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

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

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

http://www.wikidata.org/entity/Q24535574

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations Liver and kidney disease in ciliopathies Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology New opportunities: harnessing induced pluripotency for discovery in diabetes and metabolism Lower urinary tract development and disease Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney Ex vivo modeling of chemical synergy in prenatal kidney cystogenesis Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1 Maternal diet programs embryonic kidney gene expression Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Zebrafish Models of Kidney Damage and Repair Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.Glomerulocystic kidney disease Renal malformations associated with mutations of developmental genes: messages from the clinic.Metabolomics identifies novel Hnf1alpha-dependent physiological pathways in vivo Normal and abnormal development of the urogenital tract.Glomerulocystic kidney disease and its rare associations: an autopsy report of two unrelated cases HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.Genetic approaches to the molecular understanding of type 2 diabetes.Glomerulocystic disease A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update Genetic approaches to human renal agenesis/hypoplasia and dysplasia.Genetic basis of prune belly syndrome: screening for HNF1β gene.How have the past 5 years of research changed clinical practice in paediatric nephrology?Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.Defining the genetic aetiology of monogenic diabetes can improve treatment.Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expression.Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.Cilia in cell signaling and human disorders.Genetic testing in renal disease.Infantile hypertrophic pyloric stenosis--genetics and syndromes.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Comprehensive search for HNF-1beta-regulated genes in mouse hepatoma cells perturbed by transcription regulatory factor-targeted RNAi.

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

http://www.wikidata.org/entity/Q24535574

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2001 nî lūn-bûn

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American Journal of Human Genetics

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Allen LI

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Bingham C

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Bulman MP

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Hattersley AT

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Hoff WG

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Lipkin GW

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Nicholls AJ

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P2860

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro

vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.

The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos

Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneys

Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome.

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

Glomerulocystic kidney disease--nosological considerations.

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

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219-224

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10.1086/316945

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1

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Giuseppe Novelli

Adrian S. Woolf

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247282198

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11085914

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