266 related articles for article (PubMed ID: 32554502)
1. Pseudouridylation defect due to
Balogh E; Chandler JC; Varga M; Tahoun M; Menyhárd DK; Schay G; Goncalves T; Hamar R; Légrádi R; Szekeres Á; Gribouval O; Kleta R; Stanescu H; Bockenhauer D; Kerti A; Williams H; Kinsler V; Di WL; Curtis D; Kolatsi-Joannou M; Hammid H; Szőcs A; Perczel K; Maka E; Toldi G; Sava F; Arrondel C; Kardos M; Fintha A; Hossain A; D'Arco F; Kaliakatsos M; Koeglmeier J; Mifsud W; Moosajee M; Faro A; Jávorszky E; Rudas G; Saied MH; Marzouk S; Kelen K; Götze J; Reusz G; Tulassay T; Dragon F; Mollet G; Motameny S; Thiele H; Dorval G; Nürnberg P; Perczel A; Szabó AJ; Long DA; Tomita K; Antignac C; Waters AM; Tory K
Proc Natl Acad Sci U S A; 2020 Jun; 117(26):15137-15147. PubMed ID: 32554502
[TBL] [Abstract][Full Text] [Related]
2. Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening.
Ibáñez-Cabellos JS; Pérez-Machado G; Seco-Cervera M; Berenguer-Pascual E; García-Giménez JL; Pallardó FV
Redox Biol; 2018 Apr; 14():398-408. PubMed ID: 29055871
[TBL] [Abstract][Full Text] [Related]
3. Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.
Rashid R; Liang B; Baker DL; Youssef OA; He Y; Phipps K; Terns RM; Terns MP; Li H
Mol Cell; 2006 Jan; 21(2):249-60. PubMed ID: 16427014
[TBL] [Abstract][Full Text] [Related]
4. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Vulliamy T; Beswick R; Kirwan M; Marrone A; Digweed M; Walne A; Dokal I
Proc Natl Acad Sci U S A; 2008 Jun; 105(23):8073-8. PubMed ID: 18523010
[TBL] [Abstract][Full Text] [Related]
5. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Walne AJ; Vulliamy T; Marrone A; Beswick R; Kirwan M; Masunari Y; Al-Qurashi FH; Aljurf M; Dokal I
Hum Mol Genet; 2007 Jul; 16(13):1619-29. PubMed ID: 17507419
[TBL] [Abstract][Full Text] [Related]
6. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
Trahan C; Martel C; Dragon F
Hum Mol Genet; 2010 Mar; 19(5):825-36. PubMed ID: 20008900
[TBL] [Abstract][Full Text] [Related]
7. Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
Ibáñez-Cabellos JS; Seco-Cervera M; Picher-Latorre C; Pérez-Machado G; García-Giménez JL; Pallardó FV
Biochim Biophys Acta Mol Cell Res; 2020 Dec; 1867(12):118845. PubMed ID: 32910990
[TBL] [Abstract][Full Text] [Related]
8. Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.
Thumati NR; Zeng XL; Au HH; Jang CJ; Jan E; Wong JM
Hum Mutat; 2013 Dec; 34(12):1698-707. PubMed ID: 24115260
[TBL] [Abstract][Full Text] [Related]
9. Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.
Gu BW; Apicella M; Mills J; Fan JM; Reeves DA; French D; Podsakoff GM; Bessler M; Mason PJ
PLoS One; 2015; 10(5):e0127414. PubMed ID: 25992652
[TBL] [Abstract][Full Text] [Related]
10. Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.
Garus A; Autexier C
RNA; 2021 Dec; 27(12):1441-1458. PubMed ID: 34556550
[TBL] [Abstract][Full Text] [Related]
11. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing.
Mochizuki Y; He J; Kulkarni S; Bessler M; Mason PJ
Proc Natl Acad Sci U S A; 2004 Jul; 101(29):10756-61. PubMed ID: 15240872
[TBL] [Abstract][Full Text] [Related]
12. Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia.
Dos Santos PC; Panero J; Stanganelli C; Palau Nagore V; Stella F; Bezares R; Slavutsky I
PLoS One; 2017; 12(6):e0179883. PubMed ID: 28666010
[TBL] [Abstract][Full Text] [Related]
13. Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing.
Zhang Y; Morimoto K; Danilova N; Zhang B; Lin S
PLoS One; 2012; 7(1):e30188. PubMed ID: 22299032
[TBL] [Abstract][Full Text] [Related]
14. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ; Dokal I
Biochimie; 2008 Jan; 90(1):122-30. PubMed ID: 17825470
[TBL] [Abstract][Full Text] [Related]
15. Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP.
Trahan C; Dragon F
RNA; 2009 Feb; 15(2):235-43. PubMed ID: 19095616
[TBL] [Abstract][Full Text] [Related]
16. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.
Ruggero D; Grisendi S; Piazza F; Rego E; Mari F; Rao PH; Cordon-Cardo C; Pandolfi PP
Science; 2003 Jan; 299(5604):259-62. PubMed ID: 12522253
[TBL] [Abstract][Full Text] [Related]
17. Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
Xu J; Khincha PP; Giri N; Alter BP; Savage SA; Wong JM
Am J Hematol; 2016 Dec; 91(12):1215-1220. PubMed ID: 27570172
[TBL] [Abstract][Full Text] [Related]
18. Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ; Marrone A; Dokal I
Int J Hematol; 2005 Oct; 82(3):184-9. PubMed ID: 16207588
[TBL] [Abstract][Full Text] [Related]
19. Advances in the understanding of dyskeratosis congenita.
Walne AJ; Dokal I
Br J Haematol; 2009 Apr; 145(2):164-72. PubMed ID: 19208095
[TBL] [Abstract][Full Text] [Related]
20. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A; Dokal I
Expert Rev Mol Med; 2004 Dec; 6(26):1-23. PubMed ID: 15613268
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]