Germline-Derived Gain-of-Function Variants of Gs
Chromogranins
/ genetics
Cohort Studies
Female
GTP-Binding Protein alpha Subunits, Gs
/ genetics
Gain of Function Mutation
/ genetics
Genetic Diseases, X-Linked
/ diagnosis
Genetic Predisposition to Disease
Germ-Line Mutation
/ genetics
Humans
Inappropriate ADH Syndrome
/ diagnosis
Male
Phenotype
Prognosis
Rare Diseases
Exome Sequencing
genetic renal disease
molecular genetics
signaling
vasopressin
water transport
water-electrolyte balance
Journal
Journal of the American Society of Nephrology : JASN
ISSN: 1533-3450
Titre abrégé: J Am Soc Nephrol
Pays: United States
ID NLM: 9013836
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
27
12
2018
accepted:
02
02
2019
pubmed:
10
4
2019
medline:
28
2
2020
entrez:
10
4
2019
Statut:
ppublish
Résumé
The stimulatory G-protein We performed whole-exome sequencing in two families with dominantly inherited nephrogenic syndrome of inappropriate antidiuresis (NSIAD) as a salient phenotype after excluding a gain-of-function variant of Whole-exome sequencing revealed two This study shows that germline-derived gain-of-function rare variants of
Sections du résumé
BACKGROUND
The stimulatory G-protein
METHODS
We performed whole-exome sequencing in two families with dominantly inherited nephrogenic syndrome of inappropriate antidiuresis (NSIAD) as a salient phenotype after excluding a gain-of-function variant of
RESULTS
Whole-exome sequencing revealed two
CONCLUSIONS
This study shows that germline-derived gain-of-function rare variants of
Identifiants
pubmed: 30962325
pii: ASN.2018121268
doi: 10.1681/ASN.2018121268
pmc: PMC6493982
doi:
Substances chimiques
Chromogranins
0
GNAS protein, human
EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
877-889Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2019 by the American Society of Nephrology.
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