Pulmonary fibrosis in the era of stratified medicine

GermlineSFTPA1mutation in familial idiopathic interstitial pneumonia and lung cancer

(2016) Nadia Nathan et al.   HUMAN MOLECULAR GENETICS

Association Between Interstitial Lung Abnormalities and All-Cause Mortality

(2016) Rachel K. Putman et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy

(2015) Arie Hawkins et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia

(2015) Joy D. Cogan et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

TOLLIP,MUC5B, and the Response toN-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis

(2015) Justin M. Oldham et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

SFTPA2Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia

(2015) Coline H. M. van Moorsel et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Diseases of Pulmonary Surfactant Homeostasis

(2015) Jeffrey A. Whitsett et al.   Annual Review of Pathology-Mechanisms of Disease

Incorporating genetics into the identification and treatment of Idiopathic Pulmonary Fibrosis

(2015) Susan K. Mathai et al.   BMC Medicine

The MUC5B Promoter Polymorphism Is Associated With Idiopathic Pulmonary Fibrosis in a Mexican Cohort but Is Rare Among Asian Ancestries

(2015) Anna L. Peljto et al.   CHEST

Short Telomeres, Telomeropathy, and Subclinical Extrapulmonary Organ Damage in Patients With Interstitial Lung Disease

(2015) Gautam George et al.   CHEST

Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

(2015) Jonathan K. Alder et al.   CHEST

The short and long telomere syndromes: paired paradigms for molecular medicine

(2015) Susan E Stanley et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis

(2015) Caroline Kannengiesser et al.   EUROPEAN RESPIRATORY JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

(2015) Michael J. Ackerman   HEART RHYTHM

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

(2015) Hemanth Tummala et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical outcomes of lung transplant recipients with telomerase mutations

(2015) Sofya Tokman et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Severe hematologic complications after lung transplantation in patients with telomerase complex mutations

(2015) Raphael Borie et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

(2015) Santhosh Dhanraj et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

(2015) Bridget D Stuart et al.   NATURE GENETICS

Poly(A)-specific ribonuclease (PARN) mediates 3′-end maturation of the telomerase RNA component

(2015) Diane H Moon et al.   NATURE GENETICS

MUC5Bpromoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis

(2015) Yasushi Horimasu et al.   RESPIROLOGY

Association between telomere length and survival in patients with idiopathic pulmonary fibrosis

(2015) Jinghong Dai et al.   RESPIROLOGY

Epigenetics of idiopathic pulmonary fibrosis

(2015) Ivana V. Yang et al.   Translational Research

Genetics and Early Detection in Idiopathic Pulmonary Fibrosis

(2014) Rachel K. Putman 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

Genetic susceptibility and pulmonary fibrosis

(2014) Susan K. Mathai et al.   CURRENT OPINION IN PULMONARY MEDICINE

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

(2014) L. L. Silhan et al.   EUROPEAN RESPIRATORY JOURNAL

Telomerase mutations in smokers with severe emphysema

(2014) Susan E. Stanley et al.   JOURNAL OF CLINICAL INVESTIGATION

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A Phase 3 Trial of Pirfenidone in Patients with Idiopathic Pulmonary Fibrosis

(2014) Talmadge E. King et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy and Safety of Nintedanib in Idiopathic Pulmonary Fibrosis

(2014) Luca Richeldi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mucin 5B Promoter Polymorphism Is Associated with Susceptibility to Interstitial Lung Diseases in Chinese Males

(2014) Chunli Wang et al.   PLoS One

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

(2014) Ilaria Campo et al.   RESPIRATORY RESEARCH

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

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

(2013) Mireille Claustres et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Association Between the MUC5B Promoter Polymorphism and Survival in Patients With Idiopathic Pulmonary Fibrosis

(2013) Anna L. Peljto et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Muc5b is required for airway defence

(2013) Michelle G. Roy et al.   NATURE

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

(2013) Tasha E Fingerlin et al.   NATURE GENETICS

MUC5B Promoter Polymorphism and Interstitial Lung Abnormalities

(2013) Gary M. Hunninghake et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Idiopathic Pulmonary Fibrosis Honeycomb Cyst Contains A Mucocilary Pseudostratified Epithelium

(2013) Max A. Seibold et al.   PLoS One

The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

(2013) Raphael Borie et al.   PLoS One

Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis

(2013) Carmel J Stock et al.   THORAX

Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes

(2013) Rongrong Wei et al.   Translational Research

Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study

(2013) Imre Noth et al.   Lancet Respiratory Medicine

Epidemiology of idiopathic pulmonary fibrosis

(2013) Brett Ley et al.   Clinical Epidemiology

Emerging evidence for endoplasmic reticulum stress in the pathogenesis of idiopathic pulmonary fibrosis

(2012) Harikrishna Tanjore et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

(2012) J. A. Kropski et al.   Disease Models & Mechanisms

Prednisone, Azathioprine, andN-Acetylcysteine for Pulmonary Fibrosis

(2012)   NEW ENGLAND JOURNAL OF MEDICINE

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features

(2012) Bridget A Fernandez et al.   RESPIRATORY RESEARCH

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

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

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

(2011) E. M. Parry et al.   BLOOD

Subclinical Lung Disease, Macrocytosis, and Premature Graying in Kindreds With Telomerase ( TERT ) Mutations

(2011) Alberto Diaz de Leon et al.   CHEST

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred

(2011) S. Ono et al.   EUROPEAN RESPIRATORY JOURNAL

Telomerase and idiopathic pulmonary fibrosis

(2011) Mary Armanios   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

A Variant in the Promoter ofMUC5Band Idiopathic Pulmonary Fibrosis

(2011) Yingze Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

A CommonMUC5BPromoter Polymorphism and Pulmonary Fibrosis

(2011) Max A. Seibold et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis

(2011) Jonathan K. Alder et al.   PLoS Genetics

Surfactant Protein C Mutations Are the Basis of a Significant Portion of Adult Familial Pulmonary Fibrosis in a Dutch Cohort

(2010) Coline H. M. van Moorsel et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Alveolar Surfactant Homeostasis and the Pathogenesis of Pulmonary Disease

(2010) Jeffrey A. Whitsett et al.   Annual Review of Medicine

Natural History of Pulmonary Fibrosis in Two Subjects With the Same Telomerase Mutation

(2010) Souheil El-Chemaly et al.   CHEST

Surfactant Protein A2 Mutations Associated with Pulmonary Fibrosis Lead to Protein Instability and Endoplasmic Reticulum Stress

(2010) Meenakshi Maitra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia

(2010) Anna Aspesi et al.   PEDIATRIC BLOOD & CANCER

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

(2010) Alberto Diaz de Leon et al.   PLoS One

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Familial interstitial disease with I73T mutation: A mid- and long-term study

(2009) Rola Abou Taam et al.   PEDIATRIC PULMONOLOGY

Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer

(2008) Yongyu Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection

(2008) William E. Lawson et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Epithelial Endoplasmic Reticulum Stress and Apoptosis in Sporadic Idiopathic Pulmonary Fibrosis

(2008) Martina Korfei et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

(2008) Jennifer T. Cronkhite et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

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

Clinical, radiological and pathological features of ABCA3 mutations in children

(2007) M L Doan et al.   THORAX