Ataxia-telangiectasia affects the nervous system, immune system, and other body systems.This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.
We drive innovative research, develop potential therapies, organize scientific conferences and sponsor a multidisciplinary clinical center for ataxia-telangiectasia (A-T), a fatal genetic disease that attacks children, causing progressive loss of muscle control, cancer, and immune system problems.
Ataxia-Telangiectasia (A-T) is a very rare condition with an estimated 200 cases in the UK. Most professionals will have limited knowledge or be unaware of the condition when a person is referred to them.
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Ataxia telangiectasia and Rad3 related - Wikipedia
Serine/threonine-protein kinase ATR also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1) is an enzyme that, in humans, is encoded by the ATR gene. ATR belongs to the phosphatidylinositol 3-kinase-related kinase protein family. ATR is activated in response to single strand breaks
Ataxia-telangiectasia (A-T) is a recessive disorder resulting from germline mutation of the A-T mutated (ATM) gene on chromosome 11q. Upon sensing double-stranded breaks (DSB), the wild-type kinase encoded by ATM initiates the DNA-damage response by phosphorylating histone H2AX and, subsequently, various other proteins, such as BRCA1 and the MRE11–RAD50–NBS1 (MRN) complex, which are ...
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Genetic Diseases (Disorder Definition, Types, and Examples ...
What is a genetic disease or disorder? Learn from a list of genetic diseases that are caused by abnormalities in an individual's genome. There are four main types of genetic inheritance, single, multifactorial, chromosome abnormalities, and mitochondrial inheritance. Genetic testing is available for some genetic diseases.
Linkage analysis of ataxia-telangiectasia led to mapping of the ATM gene to chromosome 11q22.3 (Gatti et al. (1988, 1993)).Matsuda et al. (1996) determined the chromosomal locations of the Atm and Acat1 genes in mouse, rat, and Syrian hamster by direct R-banding fluorescence in situ hybridization.The 2 genes colocalized to mouse 9C-D, the proximal end of rat 8q24.1, and 12qa4-qa5 of Syrian ...
D. Jazmati, T. Steinmeier, D. Ahamd Khalil, S. Frisch, S. Peters, S. Schulze Schleithoff, C. Bäumer, S. Rutkowski, M.C. Frühwald, C. Blase, S. Tippelt, B. Timmermann
DNA ligase is a specific type of enzyme, a ligase, (EC 6.5.1.1) that facilitates the joining of DNA strands together by catalyzing the formation of a phosphodiester bond.It plays a role in repairing single-strand breaks in duplex DNA in living organisms, but some forms (such as DNA ligase IV) may specifically repair double-strand breaks (i.e. a break in both complementary strands of DNA).
