- Genetic Studies in Human Prion Diseases
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Jeong BH, Kim YS
- KMID: 1786101
- J Korean Med Sci.
- 2014 May;29(5):623-632.
- doi: 10.3346/jkms.2014.29.5.623
Human prion diseases are fatal neurodegenerative disorders that are characterized by spongiform changes, astrogliosis, and the accumulation of an abnormal prion protein (PrP(Sc)). Approximately 10%-15% of human prion diseases are... -
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- No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population
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Ahn K, Kim E, Kwon YA, Kim DK, Lee JE, Jo SA
- KMID: 1115951
- Exp Mol Med.
- 2006 Dec;38(6):727-731.
The polymorphism at codon 129 (M129V) of the human prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD) in Caucasians. There are few reports of this... -
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- Identification of single-nucleotide polymorphisms of the prion protein gene in sika deer (Cervus nippon laiouanus)
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Jeong HJ, Lee JB, Park SY, Song CS, Kim BS, Rho JR, Yoo MH, Jeong YH, Kim YS, Choi IS
- KMID: 1090807
- J Vet Sci.
- 2007 Sep;8(3):299-301.
- doi: 10.4142/jvs.2007.8.3.299
Polymorphisms of the prion protein gene (PRNP) havebeen detected in several cervid species. In order toconfirm the genetic variations, this study examined theDNA sequences of the PRNP obtained from 33... -
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- Sequence variations of the bovine prion protein gene (PRNP) in native Korean Hanwoo cattle
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Choi S, Woo HJ, Lee J
- KMID: 1376186
- J Vet Sci.
- 2012 Jun;13(2):127-137.
- doi: 10.4142/jvs.2012.13.2.127
Bovine spongiform encephalopathy (BSE) is one of the fatal neurodegenerative diseases known as transmissible spongiform encephalopathies (TSEs) caused by infectious prion proteins. Genetic variations correlated with susceptibility or resistance to... -
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- Familial Creutzfeldt-Jakob Disease with V180I Mutation
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Yang TI, Jung DS, Ahn BY, Jeong BH, Cho HJ, Kim YS, Na DL, Geschwind , Kim EJ
- KMID: 1792966
- J Korean Med Sci.
- 2010 Jul;25(7):1097-1100.
- doi: 10.3346/jkms.2010.25.7.1097
Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion... -
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- Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland
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Peletto S, Perucchini M, Acin C, Dalgleish , Reid HW, Rasero R, Sacchi P, Stewart P, Caramelli , Ferroglio , Bozzetta E, Meloni D, Orusa R, Robetto S, Gennero S, Goldmann W, Acutis PL
- KMID: 1102967
- J Vet Sci.
- 2009 Jun;10(2):115-120.
- doi: 10.4142/jvs.2009.10.2.115
The genetics of the prion protein gene (PRNP) play a crucial role in determining the relative susceptibility to transmissible spongiform encephalopathies (TSEs) in several mammalian species. To determine the PRNP... -
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