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 ...

Immunology

Unlocking the female bias in lupus

The autoimmune disease lupus, which can cause fatigue, a facial rash, and joint pain, strikes females far more often than males. Eight-five percent of people with lupus are female, and their second X chromosome seems partly ...

Oncology & Cancer

Muscle gene mutations implicated in human nasal/sinus cancer

By sequencing the entire genomes of tumor cells from six people with a rare cancer of the nose and sinus cavity, Johns Hopkins researchers report they unexpectedly found the same genetic change¾one in a gene involved in ...

Medical research

A molecule for fighting muscular paralysis

Myotubular myopathy is a severe genetic disease that leads to muscle paralysis from birth and results in death before two years of age. Although no treatment currently exists, researchers from the University of Geneva (UNIGE), ...

Genetics

For keeping X chromosomes active, chromosome 19 marks the spot

After nearly 40 years of searching, Johns Hopkins researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos ...

Genetics

Seven genes for X-linked intellectual disability

X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven ...

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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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