The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling
pathways play a pivotal role in bone development and skeletal health. More than 30 different …

The fibrillins are large extracellular matrix molecules that polymerize to form microfibrils.
Fibrillin microfibrils are distinctive architectural elements that are both ubiquitous in the …

Secreted metalloproteases have diverse roles in the formation, remodeling, and the
destruction of extracellular matrix. Recessive mutations in the secreted metalloprotease …

Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present
with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are …

Fibrillins (FBNs) are key relay molecules that form the backbone of microfibrils in elastic and
non‑elastic tissues. Interacting with other components of the extracellular matrix (ECM) …

Background Weill-Marchesani syndrome (WMS) belongs to the group of acromelic
dysplasias, defined by short stature, brachydactyly and joint limitations. WMS is …

Geleophysic dysplasia is a rare, frequently lethal condition characterized by severe short
stature with progressive joint contractures, cardiac, pulmonary, and skin anomalies …

Weill–Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal
recessive and dominant modes of inheritance. WMS is characterized by the association of …

Introduction: Marfan syndrome (MFS) is a connective tissue disorder with highly variable
features in cardiovascular, ocular and skeletal systems. MFS is generally caused by one of …

Fibrillin-1 is the major component of the 10–12 nm diameter extracellular matrix microfibrils.
The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan …