Relevant bibliographies by topics / M129V Polymorphismus

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Academic literature on the topic 'M129V Polymorphismus'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 February 2022

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Journal articles on the topic "M129V Polymorphismus"

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Golanska, Ewa, Monika Sieruta, Elizabeth Corder, Sylwia M. Gresner, Anna Pfeffer, Malgorzata Chodakowska-Zebrowska, Tomasz M. Sobow, et al. "The prion protein M129V polymorphism." Prion 7, no. 3 (May 2013): 244–47. http://dx.doi.org/10.4161/pri.23903.

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Kosorinova, Dana, Girma Belay, Dana Zakova, Martin Stelzer, and Eva Mitrova. "Genetic Risk Factors of Creutzfeldt-Jakob Disease in the Population of Newborns in Slovakia." Pathogens 10, no. 4 (April 6, 2021): 435. http://dx.doi.org/10.3390/pathogens10040435.

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The most frequent human prion disease is Creutzfeldt–Jakob disease (CJD). It occurs as sporadic (sCJD), genetic (gCJD), iatrogenic (iCJD) form and as variant CJD. The genetic form represents about 10–15% of confirmed cases worldwide, in Slovakia as much as 65–75%. Focal accumulation of gCJD was confirmed in Orava region. The most common point mutation of the prion protein gene (PRNP) is E200K. CJD has a long asymptomatic phase and it is not known when the carriers of the mutation E200K become infectious. Precautions to prevent iCJD are focused especially on clinical CJD cases, but asymptomatic CJD-specific mutation carriers cannot be excluded, and represent a potential genetic CJD-risk group. The aim of this study was to determine the occurrence, frequency and geographic distribution of the E200K mutation among the newborns, comparing the areas of focal accumulation of gCJD with extra-focal ones, as well as distribution of the polymorphism M129V of the PRNP gene. A total of 2915 samples of dry blood spots from anonymous newborns were analyzed. We used RealTime PCR method to determine the presence of the E200K mutation and the M129V polymorphism. Genetic testing revealed 13 carriers of the E200K mutation. Investigation of the M129V polymorphism affirmed higher representation of methionine homozygotes (48% MM, 44% MV, 8% VV). Achieved results fully confirmed our previous observations concerning both the specific and nonspecific genetic CJD risk among the Slovak general population. The 48% of methionine homozygotes and 4 carriers of the E200K mutation among 1000 live-born children in Slovakia underline the benefits of genetic testing.
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Buchmann, Andreas, Christian R. A. Mondadori, Jürgen Hänggi, Amanda Aerni, Pascal Vrticka, Roger Luechinger, Peter Boesiger, et al. "Prion protein M129V polymorphism affects retrieval-related brain activity." Neuropsychologia 46, no. 9 (July 2008): 2389–402. http://dx.doi.org/10.1016/j.neuropsychologia.2008.03.002.

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Teupser, Daniel, Norman Heino, Wolfgang Wilfert, and Joachim Thiery. "Rapid detection of the prion protein M129V polymorphism with the LightCycler." Journal of Neuroscience Methods 115, no. 1 (March 2002): 93–96. http://dx.doi.org/10.1016/s0165-0270(02)00008-0.

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Palmirotta, Raffaele, Giorgia Ludovici, Gabriella Egeo, Cristiano Ialongo, Cinzia Aurilia, Luisa Fofi, Maria Laura De Marchis, David Della-Morte, Piero Barbanti, and Fiorella Guadagni. "Prion Protein Gene M129V Polymorphism and Variability in Age at Migraine Onset." Headache: The Journal of Head and Face Pain 53, no. 3 (February 13, 2013): 540–45. http://dx.doi.org/10.1111/head.12043.

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Vega, Ana, Clara Ruiz-Ponte, Ángel Carracedo, and Francisco Barros. "Rapid Genotyping of the M129V Polymorphism of Prion Protein Using Real-Time Fluorescent PCR." Clinical Chemistry 47, no. 10 (October 1, 2001): 1874–75. http://dx.doi.org/10.1093/clinchem/47.10.1874.

