Varaico: Literature-Extracted Genetic Variants

Gene:NEUROD1
Variant:p.R111L
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NEUROD1

NM_002500.5:p.R111L

Associated Papers

Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.

Ba T et al.

Journal of 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

Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families.

Bawatneh A et al.

Frontiers in Genetics, 2023

Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.

Heng JI et al.

Journal of Neurochemistry, 2022

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

Abreu GM et al.

Molecular Genetics & Genomic Medicine, 2019

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

Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.

Firdous P et al.

Frontiers in Endocrinology, 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

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Prasov L et al.

Human Molecular Genetics, 2012

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

Ala45Thr variation in neuroD1 gene is associated with early-onset type 2 diabetes with or without diabetic pedigree in Chinese.

Liu L et al.

Molecular and Cellular Biochemistry, 2006

Ala45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis.

Kavvoura FK et al.

Human Genetics, 2005

Lack of association of the Ala(45)Thr polymorphism and other common variants of the NeuroD gene with type 1 diabetes.

Vella A et al.

Diabetes, 2004

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

Winter WE

Reviews in Endocrine & Metabolic Disorders, 2003

NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiology and Genetics Group.

Hansen L et al.

Diabetes, 2000

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

Malecki MT et al.

Nature Genetics, 1999

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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."