Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema
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Telomerase Regulation from Beginning to the EndThe genomics of inherited bone marrow failure: from mechanism to the clinic.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium InternatiGenetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.Pulmonary fibrosis in the era of stratified medicine.An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care.Telomerase Mechanism of Telomere Synthesis.Telomere-driven diseases and telomere-targeting therapies.Germline Genetic Predisposition to Hematologic Malignancy.Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.Genetics in Idiopathic Pulmonary Fibrosis Pathogenesis, Prognosis, and Treatment.Insights from human genetic studies of lung and organ fibrosis.Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.What do polymorphisms tell us about the mechanisms of COPD?The Genetic Diagnosis of Interstitial Lung Disease: A Need for an International Consensus.Diagnostic utility of telomere length testing in a hospital-based setting.Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.Idiopathic pulmonary fibrosis: Epithelial-mesenchymal interactions and emerging therapeutic targets.Clinical Genetics in Interstitial Lung Disease.Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.Beginning at the ends: telomeres and human disease.Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita
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P2860
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema
description
2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2016/08/10)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в серпні 2016
@uk
مقالة علمية (نشرت في 10-8-2016)
@ar
name
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@ast
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@en
type
label
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@ast
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@en
prefLabel
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@ast
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@en
P2093
P2860
P921
P3181
P1476
Loss-of-function mutations in ...... o pulmonary fibrosis-emphysema
@en
P2093
Amy E. DeZern
Carolyn D. Applegate
Christa L. Wagner
Dustin L. Gable
Erin M. Parry
Jonathan K. Alder
Joshua D. Podlevsky
Maria F. Rojas-Duran
Sara E. Khalil
Susan E. Stanley
P2860
P304
P3181
P356
10.1126/SCITRANSLMED.AAF7837
P407
P577
2016-08-10T00:00:00Z