ReviewHematology. American Society of Hematology. Education Program2022
Dyskeratosis congenita and telomere biology disorders.
Review in Hematology. American Society of Hematology. Education Program, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
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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.
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Who cites it
57 citing papers in PubMed, 83 citations in OpenAlex.
- Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.EClinicalMedicine · 2026Review
- RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.Nature communications · 2026Article
- A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome.Clinical genetics · 2026Review
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Skin aging: mechanisms, evaluation, and rejuvenation.The EMBO journal · 2026Review
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Should Sickle Cell Disease Be Considered a Cancer Predisposition Syndrome?Children (Basel, Switzerland) · 2026Review
- Subclinical Telomere Biology Disorder in Cancer Patients Heterozygous for the RTEL1 R1264H Founder Variant.American journal of medical genetics. Part A · 2026Article
- A Case of Long-Term Management of Oral Function in a Child with Dyskeratosis Congenita.Diagnostics (Basel, Switzerland) · 2026Article
- Mathematical modelling of premature haematopoietic ageing in dyskeratosis congenita.Scientific reports · 2026Article
- Rare genetic diseases associated with G-quadruplex-induced replication stress.Communications biology · 2026Review
- Adriamycin, Vinblastine and Dacarbazine With Immunotherapy Achieves Complete Metabolic Response in a Patient With Classical Hodgkin Lymphoma and Dyskeratosis Congenita.Journal of hematology · 2026Article
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.Clinical genetics · 2026Article
- TARPON-A Telomere Analysis and Research Pipeline Optimized for Nanopore.PLoS computational biology · 2026Article
- Poikiloderma with neutropenia, Clericuzio-type: Case report of a 7-year-old Syrian child.Medicine · 2026Article
- Application of machine learning in the diagnostic work-up of telomere biology disorders.HemaSphere · 2026Article
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- PUMA-induced apoptosis drives bone marrow failure and genomic instability in telomerase-deficient mice.Cell death and differentiation · 2026Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic dyskeratosis congenita (DC) triad of nail dysplasia, abnormal skin pigmentation, and oral leukoplakia occurring with pediatric bone marrow failure. Patients with DC/TBDs have very short telomeres for their age and are at high risk of bone marrow failure, cancer, pulmonary fibrosis (PF), pulmonary arteriovenous malformations, liver disease, stenosis of the urethra, esophagus, and/or lacrimal ducts, avascular necrosis of the hips and/or shoulders, and other medical problems. However, many patients with TBDs do not develop classic DC features; they may present in middle age and/or with just 1 feature, such as PF or aplastic anemia. TBD-associated clinical manifestations are progressive and attributed to aberrant telomere biology caused by the X-linked recessive, autosomal dominant, autosomal recessive, or de novo occurrence of pathogenic germline variants in at least 18 different genes. This review describes the genetics and clinical manifestations of TBDs and highlights areas in need of additional clinical and basic science research.
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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.