ArticleAmerican journal of human genetics2002
Gene expression phenotype in heterozygous carriers of ataxia telangiectasia.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
25 citing papers in PubMed, 59 citations in OpenAlex.
- In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.Molecular and cellular biochemistry · 2018Trial
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.BioData mining · 2025Article
- Landscape of human protein-coding somatic mutations across tissues and individuals.bioRxiv : the preprint server for biology · 2025Article
- A spectrum of recessiveness among Mendelian disease variants in UK Biobank.American journal of human genetics · 2022Article
- Single-cell sequencing reveals lineage-specific dynamic genetic regulation of gene expression during human cardiomyocyte differentiation.PLoS genetics · 2022Article
- Individual Radiosensitivity Assessment of the Families ofSultan Qaboos University medical journal · 2018Article
- Low-dose radiation risk and individual variation in radiation sensitivity in Fukushima.Journal of radiation research · 2016Article
- Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.Physiological genomics · 2013Article
- Deletion of a single allele of the Pex11β gene is sufficient to cause oxidative stress, delayed differentiation and neuronal death in mouse brain.Disease models & mechanisms · 2012Article
- A gene expression phenotype in lymphocytes from Friedreich ataxia patients.Annals of neurology · 2011Article
- Genome-wide DNA methylation analysis in cohesin mutant human cell lines.Nucleic acids research · 2010Article
- A resource for analysis of microRNA expression and function in pancreatic ductal adenocarcinoma cells.Cancer biology & therapy · 2009Article
- Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.Molecular genetics and metabolism · 2009Article
- Aberrant CDKN1A transcriptional response associates with abnormal sensitivity to radiation treatment.British journal of cancer · 2008Article
- Gene expression analysis of macrophages derived from ankylosing spondylitis patients reveals interferon-gamma dysregulation.Arthritis and rheumatism · 2008Article
- BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.PLoS genetics · 2008Article
- Ataxia telangiectasia-mutated dependent DNA damage checkpoint functions regulate gene expression in human fibroblasts.Molecular cancer research : MCR · 2007Article
- Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).Molecular genetics and metabolism · 2007Article
- Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype.Genome research · 2006Article
- From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation.Human genomics · 2006Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
The defining characteristic of recessive diseases is the absence of a phenotype in the heterozygous carriers. Nonetheless, subtle manifestations may be detectable by new methods, such as expression profiling. Ataxia telangiectasia (AT) is a typical recessive disease, and individual carriers cannot be reliably identified. As a group, however, carriers of an AT disease allele have been reported to have a phenotype that distinguishes them from normal control individuals: increased radiosensitivity and risk of cancer. We show here that the phenotype is also detectable, in lymphoblastoid cells from AT carriers, as changes in expression level of many genes. The differences are manifested both in baseline expression levels and in response to ionizing radiation. Our findings show that carriers of a recessive disease may have an "expression phenotype." In the particular case of AT, this suggests a new approach to the identification of carriers and enhances understanding of their increased cancer risk. More generally, we demonstrate that genomic technologies offer the opportunity to identify and study unaffected carriers, who are hundreds of times more common than affected patients.
Indexed as
Identifiers
What 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.