Published in N Engl J Med on March 25, 2004
Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med (2007) 3.72
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet (2013) 3.17
ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med (2005) 2.52
Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. Am J Respir Crit Care Med (2008) 2.29
Genome-scale analysis of DNA methylation in lung adenocarcinoma and integration with mRNA expression. Genome Res (2012) 2.10
Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med (2010) 2.05
Emerging concepts in the pathogenesis of lung fibrosis. Am J Pathol (2009) 2.05
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med (2008) 1.88
An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med (2013) 1.84
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest (2013) 1.83
Function of the Caenorhabditis elegans ABC transporter PGP-2 in the biogenesis of a lysosome-related fat storage organelle. Mol Biol Cell (2007) 1.80
Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol (2009) 1.77
The three R's of lung health and disease: repair, remodeling, and regeneration. J Clin Invest (2011) 1.68
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. Biochim Biophys Acta (2009) 1.66
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer. Nat Commun (2012) 1.58
Foxa2 is required for transition to air breathing at birth. Proc Natl Acad Sci U S A (2004) 1.57
ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration. J Bioenerg Biomembr (2007) 1.54
Transcriptional programs controlling perinatal lung maturation. PLoS One (2012) 1.41
ATP-binding cassette (ABC) transporters in normal and pathological lung. Respir Res (2005) 1.37
Kruppel-like factor 5 is required for perinatal lung morphogenesis and function. Development (2008) 1.35
Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res (2008) 1.35
Calcineurin/Nfat signaling is required for perinatal lung maturation and function. J Clin Invest (2006) 1.33
Advances in the diagnosis and management of persistent pulmonary hypertension of the newborn. Pediatr Clin North Am (2009) 1.31
Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res (2011) 1.28
Interstitial lung diseases in children. Orphanet J Rare Dis (2010) 1.28
The genetic approach in pulmonary fibrosis: can it provide clues to this complex disease? Proc Am Thorac Soc (2006) 1.25
Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome. Am J Respir Cell Mol Biol (2005) 1.23
Genetic Basis of Children's Interstitial Lung Disease. Pediatr Allergy Immunol Pulmonol (2010) 1.23
Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med (2014) 1.23
Anti-GM-CSF antibodies in paediatric pulmonary alveolar proteinosis. Thorax (2005) 1.22
ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. J Biol Chem (2008) 1.21
Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis. Am J Respir Cell Mol Biol (2007) 1.20
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics (2012) 1.18
Surfactant dysfunction. Paediatr Respir Rev (2011) 1.16
Childhood interstitial lung diseases: an 18-year retrospective analysis. Pediatrics (2013) 1.14
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet (2011) 1.12
Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC. Chest (2010) 1.12
An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res (2012) 1.11
Deletion of Scap in alveolar type II cells influences lung lipid homeostasis and identifies a compensatory role for pulmonary lipofibroblasts. J Biol Chem (2008) 1.09
Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport. Biochim Biophys Acta (2012) 1.09
Update on PPHN: mechanisms and treatment. Semin Perinatol (2014) 1.06
Interstitial lung disease in children -- genetic background and associated phenotypes. Respir Res (2005) 1.05
Smad1 and its target gene Wif1 coordinate BMP and Wnt signaling activities to regulate fetal lung development. Development (2011) 1.04
The ABCA subfamily--gene and protein structures, functions and associated hereditary diseases. Pflugers Arch (2006) 1.03
Diagnostic Pathology of Diffuse Lung Disease in Children. Pediatr Allergy Immunol Pulmonol (2010) 1.03
Nuclear receptor DHR96 acts as a sentinel for low cholesterol concentrations in Drosophila melanogaster. Mol Cell Biol (2009) 1.02
