Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. - Wikidata - thesis-toulmin - TriplyDB

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

http://www.wikidata.org/entity/Q33692509

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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development Development of the Mammalian Kidney Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Exploring the genetic basis of early-onset chronic kidney disease.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Genetic etiology of renal agenesis: fine mapping of Renag1 and identification of Kit as the candidate functional gene Idiopathic pediatric chronic kidney disease: can genomic technology crack the case?Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).New congenital anomalies of the kidney and urinary tract and outcomes in Robo2 mutant mice with the inserted piggyBac transposon.Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Techniques and Approaches to Genetic Analyses in Nephrological Disorders.Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology.Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Transcriptome-wide based identification of miRs in congenital anomalies of the kidney and urinary tract (CAKUT) in children: the significant upregulation of tissue miR-144 expression.HNF1B-associated clinical phenotypes: the kidney and beyond.Genetic, environmental, and epigenetic factors involved in CAKUT.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.Renal development in the fetus and premature infant.Genetic Syndromes Affecting Kidney Development.Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Genomics in the renal clinic - translating nephrogenetics for clinical practice Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.SLIT2/ROBO2 signaling pathway inhibits nonmuscle myosin IIA activity and destabilizes kidney podocyte adhesion.A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Genomic medicine for kidney disease.Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.Identification of direct negative crosstalk between the SLIT2 and Bone Morphogenetic Protein-Gremlin signaling pathways.

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

http://www.wikidata.org/entity/Q33692509

description

2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Mutations in 12 known dominant ...... the kidney and urinary tract.

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Mutations in 12 known dominant ...... the kidney and urinary tract.

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type

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Mutations in 12 known dominant ...... the kidney and urinary tract.

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Mutations in 12 known dominant ...... the kidney and urinary tract.

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Mutations in 12 known dominant ...... the kidney and urinary tract.

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Alina C Hilger

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Daw-Yang Hwang

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Elijah O Kehinde

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Friedhelm Hildebrandt

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Gabriel C Dworschak

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Heiko M Reutter

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Pawaree Saisawat

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Stefan Kohl

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Velibor Tasic

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P2860

GATA3 haplo-insufficiency causes human HDR syndrome

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

Mutations in DSTYK and dominant urinary tract malformations

SIX2 and BMP4 mutations associate with anomalous kidney development

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy

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10.1038/KI.2013.508

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