Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentThe genetic landscape and clinical implications of vertebral anomalies in VACTERL associationRole of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Analysis of renal anomalies in VACTERL association.Exploring the genetic basis of early-onset chronic kidney disease.PCSK5 mutation in a patient with the VACTERL association.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).Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.Expression of tumor necrosis factor receptor-associated protein 1 and its clinical significance in kidney cancer.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.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.Congenital anomalies of the kidney and urinary tract genetics in mice and men.Genetic, environmental, and epigenetic factors involved in CAKUT.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Genetic Syndromes Affecting Kidney Development.Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.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.Genetic basis of human congenital anomalies of the kidney and urinary tract.Hspa9 is required for pronephros specification and formation in Xenopus laevis.Towards precision nephrology: the opportunities and challenges of genomic medicine.Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Copy-number variation associated with congenital anomalies of the kidney and urinary tract.Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.The HSP90 Family: Structure, Regulation, Function, and Implications in Health and Disease
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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 23 October 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Whole-exome resequencing revea ...... CAKUT and VACTERL association.
@en
Whole-exome resequencing revea ...... CAKUT and VACTERL association.
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Whole-exome resequencing revea ...... CAKUT and VACTERL association.
@en
Whole-exome resequencing revea ...... CAKUT and VACTERL association.
@nl
prefLabel
Whole-exome resequencing revea ...... CAKUT and VACTERL association.
@en
Whole-exome resequencing revea ...... CAKUT and VACTERL association.
@nl
P2093
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Whole-exome resequencing revea ...... CAKUT and VACTERL association.
@en
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Alina C Hilger
Annelies de Klein
Benjamin D Solomon
Bernhard G Herrmann
Carlo L M Marcelis
Charlotte H W Wijers
Daw-Yang Hwang
Dominik Schmidt
Eberhard Schmiedeke
Enrika Bartels
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P2888
P304
P356
10.1038/KI.2013.417
P407
P577
2013-10-23T00:00:00Z