• 대한수학회보
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• 제55권1호
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• pp.149-163
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• 2018

In recent years, the study of slice Dirac operators has attracted more and more attention in the literature. In this paper, Almansitype decompositions for null solutions to the iterated slice Dirac operator and the generalized slice Dirac operator are obtained without a star-like domain centered at the origin. As applications, we investigate Riquier type problems and Dirichlet type problems in the theory of slice monogenic functions.

• Journal of applied mathematics & informatics
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• 제30권1_2호
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• pp.347-352
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• 2012

In this paper, we denote that $R$ is a near-ring and $G$ an $R$-group. We initiate the study of faithful $R$-group, the substructures of $R$ and $G$, also quotients of substructure relations between them. Next, we investigate some isomorphic properties of near-rings and $R$-groups.

• Childhood Kidney Diseases
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• 제23권2호
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• pp.86-92
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• 2019

Steroid-resistant nephrotic syndrome (SRNS) has long been a challenge for clinicians due to its poor responsiveness to immunosuppressants, and rapid progression to end-stage renal disease. Identifying a monogenic cause for SRNS may lead to a better understanding of podocyte structure and function in the glomerular filtration barrier. This review focuses on genes associated with slit diaphragm, actin cytoskeleton, transcription factors, nucleus, glomerular basement membrane, mitochondria, and other proteins that affect podocyte biology.

• KSBB Journal
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• 제25권3호
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• pp.215-222
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• 2010

Monogenic disease의 치료를 위한 하나의 전략으로 viral vector를 이용한 gene therapy에 비해 독성이 적은 gene targeting 기술을 이용하기 위한 연구가 진행되고 있다. 이러한 연구의 주된 관점은 자연적인 HR의 낮은 효율을 개선하기 위한 DSB 유도 방법으로, 선택성을 높일 수 있는 긴 염기서열의 인식이 가능한 artificial endonuclease의 개발이다. 본 글에서는 이러한 artificial endonuclease 중, 가장 많이 연구 되고 있는 homing endonuclease와 zinc finger nuclease를 간략히 소개하였다. 전자와 후자 모두, 인식 서열에 대한 일정 수준의 tolerance (인식 서열 일부가 특이적이지 않아 다른 염기로 구성된 경우)가 존재하여, 일정한 비율로 다른 target을 절단할 수 있는 가능성이 존재한다. 이러한 점은, meganucleases를 치료 목적으로 이용할 때 세포 독성을 나타내는 근본원인 중 하나이다. 두 종 모두 이러한 특성을 가짐에도 불구하고, 완전한 비자연적인 후자보다는 전자의 경우가 보다 효과적이며 낮은 세포독성을 보이는 것으로 보고되고 있다. 물론 실험 조건이나 적용되는 세포 종류, 인위적인 단백질의 발현 정도에 따라 세포 독성유무 또는 정도에 차이가 나타남이 확인되고 있다. 이러한 사실들에 근거할 때, gene targeting을 유도하기 위한 artificial endonuclease의 서열 특이성을 증대시키는 것이 가장 중요하나, 그 외 여러 인자들에 대한 복합적인 연구 역시 필요함을 보여준다. 현재까지 실제 치료제로 쓰인 예는 없지만, 시험관내에서 보이는 결과와 모델 개체에서 이루어진 표적화정도, 관련된 단백질 치료제들이 지닌 잠재성을 비교할 때 매우 큰 가능성을 지니고 있음은 충분히 확인할 수 있다.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.112-112
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• 2017

Rice blast caused by Magnaporthe oryzae is one of the most serious diseases that affect the quantity and quality of rice production. The use of resistant rice varieties would be the most effective way to control the rice blast. However R gene incorporation into the rice variety takes time and pathogen could overcome the R gene effects after for a while. For monitoring the rice blast resistance gene distribution in Korean varieties, the four major blast resistance genes against M. oryzae were screened in a number of Korean rice varieties using molecular markers. Of the 120 rice varieties tested, 40 were found to contain the Pi-5 gene, 25 for the Pi-9 gene, 79 for Pi-b and 40 for the Pi-ta gene. None of these rice varieties includes tested 4 R genes. 3 R genes combination, Pi-5/Pi-9/Pi-b, Pi-5, Pi-9.Pi-ta, or Pi-9/Pi-b/Pi-ta were found in 12 varieties, the rice blast disease severity were showed as resistant in the rice verities containing Pi-9/Pi-b/Pi-ta R genes combination, respectively. Also pathogenic diversity of M. oryzae isolates collected in the rice field from 2004 to 2015 in rice field in Korea were analyzed using rice blast monogenic lines, each harboring a single blast resistance gene. Compatibility of blast isolates against rice blast monogenic lines carrying the resistance genes Pi5, Pi9, Pib, and Piz showed dynamic changes by year. It indicates that pathogen has high evolutionary potential adapted host resistances to increase fitness and would lead to rice blast resistance bred into the cultivar becoming ineffective eventually.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.7-13
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• 2022

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

• Journal of Animal Science and Technology
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• 제47권3호
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• pp.325-340
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• 2005

Great success has been being achieved in identification and utilization of candidate genes affecting economically important as well as disease related traits in animals for the past two decades. This article reviews the current status of candidate genes in animals, with particular emphasis on the disease causing genes in livestock. Two different types of phenotypes, monogenic and polygenic, are also described. Finally, commercialized animal DNA markers, which can be used for the molecular breeding in near future, are discussed.

• Journal of Korean Neurosurgical Society
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• 제61권3호
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• pp.302-311
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• 2018

Atypical teratoid rhabdoid tumours (ATRTs) are the most common malignant central nervous system tumours in children ${\leq}1year$ of age and represent approximately 1-2% of all pediatric brain tumours. ATRT is a primarily monogenic disease characterized by the bi-allelic loss of the SMARCB1 gene, which encodes the hSNF5 subunit of the SWI/SNF chromatin remodeling complex. Though conventional dose chemotherapy is not effective in most ATRT patients, high dose chemotherapy with autologous stem cell transplant, radiotherapy and/or intrathecal chemotherapy all show significant potential to improve patient survival. Recent epigenetic and transcriptional studies highlight three subgroups of ATRT, each with distinct clinical and molecular characteristics with corresponding therapeutic sensitivities, including epigenetic targeting, and inhibition of tyrosine kinases or growth/lineage specific pathways.

• Clinical and Experimental Pediatrics
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• 제57권11호
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• pp.465-471
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• 2014

Inflammatory bowel disease (IBD) is a chronic relapsing disorder of unknown etiology, which is believed to be multifactorial. Recently, the incidence of pediatric IBD has steeply increased in Korea since 2000. Poorly controlled disease activity can result in complications such as intestinal fistulae, abscess, and stricture, as well as growth retardation and delayed puberty in children. Because of a lack of confirmative tests, various diagnostic modalities must be used to diagnose IBD. Onset age, location, behavior, and activity are important in selecting treatments. Monogenic IBD must be excluded among infantile and refractory very-early-onset IBD. Early aggressive therapy using biologics has recently been proposed for peripubertal children to prevent growth failure and malnutrition.

• Journal of Yeungnam Medical Science
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• 제37권1호
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• pp.13-21
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• 2020

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.