Diseases of pulmonary surfactant homeostasis. Annu Rev Pathol (2015) 1.01
Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome. Am J Respir Crit Care Med (2010) 1.00
Cited2 is required for fetal lung maturation. Dev Biol (2008) 1.00
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. Prog Lipid Res (2010) 0.99
A national internet-linked based database for pediatric interstitial lung diseases: the French network. Orphanet J Rare Dis (2012) 0.98
Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res (2010) 0.96
Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice. Am J Physiol Lung Cell Mol Physiol (2010) 0.95
ABC transporter A3 facilitates lysosomal sequestration of imatinib and modulates susceptibility of chronic myeloid leukemia cell lines to this drug. Haematologica (2009) 0.95
An overview of pulmonary surfactant in the neonate: genetics, metabolism, and the role of surfactant in health and disease. Mol Genet Metab (2009) 0.95
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. J Pediatr (2009) 0.95
ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn. Ulster Med J (2009) 0.94
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant. Respir Res (2014) 0.94
Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res (2005) 0.94
Updated molecular genetics and pathogenesis of ichthiyoses. Nagoya J Med Sci (2011) 0.93
Therapeutic lung lavages in children and adults. Respir Res (2005) 0.92
Cloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolism. Biochem J (2005) 0.92
What's new in surfactant? A clinical view on recent developments in neonatology and paediatrics. Eur J Pediatr (2007) 0.90
Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytes. J Biol Chem (2009) 0.90
ABCA1, from pathology to membrane function. Pflugers Arch (2006) 0.89
A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration. Front Psychiatry (2012) 0.89
Genetic interstitial lung disease. Clin Chest Med (2011) 0.89
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Dermatoendocrinol (2011) 0.88
The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3. BMC Mol Biol (2006) 0.87
Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol (2007) 0.87
STAT3 regulates ABCA3 expression and influences lamellar body formation in alveolar type II cells. Am J Respir Cell Mol Biol (2007) 0.87
A systems approach to mapping transcriptional networks controlling surfactant homeostasis. BMC Genomics (2010) 0.86
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol (2008) 0.84
Vacuolar import of phosphatidylcholine requires the ATP-binding cassette transporter Ybt1. Traffic (2011) 0.84
The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation. BMC Pulm Med (2012) 0.84
Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease. Am J Physiol Lung Cell Mol Physiol (2015) 0.83
Pediatric lung transplantation: indications and outcomes. J Thorac Dis (2014) 0.83
Deletion of STK40 protein in mice causes respiratory failure and death at birth. J Biol Chem (2013) 0.82
Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3. Am J Physiol Lung Cell Mol Physiol (2013) 0.82
Familial interstitial pulmonary fibrosis: a large family with atypical clinical features. Can Respir J (2010) 0.82
Lung surfactant, respiratory failure, and genes. N Engl J Med (2004) 0.82
Exogenous surfactant therapy in 2013: what is next? Who, when and how should we treat newborn infants in the future? BMC Pediatr (2013) 0.81
Different course of lung disease in two siblings with novel ABCA3 mutations. Eur J Pediatr (2013) 0.81
Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks). Am J Med Genet A (2014) 0.81
Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations. Eur J Pediatr (2013) 0.81
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet (2015) 0.80
Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. Eur J Pediatr (2007) 0.80
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. Am J Respir Cell Mol Biol (2016) 0.80
Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia. Ann Thorac Med (2016) 0.80
Subcellular localization of rat Abca5, a rat ATP-binding-cassette transporter expressed in Leydig cells, and characterization of its splice variant apparently encoding a half-transporter. Biochem J (2006) 0.79
