Genetics

Single mutation leads to big effects in autism-related gene

A new study in Neuron offers clues to why autism spectrum disorder (ASD) is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been ...

Oncology & Cancer

Understanding why men get more cancer than women

Peter Mac-led research has shed new light on why men are more likely than women to get cancer, uncovering a new role for the X chromosome in affecting cancer risk and mortality.

Genetics

Genetics researchers find new neurodevelopmental syndrome

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...

Diseases, Conditions, Syndromes

For this mom, rare bone disease is a family affair

Most people expect some risk in activities like mountain biking or rollerblading, but few would expect to end up in the emergency room with a broken thigh bone from doing a squat.

Genetics

Fat-absorbing XX chromosomes raise heart disease risk in women

New research at the University of Kentucky has confirmed that the presence of XX sex chromosomes increases the amount of fat circulating in the blood, which leads to narrowing of the arteries and ultimately a higher risk ...

Genetics

Famous cancer-fighting gene also protects against birth defects

New research has revealed how the famous tumour suppressor gene p53 is surprisingly critical for development of the neural tube in female embryos. This is important because healthy development of the neural tube is needed ...

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X chromosome

The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals (the other is the Y chromosome). It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique properties by early researchers, and this resulted in its counterpart being named the Y chromosome for the next letter in the alphabet when it was discovered later.

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