• Title/Summary/Keyword: Monogenic

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Recent Advances in Sheep Genome Mapping

  • Crawford, A.M.
    • Asian-Australasian Journal of Animal Sciences
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    • v.12 no.7
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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.

Toxicity of the Adenoviral Vector Mediated Gene Therapy (아데노바이러스 유전자치료제의 독성)

  • Chung, In-Jae
    • Environmental Analysis Health and Toxicology
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    • v.24 no.1
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    • pp.71-77
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    • 2009
  • Adenoviral vector(AdV) has been the most widely used viral vector for delivering an exogenous therapeutic gene to human. As of this date, more clinical trials utilize recombinant AdV to treat cancer and monogenic inherited disease as well as vaccine applications. However, the number of clinical trials had dropped markedly following the tragic death of a patient ongoing an AdV therapy for the treatment of an ornithine transcarbamylase deficiency(OTCD). This review is an attempt to provide the information on toxicity generated by AdVmediated gene transfer. It would serve as a sobering reality to researchers and clinicians exploring the use of AdV, as to the complications involved in human application.

Current Status of the Clinical Development of Gene Therapy

  • Kwon, Sun-Il
    • Biomedical Science Letters
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    • v.24 no.3
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    • pp.157-167
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    • 2018
  • The concept of gene therapy is to treat a disease by transferring therapeutic nucleic acids to a patient's cells. It took several decades from the basic theoretical proposal of gene therapy to the current promising treatment option for some important human diseases. The encountered adverse effects in the early clinical studies boosted the development of sophisticated vectors and elaborate clinical designs. The gene therapy is now considered to have the potential to cure many diseases that are incurable with conventional medications. By the end of 2017, about 2,600 clinical trials of gene therapy have been performed or are ongoing for a variety of diseases such as cancers, monogenic diseases, cardiovascular diseases and neurological diseases etc. Here, we present a brief introduction of technical achievement in relation to gene therapy development, and a review of the current status of global gene therapy clinical development.

Maturity-onset Diabetes of the Young: Update on Diagnosis and Treatment

  • Jang, Kyung Mi
    • Journal of Interdisciplinary Genomics
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    • v.3 no.1
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    • pp.1-6
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    • 2021
  • Maturity-onset diabetes of the young (MODY) is characterized by a heterogeneous group of monogenic diabetes. MODY has autosomal dominant inheritance, a primary defect in pancreatic β-cell, and an early onset. Discriminating MODY from type 1 or type 2 diabetes is often challenging at first. To date, 14 different disease causing mutations have been identified in MODY patients worldwide. Targeted DNA sequencing is the gold standard to diagnose MODY and their asymptomatic relatives. Next-generation sequencing may help successfully to diagnose MODY patients and identify new MODY genes. In this review, the current perspectives on diagnosis and treatment of MODY and discrepancy in the disease-causing mutations between the Asian and Caucasian patients with MODY are summarized.

Clinical Aspects and Treatments for Pediatric Inflammatory Bowel Diseases

  • Moon, Jin Soo
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.1
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    • pp.50-56
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    • 2019
  • The incidence of pediatric inflammatory bowel disease (IBD) is increasing worldwide, especially in the developing countries. It differs from adult disease in clinical manifestations, especially with regard to genetic predisposition in monogenic IBD. Pediatric disease also have a tendency to show more aggressive inflammation and greater extent of lesion. Newer drugs such as anti-tumor necrosis factor ${\alpha}$ have been known to make a difference in treating pediatric IBD. Recent studies suggested that the patients with high risk factors might have some benefits from earlier use of biologics. To achieve treatment goals such as relieving symptoms, optimizing growth, and improving quality of life while minimizing drug toxicity, more research is needed to develop tools for risk stratification in the use of biologics for pediatric IBD.

A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

  • So, Min-Kyung;Huh, Jungwon;Kim, Hae Soon
    • Journal of Genetic Medicine
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    • v.18 no.2
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    • pp.132-136
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    • 2021
  • Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the absence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense variant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

SZEGÖ PROJECTIONS FOR HARDY SPACES IN QUATERNIONIC CLIFFORD ANALYSIS

  • He, Fuli;Huang, Song;Ku, Min
    • Bulletin of the Korean Mathematical Society
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    • v.59 no.5
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    • pp.1215-1235
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    • 2022
  • In this paper we study Szegö kernel projections for Hardy spaces in quaternionic Clifford analysis. At first we introduce the matrix Szegö projection operator for the Hardy space of quaternionic Hermitean monogenic functions by the characterization of the matrix Hilbert transform in the quaternionic Clifford analysis. Then we establish the Kerzman-Stein formula which closely connects the matrix Szegö projection operator with the Hardy projection operator onto the Hardy space, and we get the matrix Szegö projection operator in terms of the Hardy projection operator and its adjoint. At last, we construct the explicit matrix Szegö kernel function for the Hardy space on the sphere as an example, and get the solution to a Diriclet boundary value problem for matrix functions.

