Transforming growth factor beta (TGFβ) is named for the function it was originally discovered
to perform-transformation of normal cells into aggressively growing malignant cells. It …

Abstract Marfan syndrome (MFS, OMIM# 154700) is a hereditary connective tissue disorder,
clinically presenting with cardinal features of skeletal, ocular, and cardiovascular systems. In …

There are urgent demands for efficient treatment of heritable genetic diseases. The base
editing technology has displayed its efficiency and precision in base substitution in human …

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …

The CRISPR-Cas system has undoubtedly revolutionized the genome editing field, enabling
targeted gene disruption, regulation, and recovery in a guide RNA-specific manner. In this …

Rationale: Thoracic aortic aneurysm (TAA) leads to substantial mortality worldwide. Familial
and syndromic TAAs are highly correlated with genetics. However, the incidence of sporadic …

Background Bicuspid aortic valve (BAV) is the most frequent congenital heart disease with
frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV …

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively
common skeletal dysplasias resulting in short‐limbed dwarfism, joint pain, and stiffness …

Purpose: Marfan syndrome is a systemic disorder that typically involves FBN1 mutations and
cardiovascular manifestations. We investigated FBN1 genotype–phenotype correlations with …

Fibrillin-1 is a major component of the extracellular microfibrils, where it interacts with other
extracellular matrix proteins to provide elasticity to connective tissues, and regulates the …