• 대한의생명과학회지
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• 제29권3호
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• pp.95-102
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• 2023

The inner ear constitutes a complex organ responsible for auditory perception and equilibrium. It comprises diverse cellular entities operating collaboratively to perceive and transmit sensory information to the brain. Inner ear disease is a sophisticated and multifactorial scenario substantially impacting the quality of life of affected individuals. Gaining insights into the developmental process of the inner ear is crucial for diagnosing and treating inner ear diseases, which can lead to hearing loss and impaired balance. Recent research in inner ear development and associated pathophysiology has focused on several pivotal domains, including identifying new genes and signaling pathways involved in inner ear development, using stem cells for inner ear regeneration, and developing novel therapies for inner ear diseases. Recent advances in genetics research have shed new light on the fundamental etiologies of inner ear diseases, with a growing body of evidence suggesting that genetic mutations might exert a pivotal influence on the development and progression of this condition. In this review, we have delved into certain common genetic mutations linked to inner ear disorders. We also discussed ongoing research endeavors and future directions for understanding the genetic mechanisms underlying this condition and potential therapeutic avenues.

• BMB Reports
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• 제52권8호
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• pp.482-489
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• 2019

Reproductive biotechnology has developed rapidly and is now able to overcome many birth difficulties due to infertility or the transmission of genetic diseases. Here we introduce the next generation of assisted reproductive technologies (ART), such as mitochondrial replacement technique (MRT) or genetic correction in eggs with micromanipulation. Further, we suggest that the transmission of genetic information from somatic cells to subsequent generations without gametes should be useful for people who suffer from infertility or genetic diseases. Pluripotent stem cells (PSCs) can be converted into germ cells such as sperm or oocytes in the laboratory. Notably, germ cells derived from nuclear transfer embryonic stem cells (NT-ESCs) or induced pluripotent stem cells (iPSCs) inherit the full parental genome. The most important issue in this technique is the generation of a haploid chromosome from diploid somatic cells. We hereby examine current science and limitations underpinning these important developments and provide recommendations for moving forward.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.186-189
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• 2007

현재까지 보고 된 유전질환을 포함한 희귀질환은 6000종이 넘으며, 이 중 2007년 12월 현재, 1,500종(임상검사 목적 1,211종과 연구 목적 289)의 유전자 검사가 가능하다. 외국의 경우, 원인 유전자가 밝혀지고 진단이 가능한 모든 유전질환에 대해 착상 전 및 산전 유전자검사가 가능한데 반해, 국내에서는 2005년 제정된 생명윤리 및 안전에 관한 법률 제25조 2항에 의해 착상전 및 산전 유전자검사가 가능한 유전 질환은 63종으로 제한되어 있다. 이 보고에서는, 63종으로 제한된 검사항목에 포함되어 있지 않아 산전 진단을 할 수 없게 된 최근의 증례를 검토하고 문제점과 대안에 대해 논의하였다. X-성염색체 연관 열성질환인 MNK의 보인자로 확진된 L씨(여 38세)는 2명의 자녀를 출산하였는데, 그중 1명은 MNK에 이환된 남아로 출생 후 사망하였다. L씨는 2003년에 산전 유전자검사를 실시하여 정상의 남아를 출산하였다. 현재 임신 중인 L씨는 MNK에 이환된 남아를 또다시 출산할 가능성이 50%로 산전 유전자 검사가 필요하지만, 2005년에 제정된 생명윤리 및 안전에 관한 법률에 의해 산전 유전자검사가 법적으로 불가능하였다. 이 증례는 유전질환 검사항목을 63종으로 제한한 현행법의 문제점과 질환 형평성의 문제점을 실질적으로 보여주고 있다. 질환 명에 상관없이 유전질환의 가족력이 있는 가족에게는 산전 유전자검사에 대한 자기결정의 기회가 제공되어야 할 것이며, 만일, 현행법의 개정이 현실적으로 불가능하다면, MNK처럼 3년 내에 사망에 이르는 등 질병의 정도가 심하며, 효과적인 치료 방법이 없는 질환에 대해서는 산모나 가족이 원하는 경우 전문의의 전문적인 판단에 근거하여 예외가 인정되어야 한다고 사료된다.

