Ananya Chakraborty, Abinaya Nathan, Mark Orcholski, Stuti Agarwal, Elya A. Shamskhou, Natasha Auer, Ankita Mitra, Eleana Stephanie Guardado, Gowri Swaminathan, David F. Condon, Joyce Yu, Matthew McCarra, Nicholas H. Juul, Alden Mallory, Roberto A. Guzman-Hernandez, Ke Yuan, Vanesa Rojas, Joseph T. Crossno, Lai-Ming Yung, Paul B. Yu, Thomas Spencer, Robert A. Winn, Andrea Frump, Vijaya […]
Jason O. Robertson, Serpil C. Erzurum, Kewal AsosinghCleveland ClinicUnited States American Journal of Respiratory Cell and Molecular BiologyAm J Respir Cell Mol Biol 2023; 68: 13-22DOI: 10.1165/rcmb.2022-0318PS AbstractEndothelial colony-forming cells (ECFCs) are vascular resident and circulating endothelial cell subtypes with potent angiogenic capacity, a hierarchy of single-cell clonogenic potentials, and the ability to participate in de novo blood
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,
Molecular Function and Contribution of TBX4 in Development and Disease Read More »
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
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
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
Yuna Lee, Seunghyun Lee, Saebeom Hur, Yun Soo Jeong, Dong In Suh, Jangsup Moon, Man Jin Kim, Young Hun Choi, Jung‑Eun CheonSeoul National University Hospital. Seoul National University College of Medicine. Republic of Korea Orphanet Journal of Rare DiseasesOrphanet J Rare Dis 2023; 18: DOI: 10.1186/s13023-023-02704-7 AbstractBackground: To describe the radiological features of Gorham-Stout disease (GSD) as
Andrew J. White, Itay Marmor, Kate M. Peacock, Katelin B. Nickel, Jessica Zavadil, Margaret A. OlsenSaint Louis University School of Medicine. Washington University School of Medicine.United States NeurologyNeurology 2023; DOI: 10.1212/WNL.0000000000207269 AbstractObjective: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease associated with pathogenic variants in TGF-β signaling pathway-related genes, resulting in abnormal vascular development in various organs.
S.E. Mitchell, R. P. Martin, P. Terry, S. E. Drant, D. Valle, H. Dietz, N. SobreiraJohns Hopkins University School of Medicine. Children’s Hospital of Philadelphia. United States American Journal of Medical GeneticsAm J Med Genet 2023; 191: 1250-1260DOI: 10.1002/ajmg.a.63141 AbstractArteriovenous malformations (AVM) are characterized by abnormal vessels connecting arteries and veins resulting in a disruption of
Matina Prapa, Mauro Lago-Docampo, Emilia M. Swietlik, David Montani, Melanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M. F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano-Subıas, Henning Gall, Barbara Girerd, Ignacio Hernandez-Gonzalez, Simon Holden, David Hunt, Samara M. A. Jansen, Wilhelmina Kerstjens-Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina,
