Insulin receptor variants: Extending the traditional Mendelian spectrum

20253 citationsJournal Articlehybrid Open Access

Authors

Delphine Collin‐Chavagnac · Université Claude Bernard Lyon 1

Cécile Saint‐Martin · Sorbonne Université

Lotfi Bedidi · Sorbonne Université

Louis Lebreton

Vahid Aslanzadeh · Edinburgh Cancer Research

Corinne Vigouroux · Inserm

Christine Bellanné-Chantelot · Sorbonne Université

Abstract

The spectrum of INSR-related disorders extends beyond traditional entities. Heterozygous INSR LoF variants may increase IR susceptibility. International collaboration and functional assays are needed to drive precision medicine forward.

Topics & Keywords

Diabetes Management and Research Diabetes Treatment and Management Metabolism, Diabetes, and Cancer

UN Sustainable Development Goals

Zero hunger

Publication Details

Published in: Genetics in Medicine

Volume 27, Issue 6, pp. 101404-101404

DOI: 10.1016/j.gim.2025.101404

Field-Weighted Citation Impact: 4.08