249 related articles for article (PubMed ID: 22899577)
1. Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Walne AJ; Bhagat T; Kirwan M; Gitiaux C; Desguerre I; Leonard N; Nogales E; Vulliamy T; Dokal IS
Haematologica; 2013 Mar; 98(3):334-8. PubMed ID: 22899577
[TBL] [Abstract][Full Text] [Related]
2. CTC1 Mutations in a patient with dyskeratosis congenita.
Keller RB; Gagne KE; Usmani GN; Asdourian GK; Williams DA; Hofmann I; Agarwal S
Pediatr Blood Cancer; 2012 Aug; 59(2):311-4. PubMed ID: 22532422
[TBL] [Abstract][Full Text] [Related]
3. Molecular basis of telomere syndrome caused by CTC1 mutations.
Chen LY; Majerská J; Lingner J
Genes Dev; 2013 Oct; 27(19):2099-108. PubMed ID: 24115768
[TBL] [Abstract][Full Text] [Related]
4. Telomere length in inherited bone marrow failure syndromes.
Alter BP; Giri N; Savage SA; Rosenberg PS
Haematologica; 2015 Jan; 100(1):49-54. PubMed ID: 25304614
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous
Marsh JCW; Gutierrez-Rodrigues F; Cooper J; Jiang J; Gandhi S; Kajigaya S; Feng X; Ibanez MDPF; Donaires FS; Lopes da Silva JP; Li Z; Das S; Ibanez M; Smith AE; Lea N; Best S; Ireland R; Kulasekararaj AG; McLornan DP; Pagliuca A; Callebaut I; Young NS; Calado RT; Townsley DM; Mufti GJ
Blood Adv; 2018 Jan; 2(1):36-48. PubMed ID: 29344583
[TBL] [Abstract][Full Text] [Related]
6. Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.
Agarwal S
Hematol Oncol Clin North Am; 2018 Aug; 32(4):669-685. PubMed ID: 30047419
[TBL] [Abstract][Full Text] [Related]
7. Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G; Lopes F; Gauthier J; Saillour V; Nassif C; Wynn R; Alos N; Leblanc T; Capri Y; Nizard S; Lemyre E; Michaud JL; Pelletier VA; Pastore YD; Soucy JF
Clin Genet; 2018 Aug; 94(2):252-258. PubMed ID: 29700810
[TBL] [Abstract][Full Text] [Related]
8. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
Gramatges MM; Bertuch AA
Transl Res; 2013 Dec; 162(6):353-63. PubMed ID: 23732052
[TBL] [Abstract][Full Text] [Related]
9. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
Blood; 2008 Nov; 112(9):3594-600. PubMed ID: 18669893
[TBL] [Abstract][Full Text] [Related]
10. Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes.
Hoffman H; Rice C; Skordalakes E
J Biol Chem; 2017 Mar; 292(11):4593-4601. PubMed ID: 28154186
[TBL] [Abstract][Full Text] [Related]
11. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
Gu P; Chang S
Aging Cell; 2013 Dec; 12(6):1100-9. PubMed ID: 23869908
[TBL] [Abstract][Full Text] [Related]
12. The shelterin complex and hematopoiesis.
Jones M; Bisht K; Savage SA; Nandakumar J; Keegan CE; Maillard I
J Clin Invest; 2016 May; 126(5):1621-9. PubMed ID: 27135879
[TBL] [Abstract][Full Text] [Related]
13. Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.
Beier F; Foronda M; Martinez P; Blasco MA
Blood; 2012 Oct; 120(15):2990-3000. PubMed ID: 22932806
[TBL] [Abstract][Full Text] [Related]
14. Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Shen W; Kerr CM; Przychozen B; Mahfouz RZ; LaFramboise T; Nagata Y; Hanna R; Radivoyevitch T; Nazha A; Sekeres MA; Maciejewski JP
Br J Haematol; 2019 Jun; 185(5):935-939. PubMed ID: 30891747
[TBL] [Abstract][Full Text] [Related]
15. Recent progress in dyskeratosis congenita.
Nishio N; Kojima S
Int J Hematol; 2010 Oct; 92(3):419-24. PubMed ID: 20882440
[TBL] [Abstract][Full Text] [Related]
16. p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita.
Fok WC; Niero ELO; Dege C; Brenner KA; Sturgeon CM; Batista LFZ
Stem Cell Reports; 2017 Aug; 9(2):409-418. PubMed ID: 28757166
[TBL] [Abstract][Full Text] [Related]
17. A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
Han E; Patel NA; Yannuzzi NA; Laura DM; Fan KC; Negron CI; Prakhunhungsit S; Thorson WL; Berrocal AM
Ophthalmic Genet; 2020 Aug; 41(4):363-367. PubMed ID: 32543263
[TBL] [Abstract][Full Text] [Related]
18. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH; Kasher PR; Mayer J; Szynkiewicz M; Jenkinson EM; Bhaskar SS; Urquhart JE; Daly SB; Dickerson JE; O'Sullivan J; Leibundgut EO; Muter J; Abdel-Salem GM; Babul-Hirji R; Baxter P; Berger A; Bonafé L; Brunstom-Hernandez JE; Buckard JA; Chitayat D; Chong WK; Cordelli DM; Ferreira P; Fluss J; Forrest EH; Franzoni E; Garone C; Hammans SR; Houge G; Hughes I; Jacquemont S; Jeannet PY; Jefferson RJ; Kumar R; Kutschke G; Lundberg S; Lourenço CM; Mehta R; Naidu S; Nischal KK; Nunes L; Ounap K; Philippart M; Prabhakar P; Risen SR; Schiffmann R; Soh C; Stephenson JB; Stewart H; Stone J; Tolmie JL; van der Knaap MS; Vieira JP; Vilain CN; Wakeling EL; Wermenbol V; Whitney A; Lovell SC; Meyer S; Livingston JH; Baerlocher GM; Black GC; Rice GI; Crow YJ
Nat Genet; 2012 Jan; 44(3):338-42. PubMed ID: 22267198
[TBL] [Abstract][Full Text] [Related]
19. DNA methylation in PRDM8 is indicative for dyskeratosis congenita.
Weidner CI; Lin Q; Birkhofer C; Gerstenmaier U; Kaifie A; Kirschner M; Bruns H; Balabanov S; Trummer A; Stockklausner C; Höchsmann B; Schrezenmeier H; Wlodarski M; Panse J; Brümmendorf TH; Beier F; Wagner W
Oncotarget; 2016 Mar; 7(10):10765-72. PubMed ID: 26909595
[TBL] [Abstract][Full Text] [Related]
20. [Bone marrow failure syndrome (idiopathic hematopoietic disorders): progress in diagnosis and treatment. Topics: III. Diagnosis and treatments; 7. Congenital bone marrow failure syndrome].
Kojima S; Yabe M
Nihon Naika Gakkai Zasshi; 2012 Jul; 101(7):1977-85. PubMed ID: 22897002
[No Abstract] [Full Text] [Related]
[Next] [New Search]
