Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

Authors: Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica R.C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson

Source: JCI Insight, Vol 8, Iss 9 (2023)

Subject Terms: Cardiology, Genetics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/dbb1621c63f0402d899d8812942cb9d1

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Authors: Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky

Source: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)

Subject Terms: Malate dehydrogenase, MDH2, Mitochondrial malate dehydrogenase, TCA cycle, Epileptic encephalopathy, Leigh syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692200091X; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/0c442fea3131425d94111374d304a8a9

Evaluation of Vascular Control Mechanisms Utilizing Video Microscopy of Isolated Resistance Arteries of Rats

Authors: Kathleen M. Lukaszewicz, author¹, Matthew J. Durand, author², Jessica R.C. Priestley, author³, James R. Schmidt, author⁴, L. Adrienne Allen, author⁵, Aron M. Geurts, author³, Julian H. Lombard, author³

Source: Journal of Visualized Experiments. (130)

Availability: http://www.jove.com/video/56133