Genetic Factors Associated With Pulmonary Vascular Disease

Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study

Narongsak Nakwan, Surakameth Mahasirimongkol, Nusara Satproedprai, Tassamonwan Chaiyasung, Punna Kunhapan, Cheep Charoenlap, KumonnutSingkhamanan, Chariyawan CharalsawadiPrince of Songkla University. Nonthaburi Ministry of Public Heath. Hat Yai Hospital. Thailand Jornal de PediatriaJ Pediatr 2022; 98: 383-389DOI: 10.1016/j.jped.2021.09.003 AbstractObjective: To explore possible genes related to the development of persistent pulmonary hypertension of the newborn (PPHN).Methods: The authors identified 285 single nucleotide […]

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Channelopathy Genes in Pulmonary Arterial Hypertension

Carrie L. Welch, Wendy K. ChungColumbia University Irving Medical Center.United States BiomoleculesBiomolecules 2022; 12: DOI: 10.3390/biom12020265 AbstractPulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. The underlying pathogenetic mechanisms are heterogeneous and current therapies aim to decrease pulmonary vascular resistance but no curative treatments are available. Causal genetic variants can

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

Guolun Wang, Bingqiang Wen, Zicheng Deng Arun Pradhan, Tanya V. Kalin, Yufang Zhang, Olena A. Kolesnichenko, Vladimir Ustiyan, Vladimir V. KalinichenkoCincinnati Children’s Hospital Medical Center and University of Cincinnati. United States Nature CommunicationsNat Commun 2022; DOI: 10.1038/s41467-022-29746-y AbstractPulmonary endothelial progenitor cells (EPCs) are critical for neonatal lung angiogenesis and represent a subset of general capillary cells

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Caveolin-1 associated with severe (pediatric-onset) presentation of pulmonary arterial hypertension

Rachel Farrell, Elizabeth Colglazier, Claire Parker, Leah Stevens, Eric D. Austin, Jeffrey R. FinemanUCSF Benioff Children’s Hospital. Vanderbilt University Medical Center.United States Pulmonary CirculationPulm Circ 2022; 12: DOI: 10.1002/pul2.12100 AbstractThere has been a growing interest in the role that genetic factors influence pediatric pulmonary vascular disease. In fact, data suggests that genetic factors contribute to ~42%

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A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicolas W. Morrell, Susan ChristianUniversity of Cambridge. Stollery Children’s Hospital. University of Alberta.United Kingdom and Canada American Journal of Medical Genetics Part AAm J Med Genet A 2023; 191: 228-233DOI: 10.1002/ajmg.a.62996 AbstractPulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing

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Transpulmonary generation of cell-free hemoglobin contributes to vascular dysfunction in pulmonary arterial hypertension via dysregulated clearance mechanisms

Jamie E. Meegan, Vern Eric Kerchberger, Niki L. Fortune, Joel Brennan McNeil, Julie A. Bastarache, Eric D. Austin, Lorraine B. Ware, Anna R. Hemnes, Evan L. BrittainVanderbilt University Medical CenterUnited States Pulmonary CirculationPulm Circ 2023; 13: DOI: 10.1002/pul2.12185 AbstractCirculating cell-free hemoglobin (CFH) is elevated in pulmonary arterial hypertension (PAH) and associated with poor outcomes but the

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Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A. Tenorio-Castano, Florent Soubrier, Richard C. Trembath, Nicholas W. MorrellHeidelberg University Hospital. University of Leuven. Columbia University. University of Cambridge. Université Paris-Saclay. Hôpital Marie Lannelongue. Hospital Universitario La Paz. Centro de Investigación Biomédica en Red de Enfermedades Raras.

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Right Ventricular Maladaptation to Pressure Overload in Fischer Rats Is Associated With Profound Deficiency in Adenylate Kinase 1 and Impaired Ventricular Energetics

Jason G. E. Zelt, Virgilio Cadete, Yupu Deng, Rafael Godoy, Alexanne Cuillerier, Katelynn Rowe, Mohammad Abdul-Ghani, Lynn Megeney, Yan Burelle, Antonio Giulivi, Alexandre F. R. Stewart, Steeve Provencher, Sandra Breuils-Bonnet, Sébastien Bonnet, Robert deKemp, Rob Beanlands, Lisa M. Mielniczuk, Duncan J. StewartUniversity of Ottawa.Canada HypertensionHypertension 2022; 79: 2774-2786DOI: 10.1161/HYPERTENSIONAHA.122.19300 AbstractBackground: We explored the mechanism of maladaptive right

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An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants

David Montani, Benoit Lechartier, Barbara Girerd, Mélanie Eyries, Maria-Rosa Ghigna, Laurent Savale, Xavier Jaïs, Andrei Seferian, Mitja Jevnikar, Athénais Boucly, Marianne Riou, Julie Traclet, Ari Chaouat, Maryline Levy, Jerome LePavec, Elie Fadel, Frédéric Perros, Florent Soubrier, Martine Remy-Jardin, Olivier Sitbon, Damien Bonnet, Marc HumbertHôpitaux de Paris, Université Paris-Saclay, Hôpital Marie Lannelongue, Hôpital Pitié-Salpêtrière, Nouvel Hôpital

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Dysregulated Smooth Muscle Cell BMPR2–ARRB2 Axis Causes Pulmonary Hypertension

Lingli Wang, Jan Renier Moonen, Aigin Cao, Sarasa Isobe, Caiyun G. Li, Nancy F. Tojais, Shalina Taylor, David P. Marciano, Pi-I. Chen, Mingxia Xu, Dan Li, Rebecca L. Harper, Nesrine El-Bizri, YuMee Kim, Kryn Stankunas, Marlene RabinovitchStanford University School of Medicine, Howard Hughes Medical Institute, and Lucille Packard Children’s HospitalUnited States Circulation ResearchCirc Res 2023;

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