Diverse dystonin gene mutations cause distinct patterns of
Dystonia musculorum mice
Dystonin/Bpag1
Hemidesmosome
Neuropathy
Journal
Disease models & mechanisms
ISSN: 1754-8411
Titre abrégé: Dis Model Mech
Pays: England
ID NLM: 101483332
Informations de publication
Date de publication:
21 05 2020
21 05 2020
Historique:
received:
23
07
2019
accepted:
11
03
2020
entrez:
3
6
2020
pubmed:
3
6
2020
medline:
11
6
2021
Statut:
epublish
Résumé
Loss-of-function mutations in dystonin (
Identifiants
pubmed: 32482619
pii: 13/5/dmm041608
doi: 10.1242/dmm.041608
pmc: PMC7325434
pii:
doi:
Substances chimiques
Dystonin
0
Protein Isoforms
0
RNA, Messenger
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020. Published by The Company of Biologists Ltd.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing or financial interests.
Références
Cell. 1995 Apr 21;81(2):233-43
pubmed: 7736575
J Biomed Sci. 2011 Jan 28;18:9
pubmed: 21272373
Hum Mutat. 2019 Jan;40(1):106-114
pubmed: 30371979
Brain Res. 2007 Apr 6;1140:179-87
pubmed: 16725123
Mol Biol Cell. 2012 Feb;23(4):553-66
pubmed: 22190742
Genes Dev. 1996 Jul 15;10(14):1724-35
pubmed: 8698233
J Dermatol Sci. 2003 May;31(3):169-77
pubmed: 12727020
Ann Dermatol. 2015 Dec;27(6):658-66
pubmed: 26719633
Neuroscience. 1980;5(3):543-9
pubmed: 7374955
PLoS One. 2014 Sep 22;9(9):e107535
pubmed: 25244344
Br J Dermatol. 2015 Feb;172(2):527-31
pubmed: 25059916
Genetics. 2016 Sep;204(1):191-203
pubmed: 27401753
J Neurochem. 2018 Nov;147(4):557-572
pubmed: 30225910
J Neurochem. 2020 Jul;154(1):25-40
pubmed: 31587290
Stain Technol. 1960 Nov;35:313-23
pubmed: 13741297
Science. 1991 Nov 22;254(5035):1202-5
pubmed: 1720261
Ann Neurol. 2012 Apr;71(4):569-72
pubmed: 22522446
J Cell Biol. 2001 Aug 20;154(4):691-7
pubmed: 11514586
J Cell Sci. 2007 Jul 15;120(Pt 14):2435-43
pubmed: 17606998
J Invest Dermatol. 2017 Oct;137(10):2227-2230
pubmed: 28558912
Cell. 1991 Sep 20;66(6):1301-11
pubmed: 1717157
J Clin Invest. 1996 Nov 15;98(10):2196-200
pubmed: 8941634
Exp Dermatol. 2016 Jan;25(1):10-6
pubmed: 26479498
Nature. 1988 Sep 29;335(6189):435-7
pubmed: 3138544
Neurochem Int. 2018 Oct;119:159-170
pubmed: 29061384
Nat Genet. 1995 Jul;10(3):301-6
pubmed: 7670468
Mamm Genome. 2005 Dec;16(12):909-17
pubmed: 16341670
J Invest Dermatol. 2014 Mar;134(3):773-782
pubmed: 24025550
Development. 2006 Apr;133(7):1379-87
pubmed: 16510500
Mech Dev. 2000 Dec;99(1-2):143-8
pubmed: 11091082
Am J Med Genet A. 2017 Oct;173(10):2743-2746
pubmed: 28767192
Exp Cell Res. 2006 Sep 10;312(15):2712-25
pubmed: 16797530
Brain. 1964 Jun;87:367-78
pubmed: 14188280
J Invest Dermatol. 2010 Jun;130(6):1551-7
pubmed: 20164846
Hum Mol Genet. 2014 May 15;23(10):2694-710
pubmed: 24381311
Neurochem Res. 2018 Jan;43(1):101-109
pubmed: 28664402
Cell Tissue Res. 2015 May;360(2):363-78
pubmed: 25487405
Acta Derm Venereol. 2017 May 8;97(5):657-659
pubmed: 28119998
Muscle Nerve. 2004 Sep;30(3):310-6
pubmed: 15318342
Eur J Neurosci. 2014 Nov;40(10):3458-71
pubmed: 25195653
Hum Mol Genet. 2018 Oct 15;27(20):3598-3611
pubmed: 29982604
Neurobiol Dis. 2016 Dec;96:271-283
pubmed: 27693510
Semin Cell Dev Biol. 2017 Sep;69:26-33
pubmed: 28736206
Mol Cell Neurosci. 1998 Apr;10(5-6):243-57
pubmed: 9604204
Genes Dev. 2017 Sep 15;31(18):1910-1925
pubmed: 29021239
Neurology. 2017 May 30;88(22):2132-2140
pubmed: 28468842
Matrix Biol. 1999 Feb;18(1):5-17
pubmed: 10367727
Genet Res. 1982 Dec;40(3):249-54
pubmed: 7160617
Methods Enzymol. 2014;534:245-60
pubmed: 24359958
J Clin Invest. 1996 May 15;97(10):2289-98
pubmed: 8636409
J Invest Dermatol. 2012 Mar;132(3 Pt 1):742-4
pubmed: 22113475
Nature. 1992 Mar 19;356(6366):244-6
pubmed: 1372711