ArticleAmerican journal of human genetics1996
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed.
- Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.Journal of mother and child · 2025Article
- A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.Italian journal of pediatrics · 2023Article
- Review
- TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.Clinical and experimental immunology · 2020Article
- Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Molecular genetics & genomic medicine · 2014Article
- A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.Molecular genetics & genomic medicine · 2014Article
- SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models.Annals of the New York Academy of Sciences · 2012Review
- ATM mutations in patients with hereditary pancreatic cancer.Cancer discovery · 2012Article
- Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.Neuromolecular medicine · 2011Article
- Nonaminoglycoside compounds induce readthrough of nonsense mutations.The Journal of experimental medicine · 2009Article
- ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.Human genetics · 2005Article
- Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Gene expression phenotype in heterozygous carriers of ataxia telangiectasia.American journal of human genetics · 2002Article
- Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Global analysis of ATM polymorphism reveals significant functional constraint.American journal of human genetics · 2001Article
- The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.Clinical reviews in allergy & immunology · 2001Review
- ATM protein synthesis patterns in sporadic breast cancer.Molecular pathology : MP · 1999Article
- Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer.British journal of cancer · 1999Article
- Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.American journal of human genetics · 1999Article
- Genotype-phenotype relationships in ataxia-telangiectasia and variants.American journal of human genetics · 1998Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
We have examined the distal half of the ataxia-telangiectasia (A-T) gene transcript for truncation mutations in 48 A-T affecteds. We found 21 mutations; 4 of the mutations were seen in more than one individual. Genotyping of the individuals sharing mutations, by using nearby microsatellite markers, established that three of the four groups shared common haplotypes, indicating that these were probably founder effects, not public mutations. The one public mutation was found in two American families, one of Ashkenazi Jewish background and the other not. Most truncations deleted the PI3-kinase domain, although some exceptions to this were found in patients with typical A-T phenotypes. All patients not previously known to be consanguineous were found to be compound heterozygotes when mutations could be identified--that is, normal and abnormal protein segments were seen on SDS-PAGE gels. All 48 patients gave RT-PCR products, indicating the presence of relatively stable mRNAs despite their mutations. These results suggest that few public mutations or hot spots can be expected in the A-T gene and that epidemiological studies of A-T carrier status and associated health risks will have to be designed around populations with frequent founder-effect mutations, despite the obvious limitations of this approach.
Indexed as
Identifiers
8659541PMC1915099What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.