Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. - Wikidata - awgldk - TriplyDB

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

http://www.wikidata.org/entity/Q47804473

about

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 Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia HNF-1beta regulates transcription of the PKD modifier gene Kif12 Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?MicroRNAs in the pathogenesis of cystic kidney disease Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans Structural Basis of Disease-Causing Mutations in Hepatocyte Nuclear Factor 1β † , ‡Lack of TCF2/vHNF1 in mice leads to pancreas agenesis Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.Tissue-specific regulation of the mouse Pkhd1 (ARPKD) gene promoter Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.Renal malformations associated with mutations of developmental genes: messages from the clinic.Pancreatic function in carboxyl-ester lipase knockout mice Integrative bioinformatics links HNF1B with clear cell carcinoma and tumor-associated thrombosis.Crystallization of hepatocyte nuclear factor 1beta in complex with DNA.Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)Large-scale fine mapping of the HNF1B locus and prostate cancer risk Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)Expression of HNF-1β in cervical carcinomas: an immunohistochemical study of 155 cases HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations Clinical features and treatment of maturity onset diabetes of the young (MODY).Diagnosis and management of maturity-onset diabetes of the young.A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.Expression profiles of human epididymis epithelial cells reveal the functional diversity of caput, corpus and cauda regions Epigenetic inactivation of TCF2 in ovarian cancer and various cancer cell lines.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 Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Specification of hepatopancreas progenitors in zebrafish by hnf1ba and wnt2bb.Genetics of type 2 diabetes mellitus and obesity--a review.Mullerian Duct Cyst Causing Bladder Outlet Obstruction in a Patient with HNF-1β Gene Deletion Molecular diagnosis of maturity onset diabetes of the young in India.

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P2860

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

http://www.wikidata.org/entity/Q47804473

description

2004 nî lūn-bûn

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2004年の論文

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年学术文章

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2004年學術文章

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2004年學術文章

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2004年學術文章

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name

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

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Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

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type

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Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

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Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

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prefLabel

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

@en

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

@nl

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Annals of Internal Medicine

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Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

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Dominique Chauveau

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Gilberto Velho

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Jean-François Gautier

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Jean-Marie Wilhelm

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José Timsit

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Laure-Hélène Noël

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Sandrine Beaufils

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Séverine Clauin

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510-517

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7

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Christian Boitard

Christine Bellanné-Chantelot

Danièle Dubois-Laforgue

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2004-04-01T00:00:00Z

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