Genetic Factors Associated With Pulmonary Vascular Disease

The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension

Yuan He, Qiangqiang Li, Chen Zhang, Bradley B. Keller, Yiping Shen, Hong GuBeijing Anzhen Hospital and Capital Medical University. Cincinnati Children’s Hospital Medical Center. Boston Children’s Hospital and Harvard Medical School.China and United States Respiratory ResearchRespir Res 2025; 26: DOI: 10.1186/s12931-025-03249-y AbstractObjective: This study aims to analyze the genetic characteristics, genotype-phenotype correlation and long-term prognosis of children […]

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Transcription factor EB improves hypoxic pulmonary hypertension in fetal rats by suppressing NLRP3 inflammasome activation via induction of mitophagy

Chaohong Chen, Zaoye Xie, DangAo, Yinhui Chen, Ling Liu, Chengyan LiAffiliated Hospital of Guangdong Medical University. China Scientific ReportsSci Rep 2025; 15: DOI: 10.1038/s41598-025-07068-5 AbstractPersistent pulmonary hypertension of the newborn (PPHN) represents a life-threatening cardiopulmonary condition characterized by hypoxia-driven pulmonary vascular remodeling. While transcription factor EB (TFEB), a master regulator of cellular adaptation to hypoxia, has

Transcription factor EB improves hypoxic pulmonary hypertension in fetal rats by suppressing NLRP3 inflammasome activation via induction of mitophagy Read More »

Co-development of mesoderm and endoderm enables organotypic vascularization in lung and gut organoids

Yifei Miao, Nicole M. Pek, Cheng Tan, Cheng Jiang, Zhiyun Yu, Kentaro Iwasawa, Min Shi, Daniel O. Kechele, Nambirajan Sundaram, Victor Pastrana-Gomez, Debora I. Sinner, Xingchen Liu, Ko Chih Lin, Cheng-Lun Na, Keishi Kishimoto, Min-Chi Yang, Sushila Maharjan, Jason Tchieu, Jeffrey A. Whitsett, Yu Shrike Zhang, Kyle W. McCracken, Robbert J. Rottier, Darrell N. Kotton,

Co-development of mesoderm and endoderm enables organotypic vascularization in lung and gut organoids Read More »

TNF drives aberrant BMP signaling to induce endothelial and mesenchymal dysregulation in pulmonary hypertension

M. L. Garcia-Hernandez, Javier Rangel-Moreno, Qingfu Xu, Ye Jin Jeong, Soumyaroop Bhattacharya, Ravi Misra, Stacey Duemmel, Ke Yuan, Benjamin D. KormanUniversity of Rochester Medical Center. Boston Children’s Hospital.United States Journal of Clinical Investigation InsightJCI Insight 2025; DOI: 10.1172/jci.insight.174456 AbstractThe pathobiology of pulmonary hypertension (PH) is complex and multiple cell types contribute to disease pathogenesis. We sought

TNF drives aberrant BMP signaling to induce endothelial and mesenchymal dysregulation in pulmonary hypertension Read More »

PINK1/Parkin Deficiency Enhances Vascular Remodeling and Aggravates Hypoxia-induced Pulmonary Hypertension

Rakhshinda Rehman, Paul Dieffenbach, Shamsudheen K. Vellarikkal, Alexis M. Corcoran, Leilani Pomales, Antonio Arciniegas Rubio, Kaithlin V. Zambrano Vera, Fotios Spyropoulos, Kosmas Kosmas, Hillaire Lam, Harilaos Filippakis, Mark A. Perrella, Laura E. Fredenburgh, Helen ChristouBrigham and Women’s Hospital, Harvard Medical School and Harvard University. Broad Institute. University of New England. Regeneron Pharmaceuticals Inc.United States American

PINK1/Parkin Deficiency Enhances Vascular Remodeling and Aggravates Hypoxia-induced Pulmonary Hypertension Read More »

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather

Przemyslaw Szafranski, Tomasz Gambin Michal Kadlof, Michal Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Pawel StankiewiczBaylor College of Medicine and Texas Children’s Hospital. Warsaw University of Technology. University of Warsaw. University of Washington School of Medicine. Federal University of Paraná.United States, Poland and Brazil Clinical GeneticsClin Genet 2025; DOI: 10.1111/cge.70010 AbstractSingle

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather Read More »

Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice

Caroline F. Smith, Kathy L. Ding, Gregory J. Seedorf, Csaba Galambos, Steven H. AbmanUniversity of Colorado School of Medicine. United States Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04127-5 AbstractBackground: Genetic variants in T-box transcription factor 4 (TBX4) cause pulmonary hypertension (PH); however, there are diverse phenotypes with respect to the timing and severity of disease. Previous mouse studies

Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice Read More »

Deciphering epigenetic control of Notch signaling in persistent pulmonary hypertension of the newborn

Matthew D. Durbin, David G. Tingay, Kok Lim KuaIndiana University School of Medicine. Murdoch Children’s Research Institute and University of Melbourne.United States and Australia Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04234-3 AbstractAbstract Not Available CategoryClass I. Persistent Pulmonary Hypertension of the NewbornAnimal Models of Pulmonary Vascular Disease and TherapyVascular Cell Biology and Mechanisms of Pulmonary Vascular DiseaseGenetic

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Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension

Dai-Ji Jiang, Yi-Jia Yang, Yu-Zhen Wang, Xu Zhang, Wen-Xiu, Chan, Ting-Ting Yu, Hao Chen, Hao Zhang, Yi Yan, Li-Jun FuShanghai Children’s Medical Center, National Children’s Medical Center and Shanghai Jiao Tong University School of Medicine.China International Journal of CardiologyInt J Cardiol 2025; DOI: 10.1016/j.ijcard.2025.133515 AbstractBackground: Pulmonary arterial hypertension (PAH) is a severe disease with significant genetic predisposition.

Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension Read More »

Severe Early-Onset Pulmonary Hypertension in a Six-Month-Old With Down Syndrome and Isolated Secundum Atrial Septal Defect

Fatima Abeer, Aasim Ayaz Wani, Bisma Javid, Aisha Mahmood, Gazala AndleebGovernment Medical College, Srinagar. National Institute of Technology Srinagar. India CureusCureus 2025; 17: DOI: 10.7759/cureus.84019 AbstractInfants with Down syndrome (trisomy 21) commonly present with congenital heart defects and immune dysregulation, significantly increasing the risk of early-onset pulmonary arterial hypertension (PAH). Although secundum atrial septal defects (ASDs)

Severe Early-Onset Pulmonary Hypertension in a Six-Month-Old With Down Syndrome and Isolated Secundum Atrial Septal Defect Read More »

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