Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
NURF complex
SMARCA1
brain overgrowth
epigenetics
exome sequencing
Journal
Research square
Titre abrégé: Res Sq
Pays: United States
ID NLM: 101768035
Informations de publication
Date de publication:
29 Sep 2023
29 Sep 2023
Historique:
medline:
16
10
2023
pubmed:
16
10
2023
entrez:
16
10
2023
Statut:
epublish
Résumé
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H (
Identifiants
pubmed: 37841849
doi: 10.21203/rs.3.rs-3317938/v1
pmc: PMC10571636
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NHGRI NIH HHS
ID : R01 HG009141
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119689
Pays : United States
Déclaration de conflit d'intérêts
KGM and MJGS are employees of GeneDX, LLC. All remaining authors declare no competing financial interests.
Références
Neurochem Int. 2021 Jul;147:105055
pubmed: 33964373
Bioinformatics. 2014 May 15;30(10):1363-9
pubmed: 24478339
PLoS Genet. 2016 Apr 05;12(4):e1005969
pubmed: 27046080
Mol Psychiatry. 2016 Dec;21(12):1690-1695
pubmed: 27001614
Nat Genet. 2012 Feb 26;44(4):445-9, S1
pubmed: 22366787
Cell Cycle. 2014;13(19):3016-25
pubmed: 25486562
J Med Genet. 2016 Mar;53(3):190-9
pubmed: 26740508
Am J Med Genet A. 2021 May;185(5):1366-1378
pubmed: 33522091
HGG Adv. 2021 Dec 03;3(1):100075
pubmed: 35047860
EMBO Rep. 2017 Oct;18(10):1697-1706
pubmed: 28801535
EMBO J. 2002 May 1;21(9):2231-41
pubmed: 11980720
EMBO J. 2006 Dec 13;25(24):5735-41
pubmed: 17139253
EMBO J. 2011 May 4;30(9):1766-77
pubmed: 21448136
Nucleic Acids Res. 2011 Oct;39(19):8445-56
pubmed: 21745822
Science. 2015 Jan 23;347(6220):1260419
pubmed: 25613900
Front Mol Neurosci. 2018 Aug 03;11:252
pubmed: 30123105
Curr Protoc Cell Biol. 2009 Sep;Chapter 19:Unit 19.14 19.14.1-36
pubmed: 19731226
PLoS Genet. 2015 Oct 06;11(10):e1005555
pubmed: 26440048
EMBO J. 2003 Nov 17;22(22):6089-100
pubmed: 14609955
Mol Cell Neurosci. 2018 Mar;87:55-64
pubmed: 29249292
Am J Hum Genet. 2020 Mar 5;106(3):356-370
pubmed: 32109418
Hum Mol Genet. 2022 Oct 10;31(20):3405-3421
pubmed: 35604347
Cell Cycle. 2013 Sep 15;12(18):3070-82
pubmed: 23974106
Nat Rev Mol Cell Biol. 2017 Jul;18(7):407-422
pubmed: 28512350
Nat Commun. 2018 Nov 20;9(1):4885
pubmed: 30459321
Mol Cell. 2001 Sep;8(3):531-43
pubmed: 11583616
Stem Cell Reports. 2018 Mar 13;10(3):675-683
pubmed: 29456179
Nucleic Acids Res. 2015 Apr 20;43(7):e47
pubmed: 25605792
Front Mol Neurosci. 2017 Aug 03;10:243
pubmed: 28824374
Annu Rev Biochem. 2009;78:273-304
pubmed: 19355820
Nat Genet. 2012 Mar 18;44(4):376-8
pubmed: 22426308
Cell Cycle. 2005 Apr;4(4):543-6
pubmed: 15753658
Genes Dev. 2011 Feb 1;25(3):275-86
pubmed: 21289071
Hum Mutat. 2015 Oct;36(10):915-21
pubmed: 26295439
Eur J Med Genet. 2020 Jun;63(6):103894
pubmed: 32081709
Mol Cell Biol. 2015 Jan;35(1):224-37
pubmed: 25348714
J Clin Invest. 2005 Feb;115(2):258-67
pubmed: 15668733
Am J Hum Genet. 2017 Oct 5;101(4):503-515
pubmed: 28942966
Genes Dev. 2004 Jan 15;18(2):170-83
pubmed: 14752009
Sci Adv. 2021 May 12;7(20):
pubmed: 33980485
Nature. 2009 Jan 1;457(7225):57-62
pubmed: 19092802
Dev Cell. 2012 Apr 17;22(4):871-8
pubmed: 22516202
J Neurochem. 2001 May;77(4):1145-56
pubmed: 11359880
J Exp Clin Cancer Res. 2021 Nov 4;40(1):346
pubmed: 34736517
Eur J Hum Genet. 2014 Jan;22(1):64-70
pubmed: 23756441
FEBS J. 2011 Oct;278(19):3608-18
pubmed: 21810179
J Neurosci. 2002 Aug 1;22(15):6309-14
pubmed: 12151506
Nat Genet. 2002 Dec;32(4):627-32
pubmed: 12434153
Genet Med. 2021 Jun;23(6):1065-1074
pubmed: 33547396
Science. 2016 Mar 25;351(6280):1443-6
pubmed: 26940868
Mol Cell. 2015 Mar 5;57(5):850-859
pubmed: 25684208
Neuron. 2015 Nov 4;88(3):499-513
pubmed: 26539891
Front Mol Neurosci. 2021 Jul 06;14:680280
pubmed: 34295220
Hum Mol Genet. 2005 Feb 15;14(4):513-24
pubmed: 15640247
Hum Mol Genet. 2020 Sep 30;29(R1):R27-R32
pubmed: 32644126
Chromosoma. 2014 Mar;123(1-2):91-102
pubmed: 24414837
Curr Protoc Mouse Biol. 2018 Sep;8(3):e48
pubmed: 29944194
Biochem Pharmacol. 2020 Oct;180:114200
pubmed: 32805211
Hum Mutat. 2020 May;41(5):921-925
pubmed: 31999386
Front Mol Neurosci. 2019 Oct 17;12:243
pubmed: 31680852
Mol Cell. 2010 Dec 22;40(6):976-87
pubmed: 21172662
Nat Commun. 2014 Jun 20;5:4181
pubmed: 24946904
Nature. 2006 Jul 6;442(7098):86-90
pubmed: 16728976