• Journal of Interdisciplinary Genomics
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• v.3 no.2
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• pp.30-34
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• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

• Anxiety and mood
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• v.5 no.1
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• pp.3-7
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• 2009

In this article, we review research on how normal personality traits and personality disorder traits may relate to anxiety disorders ; as predisposing factors, 2) as complications, 3) as pathoplastic factors, and 4) as manifestations of common underlying etiologies. Based on current literatures, we draw a conclusion as follows : 1) Normal personality traits such as high neuroticism and low extraversion and personality disorder traits, especially cluster C traits, are at least risk factors for certain anxiety disorders ; 2) Anxiety disorders in early life might influence a later development of personality disorder ; 3) Personality disorder traits may have negative influence on the outcome of anxiety disorders ; 4) Personality and anxiety disorders may be manifestations of common genetic and environmental etiologies.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.160-172
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• 2005

Attention-Deficit/Hyperactivity Disorder(ADHD) is the most common neurodevelopmental disorder in child psychiatry. The etiology or ADHD is not completely understood, but involved in genetical and/or neurocognitive deficits. This article reviews the current state of the literature pertaining to the neurodevelopmental aspects of ADHD. Although the neurodevelopment of ADHD remains unclear, emerging evidence documents its genetic and neurobiologic underpinnings. A pathophysiology of ADHD has not been fully characterized, although genetic, neurobiologic, neuroimaging, and neuropsychological studies of ADHD consistently implicates dysfunction in the fronto-subcortical network and abnormality in the dopaminergic and noradnergic systems. Furthermore some suggests that the timing of aberrant brain development in ADHD could be in early gestation and genetic and/or early environmental influences on brain development in ADHD are fixed, nonprogressive. Although many studies provide evidences for the important or psychosocial or environmental adversities in ADHD, they may be not specific predictors of ADHD but nonspecific triggers of an underlying predisposition or modifiers of the course of disorder.

• Korean Journal of Biological Psychiatry
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• v.11 no.2
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• pp.146-154
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• 2004

Objective:Attention deficit hyperactivity disorder(ADHD) is the most common childhood psychiatric disorder, affecting 3-5% of school-aged children. Although the biological basis of ADHD is unknown, family studies provide strong evidence that ADHD has a genetic basis. Recent genetic studies have suggested associations between ADHD and serotonin 1B(5HT1B) receptor gene G861C polymorphism. The aim of this study is to test for the association between ADHD and 5HT1B receptor gene G861C polymorphism in Korean population. Method:We processed DNA extraction and genotyping. 106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test(TDT) and haplotype-based haplotype relative risk (HHRR). And the ADHD children were compared with 212 age and gender matched normal controls. Results:There was no statistical difference of distributions between ADHD cases and controls. We did not observe any preferential transmission of alleles of 5HT1B receptor gene G861C polymorphism in ADHD. Conclusions:Though there is the possibility of failing to detect small genetic effects, our results show no evidence of an association between ADHD and 5HT1B receptor gene G861C polymorphism in the Korean population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to ADHD.

• Journal of Computing Science and Engineering
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• v.10 no.4
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• pp.111-117
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• 2016

An accurate approach for diagnosis of attention deficit hyperactivity disorder (ADHD) is presented in this paper. The presented technique efficiently classifies three subtypes of ADHD (ADHD-C, ADHD-H, ADHD-I) and typically developing control (TDC) by using only structural magnetic resonance imaging (MRI). The research examines structural MRI of the hippocampus from the ADHD-200 database. Each available MRI has been processed by a region-of-interest (ROI) to build a set of features for further analysis. The presented ADHD diagnostic approach unifies feature selection and classification techniques. The feature selection technique based on the proposed binary-coded genetic algorithm searches for an optimal subset of features extracted from the hippocampus. The classification technique uses a chosen optimal subset of features for accurate classification of three subtypes of ADHD and TDC. In this study, the famous Extreme Learning Machine is used as a classification technique. Experimental results clearly indicate that the presented BCGA-ELM (binary-coded genetic algorithm coupled with Extreme Learning Machine) efficiently classifies TDC and three subtypes of ADHD and outperforms existing techniques.

• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2007.10a
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• pp.195-197
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• 2007

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.935-943
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• 2008

Attention deficit hyperactivity disorder (ADHD) is a neurobehavioral developmental disorder characterized by a persistent pattern of inattention and/or hyperactivity, as well as forgetfulness, poor impulse control or impulsivity, and distractibility. The recommended evaluation includes documenting the type and severity of ADHD symptoms, verifying the presence of normal vision and hearing, screening for comorbid psychological conditions, reviewing the child's developmental history and school performance, and applying objective measures of cognitive function. Prevailing opinion characterizes ADHD as a disorder of executive function attributable to abnormal dopamine transmission in the frontal lobes and frontostriatal circuitry. A clearly defined etiology remains unknown, but studies suggest a strong genetic link. The aim of treatment is to decrease symptoms, enhance functionality, and improve well-being for the child and his or her close contacts. Stimulants remain the pharmacological agents of first choice for the management of ADHD, and psychosocial, behavioral and educational strategies that enhance specific behaviors may improve educational and social functioning in children with ADHD.

• Clinical and Experimental Pediatrics
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• v.57 no.4
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• pp.157-163
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• 2014

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in genes encoding surfactant-associated molecules have confirmed this. Specific genetic variants contributing to the regulation of pulmonary development, its structure and function, or the inflammatory response could be candidate risk factors for the development of RDS. This review summarizes the background that suggests the genetic predisposition of RDS, the identified mutations, and candidate genetic polymorphisms of pulmonary surfactant proteins associated with RDS.

• BMB Reports
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• v.48 no.12
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• pp.647-654
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• 2015

Energy homeostasis in our body system is maintained by balancing the intake and expenditure of energy. Excessive accumulation of fat by disrupting the balance system causes overweight and obesity, which are increasingly becoming global health concerns. Understanding the pathogenesis of obesity focused on studying the genes related to familial types of obesity. Recently, a rare human genetic disorder, ciliopathy, links the role for genes regulating structure and function of a cellular organelle, the primary cilium, to metabolic disorder, obesity and type II diabetes. Primary cilia are microtubule based hair-like membranous structures, lacking motility and functions such as sensing the environmental cues, and transducing extracellular signals within the cells. Interestingly, the subclass of ciliopathies, such as Bardet-Biedle and Alström syndrome, manifest obesity and type II diabetes in human and mouse model systems. Moreover, studies on genetic mouse model system indicate that more ciliary genes affect energy homeostasis through multiple regulatory steps such as central and peripheral actions of leptin and insulin. In this review, we discuss the latest findings in primary cilia and metabolic disorders, and propose the possible interaction between primary cilia and the leptin and insulin signal pathways which might enhance our understanding of the unambiguous link of a cell's antenna to obesity and type II diabetes.