Zobrazeno 1 - 10
of 315
pro vyhledávání: '"Yuh‐Jyh Jong"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract The most common mutation in southern Chinese individuals with late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD; a fatty acid metabolism disorder) is c.250G > A (p.Ala84Thr) in the electron transfer flavoprotein dehydrogenas
Externí odkaz:
https://doaj.org/article/58102a6b95644f00bd0f9a7d77eab7a4
Autor:
Shao-Wei Pan, Horng-Dar Wang, He-Yun Hsiao, Po-Jui Hsu, Yung-Che Tseng, Wen-Chen Liang, Yuh-Jyh Jong, Chiou-Hwa Yuh
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-19 (2024)
Abstract Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options. In this study, we delve into the investigations of five distinct LMNA mutations, incl
Externí odkaz:
https://doaj.org/article/2369a1c7bd9142cbbafe31b4891e0e66
Autor:
Tai-Heng Chen, Shih-Hsin Chang, Yu-Fu Wu, Ya-Ping Yen, Fang-Yu Hsu, Yen-Chung Chen, Yang Ming, Ho-Chiang Hsu, Yi-Ching Su, Sheng-Tang Wong, Jui-Hung Hung, Shih-Hwa Chiou, Yuh-Jyh Jong, Jun-An Chen
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 144-160 (2023)
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by the selective loss of spinal motor neurons (MNs) and concomitant muscle weakness. Mutation of SMN1 is known to cause SMA, and restoring SMN protein levels via antisense oli
Externí odkaz:
https://doaj.org/article/420741cfadc04cd1856eed780b37a795
Autor:
Minh-Tram T. Nguyen, Yu-Chien Shih, Meng-Hsuan Lin, Steve R. Roffler, Chiao-Yu Hsiao, Tian-Lu Cheng, Wen-Wei Lin, En-Chi Lin, Yuh-Jyh Jong, Chin-Yuan Chang, Yu-Cheng Su
Publikováno v:
Communications Chemistry, Vol 5, Iss 1, Pp 1-8 (2022)
Methoxy polyethylene glycol (mPEG) is widely attached to drug molecules to improve their therapeutic efficacy, however mPEG can induce anti-PEG antibodies that negatively impact their therapeutic effects. Here, the authors determine the co-crystal st
Externí odkaz:
https://doaj.org/article/3bd2b80b635d43d5a3b29f476d587e7e
Autor:
Pei-Ying Kao, Ming-Hui Chen, Wei-An Chang, Mei-Lin Pan, Wei-Der Shu, Yuh-Jyh Jong, Hsien-Da Huang, Cheng-Yan Wang, Hong-Yan Chu, Cheng-Tsung Pan, Yih-Lan Liu, Yeong-Shin Lin
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0281903 (2023)
Here in this study we adopted genome-wide association studies (GWAS) to investigate the genetic components of the personality constructs in the Chinese Personality Assessment Inventory 2 (CPAI-2) in Taiwanese Hakka populations, who are likely the des
Externí odkaz:
https://doaj.org/article/6a915a0b1bfb48b982b3ff7018b7c458
l-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish
Autor:
Po-Jui Hsu, Horng-Dar Wang, Yung-Che Tseng, Shao-Wei Pan, Bonifasius Putera Sampurna, Yuh-Jyh Jong, Chiou-Hwa Yuh
Publikováno v:
Journal of Biomedical Science, Vol 28, Iss 1, Pp 1-21 (2021)
Abstract Background Congenital myopathy (CM) is a group of clinically and genetically heterogeneous muscle disorders, characterized by muscle weakness and hypotonia from birth. Currently, no definite treatment exists for CM. A de novo mutation in Tro
Externí odkaz:
https://doaj.org/article/30716d4cf73a4a8c930c447fab6e3f6c
Autor:
Wen‐Chen Liang, Chen‐Hua Wang, Wan‐Zi Chen, Yun‐Ting Kuo, Hsiu‐Fen Lin, Shigeaki Suzuki, Ichizo Nishino, Yuh‐Jyh Jong
Publikováno v:
Kaohsiung Journal of Medical Sciences, Vol 36, Iss 8, Pp 649-655 (2020)
Abstract Immune‐mediated necrotizing myopathy (IMNM) has emerged as a new subgroup of idiopathic inflammatory myopathy in the past decade, associated with the presence of two autoantibodies against signal recognition particle and 3‐hydroxy‐3‐
Externí odkaz:
https://doaj.org/article/4d8891dc832f493f8c52a0f510e7ea95
Autor:
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD varies among different et
Externí odkaz:
https://doaj.org/article/b9d1018908994e309627ccc9fcde0613
Publikováno v:
Pediatrics and Neonatology, Vol 63, Iss 2, Pp 198-199 (2022)
Externí odkaz:
https://doaj.org/article/feaa1c2e8a6e45fda1edb8b3d1847169
Publikováno v:
Pediatrics and Neonatology, Vol 60, Iss 4, Pp 405-410 (2019)
Background: No previous studies have explored emergency medical care for children with chronic neuromuscular disorders (NMDs). We aimed to determine the major reasons for the emergency room (ER) readmission of pediatric patients with NMDs and suggest
Externí odkaz:
https://doaj.org/article/65cbd44a843c4195b638db3e6c4a145f