A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia - Test2 - elhamkhani - TriplyDB

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

http://www.wikidata.org/entity/Q28307444

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Candidate genes of idiopathic pulmonary fibrosis: current evidence and research Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs The short and long telomere syndromes: paired paradigms for molecular medicine Genetic susceptibility and pulmonary fibrosis Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.Telomere-regulating genes and the telomere interactome in familial cancers.Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease.Rare variants in RTEL1 are associated with familial interstitial pneumonia Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.Conditional Knockout of Telomerase Reverse Transcriptase in Mesenchymal Cells Impairs Mouse Pulmonary Fibrosis.TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis.The molecular genetics of the telomere biology disorders.Facts and promises on lung biomarkers in interstitial lung diseases.Pulmonary fibrosis in the era of stratified medicine.Tissue remodelling in pulmonary fibrosis.The MUC5B promoter polymorphism and telomere length in patients with chronic hypersensitivity pneumonitis: an observational cohort-control study.The genetic basis of idiopathic pulmonary fibrosis Genetics in Idiopathic Pulmonary Fibrosis Pathogenesis, Prognosis, and Treatment.Telomeres revisited: RTEL1 variants in pulmonary fibrosis.Insights from human genetic studies of lung and organ fibrosis.Emerging therapies for idiopathic pulmonary fibrosis, a progressive age-related disease.Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families.Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.Short telomere length in IPF lung associates with fibrotic lesions and predicts survival.The Immunome in Two Inherited Forms of Pulmonary Fibrosis.Time for a change: is idiopathic pulmonary fibrosis still idiopathic and only fibrotic?Idiopathic pulmonary fibrosis: Epithelial-mesenchymal interactions and emerging therapeutic targets.Clinical Genetics in Interstitial Lung Disease.Emerging therapies for idiopathic pulmonary fibrosis, a progressive age-related disease.Turning Uridines around: Role of rRNA Pseudouridylation in Ribosome Biogenesis and Ribosomal Function.Idiopathic Pulmonary Fibrosis (IPF): An Overview

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P2860

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

http://www.wikidata.org/entity/Q28307444

description

2014 nî lūn-bûn

@nan

2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հուլիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@ast

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@en

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@nl

type

label

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@ast

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@en

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@nl

prefLabel

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@ast

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@en

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

@nl

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A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

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Cheryl Markin

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Daphne B Mitchell

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James E Loyd

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John A Phillips

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Joy D Cogan

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Joyce E Johnson

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Leena Choi

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Timothy S Blackwell

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Vasiliy V Polosukhin

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William E Lawson

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P2860

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

The genetics of dyskeratosis congenita

The telomere syndromes

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

A mutation in the surfactant protein C gene associated with familial interstitial lung disease

Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis

SIFT: Predicting amino acid changes that affect protein function

Telomerase mutations in families with idiopathic pulmonary fibrosis

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

Telomerase deficiency does not alter bleomycin-induced fibrosis in mice

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10.1378/CHEST.13-2224

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1

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Jonathan Andrew Kropski

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2014-07-01T00:00:00Z

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