ReviewInternational journal of hematology2010
Recent progress in dyskeratosis congenita.
Review in International journal of hematology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
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
15 citing papers in PubMed, 40 citations in OpenAlex.
- A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.Iranian biomedical journal · 2023Article
- Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.Genes · 2022Review
- DNA-dependent protein kinase in telomere maintenance and protection.Cellular & molecular biology letters · 2020Review
- Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.Journal of medical case reports · 2019Article
- Clinical features of dyskeratosis congenita in mainland China: case reports and literature review.International journal of hematology · 2019Review
- Spontaneous tumor development in bone marrow-rescued DNA-PKcs(3A/3A) mice due to dysfunction of telomere leading strand deprotection.Oncogene · 2016Article
- Potential relationship between inadequate response to DNA damage and development of myelodysplastic syndrome.International journal of molecular sciences · 2015Review
- Peripheral blood lymphocyte telomere length as a predictor of response to immunosuppressive therapy in childhood aplastic anemia.Haematologica · 2014Article
- Pneumococcal vaccine failure: can it be a primary immunodeficiency?BMJ case reports · 2014Article
- Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere length measurement in humans.PloS one · 2014Article
- The diagnosis and treatment of dyskeratosis congenita: a review.Journal of blood medicine · 2014Review
- Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure.Bone marrow transplantation · 2013Article
- Interstitial lung disease in a patient with dyskeratosis congenita.Tuberculosis and respiratory diseases · 2013Article
- Dyskeratosis congenita: a report of two cases.Case reports in dentistry · 2013Article
- Telomere structure and telomerase in health and disease (review).International journal of oncology · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenita (DC) is an inherited disease associated with nail dystrophy, abnormal skin pigmentation, oral leukoplakia, bone marrow failure and a predisposition to cancer. DC is a disease of defective telomere maintenance and patients with DC have very short telomeres. To date, mutations in six genes of telomerase and telomere components have been identified in patients with DC. Recently, mutations in telomerase and telomere components were also identified in patients with aplastic anemia, pulmonary fibrosis, and liver diseases who did not have mucocutaneous manifestations. These findings imply that defective telomere maintenance may cause not only classical DC but also a broad spectrum of diseases previously thought to be idiopathic, and have led to a new concept of diseases, termed "syndromes of telomere shortening". An understanding of the role of telomeres in these diseases is indispensable for diagnosis, genetic counseling and clinical management.
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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.