Trial reportInternational journal of hematology2015
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.
Trial report in International journal of hematology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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.
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.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Canonical and non-canonical functions of the non-coding RNA component (TERC) of telomerase complex.Cell & bioscience · 2025Review
- Skin cancer-associated genodermatoses in skin of color patients: a review.Archives of dermatological research · 2024Review
- Article
- Dyskeratosis congenita with heterozygousRespiratory medicine case reports · 2023Article
- Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.International journal of hematology · 2022Review
- Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.Frontiers in pediatrics · 2022Article
- Regulation of human telomerase RNA biogenesis and localization.RNA biology · 2021Review
- PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation.Clinical epigenetics · 2020Article
- An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.Expert review of hematology · 2019Review
- TERC promotes cellular inflammatory response independent of telomerase.Nucleic acids research · 2019Article
- Clinical features of dyskeratosis congenita in mainland China: case reports and literature review.International journal of hematology · 2019Review
- [Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- The histopathology of bone marrow failure in children.Journal of clinical and experimental hematopathology : JCEH · 2018Review
- Clinical heterogeneity in a family withPediatric reports · 2017Article
- Clinical and Molecular Heterogeneity of RTEL1 Deficiency.Frontiers in immunology · 2017Article
- A Case of Presumed Dyskeratosis Congenita Causing Severe Retinal Vascular Occlusion.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC.
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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.