Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.L17H
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HNF1A

NM_000545.8:p.L17H

Associated Papers

Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.

Skoczek D et al.

International Journal of Molecular Sciences, 2021

34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1

Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.

Bacon S et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

MicroRNA-224 is Readily Detectable in Urine of Individuals with Diabetes Mellitus and is a Potential Indicator of Beta-Cell Demise.

Bacon S et al.

Genes, 2015

Identification of circulating microRNAs in HNF1A-MODY carriers.

Bonner C et al.

Diabetologia, 2013

Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young.

Kyithar MP et al.

Journal of Translational Medicine, 2013

Circulating CD36 is reduced in HNF1A-MODY carriers.

Bacon S et al.

Plos One, 2013

Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward.

Bacon S et al.

Bmc Endocrine Disorders, 2012

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.

Kyithar MP et al.

Diabetes & Metabolism, 2011

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Bellanné-Chantelot C et al.

Diabetes, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."