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Identification of the associations between genes and quantitative traits using entropy-based kernel density estimation

Yee J, Park T, Park M

Genetic associations have been quantified using a number of statistical measures. Entropy-based mutual information may be one of the more direct ways of estimating the association, in the sense that...
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The Mediating Effect of Psychological Distress on the Association between BDNF, 5-HTTLPR, and Tinnitus Severity

Jeong JE, Jeon S, Han JS, Cho EY, Hong KS, Park SN, Kim JJ

Objective To investigate the association between genetic polymorphisms of brain-derived neurotrophic factor (BDNF) or serotonin transporter gene-linked polymorphic region (5-HTTLPR) and tinnitus, and the mediating effects of psychological distress on...
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Characteristics of Interstitial Deletion in Chromosome 4q Confirmed by Array Comparative Genomic Hybridization: A Case Report and Literature Review

Chung WY, Lee SJ, Kim HR, Jun KR

Chromosome 4q deletion syndrome is a rare disease caused by partial deletion of the long arm of chromosome 4. Phenotypic severity and expressivity vary among patients with chromosome 4q deletions,...
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Comprehensive Molecular Characterization of Urological Malignancies: Literature Review of Landmark Studies

Suh J, Jeong CW

Owing to recent advancements in next-generation sequencing and bioinformatics, genetic data of urological malignancies exponentially studied and published. Application of precision medicine strategies for cancer diagnosis, management is just around...
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Associations of Ubiquitin-Specific Protease Genes with Resilience and Social Anxiety in Healthy Youths

Seo JH, Park CI, Kim SJ, Kang JI

OBJECTIVE: Dynamic proteolysis, through the ubiquitin-proteasome system, is an important molecular mechanism for the constant regulation of synaptic plasticity and stress responses in humans. In this study, we examined whether...
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Possible Association of the Ubiquitin-Specific Peptidase 46 Gene (USP46) with Affective Temperamental Traits in Healthy Korean Volunteers

Boo YJ, Park CI, Kim HW, Kim SJ, Kang JI

OBJECTIVE: Ubiquitin-specific peptidase 46 gene (USP46) polymorphisms is part of ubiquitin-proteasome system, which is responsible for dynamic cellular processes such as the regulation of cell cycle. USP46 has been reported...
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Integration of a Large-Scale Genetic Analysis Workbench Increases the Accessibility of a High-Performance Pathway-Based Analysis Method

Lee S, Park T

The rapid increase in genetic dataset volume has demanded extensive adoption of biological knowledge to reduce the computational complexity, and the biological pathway is one well-known source of such knowledge....
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Association between a Genetic Variant of CACNA1C and the Risk of Schizophrenia and Bipolar I Disorder Across Diagnostic Boundaries

Lee B, Baek JH, Cho EY, Yang SY, Choi YJ, Lee YS, Ha K, Hong KS

OBJECTIVES: Genome-wide association studies (GWASs) and meta-analyses indicate that single-nucleotide polymorphisms (SNPs) in the a-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) gene increase the risk for schizophrenia and...
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Association of G-Protein β3 Subunit C825T Polymorphism with Seasonal Variations in Mood and Behavior

Nam YJ, Cho CH, Kim L, Lee HJ

OBJECTIVE: Seasonal affective disorder and seasonal changes in mood and behavior are associated with several genes that regulate circadian rhythms. In this study, we investigated the relationship between the C825T...
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Prevalence, Patterns, and Genetic Association Analysis of Modic Vertebral Endplate Changes

Kanna RM, Shanmuganathan R, Rajagopalan VR, Natesan S, Muthuraja , Cheung KM, Chan D, Kao PY, Yee A, Shetty AP

STUDY DESIGN: A prospective genetic association study. PURPOSE: The etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However,...
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Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract

Lee KH, Gee HY, Shin JI

The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies...
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Multiple Group Testing Procedures for Analysis of High-Dimensional Genomic Data

Ko H, Kim K, Sun H

In genetic association studies with high-dimensional genomic data, multiple group testing procedures are often required in order to identify disease/trait-related genes or genetic regions, where multiple genetic sites or variants...
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Association of Polymorphisms within the Serotonin Receptor Genes 5-HTR1A, 5-HTR1B, 5-HTR2A and 5-HTR2C and Migraine Susceptibility in a Turkish Population

Yücel Y, Coşkun S, Cengiz B, Özdemir H, Uzar E, Çim A, Camkurt MA, Aluclu MU

OBJECTIVE: Migraine, a highly prevelant headache disorder, is regarded as a polygenic multifactorial disease. Serotonin (5-HT) and their respective receptors have been implicated in the patogenesis. METHODS: We investigated the 5-HT1A,...
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Association Study of ANK3 Polymorphism and Risk of Schizophrenia

Yang SY, Huh IS, Cho EY, Choi MJ, Park T, Lee YS, Hong KS

OBJECTIVES: Previous genome-wide association studies have indicated the association between ankyrin 3 (ANK3) and the vulnerability of schizophrenia. We investigated the association between single nucleotide polymorphisms (SNPs) covering the whole...
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Genetics of Cerebral Small Vessel Disease

Choi JC

Cerebral small vessel disease (SVD) is an important cause of stroke and cognitive impairment among the elderly and is a more frequent cause of stroke in Asia than in the...
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Novel genes in Human Asthma Based on a Mouse Model of Allergic Airway Inflammation and Human Investigations

Temesi G, Virag V, Hadadi E, Ungvari I, Fodor LE, Bikov A, Nagy A, Galffy G, Tamasi L, Horvath I, Kiss A, Hullam G, Gezsi A, Sarkozy P, Antal P, Buzas E, Szalai C

PURPOSE: Based on a previous gene expression study in a mouse model of asthma, we selected 60 candidate genes and investigated their possible roles in human asthma. METHODS: In these candidate...
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Stroke Genetics: A Review and Update

Lindgren A

Stroke genetics includes several topics of clinical interest, including (1) molecular genetic variations affecting risk of monogenic stroke syndromes; (2) molecular genetic variations affecting risk of common stroke syndromes, sometimes...
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Genetics of Ossification of the Posterior Longitudinal Ligament of the Spine: A Mini Review

Ikegawa S

Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common disease in aging populations and sometimes results in serious neurological problems due to compression of the spinal...
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The Insertion/Deletion Polymorphism of Angiotensin I Converting Enzyme Gene is Associated With Ossification of the Posterior Longitudinal Ligament in the Korean Population

Kim DH, Yun DH, Kim HS, Min SK, Yoo SD, Lee KH, Kim KT, Jo DJ, Kim SK, Chung JH, Ban JY, Lee SY

OBJECTIVE: To determine whether ACE insertion/deletion (I/D) polymorphism is associated with the ossification of the posterior longitudinal ligament (OPLL) of the spine in the Korean population. METHODS: A case-control study was...
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Molecular Genetic Mechanisms of Chronic Urticaria

Losol P, Yoo HS, Park HS

Chronic urticaria (CU) is a common allergic skin disease that requires long-term pharmacological treatment. Some patients with severe CU suffer a poor quality of life. Although the pathogenic mechanisms of...
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