Genetic Factors Associated With Pulmonary Vascular Disease

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins

G. G. Edel, M. van Kempen, A. Boerema‑de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. RottierErasmus MC-Sophia. Netherlands Journal of Biomedical ScienceJ Biomed Sci 2024; 31: DOI: 10.1186/s12929-024-01088-5 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is […]

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins Read More »

Global research landscape on the genetics of congenital heart disease: A bibliometric and visualized analysis via VOSviewer and CiteSpace

Fan Zhang, Lei Qi, Mingxue Zhao, Shuming Han, Haoran Zhang, Guangxin WangJinan Central Hospital, Shandong University. China MedicineMedicine 2024; 103: DOI: 10.1097/MD.0000000000040261 AbstractGenetic factors play a significant role in the development of congenital heart disease (CHD). Many studies on the genetics of CHD have been published worldwide; however, no research has assessed and mapped the global

Global research landscape on the genetics of congenital heart disease: A bibliometric and visualized analysis via VOSviewer and CiteSpace Read More »

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity

Giada Moresco, Ornella Rondinone, Alessia Mauri, Rita Gorgoglione, Daniela Maria Grazia Graziani, Michal Dziuback, Monica Rosa Miozzo, Silvia Maria Sirchia, Luca Pietrogrande, Angela Peron, Laura FontanaUniversità degli Studi di Milano/University of Milan. ondazione IRCCS Ca Granda Ospedale Maggiore Policlinico. ASST Santi Paolo e Carlo. Meyer Children’s Hospital IRCCS. Università degli Studi di Firenze.Italy Genes and

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity Read More »

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 »

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

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

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

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

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

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

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

GCN2 kinase activation mediates pulmonary vascular remodeling and pulmonary arterial hypertension Read More »

Scroll to Top