Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Authors
Keywords
-
Journal
NATURE GENETICS
Volume 47, Issue 5, Pages 512-517
Publisher
Springer Nature
Online
2015-04-08
DOI
10.1038/ng.3278
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia
- (2015) Joy D. Cogan et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia
- (2014) Jonathan A. Kropski et al. CHEST
- Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation
- (2014) Bridget D Stuart et al. Lancet Respiratory Medicine
- Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
- (2013) Amanda J. Walne et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An Official American Thoracic Society/European Respiratory Society Statement: Update of the International Multidisciplinary Classification of the Idiopathic Interstitial Pneumonias
- (2013) William D. Travis et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- 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
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
- (2013) Tasha E Fingerlin et al. NATURE GENETICS
- 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
- Poly(A)-Specific Ribonuclease Mediates 3′-End Trimming of Argonaute2-Cleaved Precursor MicroRNAs
- (2013) Mayuko Yoda et al. Cell Reports
- 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
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity
- (2012) Jean-Baptiste Vannier et al. CELL
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming
- (2012) H. Berndt et al. RNA
- A Fast, Powerful Method for Detecting Identity by Descent
- (2011) Brian L. Browning et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis: Evidence-based Guidelines for Diagnosis and Management
- (2011) Ganesh Raghu et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita
- (2011) E. M. Parry et al. JOURNAL OF MEDICAL GENETICS
- Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
- (2011) Dan Levy et al. NEURON
- 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
- 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
- Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
- (2008) T. Vulliamy et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now