Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
about
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansLower urinary tract development and diseaseDevelopment of the kidney medullaMutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Exploring the genetic basis of early-onset chronic kidney disease.UG4 enhancer-driven GATA-2 and bone morphogenetic protein 4 complementation remedies the CAKUT phenotype in Gata2 hypomorphic mutant mice.Expression profiles of human epididymis epithelial cells reveal the functional diversity of caput, corpus and cauda regionsRare variants in tenascin genes in a cohort of children with primary vesicoureteric refluxGenetics of Vesicoureteral Reflux.Solid pseudopapillary tumor of the pancreas and concomitant urogenital malformations in a young woman.TNXB mutations can cause vesicoureteral reflux.A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.MicroRNAs: potential regulators of renal development genes that contribute to CAKUT.Vesicoureteric reflux and reflux nephropathy: from mouse models to childhood disease.Genetic, environmental, and epigenetic factors involved in CAKUT.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Genetics of vesicoureteral reflux.De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.Decreased expression of SOX17 is associated with tumor progression and poor prognosis in breast cancer.Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction.
P2860
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P2860
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@ast
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@en
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@nl
type
label
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@ast
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@en
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@nl
prefLabel
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@ast
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@en
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@nl
P2093
P2860
P50
P921
P356
P1433
P1476
Mutations in SOX17 are associa ...... e kidney and the urinary tract
@en
P2093
Elisa Benetti
Giorgio Gimelli
James M Wells
Kyle McCracken
Monica Dagnino
Paola Zordan
Patrizia Fiorio
Silvana Beri
Stefania Gimelli
P2860
P304
P356
10.1002/HUMU.21378
P407
P577
2010-11-09T00:00:00Z