Genetic Factors Associated With Pulmonary Vascular Disease

Heterogenous Disease Course and Long-Term Outcome of Children’s Interstitial Lung Disease Related to Filamin A Gene Variants

Julia Carlens, K. Taneille Johnson, Andrew Bush, Diane Renz, Ute Hehr, Florian Laenger, Claire Hogg, Martin Wetzke, Nicolaus Schwerk, Jonathan H. RaymentImperial College London and Royal Brompton Hospital. University of Regensburg. Hannover Medical School. University of British Columbia and British Columbia Children’s Hospital Research Institute.United Kingdom, Germany and Canada Annals of the American Thoracic SocietyAnn […]

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DDAH1 SNP rs480414 that protects against the development of pulmonary hypertension in bronchopulmonary dysplasia results in lower nitric oxide production in neonatal cord blood-derived lymphoblastoid cell lines

Avante D. Milton, Hanadi Almazrouea, Yi Jina, Gloria Zenderb, Jennifer K. TrittmannaAbigail Wexner Research Institute at Nationwide Children’s Hospital. Ohio State University College of Medicine. United States Journal of Neonatal and Perinatal MedicineJ Neonatal Perinatal Med 2022; 15: 113-121DOI: 10.3233/NPM-210710 AbstractBackground: Bronchopulmonary dysplasia (BPD) is chronic lung disease of prematurity and pulmonary hypertension (PH) is a major

DDAH1 SNP rs480414 that protects against the development of pulmonary hypertension in bronchopulmonary dysplasia results in lower nitric oxide production in neonatal cord blood-derived lymphoblastoid cell lines Read More »

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Rajiv D. Machado, Carrie L. Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier, John D. Coulson, Marusa Debeljak, Josef Ekstein, Jeffrey R. Fineman, William Christopher Golden, Emily L. Griffin, Charaka Hadinnapola, Michael A. Harris, Yoel Hirsch, Julie Elizabeth Hoover- Fong, Lawrence Nogee, Lewis H. Romer, Samo Vesel, NIHR Bioresource – Rare Diseases, Stefan Gräf, Nicholas W.

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality Read More »

Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer

Leah Stevens, Elizabeth Colglazier, Claire Parker, Elena K. Amin, Hythem Nawaytou, David Teitel, Vadiyala M. Reddy, Carrie L. Welch, Wendy K. Chung, Jeffrey R. FinemanUniversity of California San Francisco. Columbia University Irving Medical Center. United States Pulmonary CirculationPulm Circ 2022; 12: DOI: 10.1002/pul2.12033 AbstractDespite therapeutic advances over the past decades, pulmonary arterial hypertension (PAH) and related

Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer Read More »

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

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

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

Channelopathy Genes in Pulmonary Arterial Hypertension Read More »

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

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

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%

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

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

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

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

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

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