Mutations in DSTYK and dominant urinary tract malformations - Wikidata - thesis-toulmin - TriplyDB

Mutations in DSTYK and dominant urinary tract malformations

Mutations in DSTYK and dominant urinary tract malformations

http://www.wikidata.org/entity/Q24309178

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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.Phenotypic expansion of DGKE-associated diseases Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.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.DSTYK kinase domain ablation impaired the mice capabilities of learning and memory in water maze test.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 Interpreting human genetic variation with in vivo zebrafish assays.Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.Fibroblast growth factor receptor signaling in kidney and lower urinary tract development.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.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.Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.Genetics in kidney disease in 2013: Susceptibility genes for renal and urological disorders.Clinical implications of the solitary functioning kidney.Vesicoureteric reflux and reflux nephropathy: from mouse models to childhood disease.Next-generation sequencing for research and diagnostics in kidney disease.Congenital anomalies of the kidney and urinary tract genetics in mice and men.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.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.A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.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.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.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.Copy-number variation associated with congenital anomalies of the kidney and urinary tract.Quantitative trait loci with sex-specific effects for internal organs weights and hematocrit value in a broiler-layer cross.Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.Zebrafish Models of Rare Hereditary Pediatric Diseases.A predictive model of chronic kidney disease in patients with congenital anomalies of the kidney and urinary tract

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Mutations in DSTYK and dominant urinary tract malformations

http://www.wikidata.org/entity/Q24309178

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2013 nî lūn-bûn

@nan

2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի օգոստոսին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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Mutations in DSTYK and dominant urinary tract malformations

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The New England Journal of Medicine

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Mutations in DSTYK and dominant urinary tract malformations

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A G Gharavi

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A Latos-Bielenska

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A Materna-Kiryluk

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B Bianco

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B J Perry

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C Izzi

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C Murtas

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D Kosuljandic Vukic

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P2860

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

RIP5 is a RIP-homologous inducer of cell death

Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme

Spatial and temporal patterns of ERK signaling during mouse embryogenesis

Epidemiology of chronic renal failure in children: data from the ItalKid project.

Cre/lox-regulated transgenic zebrafish model with conditional myc-induced T cell acute lymphoblastic leukemia.

Role of fibroblast growth factor receptors 1 and 2 in the ureteric bud.

Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations.

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

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342381

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10.1056/NEJMOA1214479

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7

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369

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Francesca Lugani

Gianluca Caridi

Maddalena Gigante

Loreto Gesualdo

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2013-08-15T00:00:00Z

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23862974

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positive regulation of ERK1 and ERK2 cascade

Dual serine/threonine and tyrosine protein kinase

Dual serine/threonine and tyrosine protein kinase

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3846391

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