Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 32 of 44

Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome

Emily M. DeBoer, Kristine Wolter-Warmerdam, Robin R. Deterding, Juana Marmolejo, Tom Blumenthal, Joaquin M. Espinosa, Francis Hickey, Brandie D. WagnerUniversity of Colorado School of Medicine. United States Clinical PediatricsClin Pediatr 2023; DOI: 10.1177/00099228231179453 AbstractPulmonary disease, lower respiratory tract infection, and pneumonia are the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but

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Single-cell transcriptomic profiling of microvascular endothelial cell heterogeneity in congenital diaphragmatic hernia

Jason O. Robertson, Peter Bazeley, Serpil C. Erzurum, Kewal AsosinghCleveland Clinic.United States Scientific ReportsSci Rep 2023; 13DOI: 10.1038/s41598-023-37050-y AbstractCongenital diaphragmatic hernia (CDH) is a neonatal anomaly that includes pulmonary hypoplasia and hypertension. We hypothesized that microvascular endothelial cell (EC) heterogeneity is different in CDH lungs and related to lung underdevelopment and remodeling. To test this, we

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Molecular insights using spatial transcriptomics of the distal lung in Congenital Diaphragmatic Hernia

Krithika Lingappan, Oluyinka O. Olutoye II, Abiud Cantu, Manuel Eliezer Cantu Gutierrez, Nahir Cortes-Santiago, J. D. Hammond, Jamie Gilley, Joselyn Rojas Quintero, Hui Li, Francesca Polverino, Jason P. Gleghorn, Sundeep G. KeswaniChildren’s Hospital of Philadelphia. Baylor College of Medicine and Texas Children’s Hospital. University of Delaware. United States American Journal of Physiology Lung Cellular and

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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna

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PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced Apoptosis of Pulmonary Artery Endothelial Cells

Yujing Zhao, Juan Wu, Shuai Guan, Ting Xue, Xiaolei Wei, Dawei Cao, Pengzhou Kong, Xinri ZhangThe First Hospital of Shanxi Medical University. The First People’s Hospital of Datong.China International Journal of Chronic Obstructive Pulmonary DiseaseInt J Chron Obstruct Pulmon Dis 2023; 18: 1319-1332DOI: 10.2147/COPD.S406453 AbstractPurpose: Pulmonary artery hypertension (PAH) is a common complication of chronic obstructive pulmonary

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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Carrie L. Welch, Micheala A. Aldred, Scrimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Graf, Arjan C. Houweling, Rajiv D. Machado, Divya Pandya, Matina Prapa, Memoona Shaukat, Laura Southgate, Jair Tenorio-Castano, ClinGen PH VCEP, Wendy K. Chung, and Multiple Collaborators. International Consortium for Genetic Studies in Pulmonary Hypertension at the Pulmonary Vascular Research InstituteMultiple InstitutionsMultiple

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Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Gabriëla G. Edel, Janna A. Hol, Evelien Slot, Jan H. von der Thüsen, Yolande van Bever, Rogier C.J. de Jonge, Marianne van Tienhoven, Hennie T. Bruggenwirth, Annelies de Klein, Robbert J. RottierErasmus MC Sophia Children’s Hospital. Netherlands Laboratory InvestigationLab Invest 2023; DOI: 10.1016/j.labinv.2023.100233 AbstractAlveolar capillary dysplasia with misalignment of pulmonary Veins (ACDMPV) is a lethal congenital

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Acid ceramidase gene therapy ameliorates pulmonary arterial hypertension with right heart dysfunction

Michael G. Katz, Yoav Hadas, Adam Vincek, Lina Freage‑Kahn, Nataly Shtraizent, Jeko M. Madjarov, Peter Pastuszko, Efrat Eliyahu Icahn School of Medicine at Mount Sinai. SeneX Therapeutics Inc. Atrium Health Sanger Heart and Vascular Institute. Wake Forest School of Medicine. United States Respiratory ResearchRespir Res 2023; 24DOI: 10.1186/s12931-023-02487-2 AbstractBackground: Up-regulation of ceramides in pulmonary hypertension (PH), contributing to

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Identification of ACKR4 as an immune checkpoint in pulmonary arterial hypertension

Chen-Yu Jiang, Li-Wei Wu, Yi-Wei Liu, Bei Feng, Lin-Cai Ye, Xu Huang, Yang-Yang He, Yi Shen, Yi-Fan Zhu, Xing-Liang Zhou, Dai-Ji Jiang, Hai-Kun Qi, Hao Zhang, Yi YanShanghai Children’s Medical Center. Henan University. Shanghaitech University. China Frontiers in ImmunologyFront Immunol 2023; DOI: 10.3389/fimmu.2023.1153573 AbstractObjective: Inflammation is recognized as a contributor in the development of pulmonary arterial hypertension

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