Genetic Factors Associated With Pulmonary Vascular Disease

Mixed effects of complement in a chronic murine model of inflammatory erosive arthritis and pulmonary vascular disease

Kiana L. Chen, Stacey Duemmel, Michael Christof, Gaochan Wang, H. Mark Kenney, Marc Nuzzo, Qingfu Xu, Benjamin Korman, Homaira RahimUniversity of Rochester Medical Center. United States Public Library of Science OnePLOS One 2026; 21: DOI: 10.1371/journal.pone.0340677 AbstractComplement’s role in the pathology of rheumatoid arthritis and pulmonary hypertension (PH) is not fully understood. We aimed to determine […]

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Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension

Carrie L. Welch , Meriel McEntagart, Shahin Moledina, Cara Morgan, Emilia Swietlik, Chao Hou, Lu Qiao, Emily Callejo, Savanna Craib, Damian Smedley, Emilia K. Bijlsma, Patrice Bouvagnet, Nahir Cortes-­Santiago, Tamir Dagan, Jacqueline Eason, Frances Flinter, Aakash Joshi, Jeremie Mortreux, Fadel E. Ruiz, Deborah Shears, Celia Azevedo Soares, Nidhy P. Varghese, Wendy K ChungBoston Children’s Hospital,

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Successful bridge to diagnosis: Extracorporeal life support in generalized arterial calcification of infancy

Sarah D. King, Spencer Wilhelm, Ruth Lewit, Erin E. Perrone, Arul ThirumoorthiUniversity of Michigan,.United States PerfusionPerfusion 2026; DOI: 10.1177/02676591261420652 AbstractIntroduction: Generalized arterial calcification of infancy (GACI) is a rare, difficult to recognize, autosomal recessive disorder with high neonatal mortality due to vascular calcification and cardiopulmonary collapse.Case Report: We report a term female presenting with persistent pulmonary

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Long Non-Coding RNA MALAT1 Regulates HMOX1 in Sickle Cell Disease-Associated Pulmonary Hypertension

Viranuj Sueblinvong, Sarah S. Chang, Jing Ma, David R. Archer, Solomon Ofori-Acquah, Roy L. Sutliff, Changwon Park, C. Michael Hart, Benjamin T. Kopp, Bum-Yong KangEmory University School of Medicine. Atlanta Veterans Affairs Healthcare System. National Institutes of Health. Louisiana State University Health Science Center. United States CellsCells 2026; 15: DOI: 10.3390/cells15020154 AbstractPulmonary hypertension (PH) causes morbidity

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Refractory Peripheral Pulmonary Stenosis and Severe Pulmonary Arterial Hypertension Associated With a De Novo Loss-of-Function Variant in FGD5

Lea C. Steffes, Gregory T. Adamson, Kyla E. Dunn, Jeffrey A. FeinsteinLucile Salter Packard Children’s Hospital and Stanford University School of Medicine. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70250 AbstractWe report a novel genetic variant in a patient with treatment-resistant peripheral pulmonary artery stenosis (PPS) and progressive pulmonary arterial hypertension (PAH). A premature infant

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A Novel Heterozygous STING1 Point Mutation Causes Pulmonary Arterial Hypertension in Children: A Case Report

Lianmei Chen, Chang Peng, Li Wang, Shuqi Wu, Ting TangGuizhou Children’s Hospital and Affiliated Hospital of Zunyi Medical University.China Pediatric PulmonologyPediatr Pulmonol 2026; 61:DOI: 10.1002/ppul.71474 AbstractAbstract Not Available CategoryGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication Article Access Free

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Histone deacetylase 3 promotes hypoxia-induced human pulmonary arterial smooth muscle cell proliferation by modulating the CSF2-JAK2-STAT5 signaling pathway

Jie Zhang, Youfei Fan, Yanting Gao, Youpeng JinShandong Provincial Hospital and Second Affiliated Hospital Affiliated to Shandong First Medical University. China Human CellHum Cell 2026; 39: DOI: 10.1007/s13577-026-01348-6 AbstractThe growth of human pulmonary arterial smooth muscle cells (hPASMCs) is one of the key contributors to vascular remodeling in pulmonary arterial hypertension (PAH). Although histone deacetylase 3

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Genetic Predisposition to High-Altitude Pulmonary Edema

Christina A. Eichstaedt, Heimo Mairbäurl, Jie Song, Nicola Benjamin, Christine Fischer, Christoph Dehnert, Kai Schommer, Marc M. Berger, Peter Bärtsch, Ekkehard Grünig, Katrin HinderhoferUniversity Hospital Heidelberg and Heidelberg University. Second Xiangya Hospital and Central South University. Medbase Checkup Center. University Hospital Salzburg and Paracelsus Medical University.Germany, China, Switzerland and Austria High Altitude Medicine and BiologyHigh Alt Med Biol 2020; 21: 28-36DOI: 10.1089/ham.2019.0083 AbstractBackground: Exaggerated pulmonary arterial hypertension (PAH) is a hallmark of high-altitude pulmonary edema (HAPE).

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Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes

Anthony G. DurmowiczUniversity of Utah Health Science Center and Primary Children’s Medical Center.United States PediatricsPediatrics 2001; 108: 443-447DOI: 10.1542/peds.108.2.443 AbstractObjective: Children with Down syndrome (DS) are living longer and are increasingly participating in recreational activities. When a child with DS was diagnosed with high-altitude pulmonary edema (HAPE), this study was undertaken to determine whether and under what

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Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism: Case Report and Review of the Literature

Virginia Mirra, Margherita Rosa, Cristina Fontanella, Martina Mancuso, Fabio Antonelli, Alice Castaldo, Annalisa Allegorico, Maria Giovanna Russo, Mario Giordano, Alfonsina Tirozzi, Paolo Siani, Daniele De Bras“Santobono-Pausilipon” Children’s Hospital. University of Naples Federico II. AORN Santobono-Pausilipon. University of Campania “Luigi Vanvitelli” and “Ospedali dei Colli”. Italy ChildrenChildren 2025; 12: DOI: 10.3390/children12121701 AbstractHereditary Hemorrhagic Telangiectasia (HHT), also known

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