Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Hyo‐Sang Do"'
Autor:
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system. Clinical man
Externí odkaz:
https://doaj.org/article/8da963c2676e4fdb90534c447e635132
Autor:
Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Minji Kang, Hyo-Sang Do, Sang Eun Lee, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Background Cardiomyopathy, which is a genetically and phenotypically heterogeneous pathological condition, is associated with increased morbidity and mortality. Genetic diagnosis of cardiomyopathy enables accurate phenotypic classification a
Externí odkaz:
https://doaj.org/article/fd039a0d62a44735ab37a3633ad4ca8a
Autor:
Gayoung Jang, Ha Rim Shin, Hyo-Sang Do, Jiyeon Kweon, Soojin Hwang, Soyoung Kim, Sun Hee Heo, Yongsub Kim, Beom Hee Lee
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 586-595 (2023)
Lesch-Nyhan syndrome (LNS) is inherited as an X-linked recessive genetic disorder caused by mutations in hypoxanthine-guanine phosphoribosyl transferase 1 (HPRT1). Patients with LNS show various clinical phenotypes, including hyperuricemia, gout, dev
Externí odkaz:
https://doaj.org/article/eb6665589bc6414aa635932aaa3cb0f1
Autor:
Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients with lat
Externí odkaz:
https://doaj.org/article/c089b3d5ca8a4853bb48a1e9a785b7df
Publikováno v:
Stem Cell Research, Vol 66, Iss , Pp 103001- (2023)
Fabry disease (FD) is a lysosomal storage disorder caused by mutations in GLA gene. Here, GLA mutation (1268fs*1 (c.803_806del)) of FD iPSCs was corrected using the CRISPR-Cas9 gene editing system. The corrected (cor) FD-iPSCs retained normal morphol
Externí odkaz:
https://doaj.org/article/619a0fb49c33439cbdd1f6a78627dcbc
Autor:
Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-10 (2021)
Abstract Background The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF comple
Externí odkaz:
https://doaj.org/article/f92541cb745f4e59a75024cc2e7bab11
Autor:
Eun Na Kim, Hyo‐Sang Do, Hwangkyo Jeong, Taeho Kim, Sun Hee Heo, Yoo‐Mi Kim, Chong Kun Cheon, Yena Lee, Yunha Choi, In Hee Choi, Jeongmin Choi, Han‐Wook Yoo, Chong Jai Kim, Ari Zimran, Kyunggon Kim, Beom Hee Lee
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 5, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/2b006b6b1a4a419685557bc7611ab6b8
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway. The treatment of MKD focuses on the suppression of recurrent hyperinflammatory attacks using an
Externí odkaz:
https://doaj.org/article/c640aea693a04a59859df7ad4f5c2c01
Autor:
Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo, Heounjeong Go, Yoo Hyung Kim, Gou Young Koh, Beom-Hee Lee, Yong-Mahn Han
Publikováno v:
EBioMedicine, Vol 52, Iss , Pp - (2020)
Background: Fabry disease (FD) is a recessive X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) deficiency. Although the mechanism is unclear, GLA deficiency causes an accumulation of globotriaosylceramide (Gb3), leading to vascu
Externí odkaz:
https://doaj.org/article/3dbd06bde82e404f8679a30593106c5f
Autor:
Jong Bin Choi, Dong-Won Seol, Hyo-Sang Do, Hee-Young Yang, Taek-Min Kim, Youkyeong Gloria Byun, Jae-Min Park, Jinhyuk Choi, Seon Pyo Hong, Won-Suk Chung, Jae Myoung Suh, Gou Young Koh, Beom Hee Lee, Gabbine Wee, Yong-Mahn Han
Publikováno v:
Molecular Therapy. 31:1002-1016