• 대한생식의학회:학술대회논문집
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• 대한불임학회 2004년도 제46차 춘계학술대회
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• pp.31-38
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• 2004

• Journal of Genetic Medicine
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• 제12권1호
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• pp.19-24
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• 2015

Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders. These include stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia and specific language impairment. Among these disorders, stuttering is the most common speech disorder characterized by disruptions in the normal flow of speech. Twin, adoption, and family studies have suggested that genetic factors are involved in susceptibility to stuttering. For several decades, multiple genetic studies including linkage analysis were performed to connect causative gene to stuttering, and several genetic studies have revealed the association of specific gene mutation with stuttering. One notable genetic discovery came from the genetic studies in the consanguineous Pakistani families. These studies suggested that mutations in the lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG and NAPGA) are associated with non-syndromic persistent stuttering. Although these studies have revealed some clues in understanding the genetic causes of stuttering, only a small fraction of patients are affected by these genes. In this study, we summarize recent advances and future challenges in an effort to understand genetic causes underlying stuttering.

• 대한유전성대사질환학회지
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• 제13권2호
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• pp.75-80
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• 2013

Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

• Genomics & Informatics
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• 제14권3호
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• pp.70-77
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• 2016

Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propagated successfully in the human and non-human primate genomes. Alu element is a non-autonomous retrotransposon and therefore retrotransposed using L1-enzyme machinery. The 'master gene' model has been generally accepted to explain Alu element amplification in primate genomes. According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. Alu element is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. The genomic rearrangements caused by Alu elements could lead to genetic disorders such as hereditary disease, blood disorder, and neurological disorder. In fact, Alu elements are associated with approximately 0.1% of human genetic disorders. The first part of this review discusses mechanisms of Alu amplification and diversity among different Alu subfamilies. The second part discusses the particular role of Alu elements in generating genomic rearrangements as well as human genetic disorders.

• BMB Reports
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• 제51권7호
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• pp.327-337
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• 2018

Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy. In this review, we briefly overview the relevance of genetic mutations of Lamin A, human disorders and laminopathies. We also discuss a mouse model for genetic diseases. Finally, we describe the current treatment for laminopathies.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.12-18
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• 2015

Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified based on the disruption of developmental processes such as proliferation, migration, and organization. Molecular genetic studies of MCD have improved our understanding of these disorders at a molecular level beyond the clinical classification. These recent advances are resulted from the development of massive parallel sequencing technology, also known as next-generation sequencing (NGS), which has allowed researchers to uncover novel molecular genetic pathways associated with inherited or de novo mutations. Although an increasing number of disease-related genes or genetic variations have been identified, genotype-phenotype correlation is hampered when the biological or pathological functions of identified genetic variations are not fully understood. To elucidate the causality of genetic variations, in vivo disease models that reflect these variations are required. In the current review, we review the use of NGS technology to identify genes involved in MCD, and discuss how the functions of these identified genes can be validated through in vivo disease modeling.

• 대한불안의학회지
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• 제15권2호
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• pp.122-126
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• 2019

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 genetic variants in the ubiquitin-specific peptidase (USP) genes were associated with psychological traits of resilience and susceptibility to neuropsychiatric disorders for each gender. Methods : A total of 344 Korean healthy youths (190 males, 154 females) were included in the study. A genotyping of rs2241646 of USP2 and rs346006 of USP46 was performed. The Connor-Davidson Resilience Scale and Brief Fear of Negative Evaluation Scale were administered for measuring trait resilience and social anxiety, respectively. The genetic associations of the USP variants were tested using multiple analyses of covariance with psychological traits as dependent variables after controlling for age in each gender. Results : For USP2 rs2241646, women with the TT genotype showed significantly higher resilience and lower social anxiety, as compared to those carrying the C allele. There were no associations between USP46 rs346005 and the psychological traits in both genders. Conclusions : The present study showed a possible genetic association between the USP2 rs2241646 and stress resilience and trait anxiety in women. The findings suggest that ubiquitin-proteasome system may be related to the resilience and susceptibility to stress-related neuropsychiatric disorders such as anxiety disorders, possibly through the regulation of dynamic proteolysis responses to stress.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.26-30
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• 2016

Purpose: Genetic disorders can be prevented by basic public health measures and activities that focus primarily on education and approaches in Primary Health Care. Premarital screening is one such approach that can identify asymptomatic carriers of hemoglobinopathies and provide genetic counseling to couples for a healthy reproductive life. This study aimed to estimate the prevalence of beta thalassemia and sickle cell disorders in the adult population screened as a part of the United Arab Emirates Premarital Screening Program and to measure the effectiveness of the program in decreasing high-risk marriages in Ras Al Khaimah (RAK). Materials and Methods: A retrospective, population-based study was conducted at the RAK Primary Health Care Center, where the National Premarital Screening Program is implemented. The study included data collected from the premarital screening records of all couples who had applied for a marriage license during 2008-2015. Results: Of the 17,826 individuals screened during the studied period, 4.02% (717) were diagnosed as positive for hemoglobinopathies. The prevalence of beta thalassemia and sickle cell disorders among the total study population was 2.98% and 1.05%, respectively. The hemoglobinopathy trait was more prevalent than the disease. Among these 8,913 couples who were issued certificates for compatibility based on screening tests, 28 (0.31%) couples were declared high-risk (unmatched). Seventy percent of these unmatched couples reported consanguineous marriages. Conclusion: The program was successful in achieving its objective of identifying high-risk marriages. In spite of the counseling, however, all of the high-risk couples still married each other.

• Childhood Kidney Diseases
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• 제14권2호
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• pp.120-131
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• 2010

Renal tubular acidosis (RTA) is a metabolic acidosis due to impaired excretion of hydrogen ion, or reabsorption of bicarbonate, or both by the kidney. These renal tubular abnormalities can occur as an inherited disease or can result from other disorders or toxins that affect the renal tubules. Disorders of bicarbonate reclamation by the proximal tubule are classified as proximal RTA, whereas disorders resulting from a primary defect in distal tubular net hydrogen secretion or from a reduced buffer trapping in the tubular lumen are called distal RTA. Hyperkalemic RTA may occur as a result of aldosterone deficiency or tubular insensitivity to its effects. The clinical classification of renal tubular acidosis has been correlated with our current physiological model of how the nephron excretes acid, and this has facilitated genetic studies that have identified mutations in several genes encoding acid and base ion transporters. Growth retardation is a consistent feature of RTA in infants. Identification and correction of acidosis are important in preventing symptoms and guide approved genetic counseling and testing.

• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.