Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.T138N
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SFTPC

NM_001317778.2:p.T138N

Associated Papers

[Analysis of association of SP-C gene polymorphisms with Neonatal respiratory distress syndrome].

Tang Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Common Mutations in the Surfactant Protein-C Gene in Iranian Patients with Diffuse Parenchymal Lung Disease.

Pourabdollah Toutkaboni M et al.

Tanaffos, 2024

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.

Abdel Megeid AK et al.

Journal, Genetic Engineering & Biotechnology, 2022

Association analysis of the surfactant protein-C gene to childhood asthma.

Nefzi M et al.

The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 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

Interventional creation of an endogenous reverse Potts shunt in an infant with pulmonary hypertension and genetic surfactant disorder-a case report.

Sallmon H et al.

Cardiovascular Diagnosis and Therapy, 2020

Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.

Chen J et al.

Pediatric Pulmonology, 2019

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Pachajoa H et al.

Journal of Medical Case Reports, 2016

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.

Chen YJ et al.

World Journal of Pediatrics : Wjp, 2016

A novel surfactant protein C L55F mutation associated with interstitial lung disease alters subcellular localization of proSP-C in A549 cells.

Liu T et al.

Pediatric Research, 2016

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.

Campo I et al.

Respiratory Research, 2014

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

Coghlan MA et al.

Bmj Open Respiratory Research, 2014

[Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang].

Chen YJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.

Wambach JA et al.

Pediatric Research, 2010

Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.

Baekvad-Hansen M et al.

Respiratory Medicine, 2010

Genetic and epidemiological risk factors in the development of bronchopulmonary dysplasia.

Mailaparambil B et al.

Disease Markers, 2010

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Hamvas A et al.

The Journal of Pediatrics, 2009

Association of interleukin-13/-4 and toll-like receptor 10 with preterm births.

Heinzmann A et al.

Neonatology, 2009

Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias.

Markart P et al.

The European Respiratory Journal, 2007

Familial interstitial pulmonary fibrosis: a large family with atypical clinical features.

Chibbar R et al.

Canadian Respiratory Journal, 0

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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."