Faculty Opinions recommendation of The S52F FOXF1 mutation inhibits STAT3 signaling and causes alveolar capillary dysplasia.

2019 ◽  
Author(s):  
Lawrence Nogee
Keyword(s):  
Alveolar Capillary Dysplasia ◽  
Stat3 Signaling ◽  
Alveolar Capillary

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

2019 ◽  
Vol 200 (8) ◽  
pp. 1045-1056 ◽  
Author(s):  
Arun Pradhan ◽  
Andrew Dunn ◽  
Vladimir Ustiyan ◽  
Craig Bolte ◽  
Guolun Wang ◽  
...  
Keyword(s):  
Alveolar Capillary Dysplasia ◽  
Stat3 Signaling ◽  
Alveolar Capillary

Congenital Alveolar Capillary Dysplasia: Rare Cause of Persistent Pulmonary Hypertension

1997 ◽  
Vol 17 (6) ◽  
pp. 959-975 ◽  
Author(s):  
Sibylle Haraida ◽  
Hannelore Lochbuhler ◽  
A. Heger ◽  
A. Nerlich ◽  
J. Diebold ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Persistent Pulmonary Hypertension ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion

2021 ◽  
Author(s):  
Chloé Puisney‐Dakhli ◽  
Francesca Gubana ◽  
François Petit ◽  
Hanane Bouchghoul ◽  
Valérie Gautier ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

237: CONGENITAL HEART DISEASE AND ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS

2018 ◽  
Vol 46 (1) ◽  
pp. 101-101
Author(s):  
Katharine Robb ◽  
Sook-kyung Kwon ◽  
Veerajalandhar Allareddy ◽  
Aditya Badheka
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

scholarly journals Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

2018 ◽  
Vol 8 (3) ◽  
pp. 204589401879514 ◽  
Author(s):  
Evelien Slot ◽  
Gabriëla Edel ◽  
Ernest Cutz ◽  
Arno van Heijst ◽  
Martin Post ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Molecular Mechanism ◽  
Pulmonary Veins ◽  
Clinical Aspects ◽  
Lung Disorder ◽  
Genetic Studies ◽  
Ongoing Research ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary ◽  
Severe Lung

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of the underlying molecular mechanism of ACD/MPV and genetic studies have identified associations with genomic alterations in the locus of the transcription factor FOXF1. This in turn has increased the awareness among clinicians resulting in over 200 cases reported so far, including genotyping of patients in most recent reports. Collectively, this promoted a better stratification of the patient group, leading to new perspectives in research on the pathogenesis. Here, we provide an overview of the clinical aspects of ACD/MPV, including guidance for clinicians, and review the ongoing research into the complex molecular mechanism causing this severe lung disorder.

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