Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.T131I
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SFTPB

NM_000542.5:p.T131I

Associated Papers

Cumulative evidence of the genetic association between SP-B C1580T polymorphisms and risk of neonatal respiratory distress syndrome.

Ruan T et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2023

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.

Fishchuk L et al.

Respiratory Investigation, 2023

The Common Haplotype GATGACA in Surfactant-Protein B Gene Is Protective for Respiratory Distress Syndrome in Preterm Neonates.

Mikolajcikova S et al.

Frontiers in Pediatrics, 2022

Single Nucleotide Polymorphisms (SNP) and SNP-SNP Interactions of the Surfactant Protein Genes Are Associated With Idiopathic Pulmonary Fibrosis in a Mexican Study Group; Comparison With Hypersensitivity Pneumonitis.

Abbasi A et al.

Frontiers in Immunology, 2022

Single nucleotide polymorphisms of the HIF1A gene are associated with susceptibility to pulmonary arterial hypertension in systemic sclerosis and contribute to SSc-PAH disease severity.

Takagi K et al.

International Journal of Rheumatic Diseases, 2020

Testing gene-environment interactions for rare and/or common variants in sequencing association studies.

Zhao Z et al.

Plos One, 2020

Surfactant protein A and D polymorphisms and methylprednisolone pharmacogenetics in donor lungs.

Aramini B et al.

The Journal of Thoracic and Cardiovascular Surgery, 2019

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1

Donor surfactant protein D (SP-D) polymorphisms are associated with lung transplant outcome.

Aramini B et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2013

The association of Toll-like receptor 4 gene polymorphisms with the development of emphysema in Japanese subjects: a case control study.

Ito M et al.

Bmc Research Notes, 2012

Inflammation and immune-related candidate gene associations with acute lung injury susceptibility and severity: a validation study.

O'Mahony DS et al.

Plos One, 2012

23251429 (PubMed )
Supplement: pone.0051104.s003.docx

Genetic variants and monoallelic expression of surfactant protein-D in inflammatory bowel disease.

Lin Z et al.

Annals of Human Genetics, 2011

Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.

Cho MH et al.

Respiratory Research, 2010

Chronic obstructive pulmonary disease: towards pharmacogenetics.

Wood AM et al.

Genome Medicine, 2009

Polymorphic variation in surfactant protein B is associated with COPD exacerbations.

Foreman MG et al.

The European Respiratory Journal, 2008

National Emphysema Treatment Trial state of the art: genetics of emphysema.

Hersh CP et al.

Proceedings of the American Thoracic Society, 2008

Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease.

Sumita Y et al.

Rheumatology (oxford, England), 2008

Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma.

Puthothu B et al.

Bmc Pulmonary Medicine, 2007

Genetic determinants of C-reactive protein in COPD.

Hersh CP et al.

The European Respiratory Journal, 2006

Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.

Pavlovic J et al.

Disease Markers, 2006

Genetic variant characterization in intron 4 of the surfactant protein B gene.

Hamvas A et al.

Human Mutation, 2005

-308GA and TNFB polymorphisms in acute respiratory distress syndrome.

Gong MN et al.

The European Respiratory Journal, 2005

Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.

Hersh CP et al.

American Journal of Respiratory Cell and Molecular Biology, 2005

Interstitial lung disease in children -- genetic background and associated phenotypes.

Hartl D et al.

Respiratory Research, 2005

Functional genomic insights into acute lung injury: role of ventilators and mechanical stress.

Nonas SA et al.

Proceedings of the American Thoracic Society, 2005

Surfactant gene polymorphisms and interstitial lung diseases.

Pantelidis P et al.

Respiratory Research, 2002

Genetic polymorphisms in lung disease: bandwagon or breakthrough?

Iannuzzi MC et al.

Respiratory Research, 2002

Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.

Haataja R et al.

Human Molecular Genetics, 2000

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

Lin Z et al.

Clinical Genetics, 2000

Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants.

Wallot M et al.

European Journal of Pediatrics, 1999

An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.

Lin Z et al.

Molecular Genetics and Metabolism, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."