• Molecules and Cells
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• 제27권2호
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• pp.175-181
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• 2009

The myosin light chain kinase (MYLK) gene encodes both smooth muscle and nonmuscle cell isoforms. Recently, polymorphisms in MYLK have been reported to be associated with several diseases. To examine the genetic effects of polymorphisms on the risk of asthma and related phenotypes, we scrutinized MYLK by re-sequencing/genotyping and statistical analysis in Korean population (n = 1,015). Seventeen common polymorphisms located in or near exons, having pairwise $r^2$ values less than 0.25, were genotyped. Our statistical analysis did not replicate the associations with the risk of asthma and log-transformed total IgE levels observed among African descendant populations. However, two SNPs in intron 16 (+89872C> G and +92263T> C), which were in tight LD (|D'| = 0.99), revealed significant association with log-transformed blood eosinophil level even after correction multiple testing ($P=0.002/P^{corr}=0.01$ and $P=0.002/P^{corr}=0.01$, respectively). The log-transformed blood eosinophil levels were higher in individuals bearing the minor alleles for +89872C> G and +92263T> C than in those bearing other allele. In additional subgroup analysis, the genetic effects of both SNPs were much more apparent among asthmatic patients and atopic asthma patients. Among atopic asthma patients, the log-transformed blood eosinophil levels were proportionally increased by gene-dose dependent manner of in both +89872C> G and +92263T> C(P = 0.0002 and P = 0.00007, respectively). These findings suggest that MYLK polymorphisms might be among the genetic factors underlying differential increases of blood eosinophil levels among asthmatic patients. Further biological and/or functional studies are needed to confirm our results.

• Journal of Ginseng Research
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• 제41권4호
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• pp.435-443
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• 2017

Panax ginseng is one of the most universally used herbal medicines in Asian and Western countries. Most of the biological activities of ginseng are derived from its main constituents, ginsenosides. Interestingly, a number of studies have reported that ginsenosides and their metabolites/derivatives-including ginsenoside (G)-Rb1, compound K, G-Rb2, G-Rd, G-Re, G-Rg1, G-Rg3, G-Rg5, G-Rh1, G-Rh2, and G-Rp1-exert anti-inflammatory activities in inflammatory responses by suppressing the production of proinflammatory cytokines and regulating the activities of inflammatory signaling pathways, such as nuclear factor-${\kappa}B$ and activator protein-1. This review discusses recent studies regarding molecular mechanisms by which ginsenosides play critical roles in inflammatory responses and diseases, and provides evidence showing their potential to prevent and treat inflammatory diseases.

• 생물정신의학
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• 제1권1호
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• pp.60-66
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• 1994

Advances in molecular biology have renewed hope for the discovery of disease relevant gene. The basic strategy is gene mapping and likely to have on important role in psychiatric research and practice. Recent linkage studies of chromosomal loci to psychiatric diseases shed light on the potential for new genetics in psychiatric science. This article reviews molecular application to psychiatrymethodological issues in genetic linkage, study of gene expression by analysis of mRNA, and current linkage studies in psychiatric diseases.

• Parasites, Hosts and Diseases
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• 제55권5호
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• pp.473-480
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• 2017

Plasmodium vivax merozoite surface protein-1 (PvMSP1) gene codes for a major malaria vaccine candidate antigen. However, its polymorphic nature represents an obstacle to the design of a protective vaccine. In this study, we analyzed the genetic polymorphism and natural selection of the C-terminal 42 kDa fragment within PvMSP1 gene ($PvMSP1_{42}$) from 77 P. vivax isolates, collected from imported cases of China-Myanmar border (CMB) areas in Yunnan province and the inland cases from Anhui, Yunnan, and Zhejiang province in China during 2009-2012. Totally, 41 haplotypes were identified and 30 of them were new haplotypes. The differences between the rates of non-synonymous and synonymous mutations suggest that $PvMSP1_{42}$ has evolved under natural selection, and a high selective pressure preferentially acted on regions identified of $PvMSP1_{33}$. Our results also demonstrated that $PvMSP1_{42}$ of P. vivax isolates collected on China-Myanmar border areas display higher genetic polymorphisms than those collected from inland of China. Such results have significant implications for understanding the dynamic of the P. vivax population and may be useful information towards China malaria elimination campaign strategies.