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Dyrbye, Henrik, Helle Broholm, Morten Hanefeld Dziegiel, and Henning Laursen. "The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population." European Journal of Epidemiology 23, no. 1 (November 7, 2007): 23–27. http://dx.doi.org/10.1007/s10654-007-9197-z.

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8

Scholz, Sonja W., Georgia Xiromerisiou, Hon C. Fung, Johanna Eerola, Olli Hellström, Alexandros Papadimitriou, Georgios M. Hadjigeorgiou, et al. "The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations." Neuroscience Letters 395, no. 3 (March 2006): 227–29. http://dx.doi.org/10.1016/j.neulet.2005.10.081.

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9

Dorigo-Zetsma, J. Wendelien, Berry Wilbrink, Jacob Dankert, and Sebastian A. J. Zaat. "Mycoplasma pneumoniae P1 Type 1- and Type 2-Specific Sequences within the P1 Cytadhesin Gene of Individual Strains." Infection and Immunity 69, no. 9 (September 1, 2001): 5612–18. http://dx.doi.org/10.1128/iai.69.9.5612-5618.2001.

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ABSTRACT Mycoplasma pneumoniae strains traditionally are divided into two types, based on sequence variation in the P1 gene. Recently, however, we have identified 8 P1 subtypes by restriction fragment length polymorphism analysis. In the present study the P1 gene sequences of three P1 type 1 and two P1 type 2 M. pneumoniae strains were analyzed. A new P1 gene sequence in a type 1 strain with partial similarity to a recently reported variable region in the P1 gene of an M. pneumoniae type 2 strain (T. Kenri, R. Taniguchi, Y. Sasaki, N. Okazaki, M. Narita, K. Izumikawa, M. Umetsu, and T.Sasaki, Infect. Immun. 67:4557–4562, 1999) was identified. In addition, the P1 gene of the type 1 strain contained another region with nucleotide polymorphisms identical to a stretch in the P1 gene of one of our type 2 strains. These findings indicate that recombination between sequences specific for P1 type 1 and type 2 had occurred and that P1 type 1 and type 2 hybrid sequences can be present within the P1 gene of an individual strain. Identical or nearly identical variable P1 gene sequences were present in several repetitive regions outside the P1 gene locus in the genome of M. pneumoniae strain M129, implying recombination as a mechanism for generation of the P1 gene variation. Additionally, in the P1 gene sequences of four of the five strains studied, single-nucleotide polymorphisms different from the previously reported P1 type 1 and 2 characteristic sequences were identified. The polymorphic sites are candidate targets for genotyping of M. pneumoniae by direct sequencing of amplicons from clinical specimens.
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Choi, Ihn-Geun, Sung-Il Woo, Ho Jin Kim, Dai-Jin Kim, Byung Lae Park, Hyun Sub Cheong, Charisse Flerida A. Pasaje, et al. "Lack of Association betweenPRNPM129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population." Disease Markers 28, no. 5 (2010): 315–21. http://dx.doi.org/10.1155/2010/196538.

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The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association ofPRNP*129Valwith multiple sclerosis (MS,n= 681), mild cognitive impairment (MCI,n= 801), alcoholism (n= 761) and schizophrenia (n= 715) in a Korean population, and compared the data with previous genetic association studies of the variant. The minor allele frequency ofPRNP*129Val(MAF = 0.025) was significantly lower in Korean population (n= 2,479) compared to Caucasian populations (P< 0.0001), suggestive of a weak influence of the variant in the previous population. Statistical analysis revealed no significant association betweenPRNP*129Valand MS (P = 0.76), MCI (P = 0.46), alcoholism (P = 0.84) and schizophrenia (P = 0.69). These findings were discussed in the context of prior inconsistent reports on the role ofPRNP*129Valpolymorphism in several diseases. Results from this study may provide further evidence thatPRNP M129Vis not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.
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Dissertations / Theses on the topic "M129V Polymorphismus"

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Kaune, Judith (Jansen). "Erstsymptom, Erstdiagnose und ärztlicher Erstkontakt bei Patienten mit sporadischer Creutzfeldt-Jakob-Krankheit in Deutschland." Doctoral thesis, 2014. http://hdl.handle.net/11858/00-1735-0000-0022-5E1C-4.

