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Can Network Analysis Identify Pathological Pathways in Alzheimer’s

WEBINAR 2013-06-04 See Q&A with panelists below In the April 25 Cell, Valur Emilsson at the Icelandic Heart Association and Eric Schadt at Icahn School of Medicine at Mount Sinai, New York, report that they have identified molecular networks that are perturbed in Alzhei

MAPT K280del

MUTATIONS MAPT 44087694 GRCh37/hg19 rs63750688 AAG--- ΔK280 Exon 10 Deletion Coding The K280del variant is unusal in that it inhibits exon 10 inclusion and leads to an excess of 3-repeat (3R) tau transcripts. It also has been shown to reduce tau's ability to p

MAPT N279K

MUTATIONS MAPT 44087690 GRCh37/hg19 rs63750756 T G Exon 10 Point, Missense Coding Affects splicing similar to many of the intronic mutations, resulting in more frequent inclusion of exon 10 in mRNA transcripts. Also, reduces lysosomal degradation of tau in iPSC-der

MAPT IVS9-10 G> T (g(-10)t)

MUTATIONS MAPT 44087666 GRCh37/hg19 rs63749974 G T g.123701G> T g.120880G> T IVS9-10 G> T Intron 9 Point Non-Coding This intronic mutation stregthens the splice acceptor site, resulting in more frequent inclusion of exon 10 into mRNA transcripts. Four-repe

MAPT G273R

MUTATIONS MAPT 44074025 GRCh37/hg19 G A g.110065G> A g.107239G> A Exon 9 Point, Missense Coding Unknown. Unknown. G273R Frontotemporal Dementia: PathogenicFrontotemporal Dementia This mutation was identified in one out of 98 Belgian individuals dignosed with

MAPT G272V

MUTATIONS MAPT 44074023 GRCh37/hg19 rs63750376 G T g.110063G> T g.107237G> T Exon 9 Point, Missense Coding Mutant tau proteins are more favorable substrates for phosphorylation than wild-type tau. Severe frontotemporal lobe atrophy; Neuronal loss in hippocamp

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