A common mutation in the surfactant protein C gene associated with lung disease

Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening

2002 • 987 citations

A Mutation in the Surfactant Protein C Gene Associated with Familial Interstitial Lung Disease

2001 • 888 citations

Heterozygosity for a Surfactant Protein C Gene Mutation Associated with Usual Interstitial Pneumonitis and Cellular Nonspecific Interstitial Pneumonitis in One Kindred

2002 • 635 citations

Deficiency of Pulmonary Surfactant Protein B in Congenital Alveolar Proteinosis

1993 • 630 citations

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

1994 • 561 citations

Hyaline membrane disease

1956 • 413 citations

Function of Surfactant Proteins B and C

2001 • 364 citations

Allelic Heterogeneity in Hereditary Surfactant Protein B (SP-B) Deficiency

2000 • 249 citations

Hyaline Membrane Disease

1974 • 228 citations

Pneumonitis and Emphysema in sp-C Gene Targeted Mice

2003 • 212 citations

Polymorphisms of human SP‐A, SP‐B, and SP‐D genes: association of SP‐B Thr131Ile with ARDS

2000 • 195 citations

Mutations in the Surfactant Protein C Gene Associated With Interstitial Lung Disease

2002 • 192 citations

Aberrant processing of surfactant protein C in hereditary SP-B deficiency

1995 • 186 citations

Importance of Hydrophobic Apoproteins as Constituents of Clinical Exogenous Surfactants

1992 • 179 citations

Expression of a Human Surfactant Protein C Mutation Associated with Interstitial Lung Disease Disrupts Lung Development in Transgenic Mice

2003 • 154 citations

Surfactant protein SP-B induces ordering at the surface of model membrane bilayers

1990 • 151 citations

Surfactant protein deficiency in familial interstitial lung disease

2001 • 147 citations

Progressive Lung Disease and Surfactant Dysfunction with a Deletion in Surfactant Protein C Gene

2003 • 124 citations

Two SP-C genes encoding human pulmonary surfactant proteolipid.

1988 • 100 citations

Genetic Disorders of Neonatal Respiratory Function

2001 • 94 citations

Structural Requirements for Targeting of Surfactant Protein B (SP-B) to Secretory Granules in Vitro and in Vivo

1996 • 72 citations

Surfactant protein B polymorphism and respiratory distress syndrome in premature twins

2003 • 61 citations

Surfactant Protein A and B Genetic Variants in Respiratory Distress Syndrome in Singletons and Twins

2003 • 60 citations

Synthetic Processing of Surfactant Protein C by Alevolar Epithelial Cells

1998 • 57 citations

Population-Based Screening for Rare Mutations: High-Throughput DNA Extraction and Molecular Amplification from Guthrie Cards

2001 • 56 citations

A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

2002 • 45 citations

The C-terminal Domain of the Pulmonary Surfactant Protein C Precursor Contains Signals for Intracellular Targeting

1992 • 35 citations

Human Surfactant Protein-A Contains Blood Group A Antigenic Determinants

1992 • 28 citations

Mutation of a highly conserved isoleucine disrupts hydrophobic interactions in the αβ spectrin self-association binding site

2004 • 16 citations