Results 31 to 40 of about 8,758 (210)

A Case of Dementia With PRNP D178Ncis-129M and No Insomnia [PDF]

Alzheimer Disease & Associated Disorders, 2009
To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia.Polymerase chain reaction amplification and subsequent direct sequencing of PGRN, MAPT, PSEN1, PSEN2, APP, and PRNP genes.A point mutation (D178N) was found in the PRNP gene.The mutation D178N in the PRNP gene ...
Rita J, Guerreiro, Tina, Vaskov, Cynthia, Crews, Andrew, Singleton, John, Hardy   +4 more
openaire   +2 more sources

Evidence for a pathogenic role of different mutations at codon 188 of PRNP [PDF]

, 2008
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance.
Eva-Maria Grasbon-Frodl, Hans A Kretzschmar, Roeber, Sigrun, Arzberger, Thomas, Sigrun Roeber, Weber Petra, Krebs, Bjarne, Schröter, Andreas, Petra Weber, Illig, T., Zerr, I., Schröter, A., Arzberger, T., Illig Thomas, Windl, Otto, Bjarne Krebs, Wei Xiang, Hans A. Kretzschmar, Schroeter, Andreas, Kretzschmar, H.A., Inga Zerr, Grasbon-Frodl, Eva-Maria, Weber, Petra, Windl, O., Zerr, Inga, Schröter Andreas, Kretzschmar, Hans A., Xiang, W., Xiang Wei, Illig, Thomas, Zerr Inga, Thomas Illig, Vollmert, C., Grasbon-Frodl Eva-Maria, Kretzschmar Hans A., Caren Vollmert, Weber, P., Krebs Bjarne, Grasbon-Frodl, E.M., Krebs, B., Vollmert Caren, Vollmert, Caren, Roeber Sigrun, Xiang, Wei, Arzberger Thomas, Roeber, S., Windl Otto, Andreas Schröter, Otto Windl, Thomas Arzberger   +49 more
core   +1 more source

Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland [PDF]

, 2009
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.
Acutis, Pier Luigi, Pier Luigi Acutis, Ezio Ferroglio, Simone Peletto, Hugh W. Reid, Perucchini, Matteo, Serena Robetto, Acin, Cristina, Bozzetta, Elena, Reid, Hugh W., Dalgleish, Mark P., Orusa, Riccardo, Elena Bozzetta, Ferroglio, Ezio, Sacchi, Paola, Paula Stewart, Daniela Meloni, Wilfred Goldmann, Meloni, Daniela, Gennero, Silvia, Riccardo Orusa, Roberto Rasero, Rasero, Roberto, Cristina Acín, Matteo Perucchini, Mark P. Dalgleish, Goldmann, Wilfred, Stewart, Paula, Maria Caramelli, Silvia Gennero, Caramelli, Maria, Robetto, Serena, Peletto, Simone, Paola Sacchi   +33 more
core   +1 more source

Genotype patterns and characteristics of PRNP in the Korean population [PDF]

Prion, 2012
Creutzfeldt-Jakob disease (CJD), included in the human transmissible spongiform encephalopathies (TSE), is widely known to be caused by an abnormal accumulation of misfolding prion protein in the brain. Human prion protein gene (PRNP) is mapped in chromosome 20p13 and many single nucleotide polymorphisms (SNPs) in PRNP have been discovered.
Sol, Moe Lee, Young, Ran Ju, Bo-Yeong, Choi, Jae, Wook Hyeon, Jun, Sun Park, Chi, Kyeong Kim, Su, Yeon Kim   +6 more
openaire   +2 more sources

Association of a bovine prion gene haplotype with atypical BSE. [PDF]

PLoS ONE, 2008
BACKGROUND: Atypical bovine spongiform encephalopathies (BSEs) are recently recognized prion diseases of cattle. Atypical BSEs are rare; approximately 30 cases have been identified worldwide. We tested prion gene (PRNP) haplotypes for an association with
Michael L Clawson, Juergen A Richt, Thierry Baron, Anne-Gaëlle Biacabe, Stefanie Czub, Michael P Heaton, Timothy P L Smith, William W Laegreid   +7 more
doaj   +1 more source

