Associated Papers
Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.
Sürücü Kara İ et al.
Molecular Syndromology, 2025
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M et al.
Human Molecular Genetics, 2020
Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association.
Erdem M et al.
Acta Haematologica, 2019
Dyskeratosis congenita as a disorder of telomere maintenance.
Nelson ND et al.
Mutation Research, 2012
Structure of H/ACA RNP protein Nhp2p reveals cis/trans isomerization of a conserved proline at the RNA and Nop10 binding interface.
Koo BK et al.
Journal of Molecular Biology, 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
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Vulliamy T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
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