Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 24 of 39

Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn

Jessica Jin, Paula Rothämel, Johanna Büchel, Birgit Kammer, Theresa Brunet, Joseph Pattathu, Andreas W. Flemmer, Claudia Nussbaum, Sebastian SchroepfDr. von Hauner Children’s Hospital, University Hospital and Ludwig-Maximilians-Universität. University Hospital and Technical University of Munich. Germany Frontiers in PediatricsFront Pediatr 2024;DOI: 10.3389/fped.2023.1329404 AbstractIntroduction: Persistent pulmonary hypertension of the newborn (PPHN) is a life-threatening condition characterized by hypoxemia due […]

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Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M. A. Jansen, Harm J. Bogaard, AhoI lgun, Mariëlle Alders, Karin Y. van Spendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias GrieseAmsterdam University Medical Centre. Dr. von

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Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension

Yi- Yin Tai, Qiujun Yu, Ying Tang, Wei Sun, Neil J. Kelly, Satoshi Okawa, Jingsi Zhao, Tae- Hwi Schwantes-An, Caroline Lacoux, Stephanie Torrino, Yassmin Al Aaraj, Wadih El Khoury, Vinny Negi, Mingjun Liu, Catherine G. Corey, Frances Belmonte, Sara O. Vargas, Brian Schwartz, Bal Bhat, B. Nelson Chau, Jason H. Karnes, Taijyu Satoh, Robert J.

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Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children

Helio V. Neves da Silva, Jason P. Weinman, Erin K. Englund, Robin R. Deterding, D. Dunbar Ivy, Lorna P. BrowneChildren’s Hospital Colorado and University of Colorado School of Medicine, Anschutz Medical Campus. Highland Hospital. United States Pediatric RadiologyPediatr Radiol 2024;DOI: 10.1007/s00247-023-05848-7 AbstractBackground: Mutations in the T-Box 4 (TBX4) gene are a lesser-known cause of heritable pulmonary arterial

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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant

Beatrice Desnous, Guillaume Carles, Florence Riccardi, Nathalie Stremler, Melissa Baravalle, Fedouah El-Louali, Benoit Testud, Mathieu MilhTimone Enfant, APHM. Sainte Musse Hospital. Aix-Marseille University. France Prenatal DiagnosisPrenat Diagn 2023;DOI: 10.1002/pd.6505 AbstractBackground: Most periventricular nodular heterotopias (PNHs) are associated with a mutation in the filamin A (FLNA) gene in Xq28. This condition is associated with cardiovascular malformations, connective tissue

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LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17

Tariq Al Jabry, Nadia Al-Hashmi, Basem Abdelhadi, Almundher Al-MaawaliSultan Qaboos University Hospital. Royal Hospital.Oman European Journal of Medical GeneticsEir J Med Genet 2023;DOI: 10.1016/j.ejmg.2023.104903 AbstractLRP4 is expressed in many organs. It mediates SOST-dependent inhibition of bone formation and acts as an inhibitor of WNT signaling. It is also a postsynaptic end plate cell surface receptor at

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Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome

Aaron R. Prosnitz, Jane Leopold, Mira Irons, Kathy Jenkins, Amy E. RobertsBoston Children’s Hospital. Brigham and Women’s Hospital. American Board of Medical Specialties.United States Congenital Heart DiseaseCongenit Heart Dis 2017; 12: 475-483DOI: 10.1111/chd.12471 AbstractObjective: To describe a group of children with co-incident pulmonary vein stenosis and Smith-Lemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis

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The novel roles of YULINK in the migration, proliferation and glycolysis of pulmonary arterial smooth muscle cells: implications for pulmonary arterial hypertension

Yi‑Chia Wu, Wei‑Ting Wang, Ming‑Chun Yang, Yu‑Tsun Su, Jwu‑Lai Yeh, Jong‑Hau Hsu, Jiunn‑Ren WuKaohsiung Medical University Hospital and Kaohsiung Medical University. Kaohsiung Municipal Ta-Tung Hospital. E-Da Hospital and I-Shou University.Taiwan Biological ResearchBiol Res 2023; DOI: 10.1186/s40659-023-00480-z AbstractBackground: Abnormal remodeling of the pulmonary vasculature, characterized by the proliferation and migration of pulmonary arterial smooth muscle cells (PASMCs) along

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Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Przemyslaw Szafranski, Silvia Patrizi, Thomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A. Karolak, Gail Deutsch, Drucilla Roberts, Pawel StankiewiczBaylor College of Medicine. Brigham and Women’s Hospital, Newton-Wellesley Hospital and Harvard Medical School. Warsaw University of Technology. Massachusetts General Hospital. Poznan University of Medical Sciences. University of Washington School of Medicine.United States and Poland Pediatric and

Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report Read More »