Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.E110K
Back to variants list

NEUROD1

NM_002500.5:p.E110K

Associated Papers

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.

Sriram A et al.

Diabetes, 2025

A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.

Wang J et al.

Frontiers in Endocrinology, 2025

A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6.

Li Y et al.

Journal of Diabetes, 2024

Actionable Genotypes and Their Association with Life Span in Iceland.

Jensson BO et al.

The New England Journal of Medicine, 2023

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

Sousa M et al.

International Journal of Molecular Sciences, 2022

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.

Aarthy R et al.

Journal of Diabetes and Its Complications, 2021

The first case of NEUROD1-MODY reported in Latin America.

Abreu GM et al.

Molecular Genetics & Genomic Medicine, 2019

Sequence variants associating with urinary biomarkers.

Benonisdottir S et al.

Human Molecular Genetics, 2019

30476138 (PubMed )
Supplement: ddy409_supp.zip › Supplementary_tables_S2_S4toS11.xlsx › S4

Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).

Horikawa Y et al.

Current Diabetes Reports, 2019

NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features.

Horikawa Y et al.

Pediatric Diabetes, 2018

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.

Szopa M et al.

European Journal of Medical Genetics, 2016

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Gonsorcíková L et al.

Pediatric Diabetes, 2008

A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family.

Liu L et al.

Molecular and Cellular Biochemistry, 2007

Newly defined genetic diabetes syndromes: maturity onset diabetes of the young.

Winter WE

Reviews in Endocrine & Metabolic Disorders, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."