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Article

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.

Human molecular genetics - 5 Jun 2024

de Wagenaar Nathalie P, van den Bersselaar Lisa M, Odijk Hanny J H M, Stefens Sanne J M, Reinhardt Dieter P, Roos-Hesselink Jolien W, Kanaar Roland, Verhagen Judith M A, Brüggenwirth Hennie T, van de Laar Ingrid M B H, van der Pluijm Ingrid, Essers Jeroen

Abstract excerpt

RATIONALE: Pathogenic (P)/likely pathogenic (LP) SMAD3 variants cause Loeys-Dietz syndrome type 3 (LDS3), which is characterized by arterial aneurysms, dissections and tortuosity throughout the vascular system combined with osteoarthritis. OBJECTIVES: Investigate the impact of P/LP SMAD3 variants with functional tests on patient-derived fibroblasts and vascular smooth muscle cells (VSMCs), to optimize...

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Source

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Identifiers

PMID: 38538566
DOI: 10.1093/hmg/ddae044
PMCID: PMC11153339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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