Marfan syndrome (MFS ... and investigating the relationships between specific genetic mutations and clinical outcomes. This body of work is crucial for improving patient care and developing ...

Marfan syndrome (MFS) is an inherited disorder caused by mutations in the FBN1 gene encoding fibrillin-1, a matrix component of extracellular microfibrils. The main cause of morbidity and mortality in ...

Pathway perturbations common to all types of dissections include disruption of TGF-β signaling, the extracellular matrix, the cytoskeleton or metabolism, as evidenced by the finding of mutations in ..

Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the ...

At 27, she lives with Marfan syndrome, a genetic disorder that affects the connective tissues that hold organs in place. An eye appointment as a teenager led to the diagnosis. “I thought I had ...

The event was hosted by Local 10 News Anchor Kristi Krueger. About one in every 5,000 people have Marfan syndrome, a genetic disorder that affects the connective tissues that hold organs in place.

Researchers from Cologne, Bochum, Padova and Angers have discovered a novel connection between mitochondrial function, ...

In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression. [25] Vascular-type EDS may also be ...

Britain’s National Health Service (NHS) announced on Thursday that it has begun offering individuals with Jewish ancestry swabs to check for mutations in their BRCA genes, which are associated ...

Mutations of other genes can increase the risk of getting Alzheimer’s but do not necessarily cause it. Only a few rare gene mutations are known to cause Alzheimer’s – and the GRIN2C mutation ...

Their findings, published in Nature Aging, describe a never-before-seen link between the two most accepted explanations: random genetic mutations and predictable epigenetic modifications.