Zobrazeno 1 - 10 of 38 pro vyhledávání: '"Sukhan, Kim"'
1
Akademický článek
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation
Autor: Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu, Michael C. Kruer
Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-5 (2023)
Abstract Background Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral pal
Externí odkaz: https://doaj.org/article/5f38822c243b44708b9a5294b17175e5
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2
Akademický článek
Positive chronotropic action of HCN channel antagonism in human collecting lymphatic vessels
Autor: Jens Majgaard, Frederik G. Skov, Sukhan Kim, Vibeke Elisabeth Hjortdal, Donna M. B. Boedtkjer
Publikováno v: Physiological Reports, Vol 10, Iss 16, Pp n/a-n/a (2022)
Abstract Spontaneous action potentials precede phasic contractile activity in human collecting lymphatic vessels. In this study, we investigated the expression of hyperpolarization‐activated cyclic nucleotide‐gated (HCN) channels in human collect
Externí odkaz: https://doaj.org/article/a8c4ba86d190492ea1e777969522f948
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3
Akademický článek
A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology
Autor: Jin Zhang, Weiting Tang, Nidhi K. Bhatia, Yuchen Xu, Nabina Paudyal, Ding Liu, Sukhan Kim, Rui Song, Wenshu XiangWei, Gil Shaulsky, Scott J. Myers, William Dobyns, Vasanthi Jayaraman, Stephen F. Traynelis, Hongjie Yuan, Xiuhua Bozarth
Publikováno v: Frontiers in Genetics, Vol 12 (2021)
N-Methyl-D-aspartate receptors (NMDARs) are highly expressed in brain and play important roles in neurodevelopment and various neuropathologic conditions. Here, we describe a new phenotype in an individual associated with a novel de novo deleterious
Externí odkaz: https://doaj.org/article/35b7af089b1f4c96ab402ee40d573afb
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4
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Autor: Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Publikováno v: Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inGRIN1orGRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this stu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6df8d21797352c70b1f96c5314f0ab4
http://www.scopus.com/inward/record.url?scp=85128529767&partnerID=8YFLogxK
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5
Akademický článek
PTPRG is an ischemia risk locus essential for HCO3–-dependent regulation of endothelial function and tissue perfusion
Autor: Kristoffer B Hansen, Christian Staehr, Palle D Rohde, Casper Homilius, Sukhan Kim, Mette Nyegaard, Vladimir V Matchkov, Ebbe Boedtkjer
Publikováno v: eLife, Vol 9 (2020)
Acid-base conditions modify artery tone and tissue perfusion but the involved vascular-sensing mechanisms and disease consequences remain unclear. We experimentally investigated transgenic mice and performed genetic studies in a UK-based human cohort
Externí odkaz: https://doaj.org/article/553f7c2622b94fb89302d19517c3baa4
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6
Akademický článek
Murine breast cancer feed arteries are thin-walled with reduced α1A-adrenoceptor expression and attenuated sympathetic vasocontraction
Autor: Anne Sofie Froelunde, Marit Ohlenbusch, Kristoffer B. Hansen, Nicolai Jessen, Sukhan Kim, Ebbe Boedtkjer
Publikováno v: Breast Cancer Research, Vol 20, Iss 1, Pp 1-12 (2018)
Abstract Background Perfusion of breast cancer tissue limits oxygen availability and metabolism but angiogenesis inhibitors have hitherto been unsuccessful for breast cancer therapy. In order to identify abnormalities and possible therapeutic targets
Externí odkaz: https://doaj.org/article/d2b1026fff6c4f5fbe10b90516142202
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10
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation
Autor: Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu, Michael Kruer
Background Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3b847b23e7ff5f54840822a2f9c6dcc9
https://doi.org/10.21203/rs.3.rs-1875665/v1
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