• Title/Summary/Keyword: Phenotypes

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What Holds the Future of Quantitative Genetics? - A Review

  • Lee, Chaeyoung
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.2
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    • pp.303-308
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    • 2002
  • Genetic markers engendered by genome projects drew enormous interest in quantitative genetics, but knowledge on genetic architecture of complex traits is limited. Complexities in genetics will not allow us to easily clarify relationship between genotypes and phenotypes for quantitative traits. Quantitative genetics guides an important way in facing such challenges. It is our exciting task to find genes that affect complex traits. In this paper, landmark research and future prospects are discussed on genetic parameter estimation and quantitative trait locus (QTL) mapping as major subjects of interest.

Insight into the prognostic factors of chronic inflammatory demyelinating polyneuropathy

  • Baek, Seol-Hee
    • Annals of Clinical Neurophysiology
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    • v.22 no.1
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    • pp.8-12
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    • 2020
  • Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated neuropathy with heterogeneous features. Appropriate treatment will produce a favorable outcome, but a poor treatment response and severe disability have also been reported. The roles of the clinical phenotypes and electrophysiological features of CIDP as well as of autoantibodies against nodal and paranodal proteins have been highlighted previously due to their association with the treatment response and long-term prognosis. This review addresses the diverse factors associated with the prognosis of CIDP.

Genetic breeding of fast-growing autotransgenic mud loach, Misgurnus mizolepis

  • Kim, Dong-Soo;Nam, Yoon-Kwon
    • Proceedings of the Korean Society of Fisheries Technology Conference
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    • 2001.10a
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    • pp.25-25
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    • 2001
  • Generation of transgenic fish acquiring the ability to express desirable phenotypes offers new possibilities for addressing fundamental biological questions, and can also attribute to enhanced aquaculture productivity. I describe here the recent research progress in my laboratory with particular emphasis on the development of fast-growing autotransgenic fish and its chromosome-set manipulation using our experimental organism, the mud loach, Misgurnus mizolepis. (omitted)

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Asthma Year in Review (호흡기내과 의사를 위한 천식 리뷰)

  • Kim, Sang-Ha
    • Tuberculosis and Respiratory Diseases
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    • v.69 no.6
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    • pp.411-417
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    • 2010
  • This review highlights articles pertaining to the following 5 topics: the relationship between asthma, allergic and non-allergic rhinitis; the novel asthma phenotypes using cluster analysis; the diagnostic properties of inhaled dry-powder mannitol for the diagnosis of asthma; the value of mepolizumab therapy in exacerbations of refractory eosinophilic asthma; the role of bronchial thermoplasty in the treatment of severe asthma.

Oral ulcerative and vesicular diseases (구강궤양 및 수포성 질환)

  • Byun, Jin-Seok
    • The Journal of the Korean dental association
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    • v.55 no.9
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    • pp.634-639
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    • 2017
  • Oral ulcerative and/or vesicular diseases have similar characteristics of clinical phenotypes. Detailed and careful history taking is the cornerstone of the diagnosis of oral mucosal disease. Moreover, complete screening of review of system for patient is important. Through this article, the simple ulcerative, recurrent ulcerative, acute multiple ulcer, chronic multiple ulcerative diseases will be discussed. Clinicians have to keep in mind its differential diagnosis and management.

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Genetics of Prader-Willi Syndrome

  • Yoon, Ju Young
    • Journal of Interdisciplinary Genomics
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    • v.3 no.2
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    • pp.35-40
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    • 2021
  • Prader-Willi syndrome (PWS) is a rare genetic disorder which lead to severe neurodevelopmental, endocrine, and metabolic impairment. PWS is genetic disorder related to genomic errors which lead to inactivation of paternally-inherited genes on chromosome 15q11-q13. Epigenetic mechanisms are also involved in PWS, and epigenetic therapies are under investigation. Here we provide review about genetics of PWS, focused on genes involved in pathophysiology of PWS. We will also summarize epigenetics and genetic counseling of PWS.

Familial congenital myopathy with prominent decremental responses in repetitive nerve stimulation testing

  • Kim, Dayoung;Sunwoo, Il Nam;Oh, Jeeyoung
    • Annals of Clinical Neurophysiology
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    • v.23 no.1
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    • pp.53-55
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    • 2021
  • Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.