Ataxia telangiectasia: more variation at clinical and cellular levels
Author:
Affiliation:
1. School of Cancer Sciences; University of Birmingham; Birmingham UK
Funder
Cancer Research UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference56 articles.
1. The ATM protein kinase: regulating the cellular response to genotoxic stress, and more;Shiloh;Nat Rev Mol Cell Biol,2013
2. The RAG2 C-terminus and ATM protect genome integrity by controlling antigen receptor gene cleavage;Chaumeil;Nat Commun,2013
3. Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity;Driessen;J Allergy Clin Immunol,2013
4. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours;Reiman;Br J Cancer,2011
5. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection;Boder;Pediatrics,1958
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1. Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity;International Journal of Biological Macromolecules;2024-10
2. Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder;Human Molecular Genetics;2024-06-18
3. Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia;Frontiers in Neurology;2024-05-31
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