A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene ...

During a routine test, Johnny's middle school nurse discovered his severe scoliosis, a prevalent symptom of Marfan. This unexpectedly set his family on a path to uncover his underlying diagnosis at ...

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 ...

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 ...

Department of Cardiovascular Medicine, The University of Tokyo, Bunkyo-ku, Japan. (H. Yagi, H.A., Q.L., A.S.-K., M.U., H.K., R.M., A.S., S.O., H.T., Norifumi Takeda ...

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

Purpose: The incidence of lung cancer is closely associated with diabetes; however, it remains unclear whether diabetes influences the genetic mutations present in lung cancer. Therefore, we will ...

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.

Summary: A new study has uncovered a direct link between somatic mutations and epigenetic modifications, challenging established views on aging. Researchers found that random genetic mutations drive ...

Results from 4 healthy controls (WT; 1-4), 1 patient with Activating p110 Delta Syndrome 2 (APDS2) due to the p85α Δexon11 variant, and 3 patients with PIK3CA-Related Overgrowth Spectrum (PROS) caused ...

Health authorities and researchers are closely examining the mutations found in the virus extracted from the 65-year-old man, who was infected through contact with backyard birds contaminated by ...