• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.30-36
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• 2013

6-pyruvoyltetrahydropterin synthase (PTPS) deficiency is autosomal recessive disorder and the most common type of tetrahydrobiopterin (BH4) deficiency. It is caused by deficiency of PTPS, a cofactor involved in the biosynthesis of BH4 from guanosine triphosphate (GTP). Unlike classical phenylketonuria, which needs restriction of dietary phenylalanine for whole life, BH4 deficiency is treated by tetrahydrobiopterin, levodopa, and 5-hydroxytryptophan replacement. So it is important to make accurate diagnosis and initiate treatment as soon as possible for a better prognosis. There is no retrospective study of Korean patients undergoing long-term treatment for PTPS deficiency. We report 9 Korean patients with PTPS deficiency and their laboratory findings including BH4 loading tests, urine pterin tests, genotypes, dihydropteridine reductase (DHPR) activities and clinical manifestations including medication and developmental delay existence.

• Genomics & Informatics
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• v.9 no.4
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• pp.161-172
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• 2011

Angiogenesis is regulated by a large number of molecules and complex signaling mechanisms. The G protein $G{\alpha}_{13}$ is a part of this signaling mechanism as an endothelial cell movement regulator. Gene expression analysis of $G{\alpha}_{13}$ knockout mouse embryos was carried out to identify the role of $G{\alpha}_{13}$ in angiogenesis signaling during embryonic development. Hypoxia-inducible response factors including those acting as regulators of angiogenesis were over expressed, while genes related to the cell cycle, DNA replication, protein modification and cell-cell dissociation were under expressed. Functional annotation and network analysis indicate that $G{\alpha}_{13}{^{-/-}}$ embryonic mice were exposed to hypoxic conditions. The present analysis of the time course highlighted the significantly high levels of disorder in the development of the cardiovascular system. The data suggested that hypoxia-inducible factors including those associated with angiogenesis and abnormalities related to endothelial cell division contributed to the developmental failure of $G{\alpha}_{13}$ knockout mouse embryos.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.58-61
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• 2011

Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.711-715
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• 2002

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

• Genomics & Informatics
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• v.13 no.3
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• pp.76-80
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• 2015

Type 2 diabetes mellitus is a complex metabolic disorder associated with multiple genetic, developmental and environmental factors. The recent advances in gene expression microarray technologies as well as network-based analysis methodologies provide groundbreaking opportunities to study type 2 diabetes mellitus. In the present study, we used previously published gene expression microarray datasets of human skeletal muscle samples collected from 20 insulin sensitive individuals before and after insulin treatment in order to construct insulin-mediated regulatory network. Based on a motif discovery method implemented by iRegulon, a Cytoscape app, we identified 25 candidate regulons, motifs of which were enriched among the promoters of 478 up-regulated genes and 82 down-regulated genes. We then looked for a hierarchical network of the candidate regulators, in such a way that the conditional combination of their expression changes may explain those of their target genes. Using Genomica, a software tool for regulatory network construction, we obtained a hierarchical network of eight regulons that were used to map insulin downstream signaling network. Taken together, the results illustrate the benefits of combining completely different methods such as motif-based regulatory factor discovery and expression level-based construction of regulatory network of their target genes in understanding insulin induced biological processes and signaling pathways.

• The Journal of the Korean bone and joint tumor society
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• v.15 no.1
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• pp.87-91
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• 2009

Fibrous dysplasia is a developmental benign disorder in which normal bone is replaced by fibrous tissue. Malignant transformation of fibrous dysplasia is a rare complication and more commonly occur in the polyostotic form than monostotic form. We report a case in which osteosarcoma developed in area of fibrous dysplasia of proximal femur after treating with curettage, wedge osteotomy, internal fixation, and bone graft. A review of the literature is presented.

• Journal of the Korean Home Economics Association
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• v.49 no.7
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• pp.51-66
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• 2011

The purpose of this study was to review the current language level of children from multi-cultural background and whether the language level of these children would be increased after participating in the 'We Start Language Intervention Program'. The subjects were 30 36-75-month old children attending daycare centers in Ansan city, South Korea. The results showed that the receptive and expressive language levels of children from multi-cultural families were low compared to those of other children, and that their expressive language level was evaluated more negatively than their receptive language level. After participating in the 'We Start Language Intervention Program', language test scores, language age and language percentile rank were all increased. It was also found that the developmental language level of multi-cultural children increased, and that of the children that had a language delay or language disorder decreased.

• Restorative Dentistry and Endodontics
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• v.41 no.2
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• pp.148-153
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• 2016

Tooth transposition is a disorder in which a permanent tooth develops and erupts in the normal position of another permanent tooth. Fusion and gemination are developmental disturbances presenting as the union of teeth. This article reports the nonsurgical retreatment of a very rare case of fused teeth with transposition. A patient was referred for endodontic treatment of her maxillary left first molar in the position of the first premolar, which was adjacent to it on the distobuccal side. Orthopantomography and periapical radiography showed two crowns sharing the same root, with a root canal treatment and an associated periapical lesion. Tooth fusion with transposition of a maxillary molar and a premolar was diagnosed. Nonsurgical endodontic retreatment was performed. At four yr follow-up, the tooth was asymptomatic and the radiolucency around the apical region had decreased, showing the success of our intervention. The diagnosis and treatment of fused teeth require special attention. The canal system should be carefully explored to obtain a full understanding of the anatomy, allowing it to be fully cleaned and obturated. Thermoplastic techniques were useful in obtaining hermetic obturation. A correct anatomical evaluation improves the set of treatment options under consideration, leading to a higher likelihood of esthetically and functionally successful treatment.

• Restorative Dentistry and Endodontics
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• v.39 no.4
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• pp.319-323
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• 2014

In dentistry, the term 'fusion' is used to describe a developmental disorder of dental hard tissues. In the permanent dentition, fusion of a normal tooth and a supernumerary tooth usually involves the incisors or canines. However, a few cases of fusion involving premolars have also been reported to date. We present a rare case in which fusion of the maxillary left second premolar and a supernumerary tooth in a 13-year-old girl was diagnosed using cone beam computed tomography (CBCT, Alphard-3030, Asahi Roentgen Ind. Co., Ltd.). The tooth was bicuspidized after routine nonsurgical root canal treatment, and the separated teeth underwent appropriate restoration procedures. The second premolar and supernumerary tooth remained asymptomatic without any signs of inflammation after a follow-up period of 9 years. Identification of anatomical anomalies is important for treatment in cases involving fusion with supernumerary tooth, and therefore the microscopic examinations and CBCT are essential for the diagnosis. Fused teeth can be effectively managed by the comprehensive treatment which includes both endodontic and periodontal procedures.