The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes-Reference-Cited by-同舟云学术

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The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes

Published:2017-11 Issue: Volume:133 Page:142-149
ISSN:0168-8227
Container-title:Diabetes Research and Clinical Practice
language:en
Short-container-title:Diabetes Research and Clinical Practice

Author:

Sagen J.V.,Bjørkhaug L.,Haukanes B.I.,Grevle L.,Molnes J.,Nedrebø B.G.,Søvik O.,Njølstad P.R.,Johansson S.,Molven A.

Publisher

Elsevier BV

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference27 articles.

1. Role of molecular genetics in transforming diagnosis of diabetes mellitus;Molven;Expert Rev Molecular Diagnost,2011

2. Maturity-onset diabetes of the young: what do clinicians need to know?;Kim;Diabetes Metabolism J,2015

3. When is it MODY? challenges in the Interpretation of sequence variants in MODY Genes;Althari;Rev Diabet Stud: RDS,2015

4. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q;Velho;Diabetes Care,1996

5. Chronic diabetic complications in patients with MODY3 diabetes;Isomaa;Diabetologia,1998

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1. Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α;Diabetes;2023-07-13

2. An intron mutation of HNF1A causes abnormal splicing and impairs its activity as a transcription factor;Molecular and Cellular Endocrinology;2022-04

3. HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus;Frontiers in Endocrinology;2022-03-01

4. Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation;The American Journal of Human Genetics;2020-10

5. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes;Diabetes Care;2020-01-30

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