Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Nyamkhishig Sambuughin"'
Autor:
Igor L. Estevao, Josh B. Kazman, Lisa M. Bramer, Carrie Nicora, Ming Qiang Ren, Nyamkhishig Sambuughin, Nathalie Munoz, Young-Mo Kim, Kent Bloodsworth, Maile Richert, Justin Teeguarden, Kristin Burnum-Johnson, Patricia A. Deuster, Ernesto S. Nakayasu, Gina Many
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-12 (2024)
Abstract Background The year of 2023 displayed the highest average global temperatures since it has been recorded—the duration and severity of extreme heat are projected to increase. Rising global temperatures represent a major public health threat
Externí odkaz:
https://doaj.org/article/aad8a64ea9334f3eb1e4e7e5fb9a25ea
Autor:
Nyamkhishig Sambuughin, Ognoon Mungunsukh, Mingqiang Ren, John F. Capacchione, Iren Horkayne-Szakaly, Kevin Chuang, Sheila M. Muldoon, Jonathan K. Smith, Francis G. O'Connor, Patricia A. Deuster
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 76-81 (2018)
Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal muscle. Recurrent exertional rhabdomyolysis has been associated with metabolic myopathies
Externí odkaz:
https://doaj.org/article/1a6be99af61949e58db4bdbc9a8c1859
Autor:
Nyamkhishig Sambuughin, Mingqiang Ren, John F. Capacchione, Ognoon Mungunsukh, Kevin Chuang, Iren Horkayne-Szakaly, Francis G. O’Connor, Patricia A. Deuster
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inhe
Externí odkaz:
https://doaj.org/article/8208ea04f1d44911a4d6f76253753be4
Publikováno v:
Nutrients; Volume 14; Issue 14; Pages: 2966
The Dietary Guidelines for Americans recommend increasing the intake of omega-3 polyunsaturated fatty acids. The Omega-3 Index (O3I) is one marker used to assess omega-3 status. The O3I national average is 4.3%, which translates into a high risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50b5adc85a96657494686e30a52a6c25
Autor:
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker
The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1-related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5
https://doi.org/10.1101/2022.06.23.497341
https://doi.org/10.1101/2022.06.23.497341
Autor:
Jennifer Johnston, Robert Dirksen, Thierry Girard, Stephen Gonsalves, Phil Hopkins, Natalia Kraeva, Mungunsukh Ognoon, Bailey Radenbaugh, Sheila Riazi, Rachel Robinson, Nyamkhishig Sambuughin, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie Biesecker
Publikováno v:
Genetics in Medicine. 24:S229-S230
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b21b94660dbdef26ba761a64810d61f
https://doi.org/10.1016/j.gim.2022.01.399
https://doi.org/10.1016/j.gim.2022.01.399
Autor:
Stephen G. Gonsalves, Robert T. Dirksen, Philip M. Hopkins, Richa Saxena, Leslie G. Biesecker, James L. Weber, Kathryn M. Stowell, Nyamkhishig Sambuughin, Sheila Riazi, Thierry Girard, Henry Rosenberg, Jennifer J. Johnston, Louis A. Saddic
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose As a ClinGen Expert Panel (EP) we set out to adapt the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) pathogenicity criteria for classification of RYR1 variants as related to autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed287e0c2262ad26677ba75142cf389
Autor:
Robert T. Dirksen, Phil M. Hopkins, Louis A. Saddic, Henry Rosenberg, Stephen G. Gonsalves, Nyamkhishig Sambuughin, Sheila Riazi, Leslie G. Biesecker, Jennifer J. Johnston, Richa Saxena, James L. Weber, Kathryn M. Stowell, Thierry Girard
PurposePrevention of malignant hyperthermia (MH) requires an understanding of RYR1 variant pathogenicity to assess the risk of exposure to triggering agents. Personalized medicine, especially secondary findings and eventually genomic screening, will
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5450551c1290c5106fd868f66907fbe
https://doi.org/10.1101/2020.11.29.402768
https://doi.org/10.1101/2020.11.29.402768
Autor:
Ognoon Mungunsukh, Kevin Chuang, John F. Capacchione, Mingqiang Ren, Nyamkhishig Sambuughin, Francis G. O'Connor, Sheila M. Muldoon, Iren Horkayne-Szakaly, Patricia A. Deuster, Jonathan K. Smith
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 76-81 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal muscle. Recurrent exertional rhabdomyolysis has been associated with metabolic myopathies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a46165e84f17af9a2dda513566f7d7
http://www.sciencedirect.com/science/article/pii/S221442691830082X
http://www.sciencedirect.com/science/article/pii/S221442691830082X
Autor:
Sheila M. Muldoon, Nyamkhishig Sambuughin, Patricia A. Deuster, Ognoon Mungunsukh, Francis G. O'Connor
Publikováno v:
British Journal of Anaesthesia. 123:e461-e463
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859854448534ebd77e8b6c8741ca14e0
https://doi.org/10.1016/j.bja.2019.06.010
https://doi.org/10.1016/j.bja.2019.06.010