Genetic Factors Associated With Pulmonary Vascular Disease

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Esra Yıldız Bölükbaşi, Tomasz Gambin, Justyna A. Karolak, Nicholas Willard, Przemyslaw Szafranski, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł StankiewiczBaylor College of Medicine. Poznan University of Medical Sciences. Warsaw University of Technology. University of Colorado Anschutz Medical Campus.United States and Poland Molecular Genetics and Genomic MedicineMol Genet Genomic Med 2022; 10: DOI: 10.1002/mgg3.2062 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results […]

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV Read More »

Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension

Fan Yang, Dan Wang, Xuehua Zhang, Haoqin Fan, Yu Zheng, Zhenghui Xiao, Zhi Chen, Yunbin Xiao, Qiming LiuSecond Xiangya Hospital and Central South University. Hunan Children’s Hospital. Fujian Children’s Hospital and Fujian Medical University.China Frontiers in Cardiovascular MedicineFront Cardiovasc Med 2023; DOI: 10.3389/fcvm.2022.1058569 AbstractHyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome (HUPRA syndrome)

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Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?

Gabriela de Carvalho Nunes, Karl Grenier, Chelsea Maedler Kron, Thomas Kitzler, Janine El Helou, David S. Rosenblatt, Francois OlivierMcGill University Health Centre. Jewish General Hospital.Canada Neuromuscular DisordersNeuromuscul Disord 2022; 32: 512-515DOI: 10.1016/j.nmd.2022.04.010 AbstractChylothorax has been reported in rare cases of X-linked myotubular myopathy, but the pathophysiology of this association is not fully understood. We report a

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Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant

Stephanie M. Tsoi, Kirk Jones, Elizabeth Colglazier, Claire Parker, Hythem Nawaytou, David Teitel, Jeffrey R. Fineman, Roberta L. KellerUniversity of California San Francisco.United States Pulmonary CirculationPul Circ 2022; 12: DOI: 10.1002/pul2.12108 AbstractWe present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of

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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

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