Evidence map›Paper›PMID 41288530›Full record

ArticleBlood2026

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.

Sophie de Tocqueville, Flavia Donaires, Nicholas DeCleene, Ibrahima Ba, Mina Nouri, Laëtitia Kermasson, Malika Chelbi, Emmanuel Bergot, Thierry Leblanc, Raphael Borie and 19 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Blood, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Origins and timing of somatic variants in the brain.Current opinion in genetics & development · 2026
    Review
  2. Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

29 authors.

Sophie de TocquevilleLaboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer "LIGUE 2023", INSERM UMR 1163, Imagine Institute, Paris, France.ORCID 0000-0002-0064-6907
Flavia DonairesDepartment of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.ORCID 0000-0001-9996-1298
Nicholas DeCleeneDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.
Ibrahima BaAssistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris, France.ORCID 0000-0001-5338-3883
Mina NouriLaboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer "LIGUE 2023", INSERM UMR 1163, Imagine Institute, Paris, France.
Laëtitia KermassonLaboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer "LIGUE 2023", INSERM UMR 1163, Imagine Institute, Paris, France.
Malika ChelbiAssistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris, France.
Emmanuel BergotDepartment of Pneumology, CHU Caen Normandie, Caen, France.
Thierry LeblancPediatric Immunology and Hematology Department and CRMR aplasies médullaires, Robert Debré Hospital, Groupe Hospitalier Universitaire, Assistance Publique-Hôpitaux de Paris Nord, Université de Paris Cité, Paris, France.
Raphael BorieService de Pneumologie, Allergologie et Transplantation, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Centre de référence constitutif des maladies pulmonaires rares, Paris, France.ORCID 0000-0002-9906-0024
Quentin PhilippotService de Pneumologie, Allergologie et Transplantation, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Centre de référence constitutif des maladies pulmonaires rares, Paris, France.
Elise AntonePneumopôle d'Aunis, La Rochelle, France.ORCID 0009-0005-5337-6292
Grégoire PrévotService de Pneumologie, Hôpital Larrey CHU Toulouse, Toulouse, France.
Elodie BlanchardService de Pneumologie, CHU de Bordeaux, Bordeaux, France.
Boris KerenAssistance Publique-Hôpitaux de Paris, Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Elodie LaineyHematology Laboratory, Robert Debré Hospital-Assistance Publique-Hôpitaux de Paris, INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris, France.
Marilia CattoDepartment of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.ORCID 0009-0008-2107-6174
Barbara SantanaDepartment of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Settara C ChandrasekharappaCancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-8084-0530
Frank X DonovanCancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-7712-2335
Luiz Fernando Bazzo CattoTranslational Stem Cell Biology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.
Isabelle CallebautSorbonne Université, Museum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, Paris, France.ORCID 0000-0003-3124-887X
Neal S YoungHematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD.ORCID 0009-0007-0999-2519
Carine Halfon-DomenechInstitute of Pediatric Hematology-Oncology, University of Lyon 1, Hospices Civils de Lyon, Lyon, France.
Rodrigo T CaladoDepartment of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.ORCID 0000-0002-7966-6029
Alison A BertuchDepartment of Pediatrics, Baylor College of Medicine, Houston, TX.ORCID 0000-0003-1864-8502
Fernanda Gutierrez-RodriguesHematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD.ORCID 0000-0003-3116-4588
Caroline KannengiesserAssistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris, France.
Patrick RevyLaboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer "LIGUE 2023", INSERM UMR 1163, Imagine Institute, Paris, France.ORCID 0000-0003-0758-8022

Funding

Molecular Genetics of the Telomere Biology DisordersR01HL131744 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BERTUCH, ALISON A, HOCKEMEYER, DIRK · 2016 to 2025
$4.5M
NHLBI NIH HHS R01 HL131744
6 · The paper itself

Abstract

abstractWe show that somatic genetic rescue is frequent in telomere biology disorders (TBDs) caused by germ line ZCCHC8 variants. Our results highlight the critical intrinsic role of ZCCHC8 in human hematopoiesis and a potential mechanism for disease modification in TBDs.

Identifiers

PMID41288530
PMCPMC12952278

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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.