A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.
multiple sclerosis
neurology
rare variants
sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
16 12 2022
16 12 2022
Historique:
received:
15
11
2022
revised:
13
12
2022
accepted:
14
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
While the role of common genetic variants in multiple sclerosis (MS) has been elucidated in large genome-wide association studies, the contribution of rare variants to the disease remains unclear. Herein, a whole-genome sequencing study in four affected and four healthy relatives of a consanguineous Italian family identified a novel missense c.1801T > C (p.S601P) variant in the
Identifiants
pubmed: 36553660
pii: genes13122392
doi: 10.3390/genes13122392
pmc: PMC9777893
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : CIHR
ID : MOP-137051
Pays : Canada
Références
Parkinsonism Relat Disord. 2013 May;19(5):563-5
pubmed: 23415606
Cell. 2018 Nov 29;175(6):1679-1687.e7
pubmed: 30343897
Genes (Basel). 2020 Aug 25;11(9):
pubmed: 32854198
Bioinformatics. 2011 Apr 1;27(7):1017-8
pubmed: 21330290
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Sci Rep. 2017 Jun 16;7(1):3715
pubmed: 28623311
Ann Neurol. 2015 Jul;78(1):115-27
pubmed: 25914168
Neurol Neuroimmunol Neuroinflamm. 2015 Jul 09;2(4):e129
pubmed: 26185776
Nat Chem Biol. 2022 Sep;18(9):925-933
pubmed: 35995862
Mult Scler. 2019 Jun;25(7):909-917
pubmed: 29873607
G3 (Bethesda). 2016 Jul 07;6(7):2073-9
pubmed: 27194806
Ann Neurol. 1995 Apr;37(4):424-35
pubmed: 7536402
PLoS Comput Biol. 2010 Dec 02;6(12):e1001025
pubmed: 21152010
Nat Commun. 2014 Mar 12;5:3459
pubmed: 24619206
Growth Factors. 2012 Apr;30(2):88-106
pubmed: 22339650
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Nat Genet. 2013 Nov;45(11):1353-60
pubmed: 24076602
PLoS One. 2013 Dec 04;8(12):e80941
pubmed: 24324648
Ann Neurol. 2011 Dec;70(6):881-6
pubmed: 22190362
Hum Mutat. 2017 Jun;38(6):736-744
pubmed: 28326637
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Front Immunol. 2018 Jan 12;8:1949
pubmed: 29375572
Am J Hum Genet. 1997 Nov;61(5):1179-88
pubmed: 9345087
J Neurochem. 2012 Jan;120(2):269-78
pubmed: 22121954
Ann Neurol. 2011 Feb;69(2):292-302
pubmed: 21387374
Nucleic Acids Res. 2015 Apr 20;43(7):e47
pubmed: 25605792
JAMA Psychiatry. 2017 Mar 1;74(3):293-299
pubmed: 28097321
J Neuroimmunol. 1997 Sep;78(1-2):172-9
pubmed: 9307242
Glia. 2016 Apr;64(4):553-69
pubmed: 26649511
Nucleic Acids Res. 2003 Jul 1;31(13):3497-500
pubmed: 12824352
Oncotarget. 2017 Dec 15;8(70):115370-115383
pubmed: 29383166
Hum Genet. 2018 Sep;137(9):735-752
pubmed: 30167849
Int J Mol Sci. 2022 Sep 28;23(19):
pubmed: 36232761
J Neuroimmunol. 2022 Jan 15;362:577760
pubmed: 34922125
Bioinformatics. 2009 Jan 15;25(2):276-8
pubmed: 19038987
Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):757-764
pubmed: 28786528
Front Genet. 2012 Mar 15;3:35
pubmed: 22435069
Comput Biol Chem. 2006 Apr;30(2):134-47
pubmed: 16546448
Autoimmunity. 2007 Mar;40(2):148-60
pubmed: 17453713
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
PLoS Genet. 2011 Mar;7(3):e1001322
pubmed: 21408211
Nat Genet. 2002 Jan;30(1):97-101
pubmed: 11731797
Curr Issues Mol Biol. 2021 Oct 27;43(3):1778-1793
pubmed: 34889895
Mult Scler. 2014 Jun;20(7):802-11
pubmed: 24277324
Sci Rep. 2018 Jun 22;8(1):9511
pubmed: 29934528
Neurology. 2012 Jul 31;79(5):406-11
pubmed: 22744673
PLoS Genet. 2006 Mar;2(3):e42
pubmed: 16596167
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Neuron. 2016 Jun 1;90(5):948-54
pubmed: 27253448
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
Mol Cell Neurosci. 2011 Oct;48(2):151-60
pubmed: 21803157
J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):553-61
pubmed: 9219738
J Neurosci Res. 1999 Sep 15;57(6):941-52
pubmed: 10467266
Cell. 2019 Apr 4;177(2):478-491.e20
pubmed: 30929901
Genomics. 2021 Jul;113(4):2645-2655
pubmed: 34116171
Am J Med Genet. 1988 Mar;29(3):533-41
pubmed: 3376997
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
CNS Neurosci Ther. 2020 Nov;26(11):1178-1184
pubmed: 32951330
Science. 2019 Sep 27;365(6460):
pubmed: 31604244
Sci Rep. 2022 Oct 10;12(1):16984
pubmed: 36216875
Nat Genet. 2000 Dec;26(4):495-9
pubmed: 11101853
Genes (Basel). 2021 Oct 13;12(10):
pubmed: 34681001
Neuron. 2016 Oct 19;92(2):555
pubmed: 27764675
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Hum Hered. 2010;70(1):42-54
pubmed: 20413981
Nucleic Acids Res. 2011 Jan;39(Database issue):D871-5
pubmed: 21037257
EMBO J. 2021 Mar 15;40(6):e106524
pubmed: 33604931
Nucleic Acids Res. 2009 Jul;37(Web Server issue):W202-8
pubmed: 19458158
Can J Neurol Sci. 1998 Aug;25(3):216-21
pubmed: 9706723