Genetic Factors Associated With Pulmonary Vascular Disease

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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Metabolic Deregulation in Pulmonary Hypertension

Rajamma Mathew, Sanda Iacobas, Jing Huang, Dumitru Andrei IacobasNew York Medical College. Rutgers University Biomedical and Health Sciences. Prairie View A&M University.United States Current Issues in Molecular BiologyCurr Issues Mol Biol 2023; 45: 4850-4874DOI: 10.3390/cimb45060309 AbstractThe high morbidity and mortality rate of pulmonary arterial hypertension (PAH) is partially explained by metabolic deregulation. The present study complements

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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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Atypical Hemolytic-Uremic Syndrome: Genetic Basis, Clinical Manifestations, and a Multidisciplinary Approach to Management

Keval Yerigeri, Saurav Kadatane, Kai Mongan, Olivia Boyer, Linda LG Burke, Sidharth Kumar Sethi, Christoph Licht, Rupesh RainaCase Western Reserve University and The MetroHealth System. University of Oklahoma Health Sciences Center. Northeast Ohio Medical University. Necker-Enfants Malades Hospital. Kidney and Urology Institute. University of Toronto. Akron Children’s Hospital.United States, France and Canada Journal of Multidisciplinary

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Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children

Katharina Schutz, Axel Schmidt, Nicolaus Schwerk, Diane Miriam Renz, Benedicte Gerard, Elise Schaefer, Maria Cristina Antal, Sophia Peters, Matthias Griese, Christina K. Rapp, Hartmut Engels, Kristen Cremer, Anke Katharina Bergmann, Gunnar Schmidt, Bernd Auber, Jan C. Kamp, Florian Laenger, Sandra von HardenbergHannover Medical School. School of Medicine, University Hospital Bonn and University of Bonn. German

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Pulmonary arterial hypertension in children with congenital heart disease: a deeper look into the role of endothelial progenitor cells and circulating endothelial cells to assess disease severity

Juan Calderón-Colmenero, Felipe Massó, Héctor González Pacheco, Julio Sandoval, Carlos Guerrero, Jorge Cervantes Salazar, José A. García-Montes, Araceli Paéz, Gabriela I. Pereira-López, Carlos Zabal-Cerdeira, Juan Pablo SandovalInstituto Nacional de Cardiologia Ignacio Chavez. Mexico Frontiers in PediatricsFront Pediatr 2023; 11DOI: 10.3389/fped.2023.1200395 AbstractEndothelial progenitor cells and circulating endothelial cells have been proposed as useful markers of severity and

Pulmonary arterial hypertension in children with congenital heart disease: a deeper look into the role of endothelial progenitor cells and circulating endothelial cells to assess disease severity Read More »

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