Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 27 of 39

Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects

Hidekazu Ishida, Jun Maeda, Keiko Uchida, Hiroyuki YamagishiOsaka University Graduate School of Medicine. Tokyo Metropolitan Children’s Medical Center. Keio University of Medicine and Health Center.Japan Journal of Cardiovascular Development and DiseaseJ Cardiovasc Dev Dis 2023; DOI: 10.3390/jcdd10080333 AbstractAlthough pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between […]

Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects Read More »

MicroRNA and lncRNA as the Future of Pulmonary Arterial Hypertension Treatment

Łukasz Wołowiec, Martyna Medlewska, Joanna Osiak, Anna Wołowiec, Elzbieta Grzésk3 , Albert Jásniak, Grzegorz GrzéskNicolaus Copernicus University.Poland International Journal of Molecular SciencesInt J Mol Sci 2023; 24: DOI: 10.3390/ijms24119735 AbstractPulmonary hypertension (PH) is characterized by a progressive increase in pulmonary arterial pressure and pulmonary vascular resistance. In a short time, it leads to right ventricular failure

MicroRNA and lncRNA as the Future of Pulmonary Arterial Hypertension Treatment Read More »

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi HamadaChiba University Hospital. Showa University School of Medicine. Hamamatsu University School of Medicine.Japan Frontiers in GeneticsFront Genet 2023; 14DOI: 10.3389/fgene.2023.1221745 AbstractMegalencephaly-capillary malformation syndrome (MCAP, OMIM # 602501) is caused by hyperactivity of the thephosphoinositide-3-kinase (PI3K)-Vakt

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome Read More »

Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome

Emily M. DeBoer, Kristine Wolter-Warmerdam, Robin R. Deterding, Juana Marmolejo, Tom Blumenthal, Joaquin M. Espinosa, Francis Hickey, Brandie D. WagnerUniversity of Colorado School of Medicine. United States Clinical PediatricsClin Pediatr 2023; DOI: 10.1177/00099228231179453 AbstractPulmonary disease, lower respiratory tract infection, and pneumonia are the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but

Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome Read More »

Single-cell transcriptomic profiling of microvascular endothelial cell heterogeneity in congenital diaphragmatic hernia

Jason O. Robertson, Peter Bazeley, Serpil C. Erzurum, Kewal AsosinghCleveland Clinic.United States Scientific ReportsSci Rep 2023; 13DOI: 10.1038/s41598-023-37050-y AbstractCongenital diaphragmatic hernia (CDH) is a neonatal anomaly that includes pulmonary hypoplasia and hypertension. We hypothesized that microvascular endothelial cell (EC) heterogeneity is different in CDH lungs and related to lung underdevelopment and remodeling. To test this, we

Single-cell transcriptomic profiling of microvascular endothelial cell heterogeneity in congenital diaphragmatic hernia Read More »

Molecular insights using spatial transcriptomics of the distal lung in Congenital Diaphragmatic Hernia

Krithika Lingappan, Oluyinka O. Olutoye II, Abiud Cantu, Manuel Eliezer Cantu Gutierrez, Nahir Cortes-Santiago, J. D. Hammond, Jamie Gilley, Joselyn Rojas Quintero, Hui Li, Francesca Polverino, Jason P. Gleghorn, Sundeep G. KeswaniChildren’s Hospital of Philadelphia. Baylor College of Medicine and Texas Children’s Hospital. University of Delaware. United States American Journal of Physiology Lung Cellular and

Molecular insights using spatial transcriptomics of the distal lung in Congenital Diaphragmatic Hernia Read More »

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Read More »

PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced Apoptosis of Pulmonary Artery Endothelial Cells

Yujing Zhao, Juan Wu, Shuai Guan, Ting Xue, Xiaolei Wei, Dawei Cao, Pengzhou Kong, Xinri ZhangThe First Hospital of Shanxi Medical University. The First People’s Hospital of Datong.China International Journal of Chronic Obstructive Pulmonary DiseaseInt J Chron Obstruct Pulmon Dis 2023; 18: 1319-1332DOI: 10.2147/COPD.S406453 AbstractPurpose: Pulmonary artery hypertension (PAH) is a common complication of chronic obstructive pulmonary

PIF1 Promotes Autophagy to Inhibit Chronic Hypoxia Induced Apoptosis of Pulmonary Artery Endothelial Cells Read More »

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Carrie L. Welch, Micheala A. Aldred, Scrimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Graf, Arjan C. Houweling, Rajiv D. Machado, Divya Pandya, Matina Prapa, Memoona Shaukat, Laura Southgate, Jair Tenorio-Castano, ClinGen PH VCEP, Wendy K. Chung, and Multiple Collaborators. International Consortium for Genetic Studies in Pulmonary Hypertension at the Pulmonary Vascular Research InstituteMultiple InstitutionsMultiple

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension Read More »