Genetic Factors Associated With Pulmonary Vascular Disease

Arterial-Lymphatic-Like Endothelial Cells Appear in Hereditary Hemorrhagic Telangiectasia 2 and Contribute to Vascular Leakage and Arteriovenous Malformations

Yang Yang, Xiuju Wu, Yan Zhao, Daoqin Zhang, Li Zhang, Xinjiang Cai, Jaden Ji, Zheng Jing, Kristina I. Boström, Yucheng YaoDavid Geffen School of Medicine and University of California. Stanford University.United States CirculationCirculation 2024; DOI: 10.1161/CIRCULATIONAHA.124.070925 AbstractBackground: Arteriovenous malformations (AVMs) are characteristic of hereditary hemorrhagic telangiectasia. Loss-of-function mutations in the activin receptor-like kinase 1 (Alk1) are linked […]

Arterial-Lymphatic-Like Endothelial Cells Appear in Hereditary Hemorrhagic Telangiectasia 2 and Contribute to Vascular Leakage and Arteriovenous Malformations Read More »

ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation

Makoto Arioka, Shinji Nakamura, Katsufumi Nishioka, Kota Inoue, Yasuhiro Nakao, Yumi Miyai, Hirosuke Morita, Kosuke Koyano, Toshiki Takenouchi, Saneyuki Yasuda, Yoichi Chiba, Takashi Iwase, Masaki Ueno, Takashi KusakaKagawa University Hospital and Kagawa University. Keio University School of Medicine.Japan European Journal of Medical GeneticsEur J Med Genet 2024; DOI: 10.1016/j.ejmg.2024.104978 AbstractBohring-Opitz syndrome (BOS) is a rare disease

ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation Read More »

Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?

Stevin Lu, Lois J. Starr, Rachel A. Taylor, Anji T. YetmanCreighton Medical School. University of Nebraska Medical Center.United States American Journal of Medical Genetics Part AAm J Med Genet A 2024; DOI: 10.1002/ajmg.a.63908 AbstractCongenital pulmonary anomalies in Turner syndrome (TS) are rarely reported. Herein, we describe a female with TS who presented with emphysema in infancy

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PPARγ/ETV2 axis regulates endothelial-to-mesenchymal transition in pulmonary hypertension

Dong Hun Lee, Andrew J. Jang, Minseong Kim, Sarah S. Chang, Raham Lee, Juyoung Kim, Jing Ma, Michael J. Passineau, Raymond L. Benza, Harry Karmouty‐Quintana, Benjamin T. Kopp Roy L. Sutliff, Wilbur A. Lam, C. Michael Hart, Changwon Park, Bum‐Yong KangEmory University School of Medicine. Chonnam National University. Louisiana State University Health Science Center. Atlanta

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Metabolic gene therapy in a canine with pulmonary hypertension secondary to degenerative mitral valve disease

Michael G. Katz, Dan G. Ohad, Philip Putter, Nataly Shtraizent, Ehud Shahar, Smadar Tal, Efrat EliyahuIcahn School of Medicine at Mount Sinai. Veterinary Teaching Hospital of the Koret School of Veterinary Medicine and Hebrew University of Jerusalem. Spot On Veterinary Hospital. Senex. Frezent Biological Solutions. Tel-Hai College. Migal-Galilee Research Institute. United States and Israel Frontiers in Veterinary MedicineFront Vet Med 2024; 11: DOI: 10.3389/fvets.2024.1415030 AbstractMyxomatous

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Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki AkagawaTokyo Women’s Medical University and Adachi Medical Center. University of Toronto. Tokyo Medical and Dental University. University of Malaya. Hokkaido University Hospital. Eberhard

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A multimodal approach identifies lactate as a central feature of right ventricular failure that is detectable in human plasma

Anna Hemnes, Niki Fortune, Katie Simon, Irina A. Trenary, Sheila Shay, Eric Austin, Jamey D. Young, Evan Britain, James West, Megha TalatiVanderbilt University Medical Center and Vanderbilt University.United States Frontiers in MedicineFront Med 2024; DOI: 10.3389/fmed.2024.1387195 AbstractBackground: In PAH metabolic abnormalities in multiple pathways are well-recognized features of right ventricular dysfunction, however, prior work has focused mainly

A multimodal approach identifies lactate as a central feature of right ventricular failure that is detectable in human plasma Read More »

GCN2 kinase activation mediates pulmonary vascular remodeling and pulmonary arterial hypertension

Maggie M. Zhu, Jingbo Dai, Zhiyu Dai, Yi Peng, You-Yang ZhaoNorthwestern University Feinberg School of Medicine.United States Journal of Clinical Investigation InsightJCI Insight 2024; DOI: 10.1172/jci.insight.177926 AbstractPulmonary arterial hypertension (PAH) is characterized by progressive increase of pulmonary vascular resistance and remodeling that result in right heart failure. Recessive mutations of EIF2AK4 gene (encoding GCN2, General control

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Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection

Swathi Shenoy, Vijaya Kumar Deekshit, Swathi Sunil Rao, Prathibha Shankar Ashwini, Rathika Damodara ShenoyNITTE University Center for Science Education and Research. Doctor’s Hospital. American University of Antigua College of Medicine.India, Antigua and Barbuda Journal of Tropical PediatricsJ Trop Pediatr 2024; DOI: 10.1093/tropej/fmae030 AbstractMaternal thiamine deficiency is prevalent in low- and middle-income countries. Thiamine-responsive pulmonary hypertension (TRPHTN)

Clinical profile and thiamine transporter gene (SLC19A2 and SLC19A3) variations in infants with thiamine-responsive pulmonary hypertension and acute respiratory infection Read More »

G6pdN126D Variant Increases the Risk of Developing VEGFR (Vascular Endothelial Growth Factor Receptor) Blocker-Induced Pulmonary Vascular Disease

Christina Signoretti, Shun Matsumura, Samuel Fatehi, Melinee D’Silva, Rajamma Mathew, Francesca Cendali, Angelo D’Alessandro, S. M. Shafiqul Alam, Victor Garcia, Joseph M. Miano, Sachin A. GupteNew York Medical College. University of Colorado Anschutz Medical Campus. Medical College of Georgia at Augusta University. United States Journal of the American Medical AssociationJ Am Heart Assoc 2024; DOI: 10.1161/JAHA.123.035174 AbstractBackground: G6PD (glucose-6-phosphate-dehydrogenase) is a key enzyme in the glycolytic pathway and has been implicated in the pathogenesis of cancer

G6pdN126D Variant Increases the Risk of Developing VEGFR (Vascular Endothelial Growth Factor Receptor) Blocker-Induced Pulmonary Vascular Disease Read More »

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