Cardiac-specific deletion of voltage dependent anion channel 2 leads to dilated cardiomyopathy by altering calcium homeostasis

Autor: Thirupura S. Shankar, Dinesh K. A. Ramadurai, Kira Steinhorst, Salah Sommakia, Rachit Badolia, Aspasia Thodou Krokidi, Dallen Calder, Sutip Navankasattusas, Paulina Sander, Oh Sung Kwon, Aishwarya Aravamudhan, Jing Ling, Andreas Dendorfer, Changmin Xie, Ohyun Kwon, Emily H. Y. Cheng, Kevin J. Whitehead, Thomas Gudermann, Russel S. Richardson, Frank B. Sachse, Johann Schredelseker, Kenneth W. Spitzer, Dipayan Chaudhuri, Stavros G. Drakos

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

The authors found that VDAC2 plays a crucial role in influencing mitochondrial calcium dynamics and cellular calcium signalling. A VDAC2 agonist, efsevin, rescued the heart failure phenotype, identifying a new potential therapeutic target for heart f

Externí odkaz: https://doaj.org/article/5def0b8a41bf407088eed68a7df3942d

Cardiac-specific deletion of voltage dependent anion channel 2 leads to dilated cardiomyopathy by altering calcium homeostasis

Autor: Rachit Badolia, Salah Sommakia, Aishwarya Aravamudhan, Aspasia Thodou Krokidi, Dipayan Chaudhuri, Thomas Gudermann, Paulina Sander, Kira Steinhorst, Ohyun Kwon, Stavros G. Drakos, Dinesh K. A. Ramadurai, Kenneth W. Spitzer, Sutip Navankasattusas, Andreas Dendorfer, Frank B. Sachse, Jing Ling, Emily H. Cheng, Thirupura S. Shankar, Johann Schredelseker, Dallen Calder, Kevin J. Whitehead, Changmin Xie, Oh Sung Kwon, Russel S. Richardson

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications

Voltage dependent anion channel 2 (VDAC2) is an outer mitochondrial membrane porin known to play a significant role in apoptosis and calcium signaling. Abnormalities in calcium homeostasis often leads to electrical and contractile dysfunction and can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d495aa6c7828ba2d150d39fc03e980
https://doaj.org/article/5def0b8a41bf407088eed68a7df3942d

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

Autor: Justin P. McWilliams, Miles Conrad, Mary Porteous, Mary E. Meek, James R. Gossage, Jay F. Piccirillo, Masaki Komiyama, Elisabetta Buscarini, Carlo Sabbà, Andrea Lausman, Paul J. Rochon, Ketil Heimdal, Rose Pantalone, Claire L. Shovlin, Valerie A. Palda, Hanny Al-Samkari, Kevin Korenblatt, Marianne S. Clancy, Jamie McDonald, Katharine J. Henderson, Marie E. Faughnan, Claudia Crocione, Steven W. Hetts, Erik Deslandres, Urban W. Geisthoff, Ingrid Winship, Els de Gussem, Vivek N. Iyer, Daniel Cortes, Sophie Dupuis-Girod, Beth Plahn, Kelly Lang-Robertson, Patrick Foy, Mark S. Chesnutt, Ivan Radovanovic, Anette Drøhse Kjeldsen, Felix Ratjen, Johannes J. Mager, Carol Derksen, Adrienne M. Hammill, Sara Palmer, Marcelo M. Serra, Jack McMahon, Josanna Rodriguez-Lopez, Andrew J. White, Roberto Zarrabeitia, Raj S. Kasthuri, Marco C. Post, Jama M. Darling, Scott E. Olitsky, Dennis L. Sprecher, Murali M. Chakinala, Kevin J. Whitehead, David M. Poetker, Meir Mei-Zahav

Publikováno v: Faughnan, M E, Mager, J J, Hetts, S W, Palda, V A, Lang-Robertson, K, Buscarini, E, Deslandres, E, Kasthuri, R S, Lausman, A, Poetker, D, Ratjen, F, Chesnutt, M S, Clancy, M, Whitehead, K J, Al-Samkari, H, Chakinala, M, Conrad, M, Cortes, D, Crocione, C, Darling, J, de Gussem, E, Derksen, C, Dupuis-Girod, S, Foy, P, Geisthoff, U, Gossage, J R, Hammill, A, Heimdal, K, Henderson, K, Iyer, V N, Kjeldsen, A D, Komiyama, M, Korenblatt, K, McDonald, J, McMahon, J, McWilliams, J, Meek, M E, Mei-Zahav, M, Olitsky, S, Palmer, S, Pantalone, R, Piccirillo, J F, Plahn, B, Porteous, M E M, Post, M C, Radovanovic, I, Rochon, P J, Rodriguez-Lopez, J, Sabba, C, Serra, M, Shovlin, C, Sprecher, D, White, A J, Winship, I & Zarrabeitia, R 2020, ' Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia ', Annals of Internal Medicine, vol. 173, no. 12, pp. 989-1001 . https://doi.org/10.7326/M20-1443

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and comp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ee4994475518c545cc94de43b382bf
https://doi.org/10.7326/m20-1443

Cavernous Malformation Hemorrhagic Presentation at Diagnosis Associated with Low 25-Hydroxy-Vitamin D Level

Autor: Shivram Kumar, Giuseppe Lanzino, Ravinder J. Singh, Kelly D. Flemming, Lauren McCreath, Kevin J. Whitehead, Robert D. Brown

Publikováno v: Cerebrovascular Diseases. 49:216-222

Background: Cavernous malformations (CM) are angiographically occult vascular malformations that may be incidental or present with intracerebral or spinal hemorrhage, seizures, or nonhemorrhagic focal neurologic deficit (FND). Recently in vitro data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e461281f38885ea4414ed198d63d5c9
https://doi.org/10.1159/000507789

Choroidal melanoma with synchronous Fuchs' adenoma and novel ATRX mutation

Autor: Elli Harford, Jane M. Palmer, William J. Glasson, Sunil K. Warrier, Kevin J. Whitehead, Kelly M. Brooks, Peter A. Johansson, Nicholas K. Hayward, Lindsay A. McGrath

Publikováno v: International journal of retina and vitreous. 8(1)

Background To report a case of Fuchs’ adenoma occurring in an eye with a large choroidal melanoma. We have reviewed the literature to describe the clinical presentation, ultrasound characteristics and pathological features of these entities. Case p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365bd89ed3d7bcae42399755095d2e82
https://pubmed.ncbi.nlm.nih.gov/35365243