State-of-the-art review of goat TSE in the European Union, with special emphasis on PRNP genetics and epidemiology [PDF]

, 2009
Scrapie is a fatal, neurodegenerative disease of sheep and goats. It is also the earliest known member in the family of diseases classified as transmissible spongiform encephalopathies (TSE) or prion diseases, which includes Creutzfeldt-Jakob disease in ...
Olivier Andreéoletti, Groschup, Martin H., Simone Peletto, Foster, James, Barillet, F., Acin, Cristina, Pierluigi Acutis, Peletto, S., Langeveld, J., Theodoros Sklaviadis, Keulen, L.J.M., van, Bossers, Alex, Vaccari, G., Van Keulen, Lucien, Foster, J., Acin, C., Cristina Acin, Andreoletti, O., Jan Langeveld, Goldmann, Wilfred, Umberto Agrimi, Sklaviadis, T., Vaccari, Gabriele, Langeveld, Jan, van Keulen, L., Groschup, M.H., Peletto, Simone, Bossers, A., Gabriele Vaccari, James Foster, Panagiotidis, C.H., Cynthia H. Panagiotidis, Alex Bossers, Badiola, J. J., Badiola, J.J., van Keulen, L.J.M., Juan J. Badiola, Francis Barillet, Sklaviadis, Theodoros, Barillet, Francis, Langeveld, J.P.M., Wilfred Goldmann, Panagiotidis, Cynthia H., Acutis, Pierluigi, Andreeoletti, O., Badiola, Juan J., Goldmann, W., Panagiotidis, C. H., Groschup, M. H., Andreoletti, Olivier, Acutis, P., Agrimi, Umberto, Lucien Van Keulen, Martin H. Groschup, Agrimi, U.   +54 more
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PRNP expression in breast cancer tissues.

, 2023
Compared with normal breast tissue, a significantly reduced PRNP expression was found in (A) GSE21422, (B) GSE31192, (C) TCGA-BRCA, and (D) GEPTA2. (E) The verification of down-regulated expression of PRNP using the TNM-plot database.
Changwei Lin (630203), Jiaqing He (1499947), Liying Song (2802685), Xiaopei Tong (9562448)   +3 more
core   +1 more source

Selected Prnp gRNAs induce Cas9-mediated cleavage within the Prnp ORF.

, 2022
(A) Agarose gel image showing that recCas9 cleaves a half-genomic Prnp expression construct (MoPrP.Xho.wt) when Prnp gRNA–1 is present. A cleavage product of the expected size is indicated by the red arrow.
Serene Wohlgemuth (114866), Luis Arce (12822236), David Westaway (43210), Andrew R. Castle (12822233)   +3 more
core   +1 more source

Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP [PDF]

Neurology Genetics, 2021
Spastic paraparesis is a very rare manifestation of prion diseases, occurring in both sporadic prion disease1 and inherited prion disease.2 The D178N mutation in the prion protein ( PRNP ) gene is associated with familial fatal insomnia (FFI) or familial Creutzfeldt-Jakob disease (fCJD),3 and in some cases, FFI and fCJD overlap.4,5 Herein, we describe ...
Thams, Sebastian, Paucar, Martin, Wingård, Louise, Thonberg, Håkan, Smith, Colin; id_orcid 0000-0002-4507-5132, Nennesmo, Inger, Svenningsson, Per   +6 more
openaire   +3 more sources

A sequencing strategy for identifying variation throughout the prion gene of BSE-affected cattle

BMC Research Notes, 2008
Background Classical and atypical bovine spongiform encephalopathies (BSEs) are cattle prion diseases. Distinct bovine prion gene (PRNP) alleles have been associated with classical and atypical BSE susceptibility.
Harhay Gregory P, Smith Timothy PL, Keele John W, Heaton Michael P, Clawson Michael L, Richt Juergen A, Laegreid William W   +6 more
doaj   +1 more source