Publications by authors named "Hyosang Do"

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Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations.
Soyoung Kim, Hyosang Do, Sun Hee Heo, Minji Kang, Soojin Hwang, Dohyung Kim

MedComm (2020)· December 2025

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Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Mi-Sun Yum, Min-Jee Kim, Hyosang Do

J Hum Genet· October 2025

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Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Dohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, Soojin Hwang, Go Hun Seo, Hyo-Sang Do

J Hum Genet· May 2025

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Therapeutic effects of lomerizine on vasculopathy in Fabry disease.
Jong Bin Choi, Hyo-Sang Do, Dong-Won Seol, Hee-Young Yang, Taek-Min Kim

Sci Rep· April 2025

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Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Ji-Hee Yoon, Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Go Hun Seo, Hyo-Sang Do

J Hum Genet· September 2024

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A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
Soojin Hwang, Hyunwoo Bae, Ji-Hee Yoon, Dohyung Kim, Hyo-Sang Do, Majdolen Istaiti

Am J Hematol· July 2024

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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi-Sun Yum, Go Hun Seo, Hyo-Sang Do

Mol Genet Genomic Med· April 2024

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Genetic heterogeneity of cardiomyopathy and its correlation with patient care.
Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Hyo-Sang Do

BMC Med Genomics· October 2023

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KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo

Mol Genet Genomic Med· April 2023

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Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease.
Jong Bin Choi, Dong-Won Seol, Hyo-Sang Do, Hee-Young Yang, Taek-Min Kim

Mol Ther· April 2023

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Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.
Gayoung Jang, Ha Rim Shin, Hyo-Sang Do, Jiyeon Kweon, Soojin Hwang

Mol Ther Nucleic Acids· March 2023

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Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).
Jong Bin Choi, Donghyuk Seo, Hyo-Sang Do, Yong-Mahn Han

Stem Cell Res· February 2023

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Clinical and genetic analyses of patients with lateralized overgrowth.
Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Hyo-Sang Do

BMC Med Genomics· September 2022

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Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
Eun Na Kim, Hyo-Sang Do, Hwangkyo Jeong, Taeho Kim, Sun Hee Heo

Clin Transl Med· May 2022

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Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.
Hyery Kim, Beom Hee Lee, Hyo-Sang Do, Gu-Hwan Kim, Sunghan Kang

Front Immunol· February 2022

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Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Hyo-Sang Do

BMC Med Genomics· October 2021

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Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.
Jong Bin Choi, Joonsun Lee, Minyong Kang, Bumsoo Kim, Younghee Ju, Hyo-Sang Do

Stem Cell Reports· August 2021

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Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.
Hyo-Sang Do, Sang-Wook Park, Ilkyun Im, Donghyuk Seo, Han-Wook Yoo

EBioMedicine· February 2020

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Generation of PDGFRα Cardioblasts from Pluripotent Stem Cells.
Seon Pyo Hong, Sukhyun Song, Sung Woo Cho, Seungjoo Lee, Bong Ihn Koh, Hyo-Sang Do

Sci Rep· February 2017

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Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation.
Sang-Wook Park, Hyo-Sang Do, Dongkyu Kim, Ji-Yun Ko, Sang-Hun Lee

Int J Stem Cells· November 2014

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Variable allelic expression of imprinted genes in human pluripotent stem cells during differentiation into specialized cell types in vitro.
Sang-Wook Park, Jihoon Kim, Jong-Lyul Park, Ji-Yun Ko, Ilkyun Im, Hyo-Sang Do, Dong Ryul Lee

Biochem Biophys Res Commun· April 2014

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