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Hintergrund: Die sporadische Creutzfeldt-Jakob-Krankheit (sCJK) ist eine seltene neurodegenerative Erkrankung. Bisher existieren nur wenige Studien im Hinblick auf das Initialstadium der Erkrankung. Ziel dieser Studie war es unter Berücksichtigung des M129V-Genotyps und des Prionproteintyps maximal zwei Erstsymptome begrenzt auf einen Zeitraum von 2 Wochen, den ärztlichen Erstkontakt und die erste fachärztliche Diagnose zu erfassen. Material und Methoden: In der vorliegenden Dissertation wurden retrospektiv Akten von 492 Patienten mit einer neuropathologisch gesicherten oder klinisch wahrscheinlichen sCJK ausgewertet, die im Zeitraum von 1993 bis 2003 an das Göttinger Surveillance-Zentrum für CJK gemeldet worden waren. Bei 204 Patienten des Gesamtkollektivs war zusätzlich der Prionproteintyp bekannt. Mithilfe eines Dokumentationsbogens wurden die relevanten Parameter erfasst und statistisch ausgewertet. Ergebnisse: Zehn Prozent aller Patienten klagten über Prodromalsymptome wie Kopfschmerz, Müdigkeit, gestörte Schlaf-Wach-Rhythmik, Summen bzw. "komisches Gefühl im Kopf", Hörstörungen, Gewichtsverlust oder Photophobie. Patienten mit dem Subtyp MV-2 oder VV-1 gaben keine Prodromalsymptome an. Das häufigste Erstsymptom stellte die Demenz (37%) dar, gefolgt von zerebellären (34%), visuellen (15%) oder psychiatrischen (14%) Symptomen. Fünfzehn Prozent berichteten innerhalb von 2 Wochen bereits über 2 Erstsymptome. Als erster ärztlicher Kontakt wurde der Hausarzt (41%) aufgesucht, gefolgt vom niedergelassenen Neurologen (17%) oder einem Krankenhaus (13%), unabhängig von der Spezialisierung der Abteilung. Die fachärztliche Erstdiagnose lautete nur in 35% der Fälle CJK (in 42% bei MM-Patienten, 28% bei MV-Patienten, 25% bei VV-Patienten). Die Meldung eines CJK-Verdachtsfalles an das Göttinger CJK-Surveillance-Zentrum erfolgte überwiegend durch Neurologen, gefolgt von Psychiatern oder von anderen Berufsgruppen. Diskussion: Diese erste detaillierte Analyse von Erstsymptomen und ärztlichen Erstkontakten unterstreicht, wie relevant das Wissen von CJK und den atypischen CJK-Subtypen für Ärzte verschiedener Fachrichtungen ist. Hieraus entsteht die Hoffnung, dass in Zukunft insbesondere auch atypische CJK-Formen frühzeitig erkannt werden können.
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Book chapters on the topic "M129V Polymorphismus"

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"Creutzfeldt–Jacob Disease M129V Polymorphism." In Encyclopedia of Medical Genomics and Proteomics, 305–8. CRC Press, 2004. http://dx.doi.org/10.1081/e-emgp-120020534.

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2

Kreil, Thomas R., Hans Peter Schwarz, and Friedrich Dorner. "Creutzfeldt–Jacob Disease M129V Polymorphism." In Encyclopedia of Medical Genomics and Proteomics, 305–8. Informa Healthcare, 2004. http://dx.doi.org/10.3109/9780203997352.062.

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