Author

M. Vantyghem

3 papers indexed here

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Open access Sep 2026

Comprehensive assessment of the genotype-phenotype spectrum and treatment for monoallelic insulin receptoropathy in a cohort of 505 people

Abstract Background Insulin signalling is mediated by the INSR -encoded receptor tyrosine kinase. Biallelic INSR variants cause the most severe insulin resistance (IR), whereas heterozygous mutations cause less rare but still severe IR. Dominantly inherited IR has been attributed to dominant negative action of intracel...

Rebecca Brown, Jing-Xiang Xu, J. Luan et al. · Research Square · 0 citations

Open access Aug 2026

P200 - ECE_1716 - Longitudinal clinical and metabolic profile of male patients with LMNA-related lipodystrophy syndromes

The phenotypic diversity of laminopathies in men is confirmed and the need for repeated cardiometabolic evaluation and diabetes screening regardless of the pathogenic variant is highlighted.

Dupuis Hippolyte, Quitterie Blois, M. Vantyghem · European Journal of Endocrin... · 0 citations

Open access Jul 2026

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific

While patients with Lamin A/C Arg482 missense changes are at very low risk for progressive CKD, patients harboring Arg349Trp show nephrotic range proteinuria and kidney failure in midlife, and patients with the Arg349Trp substitution require early renoprotective intervention to potentially halt progression and prevent...

Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed et al. · JCI Insight · 0 citations