Genetic Factors Associated With Pulmonary Vascular Disease

Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies

Mathilde Gras, Gaelle Quentin-Romand, Nicole Chemaly, Giulia Barcia, KCNT1 consortium and Rima NabboutNecker Enfants Malades Hospital and Université Paris Cité. France Brain CommunicationsBrain Commun 2026; 8: DOI: 10.1093/braincomms/fcag256 AbstractThe KCNT1 gene encodes for a sodium-activated potassium channel involved in neuronal excitability. Since its initial description in 2012 in patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) […]

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Reduced KLF4 expression in endothelial cells triggers pulmonary vascular abnormalities associated with experimental congenital diaphragmatic hernia

Heleen M. Kool, Petra E. Bürgisser, Gabriela G. Edel, Anne Boerema-de Munck, Marjon Buscop-van Kempen, Panagiotis Liakopoulos, Petros Kolovos, Wilfred F. J. Ijcken, Robbert J. RottierSophia Children’s Hospital. Erasmus Medical Center. Democritus University of Thrace. Netherlands and Greece Cellular and Molecular Life SciencesCell Mol Life Sci 2026; DOI: 10.1007/s00018-026-06319-6 AbstractCongenital diaphragmatic hernia (CDH) is a rare

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A large animal model of heritable pulmonary arterial hypertension using gene-edited BMPR2 sheep

Sanjeev A. Datar, Nicholas Werry, Austin R. Brown, Devon S. Fitzpatrick, Oluwafemi Falade, Josephine F. Trott, Rachel Hutchings, Elena K. Amin, Jessica M. Morgan, Hythem Nawaytou, Gail H. Deutsch, Eric G. Johnson, Omar A. Gonzales Viera, Thomas F. Bishop, Tara Urbano Beach, Bret R. McNabb, Eric D. Austin, Jeffrey R. Fineman, Alison L. Van EenennaamUniversity

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Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort

Diana Marangu-Boore, Katherine Myint-Hpu, Esther Kang, Luigi D. Notarangelo, Ottavia M. DelmonteNational Institutes of Health. University of Nairobi. United States and Kenya Journal of Clinical ImmunologyJ Clin Immunol 2026; DOI: 10.1007/s10875-026-02044-8 AbstractPurpose: Bronchiectasis poses a serious but incompletely defined burden in patients with inborn errors of immunity (IEI). We determined its prevalence, independent predictors, and cardiopulmonary complications

Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort Read More »

Alveolar capillary dysplasia with misalignment of pulmonary veins in neonates: a multicenter cohort study

Prithvi Sendi, Paul Martinez, Kaitlin Kobaitri, Balagangadhar R. TotapallyNicklaus Children’s Hospital. Herbert Wertheim College of Medicine and Florida International University.United States Pediatric ResearchPediatr Res 2026; DOI: 10.1038/s41390-026-05265-0 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder associated with high neonatal mortality. We aimed to describe the epidemiology, resource utilization, and

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Alveolar Capillary Dysplasia With Misaligned Pulmonary Veins (ACDMPV): Description of Two Cases and Literature Review

Eleanora Guasti, Giacomo Tardini, Silvia Buratti, Chiara Campone, Erika Alboreto, Martino Cheli, Francesca Faravelli, Daniela Pirlo, Andrea MoscatelliUniversity of Genoa. IRCCS Istituto Giannina Gaslini. Italy Pediatric PulmonologyPediatr Pulmonol 2026; 61: DOI: 10.1002/ppul.71704 AbstractIntroduction: Alveolar capillary dysplasia with misaligned pulmonary veins (ACDMPV) is one of the major causes of neonatal interstitial lung disease, causing persistent pulmonary hypertension (PH)

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An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension

Abdullah Aldalaan, Seba Nadeef, Ebtissal Khouj, Fayez Alahmadi, Bayan Aljamal, Noura Alturaif, Nadeen Alharbi, Firdous Abdulwahab, Mashael Alqahtani, Fatima Alzubi, Omar Abuyousef, Mais O. Hashem, Hamdiah Zaytoun, Hanadi Alhamoud, Tarfa Alshidi, Amal Jaafar, Lama Alabdi, Fowzan S. AlkurayaKing Faisal Specialist Hospital and Research Center. Lifera Omics.Saudi Arabia Clinical GeneticsClin Genet 2026; DOI: 10.1111/cge.70191 AbstractGrowth differentiation factor

An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension Read More »

Contemporary Endothelial Genome Editing Technologies: Towards Precision Genetic Medicine for Vascular Diseases

You-Yang Zhou, Colin E. EvansAnn and Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine. United States International Journal of Molecular SciencesInt J Mol Sci 2026; 27: DOI: 10.3390/ijms27115100 AbstractEndothelial dysfunction is a key characteristic of many diseases, including atherosclerosis, hypertension, heart failure, stroke, cancer, acute respiratory distress syndrome (ARDS), peripheral

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Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report

C. Noah Nilsson, Othman A. Aljohani, Michael A. Smith, Rachelle Durand, Inger Norlyk Sheyanth, Hythem Nawaytou, Elliot Stieglitz, Russel Valle, Sanjeev A. DatarUniversity of California San Francisco. Copenhagen University Hospital. United States and Denmark Clinical Case ReportsClin Case Rep 2026; 14:DOI: 10.1002/ccr3.72831 AbstractThis case describes a female infant with RAF1-related Noonan syndrome who developed severe hypertrophic obstructive

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report Read More »

Interferon receptor gene dosage differentially regulates hypoxia-induced platelet activation and pulmonary hypertension in Down syndrome

Janelle N. Posey, Mariah Jordan, Amanda Olsen-Dufour, Thi-Tina N. Nguyen, Christine Farrell, Caitlin V. Lewis, Jamie L. Archambault, Christina Sul, Daniel Colon-Hidalgo, Eva S. Nozik, Joaquin M. Espinosa, Kelly D. Sullivan, Cassidy DelaneyUniversity of Colorado Anschutz. United States Frontiers in ImmunologyFront Immunol 2026; DOI: 10.3389/fimmu.2026.1832057 AbstractTrisomy 21 (T21) results in Down syndrome (DS), a condition associated

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