Polymorphism in the PBX1 gene is related to cystinuria in Brazilian families.
Adult
Alleles
Brazil
/ epidemiology
Cystine
/ metabolism
Cystinuria
/ genetics
DNA Copy Number Variations
/ genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Heterozygote
Homozygote
Humans
Male
Nephrolithiasis
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Pre-B-Cell Leukemia Transcription Factor 1
/ genetics
SNP
cystine
genetics
Journal
Journal of cellular and molecular medicine
ISSN: 1582-4934
Titre abrégé: J Cell Mol Med
Pays: England
ID NLM: 101083777
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
18
07
2018
accepted:
02
10
2018
pubmed:
20
11
2018
medline:
18
6
2020
entrez:
20
11
2018
Statut:
ppublish
Résumé
The aim of our study was to determine regions of loss of heterozygosity, copy number variation analysis, and single nucleotide polymorphisms (SNPs) in Brazilian patients with cystinuria. A linkage study was performed using DNA samples from six patients with cystinuria and six healthy individuals. Genotyping was done with the Genome-Wide Human SNP 6.0 arrays (Affymetrix, Inc., Santa Clara, CA, USA). For validation, SNPs were genotyped using a TaqMan
Identifiants
pubmed: 30450686
doi: 10.1111/jcmm.13981
pmc: PMC6349145
doi:
Substances chimiques
Pre-B-Cell Leukemia Transcription Factor 1
0
PBX1 protein, human
0
Cystine
48TCX9A1VT
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1593-1597Informations de copyright
© 2018 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.
Références
J Biol Chem. 2013 Mar 15;288(11):7918-29
pubmed: 23382381
Iran J Kidney Dis. 2016 Jan;10(1):44-7
pubmed: 26837681
J Am Soc Nephrol. 2002 Oct;13(10):2547-53
pubmed: 12239244
Mol Biol Rep. 2018 Oct;45(5):1165-1173
pubmed: 30069816
Nature. 2001 Feb 15;409(6822):928-33
pubmed: 11237013
Nat Rev Nephrol. 2010 Jul;6(7):424-34
pubmed: 20517292
J Cell Sci. 2012 May 1;125(Pt 9):2300-14
pubmed: 22344260
Kidney Int. 2002 Nov;62(5):1550-9
pubmed: 12371955
Orphanet J Rare Dis. 2012 Apr 05;7:19
pubmed: 22480232
Genesis. 2003 Nov;37(3):123-30
pubmed: 14595835
J Cell Mol Med. 2019 Feb;23(2):1593-1597
pubmed: 30450686
Nature. 2003 Dec 18;426(6968):789-96
pubmed: 14685227
Urolithiasis. 2015 Oct;43(5):447-53
pubmed: 26123750
Iran J Kidney Dis. 2017 Mar;11(2):138-141
pubmed: 28270646
Hum Genomics. 2009 Jan;3(2):195-206
pubmed: 19164095
Nat Rev Genet. 2011 May;12(5):363-76
pubmed: 21358748