Zobrazeno 1 - 10
of 458
pro vyhledávání: '"Sung-Sup Park"'
Autor:
Jee-Soo Lee, Tae-Min Rhee, Kibum Jeon, Yonggeun Cho, Seung-Woo Lee, Kyung-Do Han, Moon-Woo Seong, Sung-Sup Park, Young Kyung Lee
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 9, p 2289 (2022)
Thalassemia is the most common form of hereditary anemia. Here, we aimed to investigate the 13-year trend of the epidemiologic profiles and risk of comorbidities in thalassemia using a nationwide population-based registry in Korea. Diagnosis of thala
Externí odkaz:
https://doaj.org/article/85005fddcc114dbb9576a41057072b99
Autor:
Jung Hwan Shin, Hyeyoung Park, Gwan Hee Ehm, Woong Woo Lee, Ji Young Yun, Young Eun Kim, Jee-Young Lee, Han-Joon Kim, Jong-Min Kim, Beom Seok Jeon, Sung-Sup Park
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135275 (2015)
SCA17 is an autosomal dominant cerebellar ataxia with expansion of the CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. SCA17 is d
Externí odkaz:
https://doaj.org/article/d9f517ca81124d41a9c77f8127713174
Autor:
Soo Yeon Kim, Seungbok Lee, Hyewon Woo, Jiyeon Han, Young Jun Ko, Youngkyu Shim, Soojin Park, Se Song Jang, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Anna Cho, Hunmin Kim, Hee Hwang, Ji Eun Choi, Man Jin Kim, Jangsup Moon, Moon-Woo Seong, Sung Sup Park, Sun Ah Choi, Ji Eun Lee, Young Se Kwon, Young Bae Sohn, Jon Soo Kim, Won Seop Kim, Yun Jeong Lee, Soonhak Kwon, Young Ok Kim, Hoon Kook, Yong Gon Cho, Chong Kun Cheon, Ki-Soo Kang, Mi-Ryoung Song, Young-Joon Kim, Hyuk-Jin Cha, Hee-Jung Choi, Yun Kee, Sung-Gyoo Park, Seung Tae Baek, Murim Choi, Dong-Sung Ryu, Jong-Hee Chae
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Phase I of the Korean Undiagnosed Diseases Program (KUDP), performed for 3 years, has been completed. The Phase I program aimed to solve the problem of undiagnosed patients throughout the country and develop infrastructure, includ
Externí odkaz:
https://doaj.org/article/da31df2b66d24f748e7b60795882af11
Publikováno v:
Gut and Liver, Vol 15, Iss 1, Pp 142-145 (2021)
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chr
Externí odkaz:
https://doaj.org/article/6ffcdcf7ea46437f82f72475ff9c98aa
Autor:
Joowon Jang, Seung Won Chae, Ho Seop Shin, Sung Im Cho, Boram Kim, Jee-soo Lee, Man Jin Kim, Sung Sup Park, Moon-woo Seong
Publikováno v:
Laboratory Medicine Online. 13:91-96
Publikováno v:
Laboratory Medicine Online. 13:48-52
Autor:
Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, Emil K Gustavsson, Darren Christy, Melissa Maczis, Matthew J. Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, Sonja W. Scholz, Andrew B. Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Caroline M. Tanner, Walter A. Kukull, Virginia M.-Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud, Shoji Tsuji
To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, Eu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0ca23eb995d2b34d1429411448aeb26
https://doi.org/10.1101/2023.05.02.23289328
https://doi.org/10.1101/2023.05.02.23289328
Autor:
Youngeun Lee, Hyun Jin Park, Hyoung Jin Kang, Jung Min Ko, Boram Kim, Yoon Hwan Chang, Hyun Kyung Kim, Jee-Soo Lee, Man Jin Kim, Sung Sup Park, Moon-Woo Seong
Publikováno v:
Annals of Laboratory Medicine. 42:384-388
Autor:
Siegfried Janz, Louis M. Staudt, Michael Potter, Wendy duBois, Joong Su Kim, Arthur L. Shaffer, Sung Sup Park
Gene-targeted mice that contain a His6-tagged mouse c-Myc cDNA, MycHis, inserted head to head into different sites of the mouse immunoglobulin heavy-chain locus, Igh, mimic the chromosomal T(12;15)(Igh-Myc) translocation that results in the activatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dd694a10d4cb20c087af994d634f9df
https://doi.org/10.1158/0008-5472.c.6494687.v1
https://doi.org/10.1158/0008-5472.c.6494687.v1
Autor:
Siegfried Janz, Herbert C. Morse, J. Frederic Mushinski, Thomas Ried, Nicole McNeil, Roberto D. Polakiewicz, Wan C. Cheung, Ted A. Torrey, Seung Tae Chung, Seong Su Han, Liangping Peng, James D. Owens, Lino Tessarollo, Joong Su Kim, Sung Sup Park
We used gene targeting in mice to insert a His6-tagged mouse c-Myc cDNA, MycHis, head to head into the mouse immunoglobulin heavy-chain locus, Igh, just 5′ of the intronic enhancer, Eμ. The insertion of MycHis mimicked both the human t(8;14)(q24;q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::954c068afa28f44bc68814b1712c7be7
https://doi.org/10.1158/0008-5472.c.6494660
https://doi.org/10.1158/0008-5472.c.6494660