Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Matthew, Might"'
Autor:
Arun Jyothidasan, Sini Sunny, Asokan Devarajan, Aniqa Sayed, John Kofi Afortude, Brian Dalley, Vivek Nanda, Steven Pogwizd, Silvio H. Litovsky, Joel D. Trinity, Matthew Might, Namakkal S. Rajasekaran
Publikováno v:
Redox Biology, Vol 75, Iss , Pp 103263- (2024)
The endoplasmic reticulum (ER) regulates protein folding and maintains proteostasis in cells. We observed that the ER transcriptome is impaired during chronic reductive stress (RS) in cardiomyocytes. Here, we hypothesized that a prolonged moderate tr
Externí odkaz:
https://doaj.org/article/89d8b21237c04432b90821ae7822b5b0
Autor:
Whitley Kelley, Irene Moss, Irfan Asif, Gregory Cooper, Candice Finnila, Susan Hiatt, Donald Latner, James Lawlor, Kelly East, Thomas May, Mariko Nakano-Okuno, Stephen Sodeke, Gregory Barsh, Nita Limdi, Matthew Might, Bruce Korf
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101407- (2024)
Externí odkaz:
https://doaj.org/article/fa3f1a6e44ad4fb4be69e46159785fe3
Autor:
Michael John Patton, Carlos J. Orihuela, Kevin S. Harrod, Mohammad A. N. Bhuiyan, Paari Dominic, Christopher G. Kevil, Daniel Fort, Vincent X. Liu, Maha Farhat, Jonathan L. Koff, Charitharth V. Lal, Anuj Gaggar, Robert P. Richter, Nathaniel Erdmann, Matthew Might, Amit Gaggar
Publikováno v:
Critical Care, Vol 27, Iss 1, Pp 1-12 (2023)
Abstract Background Recent single-center reports have suggested that community-acquired bacteremic co-infection in the context of Coronavirus disease 2019 (COVID-19) may be an important driver of mortality; however, these reports have not been valida
Externí odkaz:
https://doaj.org/article/08100dfe0b7b44c1ad101bf1bafeb813
Autor:
Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including g
Externí odkaz:
https://doaj.org/article/82f3d9bc8e174166b565226d795f1a90
Autor:
Whitley Kelley, Kelly East, Irfan Asif, Lori Bateman, Gregory Cooper, Brittney Davis, Candice Finnila, Blake Goff, Melissa Kelly, Irene Moss, Donald Latner, James Lawlor, Thomas May, Mariko Nakano-Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle Thompson, Gregory Barsh, Nita Limdi, Matthew Might, Bruce Korf
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100428- (2023)
Externí odkaz:
https://doaj.org/article/d802f78f958441fd8b807b3cdbe0773e
Autor:
Alexander Kolevzon, Tess Levy, Sarah Barkley, Sandra Bedrosian-Sermone, Matthew Davis, Jennifer Foss-Feig, Danielle Halpern, Katherine Keller, Ana Kostic, Christina Layton, Rebecca Lee, Bonnie Lerman, Matthew Might, Sven Sandin, Paige M. Siper, Laura G. Sloofman, Hannah Walker, Jessica Zweifach, Joseph D. Buxbaum
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100138- (2022)
Summary: Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder. Preclinical evidence suggests that low-dose ketamine may induce expression of ADNP a
Externí odkaz:
https://doaj.org/article/412d4f45e9134c2e94281d86bbd7955b
Autor:
Aleksandra Foksinska, Camerron M. Crowder, Andrew B. Crouse, Jeff Henrikson, William E. Byrd, Gregory Rosenblatt, Michael J. Patton, Kaiwen He, Thi K. Tran-Nguyen, Marissa Zheng, Stephen A. Ramsey, Nada Amin, John Osborne, UAB Precision Medicine Institute, Matthew Might, Stephen Barnes, Mei-Jan Chen, Mary E. Crumbley, Madeline Eckenrode, Crayton A. Fargason, Nathaniel Fehrmann, Forest Huls, Matthew Jarrell, Lindsay Jenkins, Meg McCalley, Tamsyn Osborn, Elizabeth Pollard, Sienna Rucka, Nicholas T. Southern, Jillian Tinglin, Jordan H. Whitlock
Publikováno v:
Frontiers in Artificial Intelligence, Vol 5 (2022)
There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulting in the n
Externí odkaz:
https://doaj.org/article/eafb0ce485144f31abd3b657a1dff8e1
Autor:
Nicholas G. Nickols, Matthew B. Goetz, Christopher J. Graber, Debika Bhattacharya, Guy Soo Hoo, Matthew Might, David B. Goldstein, Xinchen Wang, Rachel Ramoni, Kenute Myrie, Samantha Tran, Leila Ghayouri, Sonny Tsai, Michelle Geelhoed, Danil Makarov, Daniel J. Becker, Jun-Chieh Tsay, Melissa Diamond, Asha George, Mohammad Al-Ajam, Pooja Belligund, R. Bruce Montgomery, Elahe A. Mostaghel, Carlie Sulpizio, Zhibao Mi, Ellen Dematt, Joseph Tadalan, Leslie E. Norman, Daniel Briones, Christina E. Clise, Zachary W. Taylor, Jeffrey R. Huminik, Kousick Biswas, Matthew B. Rettig
Publikováno v:
Trials, Vol 22, Iss 1, Pp 1-8 (2021)
Abstract Background Therapeutic targeting of host-cell factors required for SARS-CoV-2 entry is an alternative strategy to ameliorate COVID-19 severity. SARS-CoV-2 entry into lung epithelium requires the TMPRSS2 cell surface protease. Pre-clinical an
Externí odkaz:
https://doaj.org/article/62f781dbd78244d99ccb944f53f3ca94
Autor:
Kimberly LeBlanc, Emily Glanton, Anna Nagy, Jorick Bater, Tala Berro, Molly A. McGuinness, Courtney Studwell, Undiagnosed Diseases Network, Matthew Might
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Although clinician, researcher, and patient resources for matchmaking exist, finding similar patients remains an obstacle for rare disease diagnosis. The goals of this study were to develop and test the effectiveness of an Interne
Externí odkaz:
https://doaj.org/article/01cdfa5ce3ea4ffdbdbf26fbee88d6b4
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f