Inclusion criteria required participants to have previously undergone voluntary genetic testing for the presence of the CAG expansion in the HD gene, huntingtin, on the short arm of chromosome 4.

A study led by bioengineers at the University of California San Diego sheds new light on how a type of heart valve disease, called aortic valve stenosis, progresses differently in males and females.

Among the many marvels of life is the cell's ability to divide and thus enable organisms to grow and renew themselves. For ...

Scientists at EMBL have captured how human chromosomes fold into their signature rod shape during cell division, using a ...

Congenital heart disease (CHD) is one of the most common birth defects, but the full extent of its genetic underpinnings has ...

Females have one active X chromosome and one dormant X chromosome in each cell. But a study suggests that genes on the ...

The disease is caused by a mutation in the gene coding for huntingtin, which causes the formation of an abnormally long and unstable form of the protein that is chopped up by cellular repair ...

After identification of the HD gene mutation in 1993, CAG repeat size analysis of the huntingtin gene allowed complete certainty of either having or not having HD.2 Risk carriers, being raised in a ...