A seX(X/Y) Article on Marfan Syndrome

por Anderson, Nicole K., Juzwiak, Emily E., Dietz, Harry C.
Publicado 2020

Nuclear mRNA Degradation Pathway(s) Are Implicated in Xist Regulation and X Chromosome Inactivation

por Ciaudo, Constance, Bourdet, Agnès, Cohen-Tannoudji, Michel, Dietz, Harry C, Rougeulle, Claire, Avner, Philip
Publicado 2006

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

por Bai, Shaochun, Lozada, Anthony, Jones, Marilyn C., Dietz, Harry C., Dempsey, Melissa, Das, Soma
Publicado 2014

Pregnancy after Aortic Root Replacement in Marfan's Syndrome: A Case Series and Review of the Literature

por Williams, Dominique, Lindley, Kathryn J., Russo, Melissa, Habashi, Jennifer, Dietz, Harry C., Braverman, Alan C.
Publicado 2018

Association of sleep apnoea risk and aortic enlargement in Marfan syndrome

por Sowho, Mudiaga, MacCarrick, Gretchen, Dietz, Harry, Jun, Jonathan, Schwartz, Alan R, Neptune, Enid R
Publicado 2021

Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome

por Frischmeyer-Guerrerio, Pamela A., MacCarrick, Gretchen, Dietz, Harry C., Stewart, F. Dylan, Guerrerio, Anthony L.
Publicado 2020

Multi-Scale Biomechanical Remodeling in Aging and Genetic Mutant Murine Mitral Valve Leaflets: Insights into Marfan Syndrome

por Gould, Russell A., Sinha, Ravi, Aziz, Hamza, Rouf, Rosanne, Dietz, Harry C., Judge, Daniel P., Butcher, Jonathan
Publicado 2012

Massive ductal aneurysm in an asymptomatic child with Loeys-Dietz syndrome

por Siddiqui, Saira, Polanco, Antonio, DiLorenzo, Michael P, Shah, Amee, Snyder, Michael, Dietz, Harry, Bacha, Emile, Farooqi, Kanwal Majeed
Publicado 2021

Integrin Modulating Therapies Prevent Fibrosis and Autoimmunity in Genetic Mouse Models of Scleroderma

por Gerber, Elizabeth E., Gallo, Elena M., Fontana, Stefani C., Davis, Elaine C., Wigley, Fredrick M., Huso, David L., Dietz, Harry C.
Publicado 2013

Targeted Disruption of NeuroD, a Proneural Basic Helix-Loop-Helix Factor, Impairs Distal Lung Formation and Neuroendocrine Morphology in the Neonatal Lung

por Neptune, Enid R., Podowski, Megan, Calvi, Carla, Cho, Jang-Hyeon, Garcia, Joe G. N., Tuder, Rubin, Linnoila, R. Ilona, Tsai, Ming-Jer, Dietz, Harry C.
Publicado 2008

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

por Baban, Anwar, Magliozzi, Monia, Loeys, Bart, Adorisio, Rachele, Alesi, Viola, Secinaro, Aurelio, Corica, Bernadette, Vricella, Luca, Dietz, Harry C., Drago, Fabrizio, Novelli, Antonio, Amodeo, Antonio
Publicado 2018

Loeys–Dietz syndrome: a primer for diagnosis and management

por MacCarrick, Gretchen, Black, James H., Bowdin, Sarah, El-Hamamsy, Ismail, Frischmeyer-Guerrerio, Pamela A., Guerrerio, Anthony L., Sponseller, Paul D., Loeys, Bart, Dietz, Harry C.
Publicado 2014

Distinct Contribution of Global and Regional Angiotensin II Type 1a Receptor Inactivation to Amelioration of Aortopathy in Tgfbr1(M318R/+) Mice

por Bramel, Emily E., Bagirzadeh, Rustam, Saqib, Muzna, Creamer, Tyler J., Espinoza Camejo, Wendy A., Roker, LaToya Ann, Pardo Habashi, Jennifer, Dietz, Harry C., Gallo MacFarlane, Elena
Publicado 2022

Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

por Renard, Marjolijn, Trachet, Bram, Casteleyn, Christophe, Campens, Laurence, Cornillie, Pieter, Callewaert, Bert, Deleye, Steven, Vandeghinste, Bert, van Heijningen, Paula M., Dietz, Harry, De Vos, Filip, Essers, Jeroen, Staelens, Steven, Segers, Patrick, Loeys, Bart, Coucke, Paul, De Paepe, Anne, De Backer, Julie
Publicado 2014

A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome

por Doyle, Jefferson J, Doyle, Alexander J, Wilson, Nicole K, Habashi, Jennifer P, Bedja, Djahida, Whitworth, Ryan E, Lindsay, Mark E, Schoenhoff, Florian, Myers, Loretha, Huso, Nick, Bachir, Suha, Squires, Oliver, Rusholme, Benjamin, Ehsan, Hamid, Huso, David, Thomas, Craig J, Caulfield, Mark J, Van Eyk, Jennifer E, Judge, Daniel P, Dietz, Harry C
Publicado 2015

Targeting of dermal myofibroblasts through death receptor 5 arrests fibrosis in mouse models of scleroderma

por Park, Jong-Sung, Oh, Yumin, Park, Yong Joo, Park, Ogyi, Yang, Hoseong, Slania, Stephanie, Hummers, Laura K., Shah, Ami A., An, Hyoung-Tae, Jang, Jiyeon, Horton, Maureen R., Shin, Joseph, Dietz, Harry C., Song, Eric, Na, Dong Hee, Park, Eun Ji, Kim, Kwangmeyung, Lee, Kang Choon, Roschke, Viktor V., Hanes, Justin, Pomper, Martin G., Lee, Seulki
Publicado 2019

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

por Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Publicado 2017

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

por Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.
Publicado 2012

Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation

por van der Pluijm, Ingrid, Burger, Joyce, van Heijningen, Paula M, IJpma, Arne, van Vliet, Nicole, Milanese, Chiara, Schoonderwoerd, Kees, Sluiter, Willem, Ringuette, Lea-Jeanne, Dekkers, Dirk H W, Que, Ivo, Kaijzel, Erik L, te Riet, Luuk, MacFarlane, Elena G, Das, Devashish, van der Linden, Reinier, Vermeij, Marcel, Demmers, Jeroen A, Mastroberardino, Pier G, Davis, Elaine C, Yanagisawa, Hiromi, Dietz, Harry C, Kanaar, Roland, Essers, Jeroen
Publicado 2018

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

por Meester, Josephina A.N., Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., Loeys, Bart L.
Publicado 2022