Condition: Maturity-Onset Diabetes of the Young, Type 1


rs1375557127 in HNF4A gene and Maturity-Onset Diabetes of the Young, Type 1 PMID 23485969 2013 Multidomain integration in the structure of the HNF-4α nuclear receptor complex.

PMID 10768098 2000 Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients.

PMID 26059258 2016 Characteristics of maturity onset diabetes of the young in a large diabetes center.

PMID 24947580 2014 Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.

PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 16917892 2006 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

PMID 9313765 1997 Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

PMID 17407387 2007 Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

PMID 10389854 1999 Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

PMID 9243109 1997 A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.

PMID 15830177 2005 Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.

PMID 193395 1977 Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage.

rs1385251852 in MIR3646;HNF4A gene and Maturity-Onset Diabetes of the Young, Type 1 PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 10592235 2000 The Protein Data Bank.

PMID 23485969 2013 Multidomain integration in the structure of the HNF-4α nuclear receptor complex.

PMID 16917892 2006 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

PMID 28458902 2017 Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.

PMID 27245055 2016 Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.

PMID 20164212 2010 Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

PMID 24285859 2014 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

PMID 28693455 2017 Fainting Fanconi syndrome clarified by proxy: a case report.

PMID 25819479 2015 Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.