Functional MAPT haplotypes: bridging the gap between genotype and neuropathology (Q24651392)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17555970%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

review article

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title

Functional MAPT haplotypes: bridging the gap between genotype and neuropathology (English)

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31 December 2019

2

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31 December 2019

author name string

Tara M Caffrey

series ordinal

1

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31 December 2019

language of work or name

English

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publication date

5 May 2007

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31 December 2019

published in

Neurobiology of Disease

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31 December 2019

volume

27

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31 December 2019

page(s)

1-10

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31 December 2019

issue

1

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Global variation in copy number in the human genome

31 December 2019

cites work

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Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Delta280K AND N279K

7 April 2017

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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

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Haplotype-specific expression of exon 10 at the human MAPT locus

28 September 2017

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28 September 2017

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Stabilization of the tau exon 10 stem loop alters pre-mRNA splicing

28 September 2017

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

28 September 2017

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Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

28 September 2017

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28 September 2017

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Allele-specific gene expression uncovered

28 September 2017

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Tau haplotypes regulate transcription and are associated with Parkinson's disease.

28 September 2017

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28 September 2017

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Argyrophilic grain disease is a sporadic 4-repeat tauopathy

28 September 2017

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Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

28 September 2017

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Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

28 September 2017

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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy.

28 September 2017

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Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

30 May 2018

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Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia.

30 May 2018

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Overexpression of four-repeat tau mRNA isoforms in progressive supranuclear palsy but not in Alzheimer's disease.

30 May 2018

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Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy

30 May 2018

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The structural basis of monoclonal antibody Alz50's selectivity for Alzheimer's disease pathology.

30 May 2018

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Neurofibrillary tangles in progressive supranuclear palsy. Electron microscopic observations.

30 May 2018

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Ultrastructure of Neurofibrillary Tangles in Steele-Richardson-Olszewski Syndrome

30 May 2018

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Projection domains of MAP2 and tau determine spacings between microtubules in dendrites and axons

30 May 2018

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Structure and novel exons of the human tau gene

30 May 2018

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A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

30 May 2018

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High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

28 November 2018

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A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

28 November 2018

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28 November 2018

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Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression.

28 November 2018

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28 November 2018

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The structure of the tau haplotype in controls and in progressive supranuclear palsy.

28 November 2018

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28 November 2018

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A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain

28 November 2018

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Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia.

28 November 2018

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An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

28 November 2018

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Expression patterns of tau mRNA isoforms correlate with susceptible lesions in progressive supranuclear palsy and corticobasal degeneration.

28 November 2018

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Allelic Variation in Human Gene Expression

28 November 2018

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Further extension of the H1 haplotype associated with progressive supranuclear palsy

28 November 2018

1 reference

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A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies.

28 November 2018

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5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

28 November 2018

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Association of an extended haplotype in the tau gene with progressive supranuclear palsy.

28 November 2018

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Different distribution of phosphorylated tau protein isoforms in Alzheimer's and Pick's diseases.

28 November 2018

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Genetic evidence for the involvement of tau in progressive supranuclear palsy

28 November 2018

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Specific pathological Tau protein variants characterize Pick's disease.

28 November 2018

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Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

28 November 2018

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12 December 2020

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

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12 December 2020

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

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12 December 2020

Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

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12 December 2020

Functional effects of tau gene mutations deltaN296 and N296H

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12 December 2020

Effects on splicing and protein function of three mutations in codon N296 of tau in vitro

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12 December 2020

tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites

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12 December 2020

The tau H2 haplotype is almost exclusively Caucasian in origin

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12 December 2020

Domains of tau protein and interactions with microtubules

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12 December 2020

Hyperphosphorylated tau proteins differentiate corticobasal degeneration and Pick's disease

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12 December 2020

Significant Changes in the Tau A0 and A3 Alleles in Progressive Supranuclear Palsy and Improved Genotyping by Silver Detection

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12 December 2020

FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10

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12 December 2020

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

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12 December 2020

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

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Crossref

https://api.crossref.org/works/10.1016%2FJ.NBD.2007.04.006

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.NBD.2007.04.006

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17555970%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17555970%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

2 references