Author

Gwladys Revêchon

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Open access Jul 2026

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

BACKGROUND Primary laminopathies are a heterogeneous group of rare diseases caused by nuclear lamina dysfunction due to pathogenic LMNA variants. However, despite their ubiquitous expression, LMNA variants have rarely been linked to chronic kidney disease (CKD). Here, we systematically investigate clinical implications...

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

Open access Aug 2026

Dysregulated lncRNAs are associated with the progressive arterial phenotype in Hutchinson-Gilford Progeria Syndrome.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disorder caused by de novo LMNA mutations. Patients develop severe systemic symptoms limiting life quality and ultimately causing death from cardiovascular events. Despite extensive research, treatment options remain limited. Here, we investigated th...

Lara G. Merino, Santhilal Subhash, D. Whisenant et al. · GeroScience · 0 citations

Open access Jul 2026

Single-cell analysis of the progeria arterial wall reveals progerin-induced progressive, cell type-specific dysfunction and somatic mutation accumulation

It is shown that progerin leads to somatic mutation accumulation particularly in VSMCs, highlighting the need for early, cell-type-specific therapeutic intervention in HGPS to prevent permanent vascular tissue damage.

Lara G. Merino, Gwladys Revêchon, Santhilal Subhash et al. · Genome Medicine · 1 citation