Integrated lipidomics in the secreted phospholipase A(2) biology. Int J Mol Sci (2011) 0.79
The molecular era of surfactant biology. Neonatology (2014) 0.79
Diffuse lung disease in children: summary of a scientific conference. Pediatr Pulmonol (2013) 0.79
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3. Int J Mol Sci (2015) 0.79
Lung vitamin E transport processes are affected by both age and environmental oxidants in mice. Toxicol Appl Pharmacol (2007) 0.79
Surfactant lipidomics in healthy children and childhood interstitial lung disease. PLoS One (2015) 0.78
Genetic risk factors associated with respiratory distress syndrome. Korean J Pediatr (2014) 0.78
Delivery and performance of surfactant replacement therapies to treat pulmonary disorders. Ther Deliv (2013) 0.78
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell (2003) 12.50
Retracted Detection of an infectious retrovirus, XMRV, in blood cells of patients with chronic fatigue syndrome. Science (2009) 10.76
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet (2006) 8.33
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41
Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell (2012) 5.62
Early restriction of peripheral and proximal cell lineages during formation of the lung. Proc Natl Acad Sci U S A (2002) 5.54
GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. N Engl J Med (2007) 4.94
Pulmonary alveolar proteinosis. N Engl J Med (2003) 4.93
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A (2008) 4.76
Conditional gene expression in the respiratory epithelium of the mouse. Transgenic Res (2002) 4.01
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet (2013) 3.87
Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med (2007) 3.72
The B30.2(SPRY) domain of the retroviral restriction factor TRIM5alpha exhibits lineage-specific length and sequence variation in primates. J Virol (2005) 3.63
Transcriptional control of lung morphogenesis. Physiol Rev (2007) 3.58
beta-Catenin is required for specification of proximal/distal cell fate during lung morphogenesis. J Biol Chem (2003) 3.37
A Gata6-Wnt pathway required for epithelial stem cell development and airway regeneration. Nat Genet (2008) 3.37
Defective lipoxin-mediated anti-inflammatory activity in the cystic fibrosis airway. Nat Immunol (2004) 2.86
Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates. Annu Rev Genomics Hum Genet (2005) 2.80
The multidrug resistance transporter ABCG2 (breast cancer resistance protein 1) effluxes Hoechst 33342 and is overexpressed in hematopoietic stem cells. Clin Cancer Res (2002) 2.75
Wnt/beta-catenin signaling acts upstream of N-myc, BMP4, and FGF signaling to regulate proximal-distal patterning in the lung. Dev Biol (2005) 2.73
ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med (2005) 2.52
Foxa1 and Foxa2 regulate multiple phases of midbrain dopaminergic neuron development in a dosage-dependent manner. Development (2007) 2.40
Foxa2 regulates alveolarization and goblet cell hyperplasia. Development (2004) 2.35
Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene. J Mol Med (Berl) (2002) 2.34
SPDEF is required for mouse pulmonary goblet cell differentiation and regulates a network of genes associated with mucus production. J Clin Invest (2009) 2.28
Interleukin-1beta causes pulmonary inflammation, emphysema, and airway remodeling in the adult murine lung. Am J Respir Cell Mol Biol (2005) 2.28
Gm-CSF regulates pulmonary surfactant homeostasis and alveolar macrophage-mediated innate host defense. Annu Rev Physiol (2002) 2.23
Compensatory roles of Foxa1 and Foxa2 during lung morphogenesis. J Biol Chem (2005) 2.15
A regulatory role for the C5a anaphylatoxin in type 2 immunity in asthma. J Clin Invest (2006) 2.15
Sox17 regulates organ lineage segregation of ventral foregut progenitor cells. Dev Cell (2009) 2.14
The pulmonary collectins, SP-A and SP-D, orchestrate innate immunity in the lung. J Clin Invest (2002) 2.13
Transdifferentiation of ciliated cells during repair of the respiratory epithelium. Am J Respir Cell Mol Biol (2005) 2.12
Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med (2010) 2.05
