ArticleBlood2012
Human telomere disease due to disruption of the CCAAT box of the TERC promoter.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00071045 (Collection of Blood, Bone Marrow, Urine, and/or Tissue Samples From Patients With Solid Tumors, Hematological Malignancies or Non-Malignant Hematologic Disorders or HLA Compatible Family Members), which is not on this map. Cited by 14 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.
Collection of Blood, Bone Marrow, Urine, and/or Tissue Samples From Patients With Solid Tumors, Hematological Malignancies or Non-Malignant Hematologic Disorders or HLA Compatible Family Members
Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Article
- TERC haploid cell reprogramming: a novel therapeutic strategy for aplastic anemia.Molecular medicine (Cambridge, Mass.) · 2023Review
- Review
- Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges.Journal of cellular physiology · 2021Article
- Transplantation of a Novel Recombinant Adeno-Associated Virus (pAAV-HE1B19K-TE1A) Demonstrates Higher Anti-Tumor Effects in Tumor Cells.Annals of transplantation · 2020Article
- Telomerase RNA processing: Implications for human health and disease.Stem cells (Dayton, Ohio) · 2020Review
- Decrypting the crosstalk of noncoding RNAs in the progression of IPF.Molecular biology reports · 2020Review
- Aplastic Anemia.The New England journal of medicine · 2018Review
- Beginning at the ends: telomeres and human disease.F1000Research · 2018Review
- A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding.Blood · 2016Article
- The code of non-coding RNAs in lung fibrosis.Cellular and molecular life sciences : CMLS · 2015Review
- Bone marrow failure and the telomeropathies.Blood · 2014Review
- Article
- Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs.The Journal of clinical investigation · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
Mutations in the coding region of telomerase complex genes can result in accelerated telomere attrition and human disease. Manifestations of telomere disease include the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloid leukemia, liver cirrhosis, and pulmonary fibrosis. Here, we describe a mutation in the CCAAT box (GCAAT) of the TERC gene promoter in a family in which multiple members had typical features of telomeropathy. The genetic alteration in this critical regulatory sequence resulted in reduced reporter gene activity and absent binding of transcription factor NF-Y, likely responsible for reduced TERC levels, decreased telomerase activity, and short telomeres. This is the first description of a pathogenic mutation in the highly conserved CCAAT box and the first instance of a mutation in the promoter region of TERC producing a telomeropathy. We propose that current mutation-screening strategies should include gene promoter regions for the diagnosis of telomere diseases. This clinical trial was registered at www.clinicaltrials.gov as #NCT00071045.
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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.