ataxia telangiectasia

The gene for the strange disease, known as ataxia telangiectasia, was discovered a year ago.

Article: Cognitive and speech-language performance in children with ataxia telangiectasia.

Ataxia telangiectasia afflicts about 1 in 40,000 Americans, but carriers are far more numerous.

Enables families of children affected by ataxia telangiectasia to seek information and share thoughts with other families.

In his new study, he looked at the health records of 1,599 relatives of people with ataxia telangiectasia and 821 of their spouses.

The normal role of the gene linked to ataxia telangiectasia and the protein it specifies is to monitor the cell's integrity.

A-T - Ataxia Telangiectasia - is a rare, inherited disease.

Increased serum levels in adults are also seen in acute hepatitis, colitis and ataxia telangiectasia.

One of the hallmarks of ataxia telangiectasia is that cells of patients are extremely sensitive to radiation.

The protein produced by the ataxia telangiectasia gene is one that is already known to be involved in a couple of different activities in the body.

Women who carry an abnormal ataxia telangiectasia (ATM) gene may be at increased risk of breast cancer.

The disease results from defects in the ataxia telangiectasia mutated (ATM) gene.

Accelerated telomere shortening in ataxia telangiectasia.

The gene is called A.T.M. (for ataxia telangiectasia mutated).

RRM2B has been shown to interact with Mdm2 and Ataxia telangiectasia mutated.

However, research has linked SH3D21 expression changes to male infertility and Ataxia Telangiectasia.

The protein is named for the disorder Ataxia telangiectasia caused by mutations of ATM.

NBS1, located on chromosome 8q, has an important role in DNA repair and is part of the ataxia telangiectasia pathway.

Ataxia telangiectasia (Louis-Bar)

Ataxia telangiectasia (AT) is a rare human disease characterized by cerebellar degeneration, extreme cellular sensitivity to radiation and a predisposition to cancer.

In the case of ataxia telangiectasia, however, scientists had been interested in the gene for years because they thought it might provide clues to the development of cancer.

Article: Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Ataxia telangiectasia like disorder (ATLD)

ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D)

The cancers associated with the gene, called the A.T.M. (for ataxia telangiectasia mutated), include those of the breast, lung, stomach, skin and pancreas.