标题
Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia
作者
关键词
-
出版物
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Volume 191, Issue 6, Pages 646-655
出版商
American Thoracic Society
发表日期
2015-01-22
DOI
10.1164/rccm.201408-1510oc
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia
- (2014) Jonathan A. Kropski et al. CHEST
- RTEL1: functions of a disease-associated helicase
- (2014) Jean-Baptiste Vannier et al. TRENDS IN CELL BIOLOGY
- Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
- (2013) Amanda J. Walne et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Early Hits and Long-Term Consequences: Tracking the Lasting Impact of Prenatal Smoke Exposure on Telomere Length in Children
- (2013) Katherine P. Theall et al. AMERICAN JOURNAL OF PUBLIC HEALTH
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
- (2013) Bari J. Ballew et al. HUMAN GENETICS
- Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability
- (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
- (2012) Jean-Baptiste Vannier et al. CELL
- Detecting false-positive signals in exome sequencing
- (2012) Karin V. Fuentes Fajardo et al. HUMAN MUTATION
- Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
- (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
- (2010) Alberto Diaz de Leon et al. PLoS One
- Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer
- (2008) Yongyu Wang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis
- (2008) Jennifer T. Cronkhite et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- RTEL1 Maintains Genomic Stability by Suppressing Homologous Recombination
- (2008) Louise J. Barber et al. CELL
- 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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