Expanding the genotypic spectrum of
chronic constipation
hypoperistalsis
ileus
intestinal pseudo-obstruction
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
received:
11
01
2021
accepted:
30
03
2021
pubmed:
23
4
2021
medline:
15
12
2021
entrez:
22
4
2021
Statut:
epublish
Résumé
Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle γ-actin gene (
Identifiants
pubmed: 33883208
pii: mcs.a006085
doi: 10.1101/mcs.a006085
pmc: PMC8208046
pii:
doi:
Substances chimiques
ACTG2 protein, human
0
Actins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2021 James et al.; Published by Cold Spring Harbor Laboratory Press.
Références
Hum Mol Genet. 2016 Feb 1;25(3):571-83
pubmed: 26647307
Gastroenterology. 2012 Dec;143(6):1482-1491.e3
pubmed: 22960657
Mol Cytogenet. 2013 Sep 20;6(1):38
pubmed: 24053112
Neuromuscul Disord. 2009 Jan;19(1):6-16
pubmed: 18976909
Hum Mutat. 2009 Sep;30(9):1267-77
pubmed: 19562689
PLoS Genet. 2014 Mar 27;10(3):e1004258
pubmed: 24676022
Eur J Hum Genet. 2016 Aug;24(8):1211-5
pubmed: 26813947
Bioinformatics. 2016 Apr 15;32(8):1220-2
pubmed: 26647377
Hum Mutat. 2020 Mar;41(3):641-654
pubmed: 31769566
Genome Res. 2011 Jun;21(6):974-84
pubmed: 21324876
J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e16-e17
pubmed: 30334933
Genome Biol. 2019 Jun 3;20(1):117
pubmed: 31159850
Clin Genet. 2021 Mar;99(3):430-436
pubmed: 33294969
Endoscopy. 2014 Jun;46(6):533-7
pubmed: 24777424
Mol Cell Biol. 1991 Jun;11(6):3296-306
pubmed: 1710027
J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):384-387
pubmed: 28422808
Mol Genet Genomic Med. 2020 Nov;8(11):e1516
pubmed: 33031641
Genet Med. 2017 Oct;19(10):1144-1150
pubmed: 28383543
J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):624-626
pubmed: 27007401
Eur J Hum Genet. 2015 Dec;23(12):1679-83
pubmed: 25782675
Hum Genet. 2014 Jun;133(6):737-42
pubmed: 24337657
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Pediatr Surg Int. 2011 Oct;27(10):1041-6
pubmed: 21792650
Fetal Diagn Ther. 2015;38(4):296-306
pubmed: 25998219
Gastroenterol Clin North Am. 2011 Dec;40(4):787-807
pubmed: 22100118
Neurogastroenterol Motil. 2018 Sep;30(9):e13371
pubmed: 29781137
Expert Rev Mol Diagn. 2013 Jul;13(6):529-40
pubmed: 23895124
Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8
pubmed: 25827230