Associated Papers
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.
Vece TJ et al.
The Journal of Pediatrics, 2012
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.
Robart AR et al.
The Journal of Biological Chemistry, 2010
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
[Dyskeratosis congenita, a disease caused by defective telomere maintenance].
Hoareau-Aveilla C et al.
Medecine Sciences : M/s, 2008
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.
de la Fuente J et al.
Pediatric Transplantation, 2007
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin ZT et al.
Blood, 2007
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A et al.
Expert Reviews in Molecular Medicine, 2004
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.
Marrone A et al.
Blood, 2004
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