Varaico: Literature-Extracted Genetic Variants

Gene:PRND
Variant:p.T174M
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PRND

NM_012409.4:p.T174M

Associated Papers

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5m

Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease.

Zhang J et al.

European Journal of Human Genetics : Ejhg, 2015

Genetic studies in human prion diseases.

Jeong BH et al.

Journal of Korean Medical Science, 2014

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Polymorphisms at codons 129 and 219 of the prion protein gene (PRNP) are not associated with sporadic Alzheimer's disease in the Korean population.

Jeong BH et al.

European Journal of Neurology, 2007

Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients.

Geldermann H et al.

Gene, 2006

Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study.

Vollmert C et al.

Journal of Medical Genetics, 2006

DNA polymorphisms of the prion doppel gene region in four different German cattle breeds and cows tested positive for bovine spongiform encephalopathy.

Balbus N et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2005

The prion gene is associated with human long-term memory.

Papassotiropoulos A et al.

Human Molecular Genetics, 2005

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.

Croes EA et al.

European Journal of Human Genetics : Ejhg, 2004

The human "prion-like" protein Doppel is expressed in both Sertoli cells and spermatozoa.

Peoc'h K et al.

The Journal of Biological Chemistry, 2002

Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease.

Infante J et al.

Neuroscience Letters, 2002

First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases.

Peoc'h K et al.

Neuroscience Letters, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."