Varaico: Literature-Extracted Genetic Variants

Gene:FOXF1
Variant:p.S52F
Back to variants list

FOXF1

NM_001451.3:p.S52F

Associated Papers

FOXF2 regulates pericyte-endothelial signaling required for vascular homeostasis after neonatal hyperoxic lung injury.

Sun F et al.

Nature Communications, 2026

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Edel GG et al.

Journal of Biomedical Science, 2024

Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?

Bush A

Paediatric Respiratory Reviews, 2024

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Edel GG et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2023

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.

Guo M et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia.

Pradhan A et al.

American Journal of Respiratory and Critical Care Medicine, 2023

FOXF1 Regulates Alveolar Epithelial Morphogenesis through Transcriptional Activation of Mesenchymal WNT5A.

Reza AA et al.

American Journal of Respiratory Cell and Molecular Biology, 2023

Endothelial progenitor cells stimulate neonatal lung angiogenesis through FOXF1-mediated activation of BMP9/ACVRL1 signaling.

Wang G et al.

Nature Communications, 2022

Nanoparticle Delivery of STAT3 Alleviates Pulmonary Hypertension in a Mouse Model of Alveolar Capillary Dysplasia.

Sun F et al.

Circulation, 2021

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia.

Pradhan A et al.

American Journal of Respiratory and Critical Care Medicine, 2019

A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.

Wambach JA et al.

American Journal of Respiratory and Critical Care Medicine, 2019

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Sen P et al.

Human Mutation, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."