ArticleInternal medicine (Tokyo, Japan)2025
Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes.
Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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.
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
3 citing papers in PubMed.
- DKC1 promotes colorectal cancer progression and therapy resistance by dysregulating sphingolipid biosynthesis.Nature communications · 2026Article
- Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable?Multidisciplinary respiratory medicine · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenita (DC) is a rare genetic disorder that is caused by abnormal telomere shortening. We herein report the case of a 40-year-old man with classic DC characterized by a mucocutaneous triad complicated by pulmonary fibrosis and myelodysplastic syndrome (MDS). The telomere length of lymphocytes was extremely short (-3.3 standard deviations). We identified the germline mutation c.C91A in DKC1 gene. We also identified a somatic mutation c.C101T in the U2AF1 gene of leukocytes, which may be associated with MDS development. Nintedanib was started, but the patient died of bilateral pneumothorax 6 months after diagnosis.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.