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Article

Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights.

Journal of endocrinological investigation - 1 Jun 2026

Aydogan Cagatay, Kanca-Demirci Deniz, Gul Nurdan, Poyrazoglu Sukran, Tokat Bengu, Mutlu Ummu, Ozturk Oguz, Yilmaz-Aydogan Hulya, Satman Ilhan

Abstract excerpt

PURPOSE: The objective of this study was to investigate the protein-coding regions of the NR1D2 gene in patients clinically diagnosed with maturity-onset diabetes of the young (MODY), including those without pathogenic variants in known MODY genes (MODY-X), and to characterize the potential functional relevance of detected variants. METHODS: The variants present in the exons and adjacent intronic regions of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41649749
DOI: 10.1007/s40618-026-02821-7
PMCID: PMC13219095

Genes

NR1D2

Variants

rs148928938

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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