 Dyskeratosis Congenita
"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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2023 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Dyskeratosis Congenita" by people in Profiles.
-
Huynh TN, Parker R. The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation. J Biol Chem. 2023 09; 299(9):105139.
-
Shukla S, Jeong HC, Sturgeon CM, Parker R, Batista LFZ. Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita. Blood Adv. 2020 06 23; 4(12):2717-2722.
-
Fok WC, Shukla S, Vessoni AT, Brenner KA, Parker R, Sturgeon CM, Batista LFZ. Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita. Blood. 2019 03 21; 133(12):1308-1312.
-
Shukla S, Parker R. PARN Modulates Y RNA Stability and Its 3'-End Formation. Mol Cell Biol. 2017 Oct 15; 37(20).
-
Shukla S, Parker R. Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes. Trends Mol Med. 2016 07; 22(7):615-628.
-
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. Pediatr Neurol. 2016 Mar; 56:62-68.e1.
-
Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE. Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature. 2011 May 22; 474(7351):399-402.
-
Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP, Tolar J. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant. 2011 Jan; 46(1):98-104.
-
Ren X, Gavory G, Li H, Ying L, Klenerman D, Balasubramanian S. Identification of a new RNA.RNA interaction site for human telomerase RNA (hTR): structural implications for hTR accumulation and a dyskeratosis congenita point mutation. Nucleic Acids Res. 2003 Nov 15; 31(22):6509-15.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|