Genetic Factors Associated With Pulmonary Vascular Disease

Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant

Elizabeth H. Ketchum, Charles L. Groomes, Alexis N. Ghersi, Brian B. Graziose, Sharen C. Wilson, Sidney E. Zven, Rebecca L. Hicks, William A. Langley, Michael A. Reott Jr,. John P. Schacht, Elizabeth V. Schulz, Jerri CurtisUniformed Services University. Walter Reed National Military Medical Center. MNG Laboratories.United States Clinical Case ReportsClin Case Rep 2024; 12: DOI: 10.1002/ccr3.9082 […]

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Female Fibroblast Activation Is Estrogen-Mediated in Sex-Specific 3D-Bioprinted Pulmonary Artery Adventitia Models

Mikala C. Mueller, Rachel Blomberg, Alicia E. Tanneberger, Duncan Davis-Hall, Keith B. Neeves, Chelsea M. MaginUniversity of Colorado. United States American Chemical Society Biomaterials Science and EngineeringACS Biomater Sci Eng 2025; DOI: 10.1021/acsbiomaterials.5c00123 AbstractPulmonary arterial hypertension (PAH) is a form of pulmonary vascular disease characterized by scarring of the small blood vessels that results in reduced

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Tet Methylcytosine Dioxygenase 2 (TET2) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (PAH): Correlation With Altered Gene Expression Relevant to a Common T Cell Phenotype

Charles C. T. Hindmarch, Francois Potus, Ruaa Al-Qazazi, Benjamin P. Ott, William C. Nichols,Michael J. Rauh, Stephen L. ArcherQueen’s University. Universitaire de Cardiologie et de Pneumologie de Québec. Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine.Canada and United States Comprehensive PhysiologyCompr Physiol 2025; 15: DOI: 10.1002/cph4.70011 AbstractEpigenetic changes in gene expression due

Tet Methylcytosine Dioxygenase 2 (TET2) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (PAH): Correlation With Altered Gene Expression Relevant to a Common T Cell Phenotype Read More »

MicroRNA-210 Mediates Hypoxic Pulmonary Hypertension in the Newborn Lamb

Xiang-Qun Hu, Rui Song, Chiranjib Dasgupta, Stephen Twum-Barimah, Taiming Liu, Abu Ahmed, Shawn F. Hanson, Lubo Zhang, Arlin B. BloodLoma Linda University School of Medicine.United States HypertensionHypertension 2025; DOI: 10.1161/HYPERTENSIONAHA.124.23061 AbstractBackground: Pulmonary hypertension of the newborn is a life-threatening disorder characterized by elevated pulmonary vascular resistance due to maladaptation of the pulmonary circulation after birth. The etiology

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GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease

Yuriko Sugiura, Takahiro Ando, Hirokazu Urushiyama, Akihisa Mitani, Goh Tanaka, Kenichi Kashimada, Tomohiro Morio, Hidenori KageUniversity of Tokyo. Institute of Science Tokyo.Japan Respirology Case ReportsRespirol Case Rep 2025; 13: DOI: 10.1002/rcr2.70165 AbstractGATA2 deficiency is a rare disease caused by germline heterozygous variants. This mutation is known to cause a decrease in haematopoietic stem cells and a

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Mas1 Receptor Activation is Necessary and Sufficient to Transduce ACE2 Effect in PAH, But Ang(1-7) Alone is Insufficient

James West, Megha Talati, Erica Carrier, Anandharajan Rathinasabapathy, Ibragim Gaidarov, Benjamin Vigl, Ying Cai, Hongpeng Jia, Tom Blackwell, Santhi Gladson, Christie Moore, Sheila Shay, Ethan Sevier, Anna HemnesVanderbilt University Medical Center. Eurofins Beacon Discovery. Alterras Therapeutics. Johns Hopkins University School of Medicine.United States and Austria Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70083 AbstractACE2 has shown effectiveness

Mas1 Receptor Activation is Necessary and Sufficient to Transduce ACE2 Effect in PAH, But Ang(1-7) Alone is Insufficient Read More »

Altered maturation and activation state of circulating monocytes is associated with their enhanced recruitment in pulmonary arterial hypertension

Rebecca L. Harper, Xin Zhou, David P. Marciano, Aiqin Cao, Lingli Wang, Guibin Chen, Mir S. Adil, Wenyu Zhou, Peter Maguire, Shanthi Deivanayagam, Quan Yu, Vignesh Viswanathan, Dan Yang, Marcy Martin, Sarasa Isobe, Shoichiro Otsuki, Jordan Burgess, Audrey Inglis, Devon Kelley, Patricia A. del Rosario, Andrew Hsi, Francois Haddad, Roham T. Zamanian, Manfred Boehm, Michael

Altered maturation and activation state of circulating monocytes is associated with their enhanced recruitment in pulmonary arterial hypertension Read More »

The sonic hedgehog signaling inhibitor cyclopamine improves pulmonary arterial hypertension via regulating the bone morphogenetic protein receptor 2 pathway

Youpeng Jin, Fei Mao, Xuehui Wang, Jie Zhang, Yanting Gao, Youfei FanShandong Provincial Hospital, First Affiliated Hospital and Shandong First Medical University.China Scientific ReportsSci Rep 2025; 15: DOI: 10.1038/s41598-025-97627-7 AbstractPulmonary arterial hypertension (PAH) is a severe and progressive disease with hallmarks of pulmonary vascular remodeling and bone morphogenetic protein receptor 2 (BMPR2) mutation. Recent studies indicate

The sonic hedgehog signaling inhibitor cyclopamine improves pulmonary arterial hypertension via regulating the bone morphogenetic protein receptor 2 pathway Read More »

The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension

Fatma Hayvaci Canbeyli, Kazim Secgen, Faith Suheyl Ezgu, Gulten Tacoy, Serkan Unlu, Hidayet Ozan Arabaci, Ayhan Pektas, Asli Inci, Ergun Baris Kaya, Umit Yasar Sinan, Mehmet Serdar Kucukoglu, Serdar KulaGazi University Faculty of Medicine. Istanbul University Faculty of Medicine. Afyonkarahisar University of Health Sciences. Hacettepe University Faculty of Medicine. Turkey Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03847-z

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Complete Atrioventricular Septal Defect Repair in Patients With Down Syndrome Presenting Beyond Six Months- A Single Center Experience

Kartik Patel, Chandrasekaran Ananthanarayanan, Trushar Gajjar, Amit Mishra, Bhavik Champaneri, Jigar Surti, Himani PandyaU. N. Mehta Institute of Cardiology and Research Centre. India World Journal of Pediatric and Congenital SurgeryWorld J Pediatr Congenit Surg 2025; DOI: 10.1177/21501351251322162 AbstractBackground: Complete atrioventricular septal defect (cAVSD) is the most common cardiac lesions associated with Down syndrome (DS). In DS,

Complete Atrioventricular Septal Defect Repair in Patients With Down Syndrome Presenting Beyond Six Months- A Single Center Experience Read More »

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