Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia
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Title
Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia
Authors
Keywords
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Journal
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Volume 191, Issue 6, Pages 646-655
Publisher
American Thoracic Society
Online
2015-01-22
DOI
10.1164/rccm.201408-1510oc
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- (2013) Tangui Le Guen et al. HUMAN MOLECULAR GENETICS
- Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1 ) Gene
- (2013) Jonathan K. Alder et al. HUMAN MUTATION
- Identification of seven loci affecting mean telomere length and their association with disease
- (2013) Veryan Codd et al. NATURE GENETICS
- Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
- (2013) Tasha E Fingerlin et al. NATURE GENETICS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome
- (2013) Zhong Deng et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- RTEL1 Is a Replisome-Associated Helicase That Promotes Telomere and Genome-Wide Replication
- (2013) J.-B. Vannier et al. SCIENCE
- Telomere biology and translational research
- (2013) Philip J. Mason et al. Translational Research
- A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
- (2013) Bari J. Ballew et al. PLoS Genetics
- Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study
- (2013) Imre Noth et al. Lancet Respiratory Medicine
- The gastrointestinal manifestations of telomere-mediated disease
- (2012) Naudia L. Jonassaint et al. AGING CELL
- RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity
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- (2012) Bahareh Rabbani et al. JOURNAL OF HUMAN GENETICS
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- Idiopathic pulmonary fibrosis
- (2011) Talmadge E King et al. LANCET
- Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis
- (2011) Cecilia García-Sancho et al. RESPIRATORY MEDICINE
- Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations
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- RTEL1 Maintains Genomic Stability by Suppressing Homologous Recombination
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- Short telomeres are a risk factor for idiopathic pulmonary fibrosis
- (2008) J. K. Alder et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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