Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 4 of 43

The preponderance of genetic variations in paediatric pulmonary hypertension

Julien Grynblat, Melanie Eyries, Marine Ambar-Akkaoui, Marilyne Levy, Mathilde Meot, Isabelle Szezepanski, Julien Ranchoup, Alessia Callegari, Julie Karila-Cohen, Caroline Bonnet, Pierre Marijon, Jerome Champ, Florence Coulet, Caroline Ovaert, Frederic Perros, Fabrice Antigny, Pascale Maragnes, Guy Vaksmann, Marc Humbert, Sophie Guiti Malekzadeh Milani, David Montani Damien BonnetHôpital Necker-Enfants malades, AP-HP, Université de Paris Cité, Université Paris-Saclay, […]

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CES1 Deficiency is Associated With Metabolic Reprograming and Endothelial Dysfunction in Pulmonary Arterial Hypertension

Stuti Agarwal, Anuradha Bankar, Lyong Heo, Ankita Mitra, Ananya Chakraborty, Lichao Liu, Flora Huang, Gowri Swaminathan, Natasha Auer, Prakash Chelladurai, Eleana Stephanie Guardado, Juan Matos, Crystal Le, James West, Karthik Suresh, Ramesh Nair, Marlene Rabinovitch, Christophe Morisseau, Bruce D Hammock, Joseph Wu, Zolt Arany, Mark R Nicolls, Vinicio de Jesus PerezStanford Center for Genomics and

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Incidence of Newborns with Down Syndrome and Factors Associated with Their Length of Hospital Stay in Hospital Pakar Universiti Sains Malaysia

Muhammad Zul Hilmi Muhammad Zain, Ariffin Nasir, Najib Majdi Yaacob, Nor Rosidah IbrahimUniversiti Sains Malaysia. Malaysia Malaysian Journal of Medical SciencesMalays J Med Sci 2025; 32: 203-211DOI: 10.21315/mjms-10-2024-838 AbstractBackground: Down syndrome (DS) is the most common chromosomal disorder worldwide. This study aimed to analyse the incidence of newborns with DS in a tertiary centre in the East

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A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review

Cui, Xuxia, Zhong, Yajing, Yin, ChongjuanFirst Hospital of Shanxi Medical University.China MedicineMedicine 2026; 105: DOI: 10.1097/MD.0000000000048340 AbstractRationale: Cobalamin C (cblC) deficiency is one of the most common congenital vitamin B12 metabolic abnormalities, and may cause severe neurologic symptoms, gastrointestinal and nephritic symptoms.Patient concerns: A 9-month-old boy presented with a 10-day history of progressive dyspnea and weak cough, accompanied by

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review Read More »

Inflachromene attenuates monocrotaline-induced pulmonary arterial hypertension by suppressing the HMGB1-TLR4/RAGE-NF-κB signaling pathway

Yueru Wang, Dina Nuerlan, Bilali Paizula, Yimuran Kawulijiang, Jiyao Chen, Hong Zhu, Wentao Xiao, Zhayier Tueraili, Guoming ZhangFirst Affiliated Hospital of Xinjiang Medical University. Second Affiliated Hospital of Xinjiang Medical University. First Affiliated Hospital of Shihezi University.China International ImmunopharmacologyInt Immunopharmacol 2026; DOI: 10.1016/j.intimp.2026.116712 AbstractPulmonary arterial hypertension (PAH) is a debilitating and fatal cardiovascular disorder marked by

Inflachromene attenuates monocrotaline-induced pulmonary arterial hypertension by suppressing the HMGB1-TLR4/RAGE-NF-κB signaling pathway Read More »

Excessive Postnatal Smooth Muscle Differentiation in a Lung Specific Model of TBX4-related Pulmonary Hypertension

Lea C. Steffes, Kaylie A. Chiles, Sehar R. Masud, Aleen Rahman, Madeline Dawson, Csaba Galambos, Maya E. Kumar, Ripla AroraStanford University School of Medicine. Michigan State University. University of Colorado School of Medicine and Children’s Hospital Colorado.United States Journal of Clinical Investigation InsightsJCI Insights 2026; DOI: 10.1172/jci.insight.194251 AbstractHeterozygous TBX4 variants are the second most common genetic

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R213G-Mediated Redistribution of EC-SOD Protects Against Sugen-Hypoxia Pulmonary Hypertension in Mice

Daniel Colon Hidalgo, Caitlin V. Lewis, Thi‐Tina N. Nguyen, Janelle N. Posey, Samuel D. Burciaga, Nathan Dee, Christina Sul, Julie Harral, David Irwin, Cassidy Delaney, Eva S. NozikUniversity of Colorado Anschutz Medical Campus. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70307 AbstractPulmonary hypertension (PH) is a progressive and life-threatening disease characterized by pulmonary vascular remodeling

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Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease

Ophelia Entsir Dadzie, Lidia Tyszczuk, Susan E. Holder, Fernanda Teixeira, Aikaterina Charakida, Julia Scarisbrick, Anthony ChuHammersmith Hospital.United Kingdom Pediatric DermatologyPediatr Dermatol 2007; 24: 651-653DOI: 10.1111/j.1525-1470.2007.00556.x AbstractWe report a neonate with cutis marmorata telangiectatica congenita and clinical features of Adams-Oliver syndrome in association with severe pulmonary vascular disease. We provide an overview of cutis marmorata telangiectatica congenita,

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Novel KCNK3 variant in a child with pulmonary arterial hypertension

Yi-ming Zheng, Jia-qi Jiang, Xuan Li, Hong-biao Huang, Wen-yu Zhuo, Xuan Tang, Ying Liu, Hai-tao LvChildren’s Hospital of Soochow University. Fujian Provincial Hospital and Fujian Provincial Clinical College of Fujian Medical University. People’s Hospital of Qianxinan Buyi and Miao Minority Autonomous Prefecture. Jiangyin People’s Hospital. China HereditasHereditas 2026; DOI: 10.1186/s41065-026-00680-z AbstractBackground: Pathogenic variants in KCNK3 have

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