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Generation and characterization of Induced Pluripotent Stem Cell models with <i>SMAD3</i> mutations to study the molecular mechanism of Loeys-Dietz Syndrome Type III aneurysm formation

2025-08-27

Abstract excerpt

Loeys-Dietz Syndrome type 3 (LDS3) is caused by pathogenic (P)/likely pathogenic (LP) variants in the SMAD3 gene and is characterized by aneurysm formation and arterial tortuosity, which can lead to life-threatening complications. There is an unmet need for suitable cell models to study LDS3 at a cellular and molecular level. Induced pluripotent stem (iPS) cells offer a promising approach because they can be gene...

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Literature Corpus work
09d4268e-341c-523f-839c-9c7d5910128a
DOI
10.1101/2025.08.26.667399
Open publication

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Generation and characterization of Induced Pluripotent Stem Cell models with <i>SMAD3</i> mutations to study the molecular mechanism of Loeys-Dietz Syndrome Type III aneurysm formationDOI 10.1101/2025.08.26.667399
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