ArticleJournal of medical genetics1993
A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.Frontiers in neurology · 2023Article
- DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.Cancers · 2022Review
- Mechanistic link between DNA damage sensing, repairing and signaling factors and immune signaling.Advances in protein chemistry and structural biology · 2019Review
- Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by aNeurology. Genetics · 2018Article
- Mechanisms of DNA-protein crosslink repair.Nature reviews. Molecular cell biology · 2017Review
- Phenotypes and genotypes of the chromosomal instability syndromes.Translational pediatrics · 2016Review
- DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.Neurogenetics · 2014Review
- Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2014Article
- Structural studies of DNA end detection and resection in homologous recombination.Cold Spring Harbor perspectives in biology · 2014Review
- Evaluation of the gamma-H2AX assay for radiation biodosimetry in a swine model.International journal of molecular sciences · 2013Article
- Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity.International journal of hematology · 2012Review
- Nijmegen breakage syndrome (NBS).Orphanet journal of rare diseases · 2012Review
- Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.Cerebellum (London, England) · 2009Article
- Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?DNA repair · 2008Review
- Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.The Journal of cell biology · 2007Article
- Autosomal recessive cerebellar ataxias.Orphanet journal of rare diseases · 2006Review
- Molecular pathology of ataxia telangiectasia.Journal of clinical pathology · 2005Review
- Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.Oncogene · 2002Review
- The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.Clinical reviews in allergy & immunology · 2001Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). Both patients are still ambulatory at ages 25 and 20. Cellular features of both patients are typical of AT and include increased radiosensitivity and an increased level of spontaneously occurring chromosome aberrations in peripheral blood lymphocytes. Linkage studies and haplotype analysis show no clear evidence that the gene for AT in this family is on chromosome 11q22-23. As previously reported AT families from complementation groups AB, C, and D have all shown linkage to this region of 11q22-23. Our study is of importance in suggesting additional locus heterogeneity.
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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.