Search Results - "Choi, Yunha"

Novel hematopoietic progenitor kinase 1 inhibitor KHK-6 enhances T-cell activation by Ahn, Min Jeong, Kim, Eun Hye, Choi, Yunha, Chae, Chong Hak, Kim, Pilho, Kim, Seong Hwan

“…Inhibiting the functional role of negative regulators in immune cells is an effective approach for developing immunotherapies. The serine/threonine kinase…”
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Clinical and molecular spectra of BRAF-associated RASopathy by Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Choi, In Hee, Keum, Changwon, Ko, Jung Min, Cheon, Chong Kun, Jeon, Jihyun, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee

“…Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are the most common subtypes of RASopathy. As an effector of Ras, BRAF is one of the molecules…”
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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay by Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, Eun, Baik-Lin

“…The diagnostic yield of whole-exome sequencing (WES) varies from 30%-50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual…”
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Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease by Jin, Hye-Young, Lim, Jae-Sang, Lee, Yena, Choi, Yunha, Oh, Seak-Hee, Kim, Kyung-Mo, Yoo, Han-Wook, Choi, Jin-Ho

“…Endocrine complications such as impaired growth, delayed puberty, and low bone mineral density (BMD) can be associated with inflammatory bowel disease (IBD) in…”
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A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy by Chung, Jin A, Choi, Yunha, Chae, Kyu Yong

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Discovery of harmalanium halides as anti‐ovarian cancer agents by Choi, Yunha, Ji, Sang Hee, Patil, Vineet, Kim, Eun Hye, Park, Hoyeong, Kim, Seong Hwan, Kim, Pilho

“…Harmala alkaloid (HA) derivatives having 4,9‐dihydro‐3H‐pyrido[3,4‐b]indolium core structure were prepared and their anti‐ovarian cancer activities were…”
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Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression by Kang, Eungu, Kim, Yoon-Myung, Choi, Yunha, Lee, Yena, Kim, JunYoung, Choi, In Hee, Yoo, Han-Wook, Yoon, Hee Mang, Lee, Beom Hee

“…Neurofibromatosis type 1 (NF1) is a common human genetic disease with age-dependent phenotype progression. The overview of clinical and radiological findings…”
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Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta by Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho

“…Osteogenesis imperfecta (OI) is a rare bone fragility disorder caused by defects in type 1 collagen biosynthesis. This study investigated the…”
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Clinical and genetic analyses of patients with lateralized overgrowth by Kim, Yoon-Myung, Lee, Yena, Choi, Yunha, Choi, In Hee, Heo, Sun Hee, Choi, Jung Min, Do, Hyo-Sang, Jang, Ja-Hyun, Yum, Mi-Sun, Yoo, Han-Wook, Lee, Beom Hee

“…Abstract Background The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic…”
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Pyrazolo[3,4‐d]pyrimidine derivatives as irreversible Bruton's tyrosine kinase inhibitors by Yeom, Hyesu, Achary, Raghavendra, Choi, Yunha, Park, Chi Hoon, Lee, Joo‐Youn, Lee, Heung Kyoung, Kim, Pilho, Cho, Sung Yun

“…4,6‐Disubstituted pyrazolo[3,4‐d]pyrimidine derivatives were explored as irreversible Bruton's tyrosine kinase (BTK) inhibitors. The structure–activity…”
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Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents by Yoon, Ji-Hee, Choi, Yunha, Lee, Yena, Yoo, Han-Wook, Choi, Jin-Ho

“…PURPOSEOsteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused…”
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Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review by Ha, Jihyun, Choi, Yunha, Jung, Mo Kyung, Yoo, Eun-Gyong, Yoo, Han-Wook

“…Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the…”
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A 14-year-old male with rhabdomyolysis associated with psychogenic polydipsia and hyponatremia by Jung, Youn Shin, Choi, Yunha, Ha, Jihyun, Yoo, Eun-Gyong, Paek, So Hyun, Jung, Mo Kyung

“…Rhabdomyolysis associated with psychogenic polydipsia and hyponatremia is a rare condition that can cause substantial morbidity and mortality. We report a…”
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Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center by Kim, Ja Hye, Lee, Yena, Choi, Yunha, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho

“…The prevalence of monogenic diabetes is estimated to be 1.1-6.3% of patients with diabetes mellitus (DM) in Europe. The overlapping clinical features of…”
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Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea by Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Keum, Changwon, Kim, Yoo-Mi, Do, Hyo-Sang, Choi, Jeongmin, Choi, In Hee, Yoo, Han-Wook, Lee, Beom Hee

“…The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA…”
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Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings by Kim, Ja Hye, Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho

“…Objective Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This…”
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Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency by Lee, Yun Jeong, Choi, Yunha, Yoo, Han-Wook, Lee, Young Ah, Shin, Choong Ho, Choi, Han Saem, Kim, Ho-Seong, Kim, Jae Hyun, Moon, Jung Eun, Ko, Cheol Woo, Ahn, Moon Bae, Suh, Byung-Kyu, Choi, Jin-Ho

“…Discontinuing growth hormone (GH) treatment during the transition to adulthood has been associated with adverse health outcomes in patients with…”
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Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors by Lee, Yena, Shin, Juhee, Choi, Yunha, Kim, Hyery, Koh, Kyung-Nam, Im, Ho Joon, Yoo, Han-Wook, Choi, Jin-Ho

“…Due to remarkable progress in cancer treatment, endocrine complications are now the major medical issues facing childhood cancer survivors. Although…”
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Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism by Hye Kim, Ja, Choi, Yunha, Hwang, Soojin, Yoon, Ji-Hee, Lee, Jieun, Jae Kang, Min, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho

“…This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann…”
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KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature by Choi, Yunha, Choi, Jungmin, Do, Hyosang, Hwang, Soojin, Seo, Go Hun, Choi, In Hee, Keum, Changwon, Choi, Jin‐Ho, Kang, Minji, Kim, Gu‐Hwan, Yoo, Han‐Wook, Lee, Beom Hee

“…Background KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused…”
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