ArticleAmerican journal of human genetics2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
3.9field-weighted citation impact, top 6% of its field
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26 citing papers in PubMed, 43 citations in OpenAlex.
- FACT-(H3-H4) complex stimulates Pol α activity to coordinate DNA synthesis with nucleosome assembly.Science advances · 2026Article
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Partitioning of parental histones between leading and lagging strands is modulated by DNA polymerase dosage.Nucleic acids research · 2026Article
- Binding of SARS-CoV-1/2 NSP1 to DNA Polymerase α-Primase Inhibits DNA Replication through Reduction of Interaction between DNA and DNA Polymerase α-Primase.Journal of chemical information and modeling · 2025Article
- Nsp1 stalls DNA polymerase α at DNA hairpins.Scientific reports · 2025Article
- The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.EMBO molecular medicine · 2024Article
- Nsp1 stalls DNA Polymerase α at DNA hairpins.bioRxiv : the preprint server for biology · 2024Article
- Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.American journal of human genetics · 2024Article
- Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR).Journal of clinical immunology · 2024Article
- DNA Damage Responses, the Trump Card of Stem Cells in the Survival Game.Advances in experimental medicine and biology · 2024Review
- Embracing Heterogeneity: Challenging the Paradigm of Replisomes as Deterministic Machines.Chemical reviews · 2023Review
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- CADM2 is implicated in impulsive personality and numerous other traits by genome- and phenome-wide association studies in humans and mice.Translational psychiatry · 2023Article
- Association of Mutations in Replicative DNA Polymerase Genes with Human Disease: Possible Application ofInternational journal of molecular sciences · 2023Review
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- Structural basis for the interaction of SARS-CoV-2 virulence factor nsp1 with DNA polymerase α-primase.Protein science : a publication of the Protein Society · 2022Article
- Disruption of origin chromatin structure by helicase activation in the absence of DNA replication.Genes & development · 2021Article
- Childhood Obesity-Related Mechanisms: MicroRNome and Transcriptome Changes in a Nested Case-Control Study.Biomedicines · 2021Article
- Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.Cellular & molecular immunology · 2021Review
- Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency.Journal of clinical immunology · 2021Review
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Authors and funding
20 authors at 10 institutions in 5 countries.
Hilde Van EschCenter for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address: hilde.vanesch@med.kuleuven.be.
Rita ColnaghiGenome Damage and Stability Centre, University of Sussex, BN1 9RQ Sussex, UK.
Kathleen FresonDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
Petro StarokadomskyyDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Andreas ZanklDepartment of Clinical Genetics, the Children's Hospital at Westmead, Westmead, NSW 2145, Australia; Children's Hospital Westmead Clinical School, Sydney Medical School, the University of Sydney, Westmead, NSW 2145, Australia; Bone Biology Division and Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Liesbeth BackxLaboratory for the Genetics of Cognition, Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
Iga AbramowiczGenome Damage and Stability Centre, University of Sussex, BN1 9RQ Sussex, UK.
Emily OutwinGenome Damage and Stability Centre, University of Sussex, BN1 9RQ Sussex, UK.
Luis RohenaDivision of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX 78234, USA.
Claire FaulknerBristol Genetics Laboratory, Southmead Hospital, BS10 5NB Bristol, UK.
Gary M LeongDepartment of Paediatrics, Nepean Hospital, Nepean Clinical School, the University of Sydney, Kingswood, NSW 2747, Australia.
Ruth A Newbury-EcobClinical Genetics, St. Michael's Hospital, University Hospitals NHS Trust, BS2 8HW Bristol, UK.
Rachel C ChallisMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU Edinburgh, UK.
Katrin ÕunapDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
Jacques JaekenCenter for Metabolic Diseases, University Hospitals Leuven, 3000 Leuven, Belgium.
Eve SeuntjensDevelopmental Neurobiology, Department of Biology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
Koen DevriendtCenter for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
Ezra BursteinDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390 Texas, USA.
Karen J LowClinical Genetics, St. Michael's Hospital, University Hospitals NHS Trust, BS2 8HW Bristol, UK.
Mark O'DriscollGenome Damage and Stability Centre, University of Sussex, BN1 9RQ Sussex, UK. Electronic address: m.o-driscoll@sussex.ac.uk.
KU Leuven · BEUniversity of Sussex · GBSt Michael’s Hospital · GBThe University of Sydney · AUThe University of Texas Southwestern Medical Center · USBrooke Army Medical Center · USCenter for Human Genetics · USInstitute of Genetics and Cancer · GBSouthmead Hospital · GBTartu University Hospital · EE
Funding
NF-kB Signaling Insights from a Rare X-linked Immunodeficiency SyndromeR56AI113274 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI BURSTEIN, EZRA, ZINN, ANDREW R. · 2014 to 2014
$398kCancer Research UK 15394
Abstract
Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of the complex machinery that achieves this task are three members of the B family of DNA polymerases: DNA polymerases α, δ, and ε. Collectively these multimeric polymerases ensure DNA replication proceeds at optimal rates approaching 2 × 10
Indexed as
MutationAdolescentAdultChildChild, PreschoolDNA Polymerase IDNA PrimaseExome SequencingFemaleGenetic Diseases, X-LinkedGenotypeGrowth DisordersHumansHypogonadismInfantIntellectual DisabilityDNA polymerase alpha-primaseDNA Polymerase IDNA Primasegrowth retardationintellectual disabilitymicrocephalyPOLA1polymerase alphaX-linked
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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.