ArticleFrontiers in immunology2017
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Erratum issuedOpen access · goldAbstract read
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Article in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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33citing papers in PubMed
2.3field-weighted citation impact, top 12% of its field
What it found
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Who cites it
33 citing papers in PubMed, 53 citations in OpenAlex.
- Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.European journal of human genetics : EJHG · 2026Article
- Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.American journal of medical genetics. Part A · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.Blood cancer journal · 2025Article
- The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.Cell reports · 2025Article
- RTEL1 is upregulated in gastric cancer and promotes tumor growth.Journal of cancer research and clinical oncology · 2024Article
- Article
- A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells.Open biology · 2024Article
- Discovery of a Novel Shared Variant AmongInternational journal of genomics · 2024Article
- Article
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis.Biomolecules · 2023Review
- Regulator of telomere elongation helicase 1 gene and its association with malignancy.Cancer reports (Hoboken, N.J.) · 2023Review
- Case report: A novel mutation inFrontiers in oncology · 2023Article
- Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.European journal of immunology · 2022Article
- Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.Blood · 2022Article
- Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies.Frontiers in molecular biosciences · 2022Review
- Understanding inborn errors of immunity: A lens into the pathophysiology of monogenic inflammatory bowel disease.Frontiers in immunology · 2022Review
- Telomere Shortening and Its Association with Cell Dysfunction in Lung Diseases.International journal of molecular sciences · 2021Review
- Thymus-Derived CD4Journal of immunology (Baltimore, Md. : 1950) · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
30 authors at 14 institutions in 4 countries.
Carsten SpeckmannDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Sushree Sangita SahooDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Marta RizziCenter for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Shinsuke HirabayashiDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Axel KarowDepartment of Paediatrics, Univeristy of Bern, Bern, Switzerland.
Nina Kathrin SerwasLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Marc HoembergDepartment of Pediatric Hematology and Oncology, Children's Hospital, University of Cologne, Cologne, Germany.
Natalja DamatovaDepartment of Medical Genetics, Biozentrum, University of Wuerzburg, Wuerzburg, Germany.
Detlev SchindlerDepartment of Medical Genetics, Biozentrum, University of Wuerzburg, Wuerzburg, Germany.
Jean-Baptiste VannierTelomere Replication and Stability Group, MRC London Institute of Medical Sciences (LMS), London, UK.
Simon J BoultonTelomere Replication and Stability Group, MRC London Institute of Medical Sciences (LMS), London, UK.
Ulrich PannickeInstitute for Transfusion Medicine, Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, University Ulm, Ulm, Germany.
Gudrun GöhringDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Kathrin ThomayDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
J J Verdu-AmorosDepartment of Pediatric Hematology and Oncology, Justus-Liebig-University, Giessen, Germany.
Holger HauchDepartment of Pediatric Hematology and Oncology, Justus-Liebig-University, Giessen, Germany.
Wilhelm WoessmannDepartment of Pediatric Hematology and Oncology, Justus-Liebig-University, Giessen, Germany.
Gabriele EscherichClinic of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Eckart LaackHemato-Oncology Clinic Hamburg, Hamburg, Germany.
Liliana RindleDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Maximilian SeidlCenter for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Anne Rensing-EhlCenter for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ekkehart LauschDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Christine JandrasitsCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Brigitte StrahmDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Klaus SchwarzInstitute for Transfusion Medicine, Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, University Ulm, Ulm, Germany.
Stephan R EhlDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Charlotte NiemeyerDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kaan BoztugLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Marcin W WlodarskiDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
University of Freiburg · DEJustus-Liebig-Universität Gießen · DEGerman Cancer Research Center · DEGerman Red Cross · DEMedizinische Hochschule Hannover · DEMRC London Institute of Medical Sciences · GBUniversity of Würzburg · DECeMM Research Center for Molecular Medicine · ATLudwig Boltzmann Institute for Rare and Undiagnosed Diseases · ATMedical University of Vienna · ATUniversity Medical Center Freiburg · DEUniversity Medical Center Hamburg-Eppendorf · DEUniversity of Bern · CHUniversity of Cologne · DE
Funding
Austrian Science Fund FWF Y 595Cancer Research UK 11581
Abstract
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic
Indexed as
bone marrow failuredyskeratosis congenitaimmunodeficiencylymphopeniaRTEL1
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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.