Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.

Researchers at Linköping University in Sweden made an unexpected discovery while investigating genetically unique women. Their insights advance our understanding of our most enigmatic chromosome, the ...

Autoimmune diseases, including systemic lupus erythematosus (SLE), are more common in women than men, and scientists are still trying to figure out why. One reason may be related to the number of X ...

A mother has launched a desperate appeal for stem cell donors to save her two young sons, who are battling a rare and ...

Extra X chromosomes significantly increase the risk for systemic lupus erythematosus (SLE) and Sjögren disease, with the prevalence of these conditions being higher among patients with Klinefelter and ...

Deb Jenssen never wanted her children to suffer from the disease that killed her brother at 28. The illness, Duchenne muscular dystrophy, initially manifests in childhood as trouble with strength and ...

In female mammals, one of the two X chromosomes is usually inactive and forms the so-called Barr body. The image shows a cell nucleus with the Barr body marked in green. Unlike men, who carry one X ...

Researchers at Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have identified a mechanism that protects the female brain from genetic diseases. Although one of the two X chromosomes is ...