Page last updated: 2024-10-16

adenine and Ataxia Telangiectasia

adenine has been researched along with Ataxia Telangiectasia in 2 studies

Ataxia Telangiectasia: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

Research Excerpts

ExcerptRelevanceReference
"All patients had a family history of tumors previously associated with A-T heterozygosity or homozygosity."1.29ATM mutations in cancer families. ( Croce, CM; Hammarström, L; Lindblom, A; Luo, L; Negrini, M; Vorechovský, I; Webster, AD, 1996)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Vorechovský, I1
Luo, L1
Lindblom, A1
Negrini, M1
Webster, AD1
Croce, CM1
Hammarström, L1
Saviozzi, S1
Saluto, A1
Taylor, AM1
Last, JI1
Trebini, F1
Paradiso, MC1
Grosso, E1
Funaro, A1
Ponzio, G1
Migone, N1
Brusco, A1

Other Studies

2 other studies available for adenine and Ataxia Telangiectasia

ArticleYear
ATM mutations in cancer families.
    Cancer research, 1996, Sep-15, Volume: 56, Issue:18

    Topics: Adenine; Alleles; Ataxia Telangiectasia; Ataxia Telangiectasia Mutated Proteins; Breast Neoplasms; C

1996
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
    Journal of medical genetics, 2002, Volume: 39, Issue:1

    Topics: Adenine; Adult; Ataxia Telangiectasia; Female; Genetic Carrier Screening; Genotype; Guanine; Humans;

2002