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10.1007/s00401-013-1193-7 http://scihub22266oqcxt.onion/10.1007/s00401-013-1193-7 24121548/?report=reader!3943649!24121548     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Acta+Neuropathol 2014 ; 127 (2): 271-82 Nephropedia Template TP {{tp|p=24121548|t=2014. Novel mutation in MAPT exon 13 (p N410H) causes corticobasal degeneration |pdf=|usr=}}{{24121548}} gab.com Text Novel mutation in MAPT exon 13 (p N410H) causes corticobasal degeneration JO: Acta Neuropathol http://www.kidney.de/pget.php?&tw=1&pmid=24121548 #FOAvip In order to determine the frequency of microtubule-associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3' untranslated region (3'UTR) in a large cohort of autopsy-confirmed CBD patients (N = 109). This identified a novel MAPT mutation in exon 13, p.N410H, in a case that is neuropathologically indistinguishable from sporadic CBD. On immunoblot, the p.N410H mutation carrier had the same insoluble tau profile as seen in CBD. Additionally, tau expression analysis in brain tissue found a significant increase in the 4R/3R tau mRNA ratio (P = 0.04), indicating that p.N410H disrupts tau isoform homeostasis. Biochemically, recombinant tau protein with p.N410H showed a marked increase in tau filament formation compared to wild-type tau (P < 0.001), had a 19.2% decrease in rate of microtubule assembly (P < 0.05), and a 10.3% reduction in the extent of total microtubule polymerization (P < 0.01). Sequence analysis of the complete MAPT 3'UTR in autopsy-confirmed CBD cases further identified two rare variants with nominally significant association with CBD. An ATC nucleotide insertion ("MAPTv8") was found in 4.6% of CBD patients compared to 1.2% of controls (P = 0.031, OR = 3.71), and rs186977284 in 4.6% CBD patients, but only 0.9% of controls (P = 0.04, OR = 3.58). Rs186977284 was also present in 2.7% of a large cohort of autopsy-confirmed PSP patients (N = 566) and only 0.9% of an additional control series (P = 0.034, OR = 3.08), extending the association to PSP. Our findings show that mutations in MAPT can cause CBD and MAPT non-coding variants may increase the risk of complex 4R tauopathies. Twit Text FOAVip Novel mutation in MAPT exon 13 (p N410H) causes corticobasal degeneration ????Acta Neuropathol http://www.kidney.de/pget.php?&tw=1&pmid=24121548 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24121548 #FOAvip English Wikipedia <ref>{{Cite pmid|24121548}}</ref> Novel mutation in MAPT exon 13 (p N410H) causes corticobasal degeneration #MMPMID24121548 Kouri N; Carlomagno Y; Baker M; Liesinger AM; Caselli RJ; Wszolek ZK; Petrucelli L; Boeve BF; Parisi JE; Josephs KA; Uitti RJ; Ross OA; Graff-Radford NR; DeTure MA; Dickson DW; Rademakers R Acta Neuropathol 2014[Feb]; 127 (2): 271-82 PMID24121548show ga In order to determine the frequency of microtubule-associated protein tau gene (MAPT) mutations and rare variants in CBD, we performed a systematic sequence analysis of MAPT coding and 3' untranslated region (3'UTR) in a large cohort of autopsy-confirmed CBD patients (N = 109). This identified a novel MAPT mutation in exon 13, p.N410H, in a case that is neuropathologically indistinguishable from sporadic CBD. On immunoblot, the p.N410H mutation carrier had the same insoluble tau profile as seen in CBD. Additionally, tau expression analysis in brain tissue found a significant increase in the 4R/3R tau mRNA ratio (P = 0.04), indicating that p.N410H disrupts tau isoform homeostasis. Biochemically, recombinant tau protein with p.N410H showed a marked increase in tau filament formation compared to wild-type tau (P < 0.001), had a 19.2% decrease in rate of microtubule assembly (P < 0.05), and a 10.3% reduction in the extent of total microtubule polymerization (P < 0.01). Sequence analysis of the complete MAPT 3'UTR in autopsy-confirmed CBD cases further identified two rare variants with nominally significant association with CBD. An ATC nucleotide insertion ("MAPTv8") was found in 4.6% of CBD patients compared to 1.2% of controls (P = 0.031, OR = 3.71), and rs186977284 in 4.6% CBD patients, but only 0.9% of controls (P = 0.04, OR = 3.58). Rs186977284 was also present in 2.7% of a large cohort of autopsy-confirmed PSP patients (N = 566) and only 0.9% of an additional control series (P = 0.034, OR = 3.08), extending the association to PSP. Our findings show that mutations in MAPT can cause CBD and MAPT non-coding variants may increase the risk of complex 4R tauopathies. |Alleles[MESH] |Autopsy[MESH] |Case-Control Studies[MESH] |Cohort Studies[MESH] |Exons/*genetics[MESH] |Female[MESH] |Genotype[MESH] |Humans[MESH] |Middle Aged[MESH] |Mutation/*genetics[MESH] |Neurodegenerative Diseases/*genetics[MESH] |Polymorphism, Single Nucleotide/genetics[MESH] |Tauopathies/*genetics[MESH]Novel mutation in MAPT exon 13 (p N410H) causes corticobasal degenerat(epmc).pdf DeepDyve Pubget Overpricing