Associated Papers
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis.
Michalski JE et al.
Journal of Inflammation Research, 2020
Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine.
Spagnolo P et al.
Journal of Medical Genetics, 2017
Identification of human TERT elements necessary for telomerase recruitment to telomeres.
Schmidt JC et al.
Elife, 2014
Genetic determinants of pulmonary fibrosis: evolving concepts.
Spagnolo P et al.
The Lancet. Respiratory Medicine, 2014
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
In silico discrimination of nsSNPs in hTERT gene by means of local DNA sequence context and regularity.
Doss CG et al.
Journal of Molecular Modeling, 2013
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
Alder JK et al.
Plos Genetics, 2011
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.
Robart AR et al.
The Journal of Biological Chemistry, 2010
Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.
Hills M et al.
Annals of the New York Academy of Sciences, 2009
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Telomerase mutations in families with idiopathic pulmonary fibrosis.
Armanios MY et al.
The New England Journal of Medicine, 2007
Human diseases of telomerase dysfunction: insights into tissue aging.
Garcia CK et al.
Nucleic Acids Research, 2007
In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.
Khan IA et al.
In Silico Biology, 2006