Associated Papers
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis.
Xu X et al.
Chinese Medical Journal, 2023
SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia.
van Moorsel CH et al.
American Journal of Respiratory and Critical Care Medicine, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Surfactant protein A genetic variants associate with severe respiratory insufficiency in pandemic influenza A virus infection.
Herrera-Ramos E et al.
Critical Care (london, England), 2014
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Coghlan MA et al.
Bmj Open Respiratory Research, 2014
Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene.
Azad AK et al.
Genes and Immunity, 2013
SP-A1, SP-A2 and SP-D gene polymorphisms in severe acute respiratory syncytial infection in Chilean infants.
Ampuero S et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2011
Idiopathic pulmonary fibrosis: update on genetic discoveries.
Garcia CK
Proceedings of the American Thoracic Society, 2011
Allergic bronchopulmonary aspergillosis in asthma and cystic fibrosis.
Knutsen AP et al.
Clinical & Developmental Immunology, 2011
Immunopathology and immunogenetics of allergic bronchopulmonary aspergillosis.
Knutsen AP
Journal of Allergy, 2011
Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress.
Maitra M et al.
The Journal of Biological Chemistry, 2010
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.
Wang Y et al.
American Journal of Human Genetics, 2009
Human genetic factors and respiratory syncytial virus disease severity.
Miyairi I et al.
Clinical Microbiology Reviews, 2008
Surfactant protein polymorphisms and neonatal lung disease.
Hallman M et al.
Seminars in Perinatology, 2006
IL-4 alpha chain receptor (IL-4Ralpha) polymorphisms in allergic bronchopulmonary sspergillosis.
Knutsen AP et al.
Clinical and Molecular Allergy : Cma, 2006
Association of polymorphisms in the collagen region of SP-A2 with increased levels of total IgE antibodies and eosinophilia in patients with allergic bronchopulmonary aspergillosis.
Saxena S et al.
The Journal of Allergy and Clinical Immunology, 2003
Association of polymorphisms in the collagen region of human SP-A1 and SP-A2 genes with pulmonary tuberculosis in Indian population.
Madan T et al.
Clinical Chemistry and Laboratory Medicine, 2002