Associated Papers
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.
Alonso-González A et al.
The Lancet. Respiratory Medicine, 2025
40311650 (PubMed )
Supplement: mmc1.pdf
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease.
Wang CY et al.
Molecular Medicine (cambridge, Mass.), 2024
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Nitschke NJ et al.
Clinical Genetics, 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
A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.
Groen K et al.
Erj Open Research, 2024
Structural basis for RNA surveillance by the human nuclear exosome targeting (NEXT) complex.
Puno MR et al.
Cell, 2022
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
Gable DL et al.
Genes & Development, 2019
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