• Asian-Australasian Journal of Animal Sciences
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• 제12권7호
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• pp.1129-1134
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• 1999

The rapid development of the sheep genetic linkage map over the last five years has given us the ability to follow the inheritance of chromosomal regions. Initially this powerful resource was used to find markers linked to monogenic traits but there is now increasing interest in using the genetic linkage map to define the complex of genes that control multigenic production traits. Of particular interest are those production traits that are difficult to measure and select for using classical quantitative genetic approaches. These include resistance to disease where a disease challenge (necessary for selection) poses too much risk to valuable stud animals and meat and carcass qualities which can be measured only after the animal has been slaughtered. The goal for the new millennium will be to fully characterise the genetic basis of multigenic production traits. The genetic linkage map is a vital tool required to achieve this.

• 한국동물학회:학술대회논문집
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• 한국동물학회 2001년도 한국생물과학협회 학술발표대회
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• pp.107.2-108
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• 2001

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• Clinical Nutrition Research
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• 제12권1호
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• pp.40-53
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• 2023

Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

• Childhood Kidney Diseases
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• 제26권1호
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• pp.40-45
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• 2022

Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제14권1호
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• pp.1-25
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• 2011

Inflammatory bowel disease (IBD) develops during childhood or adolescence in approximately 25% of patients with IBD. Recent studies on pediatric IBD have revealed that early-onset IBD has distinct phenotype differences compared to adult onset IBD. Pediatric early-onset IBD differs in many aspects including disease type, location of the lesions, disease behavior, gender preponderance and genetically attributable risks. This review examines the currently published data on the clinical, epidemiological and genetic differences between early-onset and adult-onset IBD. And finally, therapeutic considerations in the management of pediatric-onset IBD are also discussed.

• Asian-Australasian Journal of Animal Sciences
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• 제24권1호
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• pp.28-36
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• 2011

To investigate the genetic diversity of six Chinese indigenous pig breeds in Shandong province (Laiwu Black, Dapulian Black, Licha Black, Yantai Black, Yimeng Black and Wulian Black), explain their genetic relationship and assess their integrity and degree of admixture with three Western commercial breeds (Landrace, Yorkshire and Duroc), 303 individuals from these breeds were genotyped for 26 microsatellite markers. In general, high genetic diversity (observed heterozygosity ranging from 0.5495 to 0.7746) and large breed differentiation ($F_{ST}$ = 0.188) were observed. The indigenous pig breeds in Shandong exhibited consistently higher levels of genetic diversity than the three Western breeds. However, compared with the Western breeds, which have an $F_{ST}$ value of 0.252, the indigenous breeds in Shandong have smaller $F_{ST}$ value of 0.145. The analysis of breed relationship indicated that the six indigenous breeds are classified into two groups. One includes four breeds, Licha, Yantai, Yimeng and Wulian, which have experienced large gene introgression of the Western breeds through progressive crossbreeding as well as gene flow among themselves. The other includes Laiwu and Dapulian, which are less influenced by the Western breeds and other indigenous breeds in Shandong in the recent past. The results show that some measures must be taken to effectively protect these indigenous pig breeds in Shandong.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.1-5
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• 2015

De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.

• 대한치매학회지
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• 제17권4호
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• pp.131-136
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• 2018

Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1, INPP5D, MEF2C, MS4A6A/MS4A4E, NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1. ABCA7, SORL1, TREM2, and APOE are proved to have high odds ratio (>2) in risk of AD using next generation sequencing studies. Thanks to the promising genetic techniques such as CRISPR-CAS9 and single-cell RNA sequencing opened a new era in genetics. CRISPR-CAS9 can directly link genetic knowledge to future treatment. Single-cell RNA sequencing are providing useful information on cell biology and pathogenesis of diverse diseases.

• 한국멀티미디어학회논문지
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• 제24권4호
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• pp.519-527
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• 2021

Alzheimer's disease is one of the challenges to tackle in the coming aging era and is attempting to diagnose and predict through various biomarkers. While the application of various deep learning-based technologies as powerful imaging technologies has recently expanded across the medical industry, empirical design is not easy because there are various deep earning neural networks architecture and categorical hyperparameters that rely on problems and data to solve. In this paper, we show the possibility of optimizing a deep learning neural network structure and hyperparameters for Alzheimer's disease classification in amyloid brain images in a representative deep earning neural networks architecture using genetic algorithms. It was observed that the optimal deep learning neural network structure and hyperparameter were chosen as the values of the experiment were converging.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.83-93
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• 2021

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.