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Ataxia Telangiectasia

Known as: ATAXIA-TELANGIECTASIA, Louis Bar Syndrome, AT, COMPLEMENTATION GROUP A 
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in… Expand
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Review
2019
Review
2019
The DNA damage response (DDR) pathway coordinates the identification, signaling, and repair of DNA damage caused by endogenous or… Expand
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Review
2018
Review
2018
Metallothioneins (MTs) are small cysteine-rich proteins that play important roles in metal homeostasis and protection against… Expand
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Review
2018
Review
2018
An estimated 105 DNA lesions occur daily in the mammalian genome as a consequence of spontaneous decay, replication errors, and… Expand
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Review
2018
Review
2018
The development of the reprogramming technology led to generation of induced Pluripotent Stem Cells (iPSC) from a variety of… Expand
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Highly Cited
2004
Highly Cited
2004
The serine/threonine protein kinase ATM signals to cell cycle and DNA repair components by phosphorylating downstream targets… Expand
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Highly Cited
1996
Highly Cited
1996
A murine model of ataxia telangiectasia was created by disrupting the Atm locus via gene targeting. Mice homozygous for the… Expand
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Highly Cited
1995
Highly Cited
1995
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning… Expand
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Highly Cited
1992
Highly Cited
1992
Cell cycle checkpoints can enhance cell survival and limit mutagenic events following DNA damage. Primary murine fibroblasts… Expand
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Highly Cited
1975
Highly Cited
1975
ATAXIA telangiectasia (AT) is an autosomal recessive defect in man showing among the clinical features1 : cerebellar ataxia… Expand
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