Associated Papers
Cryo-EM structure of human telomerase dimer reveals H/ACA RNP-mediated dimerization.
Balch S et al.
Science (new York, N.y.), 2025
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
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
2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein.
Ghanim GE et al.
Nature Communications, 2024
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H et al.
Expert Review of Hematology, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
First heterozygous NOP10 mutation in familial pulmonary fibrosis.
Kannengiesser C et al.
The European Respiratory Journal, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Dyskeratosis congenita as a disorder of telomere maintenance.
Nelson ND et al.
Mutation Research, 2012
A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization.
Pereboom TC et al.
Blood, 2011
Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
Trahan C et al.
Human Molecular Genetics, 2010
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
Nop10 is a conserved H/ACA snoRNP molecular adaptor.
Reichow SL et al.
Biochemistry, 2008
Dyskeratosis congenita: a genetic disorder of many faces.
Kirwan M et al.
Clinical Genetics, 2008
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Walne AJ et al.
Human Molecular Genetics, 2007
Human diseases of telomerase dysfunction: insights into tissue aging.
Garcia CK et al.
Nucleic Acids Research, 2007
Molecular mechanisms of telomere biology disorders.
Grill S et al.
The Journal of Biological Chemistry, 0