Genetic disorders of the surfactant system: focus on adult disease

Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age

(2020) Xiaolei Tang et al.   Orphanet Journal of Rare Diseases

ABCA3 mutations in adult pulmonary fibrosis patients

(2020) Dymph Klay et al.   CURRENT OPINION IN PULMONARY MEDICINE

Genetic causes of surfactant protein abnormalities

(2019) Lawrence M. Nogee   CURRENT OPINION IN PEDIATRICS

A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)

(2019) Antonin Fattori et al.   CHEST

Club cells form lung adenocarcinomas and maintain the alveoli of adult mice

(2019) Magda Spella et al.   eLife

Potentiation of ABCA3 lipid transport function by ivacaftor and genistein

(2019) Susanna Kinting et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

The genetics of interstitial lung diseases

(2019) Raphael Borie et al.   European Respiratory Review

A homozygous SFTPA1 mutation drives necroptosis of type II alveolar epithelial cells in patients with idiopathic pulmonary fibrosis

(2019) Akio Takezaki et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Reversal of Surfactant Protein B Deficiency in Patient Specific Human Induced Pluripotent Stem Cell Derived Lung Organoids by Gene Therapy

(2019) Sandra Lawrynowicz Leibel et al.   Scientific Reports

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

(2019) Raphael Borie et al.   Orphanet Journal of Rare Diseases

Genetic causes and clinical management of pediatric interstitial lung diseases

(2018) Nadia Nathan et al.   CURRENT OPINION IN PULMONARY MEDICINE

Expression of mutant Sftpc in murine alveolar epithelia drives spontaneous lung fibrosis

(2018) Shin-Ichi Nureki et al.   JOURNAL OF CLINICAL INVESTIGATION

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

(2017) Pierre-Antoine Juge et al.   EUROPEAN RESPIRATORY JOURNAL

Surfactant protein A down-regulates epidermal growth factor receptor by mechanisms different from those of surfactant protein D

(2017) Yoshihiro Hasegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism

(2017) Whitney B. Eldridge et al.   JOURNAL OF PEDIATRICS

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

(2017) Juan A. López-Andreu et al.   JOURNAL OF PEDIATRICS

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

(2017) Marco Somaschini et al.   Journal of Perinatology

Genetic basis for childhood interstitial lung disease among Japanese infants and children

(2017) Itaru Hayasaka et al.   PEDIATRIC RESEARCH

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations

(2017) Elodie Nattes et al.   RESPIRATORY MEDICINE

Unfavourable outcome of glucocorticoid treatment in suspected idiopathic pulmonary fibrosis

(2017) Ivo A. Wiertz et al.   RESPIROLOGY

The biology of the ABCA3 lipid transporter in lung health and disease

(2016) Michael F. Beers et al.   CELL AND TISSUE RESEARCH

Prevalence and characteristics ofTERTandTERCmutations in suspected genetic pulmonary fibrosis

(2016) Raphael Borie et al.   EUROPEAN RESPIRATORY JOURNAL

Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive

(2016) Chad A. Newton et al.   EUROPEAN RESPIRATORY JOURNAL

GermlineSFTPA1mutation in familial idiopathic interstitial pneumonia and lung cancer

(2016) Nadia Nathan et al.   HUMAN MOLECULAR GENETICS

KRAS and NKX2-1 Mutations in Invasive Mucinous Adenocarcinoma of the Lung

(2016) David H. Hwang et al.   Journal of Thoracic Oncology

Lung disease caused byABCA3mutations

(2016) Carolin Kröner et al.   THORAX

Real World Experiences: Pirfenidone and Nintedanib are Effective and Well Tolerated Treatments for Idiopathic Pulmonary Fibrosis

(2016) Gareth Hughes et al.   Journal of Clinical Medicine

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

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

Genotype alone does not predict the clinical course ofSFTPCdeficiency in paediatric patients

(2015) Carolin Kröner et al.   EUROPEAN RESPIRATORY JOURNAL

Comorbidities in idiopathic pulmonary fibrosis patients: a systematic literature review

(2015) Ganesh Raghu et al.   EUROPEAN RESPIRATORY JOURNAL

Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3

(2015) Alessandro Paolini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

In vivo genome editing using nuclease-encoding mRNA corrects SP-B deficiency

(2015) Azita J Mahiny et al.   NATURE BIOTECHNOLOGY

Surfactant proteins in pediatric interstitial lung disease

(2015) Matthias Griese et al.   PEDIATRIC RESEARCH

Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks)

