Association of rare variants in
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
13 Mar 2023
13 Mar 2023
Historique:
medline:
31
3
2023
entrez:
30
3
2023
pubmed:
31
3
2023
Statut:
epublish
Résumé
Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and To evaluate the association between rare To study possible association of rare variants (minor allele frequency<0.01) in We found evidence for an association between functional Rare functional and loss-of-function
Sections du résumé
Background
UNASSIGNED
Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and
Objectives
UNASSIGNED
To evaluate the association between rare
Methods
UNASSIGNED
To study possible association of rare variants (minor allele frequency<0.01) in
Results
UNASSIGNED
We found evidence for an association between functional
Conclusions
UNASSIGNED
Rare functional and loss-of-function
Identifiants
pubmed: 36993451
doi: 10.1101/2023.03.08.23286773
pmc: PMC10055435
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NINDS NIH HHS
ID : K02 NS080915
Pays : United States
Commentaires et corrections
Type : UpdateIn
Références
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Front Med (Lausanne). 2020 Oct 20;7:576221
pubmed: 33195324
Am J Hum Genet. 2013 Jul 11;93(1):42-53
pubmed: 23768515
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Neurology. 1992 Jun;42(6):1142-6
pubmed: 1603339
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Mov Disord. 2015 Oct;30(12):1591-601
pubmed: 26474316
Neurol Genet. 2020 Jan 09;6(1):385
pubmed: 32042909
NPJ Parkinsons Dis. 2016;2:
pubmed: 27110593
Parkinsonism Relat Disord. 2020 Apr;73:60-71
pubmed: 31761667
Acta Neurol Scand. 1994 Mar;89(3):171-4
pubmed: 7913281
Neurobiol Dis. 2018 Apr;112:85-90
pubmed: 29369793
Am J Hum Genet. 2012 Aug 10;91(2):224-37
pubmed: 22863193
BMC Bioinformatics. 2014 May 02;15:125
pubmed: 24884706
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96
pubmed: 27491217
N Engl J Med. 2009 Oct 22;361(17):1651-61
pubmed: 19846850
Brain. 2022 Nov 11;:
pubmed: 36370000
Neurobiol Aging. 2022 Jan;109:269-272
pubmed: 34531044
Lancet Neurol. 2019 Dec;18(12):1091-1102
pubmed: 31701892
Neurology. 2013 Apr 23;80(17):1606-10
pubmed: 23535491
Mol Med. 2011 Sep-Oct;17(9-10):1107-18
pubmed: 21717034
Sci Rep. 2020 Mar 27;10(1):5567
pubmed: 32221382
Brain. 2019 Sep 1;142(9):2845-2859
pubmed: 31312839
Brain. 2019 Dec 1;142(12):e70
pubmed: 31670782
Mov Disord. 2021 Aug;36(8):1795-1804
pubmed: 33960523
J Parkinsons Dis. 2020;10(1):301-313
pubmed: 31868683
Acta Neuropathol. 2007 Nov;114(5):481-9
pubmed: 17653558
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
Brain. 2017 Dec 1;140(12):3191-3203
pubmed: 29140481
Brain. 2020 Jun 1;143(6):e47
pubmed: 32437521
Acta Neuropathol. 2017 Sep;134(3):351-382
pubmed: 28638987
Nat Genet. 2017 Oct;49(10):1511-1516
pubmed: 28892059