb;77(2):272-279
pubmed: 32712016
Front Pediatr. 2018 Jun 12;6:171
pubmed: 29946535
Kidney Int. 2003 Oct;64(4):1169-78
pubmed: 12969134
Nat Commun. 2017 Jun 12;8:15824
pubmed: 28604674