Adipose, skeletal, and hepatic muscle tissues are the main endocrine organs that produce
adipokines, myokines, and hepatokines. These biomarkers can be harmful or beneficial to …

Progeroid disorders make up a heterogeneous group of very rare hereditary diseases
characterized by clinical signs that often mimic physiological aging in a premature manner …

Severe congenital neutropenia (SCN) is a life-threatening disorder most often caused by
dominant mutations of ELANE that interfere with neutrophil maturation. We conducted a …

The fibrillinopathies represent a group of diseases in which the 10–12 nm extracellular
microfibrils are disrupted by genetic variants in one of the genes encoding fibrillin …

Marfan syndrome (MFS, OMIM: 154700) is a heritable multisystemic disease characterized
by a wide range of clinical manifestations. The underlying molecular defect is caused by …

Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking
guidelines for diagnosis, management and monitoring of evolutive complications. Less than …

With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare
conditions characterized by a lack of adipose tissue, which is not generally recovered. As a …

Background Coronary artery disease (CAD) is considered as a multi-faceted chronic
inflammatory disease involving reduced blood supply to the myocardium as a result of …

Background Mutations in the fibrillin‐1 gene (FBN1) are associated with various heritable
connective tissue disorders (HCTD). The most studied HCTD is Marfan syndrome. Ninety …

Marfan syndrome (MIM:# 154700; MFS) is an autosomal dominant disease representing the
most common form of heritable connective tissue disorder. The condition presents variable …