Genetic Factors Associated With Pulmonary Vascular Disease

Molecular Function and Contribution of TBX4 in Development and Disease

Justyna A. Karolak, Carrie L. Welch, Christian Mosimann, Katarzyna Bzdega, James D. West, David Montani, Melanie Eyries, Mary P. Mullen, Steven H. Abman, Matina Prapa, Stefan Graf, Nicholas W. Morrell, Anna R. Hemnes, Frederic Perros, Rizwan Hamid, Malcolm P. O. Logan, Jeffrey Whitsett, Csaba Galambos, Pawel Stankiewicz, Wendy K. Chung, Eric D. AustinMultiple InstitutionsPoland, France, […]

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Egln1Tie2Cre Mice Exhibit Similar Therapeutic Responses to Sildenafil, Ambrisentan, and Treprostinil as Pulmonary Arterial Hypertension (PAH) Patients, Supporting Egln1Tie2Cre Mice as a Useful PAH Model

Yi Peng, Jingbo Dai, You-Yang ZhaoAnn and Robert H. Lurie Children’s Hospital of Chicago. Northwestern University Feinberg School of Medicine. United States International Journal of Molecular SciencesInt J Mol Sci 2023; 24: DOI: 10.3390/ijms24032391 AbstractPulmonary arterial hypertension (PAH) is a progressive and inevitably fatal disease characterized by the progressive increase of pulmonary vascular resistance and obliterative

Egln1Tie2Cre Mice Exhibit Similar Therapeutic Responses to Sildenafil, Ambrisentan, and Treprostinil as Pulmonary Arterial Hypertension (PAH) Patients, Supporting Egln1Tie2Cre Mice as a Useful PAH Model Read More »

Comparative transcription profiling of mRNA and lncRNA in pulmonary arterial hypertension after C75 treatment

Cuilan Hou, Lijian Xie, Tingxia Wang, Junmin Zheng, Yuqi Zhao, Qingzhu Qiu, Yi Yang, Tingting XiaoShanghai Children’s Hospital and Shanghai Jiao Tong University. NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology. Jin Shan Hospital and Fudan University. The Children’s Hospital and Zhejiang University School of Medicine. China BioMed Central Pulmonary MedicineBMC Pulm Med

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Functional and molecular determinants of right ventricular response to severe pulmonary hypertension in a large animal model

R. Dale Brown, Kendall S. Hunter, Min Li, Maria G. Frid, Julie Harral, Greta M. Krafsur, Timothy N. Holt, Jason Williams, Hui Zhang, Suzette R. Riddle, Michael G. Edwards, Sushil Kumar, Cheng-Jun Hu, Brian B. Graham, Lori A. Walker, Franklyn B. Garry, Peter M. Buttrick, Tim Lahm, Vitaly O. Kheyfets, Kirk C. Hansen, Kurt R.

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Multiomics endotyping of preterm infants with bronchopulmonary dysplasia and pulmonary hypertension-A pilot study

Roopa Siddaiah, Christiana Oji‐Mmuo, Vincent P. R. Aluquin, Yuka Imamura Kawasawa, Ann Donnelly, Dustin Rousselle, Nathalie Fuentes, Eric D. Austin, Patricia SilveyraPenn State Health and Children’s Hospital. Indiana University School of Public Health. Vanderbilt University.United States Pulmonary CirculationPulm Circ 2023; 13: DOI: 10.1002/pul2.12232 Abstract Pulmonary hypertension associated with bronchopulmonary dysplasia is a severe complication of preterm

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RASA3 is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension

Clare C. Prohaska, Xu Zhang, Tae‐Hwi L. Schwantes‐An, Robert S. Stearman, Stanley Hooker, Rick A. Kittles, Micheala A. Aldred, Katie A. Lutz, Michael W. Pauciulo, William C. Nichols, Ankit A. Desai, Victor R. Gordeuk, Roberto F. MachadoIndiana University. University of Illinois at Chicago. City of Hope. Morehouse School of Medicine. Cincinnati Children’s Hospital Medical Center

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Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study

Jessie W. Swarts, Lotte E. R. Kleimeier, Erika K. S. M. Leenders, Tuula Rinne, Willemijn M. Klein, Jos M. T. DraaismaAmalia Children’s Hospital, Radboud Institute for Health Sciences and Radboud University Medical CenterNetherlands American Journal of Medical Genetics AAm J Med Genet A 2022; 188: 3242-3261DOI: 10.1002/ajmg.a.62955 AbstractNoonan syndrome (NS) has been associated with an increased

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Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A. Secker, Anna Oszmiana, Milena Babic, Kelly L. Betterman, Peter J. Brautigan, Melissa White, Sandra G. Piltz, Paul Q. Thomas, Christopher N. Hahn, Matthias Rath, Ute Felbor, G. Christoph Korenke, Christopher L. Smith, Kathleen H. Wood, Sarah E. Sheppard, Denise M. Adams,

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema Read More »

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

C. C. Pieper, J. Wagenpfeil, A. Henkel, S. Geiger, T. Köster, K. Hoss, J. A. Luetkens, C. Hart, U. I. Attenberger, A. MüllerUniversity of Bonn and Children’s Hospital.Germany Scientific ReportsSci Rep 2022; 12: DOI: 10.1038/s41598-022-13806-w AbstractNoonan syndrome is associated with complex lymphatic abnormalities. We report dynamic-contrast enhanced MR lymphangiography (DCMRL) findings in children and adults with

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Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy

Lotte E. R. Kleimeier, Carolinevan Schaik, Erika Leenders, Maxim Itkin, Willemijn M. Klein, Jos M. T. DraaismaRadboudumc Amalia Children’s Hospital and Radboud University Medical Center. University of Pennsylvania.Netherlands and United States Journal of Clinical MedicineJ Clin Med 2022; 11: DOI: 10.3390/jcm11113128 AbstractDysregulation of the Ras/Mitogen-activated protein kinase (MAPK) signaling pathway is suggested to play a pivotal

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