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Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration

Park JK, Youn J, Cho JW

Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in...
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Isolated monocytosis was the flag preceding abnormalities in other parameters of complete blood counts in chronic myeloid leukemia with e1a2 (minor, P190) BCR-ABL1 chimeric transcripts

Yun JW, Yoon J, Kim JW, Kim SH, Jung CW, Kim HJ

Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm with the molecular hallmark of BCR-ABL1 chimeric transcripts from t(9;22)(q24;q22). In more than 95% of CML, the fusion occurs in the major...
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A case of de novo 18p deletion syndrome with panhypopituitarism

Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round...
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Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1

Kim HJ, Na JH, Lee YM

PURPOSE: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is...
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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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TarGo: network based target gene selection system for human disease related mouse models

Hyung D, Mallon AM, Kyung DS, Cho SY, Seong JK

Genetically engineered mouse models are used in high-throughput phenotyping screens to understand genotype-phenotype associations and their relevance to human diseases. However, not all mutant mouse lines with detectable phenotypes are...
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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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Primary Hyperoxaluria in Korean Pediatric Patients

Choe Y, Lee JM, Kim JH, Cho MH, Kim SH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI

BACKGROUND: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR ,...
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Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients

Park CH, Kim YE, Lee KO, Kim SH, Oh KH, Kim I, Oh D, Kim HJ

MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as...
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Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

Azadegan-Dehkordi F, Bahrami T, Shirzad M, Karbasi G, Yazdanpanahi N, Farrokhi E, Koohiyan M, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M

BACKGROUND AND OBJECTIVES: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To...
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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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Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes

Park JS, Son JH, Park CS, Chang HS

For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding...
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Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant

Kim MJ, Lee S, Jekarl DW, Chae H, Kim M, Jung HO, Jeon DS

Pathogenic variants of bone morphogenic protein receptor type 2 gene (BMPR2) are related to the majority of cases of heritable pulmonary arterial hypertension (PAH). Over 400 pathogenic variants have been...
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Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

Lee S, Kim EJ, Cho SI, Park H, Seo SH, Seong MW, Park SS, Jung SE, Lee SC, Park KW, Kim HY

BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be...
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Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel

Lee EH

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign...
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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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Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

Lee CJ, Oum CY, Lee Y, Park S, Kang SM, Choi D, Jang Y, Lee JH, Lee SH

We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from...
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ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease

Kim KY, Bae YS, Ji W, Shin D, Kim HS, Kim DS

PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood....
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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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