Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
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Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasiaOvarian clear cell carcinoma meets metabolism; HNF-1β confers survival benefits through the Warburg effect and ROS reductionUncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsStructural Basis of Disease-Causing Mutations in Hepatocyte Nuclear Factor 1β † , ‡Hepatocyte nuclear factor 1 and hypertensive nephropathy.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)Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature reviewHNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Selecting causal genes from genome-wide association studies via functionally coherent subnetworks.Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical SpectrumGenetic basis of prune belly syndrome: screening for HNF1β gene.Impairment of Wnt11 function leads to kidney tubular abnormalities and secondary glomerular cystogenesisTranscription Factor Hepatocyte Nuclear Factor-1β (HNF-1β) Regulates MicroRNA-200 Expression through a Long Noncoding RNAMutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.Cystic kidney diseases: many ways to form a cyst.Copy-number disorders are a common cause of congenital kidney malformationsHepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiencyMonogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center.Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?RNA processing and mRNA surveillance in monogenic diabetes.Variation in HNF1B and Obesity May Influence Prostate Cancer Risk in African American Men: A Pilot Study.Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.HNF1B variants associate with promoter methylation and regulate gene networks activated in prostate and ovarian cancer.Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Infantile hypertrophic pyloric stenosis--genetics and syndromes.Pleiotropy of microRNA-192 in the kidney.Uromodulin: old friend with new roles in health and disease.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.The role of hepatocyte nuclear factor 1β in disease and development.Efficacy of extracorporeal albumin dialysis for acute kidney injury due to cholestatic jaundice nephrotoxicity.Hepatocyte nuclear factor-1β (HNF-1β) promotes glucose uptake and glycolytic activity in ovarian clear cell carcinoma.Renal development in the fetus and premature infant.Chemoprevention in African American Men With Prostate Cancer.
P2860
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P2860
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh
2004年學術文章
@zh-hant
name
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@en
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@nl
type
label
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@en
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@nl
prefLabel
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@en
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@nl
P356
P1476
Renal cysts and diabetes syndr ...... patocyte nuclear factor-1beta.
@en
P2093
Coralie Bingham
P304
P356
10.1093/NDT/GFH348
P407
P577
2004-11-01T00:00:00Z