ArticleAmerican journal of human genetics2007
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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
30 citing papers in PubMed, 77 citations in OpenAlex.
- ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome.Nature cell biology · 2025Article
- DNA Damage and Replication Stress Checkpoints.Annual review of biochemistry · 2025Review
- A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.eLife · 2024Article
- Article
- Article
- Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development.Scientific reports · 2021Article
- Deconstructing cortical folding: genetic, cellular and mechanical determinants.Nature reviews. Neuroscience · 2019Review
- ATR is a multifunctional regulator of male mouse meiosis.Nature communications · 2018Article
- Severe congenital microcephaly with AP4M1 mutation, a case report.BMC medical genetics · 2017Article
- DNA damage response defect in Williams-Beuren syndrome.International journal of molecular medicine · 2017Article
- Protein dynamics of human RPA and RAD51 on ssDNA during assembly and disassembly of the RAD51 filament.Nucleic acids research · 2017Article
- The Response to Oxidative DNA Damage in Neurons: Mechanisms and Disease.Neural plasticity · 2016Review
- Replication protein A: single-stranded DNA's first responder: dynamic DNA-interactions allow replication protein A to direct single-strand DNA intermediates into different pathways for synthesis or repair.BioEssays : news and reviews in molecular, cellular and developmental biology · 2014Review
- Maintaining genome stability in the nervous system.Nature neuroscience · 2013Review
- The ATM protein kinase: regulating the cellular response to genotoxic stress, and more.Nature reviews. Molecular cell biology · 2013Review
- Nijmegen breakage syndrome (NBS).Orphanet journal of rare diseases · 2012Review
- Repair-specific functions of replication protein A.The Journal of biological chemistry · 2012Article
- Understanding the impact of 1q21.1 copy number variant.Orphanet journal of rare diseases · 2011Article
- Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.PLoS genetics · 2011Article
- Haploinsufficiency and the sex chromosomes from yeasts to humans.BMC biology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
Abstract
Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe microcephaly and growth delay. Impaired ATR signaling is also observed in cell lines from additional disorders characterized by microcephaly and growth delay, including non-ATR-SS, Nijmegen breakage syndrome, and MCPH1 (microcephaly, primary autosomal recessive, 1)-dependent primary microcephaly. Here, we examined ATR-pathway function in cell lines from three haploinsufficient contiguous gene-deletion disorders--a subset of blepharophimosis-ptosis-epicanthus inversus syndrome, Miller-Dieker lissencephaly syndrome, and Williams-Beuren syndrome--in which the deleted region encompasses ATR, RPA1, and RFC2, respectively. These three genes function in ATR signaling. Cell lines from these disorders displayed an impaired ATR-dependent DNA damage response. Thus, we describe ATR signaling as a pathway unusually sensitive to haploinsufficiency and identify three further human disorders displaying a defective ATR-dependent DNA damage response. The striking correlation of ATR-pathway dysfunction with the presence of microcephaly and growth delay strongly suggests a causal relationship.
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.