(2014) Hodad M. Naderi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

(2014) Jennifer A. Wambach et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Macrophage Dysfunction and Susceptibility to Pulmonary Pseudomonas aeruginosa Infection in Surfactant Protein C-Deficient Mice

(2014) S. W. Glasser et al.   JOURNAL OF IMMUNOLOGY

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

(2014) Anne Thorwarth et al.   JOURNAL OF MEDICAL GENETICS

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

(2014) Ilaria Campo et al.   RESPIRATORY RESEARCH

The Witschi Hypothesis revisited after 35 years: genetic proof from SP-C BRICHOS domain mutations

(2013) Bruce D. Uhal et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

(2013) Geoffrey Kurland et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

(2013) Aaron Hamvas et al.   CHEST

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

(2013) R. Epaud et al.   EUROPEAN RESPIRATORY JOURNAL

Ligands and receptors of lung surfactant proteins SP-A and SP-D

(2013) Anne Jakel   Frontiers in Bioscience-Landmark

Type 2 alveolar cells are stem cells in adult lung

(2013) Christina E. Barkauskas et al.   JOURNAL OF CLINICAL INVESTIGATION

Natural history of five children with surfactant protein C mutations and interstitial lung disease

(2013) Avraham Avital et al.   PEDIATRIC PULMONOLOGY

Genetic Complexity of the Human Innate Host Defense Molecules, Surfactant Protein A1 (SP-A1) and SP-A2—Impact on Function

(2012) Joanna Floros et al.   CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

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

Sex Differences and Sex Steroids in Lung Health and Disease

(2012) Elizabeth A. Townsend et al.   ENDOCRINE REVIEWS

Prednisone, Azathioprine, andN-Acetylcysteine for Pulmonary Fibrosis

(2012)   NEW ENGLAND JOURNAL OF MEDICINE

Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome

(2012) J. A. Wambach et al.   PEDIATRICS

High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C

(2012) H. Willander et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation

(2012) Ralf Zarbock et al.   BMC Pulmonary Medicine

An Insight into the Diverse Roles of Surfactant Proteins, SP-A and SP-D in Innate and Adaptive Immunity

(2012) Annapurna Nayak et al.   Frontiers in Immunology

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

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

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children

(2011) Florence Flamein et al.   HUMAN MOLECULAR GENETICS

Alveolar Epithelial Cells Undergo Epithelial-to-Mesenchymal Transition in Response to Endoplasmic Reticulum Stress

(2011) Harikrishna Tanjore et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis

(2011) Kevin O'Brien et al.   MOLECULAR GENETICS AND METABOLISM

Surfactant Dysfunction

(2011) W. Adam Gower et al.   Paediatric Respiratory Reviews

Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation

(2011) V. Cottin et al.   THORAX

A Nonaggregating Surfactant Protein C Mutant Is Misdirected to Early Endosomes and Disrupts Phospholipid Recycling

(2011) Michael F. Beers et al.   TRAFFIC

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

Characteristics of disorders associated with genetic mutations of surfactant protein C

(2010) G. Thouvenin et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling

(2010) Markus Woischnik et al.   BMC CELL BIOLOGY

Identification of Early Interstitial Lung Disease in an Individual With Genetic Variations in ABCA3 and SFTPC

(2010) Peter F. Crossno 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

Targeted Injury of Type II Alveolar Epithelial Cells Induces Pulmonary Fibrosis

(2009) Thomas H. Sisson et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

New surfactant protein C gene mutations associated with diffuse lung disease

(2009) L Guillot et al.   JOURNAL OF MEDICAL GENETICS

Genetic Disorders of Surfactant Dysfunction

(2009) Susan E. Wert et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

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

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

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

Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung

(2008) Vijay Boggaram   CLINICAL SCIENCE

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

(2008) Tami H Garmany et al.   PEDIATRIC RESEARCH

Surfactant proteins SP-B and SP-C and their precursors in bronchoalveolar lavages from children with acute and chronic inflammatory airway disease

(2008) Oliver Tafel et al.   BMC Pulmonary Medicine