407 related articles for article (PubMed ID: 30995915)
1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG; Galvez E; Planas-Cerezales L; Pintado-Berninches L; Vallespin E; Martinez P; Carrillo J; Iarriccio L; Ruiz-Llobet A; Catalá A; Badell-Serra I; Gonzalez-Granado LI; Martín-Nalda A; Martínez-Gallo M; Galera-Miñarro A; Rodríguez-Vigil C; Bastos-Oreiro M; Perez de Nanclares G; Leiro-Fernández V; Uria ML; Diaz-Heredia C; Valenzuela C; Martín S; López-Muñiz B; Lapunzina P; Sevilla J; Molina-Molina M; Perona R; Sastre L
Orphanet J Rare Dis; 2019 Apr; 14(1):82. PubMed ID: 30995915
[TBL] [Abstract][Full Text] [Related]
2. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
Marrone A; Sokhal P; Walne A; Beswick R; Kirwan M; Killick S; Williams M; Marsh J; Vulliamy T; Dokal I
Haematologica; 2007 Aug; 92(8):1013-20. PubMed ID: 17640862
[TBL] [Abstract][Full Text] [Related]
3. Molecular mechanisms of telomere biology disorders.
Grill S; Nandakumar J
J Biol Chem; 2021; 296():100064. PubMed ID: 33482595
[TBL] [Abstract][Full Text] [Related]
4. Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A; Rosén A; Raaschou-Jensen K; Kjeldsen L; Moilanen JS; Paulsson-Karlsson Y; Baliakas P; Lohi O; Ahmed A; Kittang AO; Larsson P; Roos G; Degerman S; Hultdin M
Eur J Hum Genet; 2018 Jun; 26(6):858-867. PubMed ID: 29483670
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
Fernández-Varas B; Manguan-García C; Rodriguez-Centeno J; Mendoza-Lupiáñez L; Calatayud J; Perona R; Martín-Martínez M; Gutierrez-Rodriguez M; Benítez-Buelga C; Sastre L
Hum Mol Genet; 2024 Apr; 33(9):818-834. PubMed ID: 38641551
[TBL] [Abstract][Full Text] [Related]
7. Bone marrow failure and the new telomere diseases: practice and research.
Young NS
Hematology; 2012 Apr; 17 Suppl 1():S18-21. PubMed ID: 22507770
[TBL] [Abstract][Full Text] [Related]
8. Telomeres and marrow failure.
Calado RT
Hematology Am Soc Hematol Educ Program; 2009; ():338-43. PubMed ID: 20008219
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Vulliamy TJ; Walne A; Baskaradas A; Mason PJ; Marrone A; Dokal I
Blood Cells Mol Dis; 2005; 34(3):257-63. PubMed ID: 15885610
[TBL] [Abstract][Full Text] [Related]
10. Human telomere disease due to disruption of the CCAAT box of the TERC promoter.
Aalbers AM; Kajigaya S; van den Heuvel-Eibrink MM; van der Velden VH; Calado RT; Young NS
Blood; 2012 Mar; 119(13):3060-3. PubMed ID: 22323451
[TBL] [Abstract][Full Text] [Related]
11. The effect of TERC haploinsufficiency on the inheritance of telomere length.
Goldman F; Bouarich R; Kulkarni S; Freeman S; Du HY; Harrington L; Mason PJ; Londoño-Vallejo A; Bessler M
Proc Natl Acad Sci U S A; 2005 Nov; 102(47):17119-24. PubMed ID: 16284252
[TBL] [Abstract][Full Text] [Related]
12. The molecular genetics of the telomere biology disorders.
Bertuch AA
RNA Biol; 2016 Aug; 13(8):696-706. PubMed ID: 26400640
[TBL] [Abstract][Full Text] [Related]
13. A spectrum of severe familial liver disorders associate with telomerase mutations.
Calado RT; Regal JA; Kleiner DE; Schrump DS; Peterson NR; Pons V; Chanock SJ; Lansdorp PM; Young NS
PLoS One; 2009 Nov; 4(11):e7926. PubMed ID: 19936245
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
Parry EM; Alder JK; Lee SS; Phillips JA; Loyd JE; Duggal P; Armanios M
J Med Genet; 2011 May; 48(5):327-33. PubMed ID: 21415081
[TBL] [Abstract][Full Text] [Related]
16. Telomerase mutations in families with idiopathic pulmonary fibrosis.
Armanios MY; Chen JJ; Cogan JD; Alder JK; Ingersoll RG; Markin C; Lawson WE; Xie M; Vulto I; Phillips JA; Lansdorp PM; Greider CW; Loyd JE
N Engl J Med; 2007 Mar; 356(13):1317-26. PubMed ID: 17392301
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Telomere shortening in human diseases.
Kong CM; Lee XW; Wang X
FEBS J; 2013 Jul; 280(14):3180-93. PubMed ID: 23647631
[TBL] [Abstract][Full Text] [Related]
19. Syndromes of telomere shortening.
Armanios M
Annu Rev Genomics Hum Genet; 2009; 10():45-61. PubMed ID: 19405848
[TBL] [Abstract][Full Text] [Related]
20. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Vulliamy T; Marrone A; Szydlo R; Walne A; Mason PJ; Dokal I
Nat Genet; 2004 May; 36(5):447-9. PubMed ID: 15098033
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]