Could Dissimilar Phenotypic Effects of
ACTB gene
Actin
Baraitser-Winter syndrome
Missense mutation
Protein conformational change
Residue position
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
accepted:
05
07
2018
entrez:
9
2
2019
pubmed:
9
2
2019
medline:
9
2
2019
Statut:
ppublish
Résumé
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in
Identifiants
pubmed: 30733661
doi: 10.1159/000492267
pii: msy-0009-0259
pmc: PMC6362929
doi:
Types de publication
Journal Article
Langues
eng
Pagination
259-265Références
Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8693-8
pubmed: 10411937
J Med Genet. 2000 Jun;37(6):460-2
pubmed: 10928857
Clin Dysmorphol. 2001 Apr;10(2):87-93
pubmed: 11311002
Science. 2001 Jul 27;293(5530):708-11
pubmed: 11474115
Ann Neurol. 2002 Oct;52(4):465-76
pubmed: 12325076
J Biol Chem. 2003 Sep 5;278(36):34172-80
pubmed: 12813032
Am J Hum Genet. 2006 Jun;78(6):947-60
pubmed: 16685646
Nature. 2010 Oct 7;467(7316):724-8
pubmed: 20844487
Annu Rev Biophys. 2011;40:169-86
pubmed: 21314430
J Mol Biol. 2012 Apr 20;418(1-2):103-16
pubmed: 22366544
Nat Genet. 2012 Feb 26;44(4):440-4, S1-2
pubmed: 22366783
Pediatr Dent. 2012 Sep-Oct;34(5):144-7
pubmed: 23211900
Hum Mutat. 2013 Sep;34(9):1242-9
pubmed: 23649928
Eur J Hum Genet. 2014 Feb;22(2):179-83
pubmed: 23756437
Eur J Med Genet. 2014 Jan;57(1):32-6
pubmed: 24211661
Eur J Hum Genet. 2015 Mar;23(3):292-301
pubmed: 25052316
Clin Genet. 2015 Sep;88(3):288-92
pubmed: 25156961
FEBS J. 2014 Dec;281(23):5279-91
pubmed: 25255767
Clin Genet. 2017 Jul;92(1):3-9
pubmed: 27625340
Curr Top Microbiol Immunol. 2017;399:1-34
pubmed: 27848038
Case Rep Genet. 2017;2017:9184265
pubmed: 28487785
Am J Hum Genet. 2017 Dec 7;101(6):1021-1033
pubmed: 29220674
Am J Med Genet. 1995 Jul 3;57(3):403-9
pubmed: 7545868