Genetic Factors Associated With Pulmonary Vascular Disease

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development

Przemyslaw Szafranski, Tomasz Gambin, Gail Deutsch, Salma A. Nassef, Mary Clay Dailey, Debra L. Kearney, Pawel StankiewiczBaylor College of Medicine and Texas Children’s Hospital. Warsaw University of Technology. University of Washington School of Medicine. United States and Poland American Journal of Medical Genetics Part AAm J Med Genet A 2024; DOI: 10.1002/ajmg.a.63936 AbstractT-box transcription factors are […]

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Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population

Chen Chen Fucheng Li, Hang Zhou, Dan Wang, Fang Fu, Qiuxia Yu, Ruibin Huang, Yan Lu, You Wang, Guilan Chen, Fei Guo, Tingying Lei, Chunlin Ma, Ru LiGuangzhou Women and Children’s Medical Center. Guangzhou Medical University. China Pediatrics and NeonatologyPediatr Neonatol 2024; DOI: 10.1016/j.pedneo.2024.06.010 AbstractObjective: This single-center retrospective study aimed to investigate the genetic factors contributing to

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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

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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

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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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