• Molecules and Cells
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• 제23권2호
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• pp.246-251
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• 2007

Osteoporosis is a common metabolic bone disease characterized by low bone mineral density (BMD) with an increased risk of fracture. Low bone mass results from an imbalance between bone formation by osteoblasts and bone resorption by osteoclasts. Microphthalmia-associated transcription factor (MITF) plays a critical role in osteoclast development and thus is an important candidate gene affecting bone turnover and BMD. In order to investigate the genetic effects of MITF variations on osteoporosis, we directly sequenced the MITF gene in 24 Koreans, and identified fifteen sequence variants. Two polymorphisms (+227719C > T and +228953A > G) were selected based on their allele frequencies, and then genotyped in a larger number of postmenopausal women (n = 560). Areal BMD ($g/cm^2$) of the anterior-posterior lumbar spine and the non-dominant proximal femur was measured by dual-energy X-ray absorptiometry. We found that the MITF + 227719C > T polymorphism was significantly associated with low BMD of the trochanter (p = 0.005-0.006) and total femur (p = 0.02-0.03) (codominant and dominant models), while there was no association with BMD of the lumbar spine. The MITF+228953A > G polymorphism was also associated with low BMD of the femoral shaft (p = 0.05) in the recessive model. Haplotype analysis showed that haplotype 3 of the MITF gene (MITF-ht3) was associated with low BMD of the trochanter (p = 0.03-0.05) and total femur (p = 0.05) (dominant and codominant models). Our results suggest that MITF variants may play a role in the decreased BMD of the proximal femur in postmenopausal women.

• 한국환경복원기술학회지
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• 제10권5호
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• pp.40-50
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• 2007

One-year-old rooted cuttings of ten poplar clones and one willow clone were planted in a riparian area in Osan. Survival rate, growth performance, biomass, vitality, defoliation, leaf damages by diseases and/or insects and stem borer damage of the poplar and willow clones have been investigated for three growing seasons. Average survival rate of all eleven clones was declined from 80.7% for the first year to 60.7% for the third year. At three years after planting, poplar clones Dorskamp, ST-148 and Eco-28 showed the best survival rate of 80%. For height and DBH growth, the poplar clone Ay-48 and the willow clone 131-25 were the highest 8.3m and 9.5cm, respectively. However, poplar clones 72-30 and 72-31 were lower than those of the other clones. Clones Ay-48 and 131-25 seemed to have strong vitality when compare to the other clones. No serious damages by diseases and insects were found in most clones. Clones Ay-48 and ST-148 were the most tolerant to various diseases and insects. Clone Ay-48 produced the largest biomass for individual and annual total biomass, 22.5kg and 18.7ton $ha^{-1}$, respectively. Clone Dorskamp showed the best adaptability, which was estimated with survival rate, biomass and damages by various diseases and insects in the riparian area and followed by clones Ay-48, 97-19 and Eco-28. As a consequence, the four clones seemed to be the best candidate poplar clones for the establishment of riparian woody buffer.

• Tuberculosis and Respiratory Diseases
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• 제83권1호
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• pp.1-13
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• 2020

For the past three decades, more than a thousand of genetic studies have been performed to find out the genetic variants responsible for the risk of asthma. Until now, all of the discovered single nucleotide polymorphisms have explained genetic effects less than initially expected. Thus, clarification of environmental factors has been brought up to overcome the 'missing' heritability. The most exciting solution is epigenesis because it intervenes at the junction between the genome and the environment. Epigenesis is an alteration of genetic expression without changes of DNA sequence caused by environmental factors such as nutrients, allergens, cigarette smoke, air pollutants, use of drugs and infectious agents during pre- and post-natal periods and even in adulthood. Three major forms of epigenesis are composed of DNA methylation, histone modifications, and specific microRNA. Recently, several studies have been published on epigenesis in asthma and allergy as a powerful tool for research of genetic heritability in asthma albeit epigenetic changes are at the starting point to obtain the data on specific phenotypes of asthma. In this presentation, we mainly review the potential role of DNA CpG methylation in the risk of asthma and its sub-phenotypes including nonsteroidal anti-inflammatory exacerbated respiratory diseases.