"Dyskeratosis Congenita" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
| Descriptor ID |
D019871
|
| MeSH Number(s) |
C16.131.831.150 C16.320.322.108 C16.320.850.235 C17.800.804.150 C17.800.827.235
|
| Concept/Terms |
Zinsser-Cole-Engman Syndrome- Zinsser-Cole-Engman Syndrome
- Syndrome, Zinsser-Cole-Engman
- Zinsser Cole Engman Syndrome
- Dyskeratosis Congenita, X-Linked
- Congenita, X-Linked Dyskeratosis
- Dyskeratosis Congenita, X Linked
- X-Linked Dyskeratosis Congenita
- X-Linked Dyskeratosis Congenitas
|
Below are MeSH descriptors whose meaning is more general than "Dyskeratosis Congenita".
Below are MeSH descriptors whose meaning is more specific than "Dyskeratosis Congenita".
This graph shows the total number of publications written about "Dyskeratosis Congenita" by people in this website by year, and whether "Dyskeratosis Congenita" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 0 | 1 | 1 |
| 2003 | 1 | 0 | 1 |
| 2011 | 2 | 1 | 3 |
| 2013 | 3 | 0 | 3 |
| 2015 | 0 | 1 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 1 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dyskeratosis Congenita" by people in Profiles.
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Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood. 2022 08 11; 140(6):608-618.
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Non-myeloablative umbilical cord blood transplantation for atypical dyskeratosis congenita. Pediatr Transplant. 2022 Mar; 26(2):e14157.
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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429.
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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes. Blood. 2018 09 20; 132(12):1349-1353.
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Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood Adv. 2018 06 12; 2(11):1243-1249.
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HuR regulates telomerase activity through TERC methylation. Nat Commun. 2018 06 07; 9(1):2213.
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The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion. Mol Cell Biol. 2018 06 15; 38(12).
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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1).
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Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2017 Oct; 140(4):1120-1129.e1.