ArticleNature medicine2013
Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.
Article in Nature medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 81 citations in OpenAlex.
- Three-Dimensional Visualization and Detection of the Pulmonary Venous-Left Atrium Connection Using Artificial Intelligence in Fetal Cardiac Ultrasound Screening.Bioengineering (Basel, Switzerland) · 2026Article
- Sema3dInternational journal of biological sciences · 2026Article
- Bronchopulmonary dysplasia with pulmonary hypertension associates with semaphorin signaling loss and functionally decreased FOXF1 expression.Nature communications · 2025Article
- A Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.Cureus · 2024Article
- Total Anomalous Pulmonary Venous Connections, Human Genetics.Advances in experimental medicine and biology · 2024Review
- Molecular Pathways and Animal Models of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- TAPVR: Molecular Pathways and Animal Models.Advances in experimental medicine and biology · 2024Review
- Understanding the Roles of the Hedgehog Signaling Pathway during T-Cell Lymphopoiesis and in T-Cell Acute Lymphoblastic Leukemia (T-ALL).International journal of molecular sciences · 2023Review
- Lymphangiogenesis Guidance Mechanisms and Therapeutic Implications in Pathological States of the Cornea.Cells · 2023Review
- Sema3d Restrained Hepatocellular Carcinoma Progression Through Inactivating Pi3k/Akt SignalingFrontiers in oncology · 2022Article
- Single cell atlas for 11 non-model mammals, reptiles and birds.Nature communications · 2021Article
- Primary pulmonary vein stenosis during infancy: state of the art review.Journal of perinatology : official journal of the California Perinatal Association · 2021Review
- Pulmonary Vein Stenosis: Incremental Knowledge Gains to Improve Outcomes.Children (Basel, Switzerland) · 2021Article
- Olig2-Induced Semaphorin Expression Drives Corticospinal Axon Retraction After Spinal Cord Injury.Cerebral cortex (New York, N.Y. : 1991) · 2020Article
- Development of the human heart.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Article
- Deficiency in the secreted protein Semaphorin3d causes abnormal parathyroid development in mice.The Journal of biological chemistry · 2019Article
- Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- A Novel Mouse Model for Cilia-Associated Cardiovascular Anomalies with a High Penetrance of Total Anomalous Pulmonary Venous Return.Anatomical record (Hoboken, N.J. : 2007) · 2019Article
- Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection.EBioMedicine · 2018Article
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
Total anomalous pulmonary venous connection (TAPVC) is a potentially lethal congenital disorder that occurs when the pulmonary veins do not connect normally to the left atrium, allowing mixing of pulmonary and systemic blood. In contrast to the extensive knowledge of arterial vascular patterning, little is known about the patterning of veins. Here we show that the secreted guidance molecule semaphorin 3d (Sema3d) is crucial for the normal patterning of pulmonary veins. Prevailing models suggest that TAPVC occurs when the midpharyngeal endothelial strand (MES), the precursor of the common pulmonary vein, does not form at the proper location on the dorsal surface of the embryonic common atrium. However, we found that TAPVC occurs in Sema3d mutant mice despite normal formation of the MES. In these embryos, the maturing pulmonary venous plexus does not anastomose uniquely with the properly formed MES. In the absence of Sema3d, endothelial tubes form in a region that is normally avascular, resulting in aberrant connections. Normally, Sema3d provides a repulsive cue to endothelial cells in this area, establishing a boundary. Sequencing of SEMA3D in individuals with anomalous pulmonary veins identified a phenylalanine-to-leucine substitution that adversely affects SEMA3D function. These results identify Sema3d as a crucial pulmonary venous patterning cue and provide experimental evidence for an alternate developmental model to explain abnormal pulmonary venous connections.
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