HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. - Wikidata - wikimedia - TriplyDB

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

http://www.wikidata.org/entity/Q38299096

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Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Genetic causes of hypomagnesemia, a clinical overview Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.HNF1 regulates critical processes in the human epididymis epithelium Mullerian Duct Cyst Causing Bladder Outlet Obstruction in a Patient with HNF-1β Gene Deletion Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.HNF1B-associated clinical phenotypes: the kidney and beyond.Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.The role of hepatocyte nuclear factor 1β in disease and development.A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.The contribution of branching morphogenesis to kidney development and disease.Inherited and acquired disorders of magnesium homeostasis.Renal development in the fetus and premature infant.Genetic Syndromes Affecting Kidney Development.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics Genomic medicine for kidney disease.HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.Genetics of Magnesium Disorders.Choledochal Cyst with 17q12 Chromosomal Duplication.HNF1B Loss Exacerbates the Development of Chromophobe Renal Cell Carcinomas.MicroRNA-375 Is Induced in Cisplatin Nephrotoxicity to Repress Hepatocyte Nuclear Factor 1-β.A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).Etiologies of uterine malformations.

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HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

http://www.wikidata.org/entity/Q38299096

description

2014 nî lūn-bûn

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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

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

2014年论文

@zh

2014年论文

@zh-cn

name

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

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type

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HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

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HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

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NRNEPH.2014.232

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Nature Reviews Nephrology

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HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum

@en

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Coralie Bingham

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Rhian L Clissold

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Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

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

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

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

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

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

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

Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system

vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis

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nrneph.2014.232

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102-112

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scholarly article

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10.1038/NRNEPH.2014.232

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2

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Andrew Tym Hattersley

Alexander Hamilton

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2014-12-23T00:00:00Z

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25536396

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