ArticleGenes & development2024
Heterozygous
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In one paragraph
Article in Genes & development, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
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
9 citing papers in PubMed.
- Fission yeast RPA-TERT-Tpz1TPP1 complex promotes telomere extension and suppresses telomere recombination.PLoS genetics · 2026Article
- How telomere attrition protects against cancer.Nature reviews. Genetics · 2026Review
- Fission yeast RPA-TERT-Tpz1bioRxiv : the preprint server for biology · 2026Article
- A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.European journal of human genetics : EJHG · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Mice carrying the homologous human shelterin POT1-L259S mutation linked to pulmonary fibrosis show a telomerase deficiency-like phenotype with telomere shortening with increasing mouse generations.Genes & development · 2025Article
- Human RPA is an essential telomerase processivity factor for maintaining telomeres.Science (New York, N.Y.) · 2025Article
- Insights into the length and breadth of methodologies harnessed to study human telomeres.Biomarker research · 2024Article
- RFWD3: A pivotal E3 ubiquitin ligase in DNA damage response, non-neoplastic disorders and multi-system tumorigenesis.Science progressReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors.
Rima KochmanUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Ibrahima Ba *U1152 INSERM, Department of Genetics, Assistance Publique-Hôpitaux de Paris, Bichat Hospital, Paris Cité University, F-75018 Paris, France.
Maïlyn Yates *Department of Biology, Université de Sherbrooke, Sherbrooke, Québec J1K 2R1, Canada.
Vithura Pirabakaran *UMR1163 INSERM, Genome Dynamics in the Immune System Laboratory, Laboratoire labellisé Ligue 2023, Imagine Institute, Paris Cité University, F-75015 Paris, France.
Florian Gourmelon *UMR7196 CNRS, U1154 INSERM, Structure et Instabilité des Génomes, Muséum National d'Histoire Naturelle, F-75005 Paris, France.
Dmitri Churikov *UMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Marc LaffailleUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Laëtitia KermassonUMR1163 INSERM, Genome Dynamics in the Immune System Laboratory, Laboratoire labellisé Ligue 2023, Imagine Institute, Paris Cité University, F-75015 Paris, France.
Coline HamelinUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Isabelle MaroisDepartment of Biology, Université de Sherbrooke, Sherbrooke, Québec J1K 2R1, Canada.
Frédéric JourquinUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Laura BraudUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Marianne BecharaUMR7196 CNRS, U1154 INSERM, Structure et Instabilité des Génomes, Muséum National d'Histoire Naturelle, F-75005 Paris, France.
Elodie LaineyAssistance Publique Hôpitaux de Paris, Service d'Hématologie, Hôpital Robert Debré, Groupe Hospitalier Universitaire (GHU) AP-HP Nord, Université Paris Cité, F-75019 Paris, France.
Hilario NunesAssistance Publique Hôpitaux de Paris, Service de Pneumologie, Hôpital Avicenne, F-93000 Bobigny, France.
Philippe BretonCentre Hospitalier Universitaire (CHU) Les Sables d'Olonne, Pôle santé Service Pneumologie, 85340 Olonne, France.
Morgane PenhouetCHU Nantes, Hôpital Nord Laënnec Service de Pneumologie, Unité de Transplantation Thoracique, F-44093 Nantes, France.
Pierre DavidUMR1163 INSERM, Imagine Institute, Université de Paris, Transgenesis Facility, F-75015 Paris, France.
Vincent GéliUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.ORCID 0000-0002-4103-7462
Christophe LachaudUMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France.
Alexandre MaréchalDepartment of Biology, Université de Sherbrooke, Sherbrooke, Québec J1K 2R1, Canada.
Patrick Revy *UMR1163 INSERM, Genome Dynamics in the Immune System Laboratory, Laboratoire labellisé Ligue 2023, Imagine Institute, Paris Cité University, F-75015 Paris, France.
Caroline Kannengiesser *U1152 INSERM, Department of Genetics, Assistance Publique-Hôpitaux de Paris, Bichat Hospital, Paris Cité University, F-75018 Paris, France.
Carole Saintomé *UMR7196 CNRS, U1154 INSERM, Structure et Instabilité des Génomes, Muséum National d'Histoire Naturelle, F-75005 Paris, France.
Stéphane Coulon *UMR7258 Centre National de la Recherche Scientifique (CNRS), UMR1068 Institut National de la Santé et de la Recherche Médicale (INSERM), UM105 Aix Marseille University, Institut Paoli-Calmettes, Centre de Recherche en Cancérologie de Marseille (CRCM), Laboratoire Labellisée par la Ligue Nationale Contre le Cancer, F-13009 Marseille, France; stephane.coulon@inserm.fr.ORCID 0000-0001-8090-914X
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature telomere shortening or telomere instability is associated with a group of rare and heterogeneous diseases collectively known as telomere biology disorders (TBDs). Here we identified two unrelated individuals with clinical manifestations of TBDs and short telomeres associated with the identical monoallelic variant c.767A>G; Y256C in
Indexed as
Replication Protein ATelomereTelomere-Binding ProteinsFemaleHeterozygoteHumansMaleMutationShelterin ComplexTelomeraseTelomere ShorteningUbiquitinationUbiquitin-Protein LigasesPOT1 protein, humanReplication Protein ARPA2 protein, humanShelterin ComplexTelomeraseTelomere-Binding ProteinsUbiquitin-Protein LigasesRFWD3RPAtelomeretelomere disorderstelomere replication
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
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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 Socratic graph.