Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex

Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex

Item
http://www.wikidata.org/entity/Q34531220
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.Modern management of the exstrophy-epispadias complexCytokeratin 15 marks basal epithelia in developing ureters and is upregulated in a subset of urothelial cell carcinomas.Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.Genetics of human congenital urinary bladder disease.Malformation syndromes associated with disorders of sex development.Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy.Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.Is 1p36 deletion associated with anterior body wall defects?Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region
P2860

Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex

Item
http://www.wikidata.org/entity/Q34531220
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@ast
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@en
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@nl
type
label
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@ast
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@en
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@nl
prefLabel
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@ast
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@en
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P921
P932
P356
P1433
P1476
Insertion/deletion polymorphis ...... r exstrophy epispadias complex
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PGEN.1003070
P433
P478
P577
P5875
P698
P921
P932