Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

Bronchiectasis and severe respiratory insufficiency associated with a new surfactant protein C mutation

(2012) Teresa Salerno et al.   ACTA PAEDIATRICA

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

A national internet-linked based database for pediatric interstitial lung diseases: the French network

(2012) Nadia Nathan et al.   Orphanet Journal of Rare Diseases

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

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

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

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

Characteristics of disorders associated with genetic mutations of surfactant protein C

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

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

(2010) Peter F. Crossno et al.   CHEST

New surfactant protein C gene mutations associated with diffuse lung disease

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

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

(2009) Rola Abou Taam et al.   PEDIATRIC PULMONOLOGY

Usual Interstitial Pneumonia in an Adolescent With ABCA3 Mutations*

(2008) Lisa R. Young et al.   CHEST

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene

(2008) Amy D. McBee et al.   PEDIATRIC PULMONOLOGY