Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
Hydrophilic But Not Hydrophobic Surfactant Protein Genetic Variants Are Associated With Severe Acute Respiratory Syncytial Virus Infection in Children.
Depicolzuane LC et al.
Frontiers in Immunology, 2022
Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.
Baratella E et al.
Diagnostics (basel, Switzerland), 2021
Genetic variation in surfactant protein-A2 alters responses to ozone.
Pederson WP et al.
Plos One, 2021
Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis.
Liu L et al.
Molecular Genetics & Genomic Medicine, 2020
Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.
Nogales A et al.
Pathogens (basel, Switzerland), 2019
Genetic Variation in Surfactant Protein-A2 Delays Resolution of Eosinophilia in Asthma.
Dy ABC et al.
Journal of Immunology (baltimore, Md. : 1950), 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia.
van Moorsel CH et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Genetic variation in SP-A2 leads to differential binding to Mycoplasma pneumoniae membranes and regulation of host responses.
Ledford JG et al.
Journal of Immunology (baltimore, Md. : 1950), 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
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
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Coghlan MA et al.
Bmj Open Respiratory Research, 2014
Genetic susceptibility to meningococcal infection.
Dale AP et al.
Expert Review of Anti-infective Therapy, 2013
A study of collectin genes in spontaneous preterm birth reveals an association with a common surfactant protein D gene polymorphism.
Karjalainen MK et al.
Pediatric Research, 2012
Human surfactant protein A2 gene mutations impair dimmer/trimer assembly leading to deficiency in protein sialylation and secretion.
Song Y et al.
Plos One, 2012
Idiopathic pulmonary fibrosis: update on genetic discoveries.
Garcia CK
Proceedings of the American Thoracic Society, 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
Long-range PCR based sequencing of the highly homologous genes, SFTPA1 and SFTPA2.
Horton CJ et al.
Molecular and Cellular Probes, 0