Genetic Factors Associated With Pulmonary Vascular Disease

Pulmonary arteriovenous malformation in children

Audrey Y. L. Lim, Felix RatjenHospital for Sick Children and University of Toronto.Canada Pediatric PulmonologyPediatr Pulmonol 2024; DOI: 10.1002/ppul.27354 AbstractPulmonary arteriovenous malformations (PAVMs) are rare abnormalities observed mainly in children with hereditary haemorrhagic telangiectasia (HHT). A majority of patients are asymptomatic at the time of detection. However, complications such as hypoxemia, stroke, cerebral abscess and massive […]

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CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia

Sajeth Dinakaran, Sima Qutaina, Haitian Zhao, Yuefeng Tang, Zhimin Wang, Santiago Ruiz, Aya Nomura-Kitabayashi, Christine N. Metz, Helen M. Arthur, Stryder M. Meadows, Lionel Blanc, Marie E. Faughnan, Philippe MarambaudFeinstein Institutes for Medical Research and Northwell Health. Donald and Barbara Zucker School of Medicine at Hofstra/Northwell. Institut Pasteur de Montevideo. Newcastle University. Tulane University. Cohen

CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia Read More »

Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia

Lauren A. Beslow, Helen Kim, Steven W. Hetts, Felix Ratjen, Marianne S. Clancy, James R. Gossage, Marie E. FaughnanChildren’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania. University of California San Francisco. Hospital for Sick Children and University of Toronto. Cure HHT Foundation. Augusta University. St. Michael’s Hospital.United States and

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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

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

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 »

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