Literature DB >> 8644754

Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients.

R Petraroli, M Pocchiari.   

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Year:  1996        PMID: 8644754      PMCID: PMC1914686     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  16 in total

1.  Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies.

Authors:  M Poulter; H F Baker; C D Frith; M Leach; R Lofthouse; R M Ridley; T Shah; F Owen; J Collinge; J Brown
Journal:  Brain       Date:  1992-06       Impact factor: 13.501

2.  CJD discrepancy.

Authors:  K Doh-ura; T Kitamoto; Y Sakaki; J Tateishi
Journal:  Nature       Date:  1991-10-31       Impact factor: 49.962

3.  Codon 129 changes in the prion protein gene in Caucasians.

Authors:  F Owen; M Poulter; J Collinge; T J Crow
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

4.  Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease.

Authors:  J Collinge; M S Palmer; A J Dryden
Journal:  Lancet       Date:  1991-06-15       Impact factor: 79.321

5.  Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease.

Authors:  M S Palmer; A J Dryden; J T Hughes; J Collinge
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

6.  Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).

Authors:  R Gabizon; H Rosenmann; Z Meiner; I Kahana; E Kahana; Y Shugart; J Ott; S B Prusiner
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

7.  Creutzfeldt-Jakob disease with codon 129 polymorphism (valine): a comparative study of patients with codon 102 point mutation or without mutations.

Authors:  M Miyazono; T Kitamoto; K Doh-ura; T Iwaki; J Tateishi
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

8.  The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype.

Authors:  J A Hainfellner; S Brantner-Inthaler; L Cervenáková; P Brown; T Kitamoto; J Tateishi; H Diringer; P P Liberski; H Regele; M Feucht
Journal:  Brain Pathol       Date:  1995-07       Impact factor: 6.508

9.  Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

Authors:  L G Goldfarb; R B Petersen; M Tabaton; P Brown; A C LeBlanc; P Montagna; P Cortelli; J Julien; C Vital; W W Pendelbury
Journal:  Science       Date:  1992-10-30       Impact factor: 47.728

10.  New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome.

Authors:  H Furukawa; T Kitamoto; Y Tanaka; J Tateishi
Journal:  Brain Res Mol Brain Res       Date:  1995-06
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  9 in total

1.  Multiple substitutions of methionine 129 in human prion protein reveal its importance in the amyloid fibrillation pathway.

Authors:  Sofie Nyström; Rajesh Mishra; Simone Hornemann; Adriano Aguzzi; K Peter R Nilsson; Per Hammarström
Journal:  J Biol Chem       Date:  2012-06-05       Impact factor: 5.157

2.  Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.

Authors:  Byung-Hoon Jeong; Kyung-Hee Lee; Nam-Ho Kim; Jae-Kwang Jin; Jae-Il Kim; Richard I Carp; Yong-Sun Kim
Journal:  Neurogenetics       Date:  2005-10-11       Impact factor: 2.660

3.  Polymorphisms of the prion protein gene (PRNP) in a Korean population.

Authors:  Byung-Hoon Jeong; Jae-Hwan Nam; Yun-Jung Lee; Kyung-Hee Lee; Myoung-Kuk Jang; Richard I Carp; Ho-Dong Lee; Young-Ran Ju; Sangmee Ahn Jo; Keun-Yong Park; Yong-Sun Kim
Journal:  J Hum Genet       Date:  2004-05-18       Impact factor: 3.172

Review 4.  Genetic studies in human prion diseases.

Authors:  Byung-Hoon Jeong; Yong-Sun Kim
Journal:  J Korean Med Sci       Date:  2014-04-25       Impact factor: 2.153

5.  Lack of association between PRNP 1368 polymorphism and Alzheimer's disease or vascular dementia.

Authors:  Byung-Hoon Jeong; Kyung-Hee Lee; Yun-Jung Lee; Yun Joong Kim; Eun-Kyoung Choi; Young-Hoon Kim; Young-Sook Cho; Richard I Carp; Yong-Sun Kim
Journal:  BMC Med Genet       Date:  2009-04-08       Impact factor: 2.103

6.  Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.

Authors:  Temu Qina; Nobuo Sanjo; Masaki Hizume; Maya Higuma; Makoto Tomita; Ryuichiro Atarashi; Katsuya Satoh; Ichiro Nozaki; Tsuyoshi Hamaguchi; Yosikazu Nakamura; Atsushi Kobayashi; Tetsuyuki Kitamoto; Shigeo Murayama; Hiroyuki Murai; Masahito Yamada; Hidehiro Mizusawa
Journal:  BMJ Open       Date:  2014-05-16       Impact factor: 2.692

Review 7.  Epidemiological characteristics of human prion diseases.

Authors:  Cao Chen; Xiao-Ping Dong
Journal:  Infect Dis Poverty       Date:  2016-06-02       Impact factor: 4.520

8.  Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats.

Authors:  Min-Ju Jeong; Yong-Chan Kim; Byung-Hoon Jeong
Journal:  PLoS One       Date:  2018-10-25       Impact factor: 3.240

9.  Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Authors:  Zhen Zheng; Meilan Zhang; Yongheng Wang; Rongsheng Ma; Chenyun Guo; Liubin Feng; Jihui Wu; Hongwei Yao; Donghai Lin
Journal:  Sci Rep       Date:  2018-09-04       Impact factor: 4.379

  9 in total

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