Chong Kun Cheon
Pusan National University
GeneCompound heterozygosityInternal medicineEndocrinologyGenotypePathologyExome sequencingAllelePediatricsShort statureDiseaseGene mutationExonMutationGeneticsMedicineMissense mutationGenetic counselingBiologyGastroenterology
82Publications
14H-index
546Citations
Publications 81
Newest
#1Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
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#1Ju Young Yoon (PNU: Pusan National University)H-Index: 2
#2Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
Last. Seok Dong Yoo (PNU: Pusan National University)
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#1Ju Young Yoon (PNU: Pusan National University)H-Index: 2
#2Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
Background The study aimed to delineate the genotypic features and endocrine / metabolic profiles in patients with 21-hydroxylase deficiency. Methods Subjects were diagnosed with 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and followed up in Pusan National University Children's Hospital from July 2008 to April 2019. The genotype, phenotype, and endocrine and metabolic profiles in children and young adults with congenital adren...
1 CitationsSource
#1Yena Lee (UOU: University of Ulsan)H-Index: 2
#2Yunha Choi (UOU: University of Ulsan)H-Index: 1
Last. Beom Hee Lee (UOU: University of Ulsan)H-Index: 18
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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 responsible for RASopathy. We investigated the phenotypic and genotypic features of 26 patients with BRAF-associated RASopathy. The clinical diagnoses were CFC (n = 21, 80.8%), NS (n = 3, 11.5%), NS/CFC (n = 1, 3.8%), and undefined syndromic intellectual disability (ID) (n = 1, 3.8%). The mostly shared phenotypes were ID (90.5%), cutaneous ...
1 CitationsSource
#1Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
#2Hee Young Choi (PNU: Pusan National University)H-Index: 12
Last. Su Jin Kim (PNU: Pusan National University)H-Index: 1
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Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS). Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included best-corrected visual acuity, intraocular pressure, anterior segment, adnexal examination, and dilated fund...
2 CitationsSource
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#1Sukdong Yoo (PNU: Pusan National University)H-Index: 1
#2Young A Kim (PNU: Pusan National University)H-Index: 5
Last. Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
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Abstract Background Combined oxidative phosphorylation deficiency 35 (COXPD 35) is a very rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the TRIT1 gene on chromosome 1p34. Only six cases of COXPD 35 and six allelic variants of TRIT1 gene mutations have been reported worldwide. Case description: We describe two siblings who presented with similar clinical features including severe intellectual disability and epilepsy with onset of symptom in early inf...
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#1Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
#2Yeoun Joo Lee (PNU: Pusan National University)H-Index: 13
Last. Ju Young Yoon (PNU: Pusan National University)H-Index: 2
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Objectives Monogenic diabetes includes a group of heterogeneous diabetes types. We aimed to identify the frequency, clinical and molecular features of monogenic diabetes in a Korean pediatric cohort. Methods A retrospective cohort and multicenter study of Korean children suspected to have monogenic diabetes, managed by four pediatric endocrine centers in the southeast region of South Korea, from February 2016 to February 2020. We recruited 27 pediatric Korean patients suspected to have monogenic...
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#1Joo Young Lee (PNU: Pusan National University)H-Index: 1
#2Ji Hye Lee (PNU: Pusan National University)H-Index: 12
Last. Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
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Gomisin N (GN) is lignin derived from Schisandra chinensis that has been reported to exhibit hepato-protective, anti-cancer, and anti-inflammatory effects. However, its role in whole-body energetic homeostasis remains unclear. In this study, we employed Drosophila melanogaster as a diet-induced obese model to elucidate the effects of GN on lipid and glucose metabolism by measuring climbing activity, triglyceride levels, and lifespan under a rearing condition of a high-fat diet (HFD) containing 2...
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#1Yena Lee (UOU: University of Ulsan)H-Index: 2
#2Jin-Ho Choi (UOU: University of Ulsan)H-Index: 21
Last. Han-Wook Yoo (UOU: University of Ulsan)H-Index: 29
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PURPOSE Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated the clinical, hormonal, and molecular characteristics of patients with POR deficiency in Korea. METHODS This study included four patients with POR ...
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