SP-B deficiency causes respiratory failure in adult mice. Am J Physiol Lung Cell Mol Physiol (2003) 2.00
TAZ interacts with TTF-1 and regulates expression of surfactant protein-C. J Biol Chem (2004) 1.98
ABCG2: a perspective. Adv Drug Deliv Rev (2008) 1.97
SPDEF regulates goblet cell hyperplasia in the airway epithelium. J Clin Invest (2007) 1.96
Ectopic respiratory epithelial cell differentiation in bronchiolised distal airspaces in idiopathic pulmonary fibrosis. Thorax (2011) 1.93
Beta-catenin regulates differentiation of respiratory epithelial cells in vivo. Am J Physiol Lung Cell Mol Physiol (2005) 1.93
Deletion of Forkhead Box M1 transcription factor from respiratory epithelial cells inhibits pulmonary tumorigenesis. PLoS One (2009) 1.93
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med (2008) 1.88
Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci (2011) 1.87
Pten controls lung morphogenesis, bronchioalveolar stem cells, and onset of lung adenocarcinomas in mice. J Clin Invest (2007) 1.86
Airway epithelial transcription factor NK2 homeobox 1 inhibits mucous cell metaplasia and Th2 inflammation. Am J Respir Crit Care Med (2011) 1.84
An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med (2013) 1.84
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest (2013) 1.83
GM-CSF in the lung protects against lethal influenza infection. Am J Respir Crit Care Med (2011) 1.83
Conditional recombination reveals distinct subsets of epithelial cells in trachea, bronchi, and alveoli. Am J Respir Cell Mol Biol (2005) 1.83
GATA6 regulates differentiation of distal lung epithelium. Development (2002) 1.82
Fine mapping and functional analysis of a common variant in MSMB on chromosome 10q11.2 associated with prostate cancer susceptibility. Proc Natl Acad Sci U S A (2009) 1.81
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. J Natl Cancer Inst (2013) 1.81
Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol (2009) 1.77
Increased and prolonged pulmonary fibrosis in surfactant protein C-deficient mice following intratracheal bleomycin. Am J Pathol (2005) 1.76
Role of Sonic hedgehog in patterning of tracheal-bronchial cartilage and the peripheral lung. Dev Dyn (2004) 1.75
Immunohistochemical localization of Foxa1 and Foxa2 in mouse embryos and adult tissues. Gene Expr Patterns (2004) 1.75
TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression. J Biol Chem (2003) 1.75
Genetic disorders influencing lung formation and function at birth. Hum Mol Genet (2004) 1.75
Mutations in the surfactant protein C gene associated with interstitial lung disease. Chest (2002) 1.74
Physical and mental health of homebound older adults: an overlooked population. J Am Geriatr Soc (2010) 1.69
Sox2 is required for maintenance and differentiation of bronchiolar Clara, ciliated, and goblet cells. PLoS One (2009) 1.69
R-spondin 2 is required for normal laryngeal-tracheal, lung and limb morphogenesis. Development (2008) 1.66
C/EBPalpha is required for lung maturation at birth. Development (2006) 1.65
Methylation markers of early-stage non-small cell lung cancer. PLoS One (2012) 1.65
Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice. J Biol Chem (2003) 1.62
Pneumonitis and emphysema in sp-C gene targeted mice. J Biol Chem (2003) 1.62
Effects of human TRIM5alpha polymorphisms on antiretroviral function and susceptibility to human immunodeficiency virus infection. Virology (2006) 1.59
Human GM-CSF autoantibodies and reproduction of pulmonary alveolar proteinosis. N Engl J Med (2009) 1.58
Foxa2 is required for transition to air breathing at birth. Proc Natl Acad Sci U S A (2004) 1.57
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
Meta-analysis of microRNA expression in lung cancer. Int J Cancer (2012) 1.54
The Drakensberg declaration on the control of rheumatic fever and rheumatic heart disease in Africa. S Afr Med J (2006) 1.53
Evolution of a cytoplasmic tripartite motif (TRIM) protein in cows that restricts retroviral infection. Proc Natl Acad Sci U S A (2006) 1.53
The essential vertebrate ABCE1 protein interacts with eukaryotic initiation factors. J Biol Chem (2006) 1.52
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn. J Pediatr (2007) 1.52