The segregation mode of plant height in the crosses of rice varieties 1. Indica X Indica crosses (수도 품종간 교잡에 있어서의 초장의 유전 분리 1. Indica x Indica 조합)

  • Heu, Mun-Hue;Beachell, H.M.;Chang, T.T.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.5 no.1
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    • pp.37-43
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    • 1969
  • A genetrc study was made on plant height of indica rices with a few segregating F2 populations involving three semi-dwarf varieties such as T(N)I, CP231-SLO17, and B569A12. These populations were grown in breeding nursery at the International Rice Research Institute (IRRI) during several seasons. 20 to 25 day old seedlings grown at upland seedbed were transplanted to the paddy in a single plant hill spacing 30 cm ${\times}$ 25cm. Measurements of plant height were made from the juncture between culm and roots to the tip of the longest panicle of a plant pulled out from the paddy when they are matured. The results are summarized as follows: 1. Tall indica varieties originated from the south-east Asian countries could be classified into two groups depending upon their allelism whether they showed monogenic segregating ratio of 3:1 or not when they were crossed to T(N)1. 2. Most of U.S. varieties, especially semi-dwarf breedirg materials such as CP231 ${\times}$ SIO17 and B569A12, did not show monogenic segregating mode of 3:1 ratio when they were crossed to T(N)1 or to other varieties bearing the same genetic allele of T(N)1 such as Peta and Sigadis.

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Infrared Target Recognition using Heterogeneous Features with Multi-kernel Transfer Learning

  • Wang, Xin;Zhang, Xin;Ning, Chen
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.14 no.9
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    • pp.3762-3781
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    • 2020
  • Infrared pedestrian target recognition is a vital problem of significant interest in computer vision. In this work, a novel infrared pedestrian target recognition method that uses heterogeneous features with multi-kernel transfer learning is proposed. Firstly, to exploit the characteristics of infrared pedestrian targets fully, a novel multi-scale monogenic filtering-based completed local binary pattern descriptor, referred to as MSMF-CLBP, is designed to extract the texture information, and then an improved histogram of oriented gradient-fisher vector descriptor, referred to as HOG-FV, is proposed to extract the shape information. Second, to enrich the semantic content of feature expression, these two heterogeneous features are integrated to get more complete representation for infrared pedestrian targets. Third, to overcome the defects, such as poor generalization, scarcity of tagged infrared samples, distributional and semantic deviations between the training and testing samples, of the state-of-the-art classifiers, an effective multi-kernel transfer learning classifier called MK-TrAdaBoost is designed. Experimental results show that the proposed method outperforms many state-of-the-art recognition approaches for infrared pedestrian targets.

Systematic Development of Tomato BioResources in Japan

  • Ariizumi, Tohru;Aoki, Koh;Ezura, Hiroshi
    • Interdisciplinary Bio Central
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    • v.3 no.1
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    • pp.1.1-1.6
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    • 2011
  • Recently, with the progress of genome sequencing, materials and information for research on tomato (Solanum lycopersicum) have been systematically organized. Tomato genomics tools including mutant collections, genome sequence information, full-length cDNA and metabolomic datasets have become available to the research community. In Japan, the National BioResource Project Tomato (NBRP Tomato) was launched in 2007, with aims to collect, propagate, maintain and distribute tomato bioresources to promote functional genomics studies in tomato. To this end, the dwarf variety Micro-Tom was chosen as a core genetic background, due to its many advantages as a model organism. In this project, a total of 12,000 mutagenized lines, consisting of 6000 EMS-mutagenized and 6000 gamma-ray irradiated M2 seeds, were produced, and the M3 offspring seeds derived from 2236 EMS-mutagenized M2 lines and 2700 gamma-ray irradiated M2 lines have been produced. Micro-Tom mutagenized lines in the M3 generation and monogenic Micro-Tom mutants are provided from NBRP tomato. Moreover, tomato cultivated varieties and its wild relatives, both of these are widely used for experimental study, are available. In addition to these bioresources, NBRP Tomato also provides 13,227 clones of full-length cDNA which represent individual transcripts non-redundantly. In this paper, we report the current status of NBRP Tomato and its future prospects.