Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Taekyeong Yoo"'
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Autor:
Eric Seidel, Gudrun Walenda, Clemens Messerschmidt, Benedikt Obermayer, Mirko Peitzsch, Paal Wallace, Rohini Bahethi, Taekyeong Yoo, Murim Choi, Petra Schrade, Sebastian Bachmann, Gerhard Liebisch, Graeme Eisenhofer, Dieter Beule, Ute I Scholl
Publikováno v:
Endocrine Connections, Vol 9, Iss 2, Pp 122-134 (2020)
Mitotane is the only drug approved for the therapy of adrenocortical carcinoma (ACC). Its clinical use is limited by the occurrence of relapse during therapy. To investigate the underlying mechanisms in vitro, we here generated mitotane-resistant cel
Externí odkaz:
https://doaj.org/article/78a57dbb9b3648b6a37704ee4da16d0f
Autor:
Ji Hong Park, Jung Min Ko, Min Sun Kim, Man Jin Kim, Moon‐Woo Seong, Taekyeong Yoo, Byung Chan Lim, Jong‐Hee Chae
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)
Abstract Background Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2‐ganglioside in lysosomes, decrea
Externí odkaz:
https://doaj.org/article/f4fcdc056b084237acf838c710b33dd9
Autor:
Magdy, Amal, Hee-Jin Kim, Hanyong Go, Jun Min Lee, Hyun Ahm Sohn, Keeok Haam, Hyo-Jung Jung, Jong-Lyul Park, Taekyeong Yoo, Eun-Soo Kwon, Dong Hyeon Lee, Murim Choi, Keon Wook Kang, Won Kim, Mirang Kim
Publikováno v:
Clinical & Molecular Hepatology; 2024, Vol. 30 Issue 4, p824-844, 42p
Autor:
Dong Hyeon Lee, Bo Kyung Koo, Geum-Sook Hwang, Min Kyung Lee, Seo Young Jang, Mee Soo Chang, Taekyeong Yoo, Sae Kyung Joo, Murim Choi, Youngae Jung, Yong Jin Jung, Heeyeon Lee, Dain Kim, Jeong Hwan Park, Sang Won Kang, Won Kim
Publikováno v:
Liver International. 41:2892-2902
Background and aims Bile acid (BA) dysregulation is related to not only metabolic diseases but also nonalcoholic fatty liver disease (NAFLD). We investigated whether circulating BA levels are altered according to the histological severity of NAFLD in
Autor:
Jin Sook Lee, Ki Joong Kim, Taekyeong Yoo, Soo Yeon Kim, Youngha Lee, Jong Hee Chae, Moses Lee, Eunyoung Jeon, Murim Choi, Byung Chan Lim
Publikováno v:
Clinical Genetics. 97:586-594
Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high deg
Autor:
Won Kim, Won-Il Jeong, Hyungtai Sim, Keon Wook Kang, Sunhee Jung, Stefano Romeo, Sae Kyung Joo, Youngha Lee, Hyun Young Kim, Ji Eun Lee, Geum-Sook Hwang, Jae Woo Kim, Taekyeong Yoo, Hee-Hoon Kim, Hyo Jung Kim, Oveis Jamialahmadi, Murim Choi
Background & AimsNonalcoholic fatty liver disease (NAFLD) poses an impending clinical burden. Genome-wide association studies have revealed a limited contribution of genomic variants to the disease, requiring alternative but robust approaches to iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40efd145c04a00fbc287e3b2c1c70aaa
https://doi.org/10.1101/2021.03.22.436368
https://doi.org/10.1101/2021.03.22.436368
Autor:
Moon Woo Seong, Jung Min Ko, Jong Hee Chae, Taekyeong Yoo, Ji Hong Park, Min Sun Kim, Byung Chan Lim, Man Jin Kim
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)
Background Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2‐ganglioside in lysosomes, decreased level
Autor:
Jae Sung Ko, Seong Dong Jeong, Young Bae Sohn, Che Ry Hong, Taekyeong Yoo, Hyeon Ho Kim, Murim Choi, Tae Joon Cho, Nathan T. Wright, Soo Jin Son, Ah-Ra Kim, Boryeong Park, Suk-Won Jin, Ok Hwa Kim, Jun-Dae Kim, Hyoung Jin Kang, Sangmoon Lee, Jung Min Ko, Jawon Lee, Oleksandr Kokhan, Je Kyung Seong, Chang Hoon Shin
Publikováno v:
Blood. 138(21)
Shwachman-Diamond syndrome (SDS; OMIM #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 a
Autor:
Oveis Jamialahmadi, Hee-Hoon Kim, Jae Woo Kim, Ji Eun Lee, Stefano Romeo, Hyun Young Kim, Murim Choi, Won-Il Jeong, Geum-Sook Hwang, Won Kim, Keon Wook Kang, Hyo Jung Kim, Sunhee Jung, Sae Kyung Joo, Youngha Lee, Taekyeong Yoo, Hyungtai Sim
Publikováno v:
Journal of hepatology. 75(3)
Background & Aims Non-alcoholic fatty liver disease (NAFLD) poses an increasing clinical burden. Genome-wide association studies have revealed a limited contribution of genomic variants to the disease, requiring alternative but robust approaches to i