Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Josiah Chai"'
Autor:
Marianne Sheila, Gunaseelan Narayanan, Siming Ma, Wai Leong Tam, Josiah Chai, Lawrence W. Stanton
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 1-13 (2019)
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of polyglutamine region in the androgen receptor. To gain insights into mechanisms of SBMA, four wild-type and five SBMA iPSC lines were differentiated t
Externí odkaz:
https://doaj.org/article/e5d9b08f94374cd683d6cf333405e183
Publikováno v:
Stem Cell Research, Vol 20, Iss C, Pp 30-33 (2017)
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR). We report the generation of induced pluripotent stem cell (iPSC) lines from two SBMA patients and thei
Externí odkaz:
https://doaj.org/article/3346457cf8c5452f8d3a9f2c13088459
Autor:
Harumasa Nakamura, Yuh-Jyh Jong, Raymond L. Rosales, Fumi Takeuchi, Andrew J. Kornberg, Sara Khan, Ichizo Nishino, Ikuya Nonaka, Josiah Chai, Ohnmar Ohnmar, Naohiro Yonemoto, Kum Thong Wong, Dingguo Shen, Sophelia H. S. Chan, Dae-Seong Kim, Shin'ichi Takeda, Allan H. Bretag, Charungthai Dejthevaporn, Hirofumi Komaki, Khean Jin Goh, Satish V Khadilkar
Publikováno v:
Brain and Development. 42:277-288
Background: Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related
Publikováno v:
Annals of the Academy of Medicine, Singapore. 47:349-352
Autor:
Poh Sim Low, Poh San Lai, Stacey Tay Kiat Hong, Vikaesh Moorthy, Swati Tomar, Raman Sethi, Josiah Chai
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 181(2)
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise mole
Autor:
Lawrence W. Stanton, Wai Leong Tam, Gunaseelan Narayanan, Josiah Chai, Marianne Sheila, Siming Ma
Publikováno v:
Neurobiology of Disease, Vol 124, Iss, Pp 1-13 (2019)
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of polyglutamine region in the androgen receptor. To gain insights into mechanisms of SBMA, four wild-type and five SBMA iPSC lines were differentiated t
Publikováno v:
Stem Cell Research, Vol 20, Iss C, Pp 30-33 (2017)
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR). We report the generation of induced pluripotent stem cell (iPSC) lines from two SBMA patients and thei
Autor:
Masayoshi Yamamoto, Satomi Mitsuhashi, Ichizo Nishino, Josiah Chai Yui Huei, Takahiro Yonekawa, Hiroyuki Yahikozawa, Kenji Murakata, Seigo Kimura, Sachiko Kamada, Wenhua Zhu, Atchayaram Nalini, Veeramani Preethish-Kumar, Satoru Noguchi, Madoka Mori-Yoshimura, Fumitada Yamashita, Masato Karasawa
Publikováno v:
Journal of human genetics. 62(2)
GNE myopathy is an autosomal recessive distal myopathy caused by loss-of-function mutations in the GNE gene, which encodes UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE), a key enzyme in sialic-acid biosynthesis. By comprehensive screening of manifesting
Autor:
Eric L. Logigian, Josiah Chai
Publikováno v:
Current Opinion in Neurology. 23:509-513
This review summarizes our current understanding of the neurological manifestations of primary Sjogren's syndrome (PSS), their pathophysiology, and treatment.Prevalence of neurological manifestations in PSS varies widely from 10 to 60%, with pure or
A multimodality approach to reversible paraneoplastic encephalitis associated with ovarian teratomas
Autor:
Tiffany Tang, Kay Yaw Tay, Josiah Chai, Anupriya Agarwal, Jeffrey Low, Ee Lian Lee, Khoon Leong Chuah, Kesavan S/o Sittampalan, Chin Fong Wong, Josep Dalmau, Joanne Ngeow, Lay Tin Soh, Min-Han Tan
Publikováno v:
Acta Oncologica. 48:1079-1082
in our case, biopsies do not always yield the expected results. We should not forget that this test may also sometimes give false positive results, especially in low-grade AS that cannot be readily distinguished from radiotherapy-induced changes [3].