Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.G100S
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SFTPC

NM_001317778.2:p.G100S

Associated Papers

Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.

Zhumagaliyeva A et al.

International Journal of Molecular Sciences, 2025

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

Targeting USP11 counteracts SFTPCI73T -associated interstitial lung disease in hiPSCs-derived alveolar organoids and in vivo models.

Karapurkar JK et al.

Theranostics, 2025

Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences.

Cerri S et al.

Medicina (kaunas, Lithuania), 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

Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.

Alysandratos KD et al.

Cell Reports, 2021

34469722 (PubMed )
Supplement: NIHMS1737383-supplement-3.pdf

Familial Interstitial Lung Disease.

Kropski JA

Seminars in Respiratory and Critical Care Medicine, 2020

Genetics of Idiopathic Pulmonary Fibrosis.

Barros A et al.

The American Journal of the Medical Sciences, 2019

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2018

Genetic Evaluation and Testing of Patients and Families with Idiopathic Pulmonary Fibrosis.

Kropski JA et al.

American Journal of Respiratory and Critical Care Medicine, 2017

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Litao MK et al.

Pediatric Pulmonology, 2017

Pulmonary fibrosis in the era of stratified medicine.

Mathai SK et al.

Thorax, 2016

Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor.

Graeber SY et al.

American Journal of Respiratory and Critical Care Medicine, 2015

Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Mulugeta S et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

Peca D et al.

European Journal of Human Genetics : Ejhg, 2015

Hereditary interstitial lung diseases manifesting in early childhood in Japan.

Akimoto T et al.

Pediatric Research, 2014

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.

Ono S et al.

The European Respiratory Journal, 2011

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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."