Associated Papers
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 2021
Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes.
Magaña-Cerino JM et al.
Molecular Genetics & Genomic Medicine, 2017
Alterations in bile acid synthesis in carriers of hepatocyte nuclear factor 1α mutations.
Ekholm E et al.
Journal of Internal Medicine, 2013
Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2).
Spégel P et al.
Diabetes, 2013
Characterization of beta cell and incretin function in patients with MODY1 (HNF4A MODY) and MODY3 (HNF1A MODY) in a Swedish patient collection.
Ekholm E et al.
Acta Diabetologica, 2012
Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)?
Karlsson E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2008
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Common variants in HNF-1 alpha and risk of type 2 diabetes.
Holmkvist J et al.
Diabetologia, 2006
HNF-1alpha G574S is a functional variant with decreased transactivation activity.
Navalón-García K et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2006
Cosegregation of MIDD and MODY in a pedigree: functional and clinical consequences.
Cervin C et al.
Diabetes, 2004
Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.
Cervin C et al.
Diabetologia, 2002
Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
Lindgren CM et al.
Diabetes, 2002
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000
High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes.
Lehto M et al.
Diabetologia, 1999
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