(Q38027937)

27 August 2017

title

Copy number variations involving the microtubule-associated protein tau in human diseases (English)

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27 August 2017

2

Dominique Campion

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27 August 2017

Anne Rovelet-Lecrux

1

1 reference

27 August 2017

language of work or name

1 reference

1 August 2012

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Biochemical Society Transactions

27 August 2017

published in

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27 August 2017

volume

40

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27 August 2017

issue

4

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27 August 2017

page(s)

672-676

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Detection of large-scale variation in the human genome

27 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Copy number variation and evolution in humans and chimpanzees

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

A common inversion under selection in Europeans

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Structural and functional differences between 3-repeat and 4-repeat tau isoforms. Implications for normal tau function and the onset of neurodegenetative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Abnormal phosphorylation of tau and the mechanism of Alzheimer neurofibrillary degeneration: sequestration of microtubule-associated proteins 1 and 2 and the disassembly of microtubules by the abnormal tau

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Altered microtubule organization in small-calibre axons of mice lacking tau protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Tau's role in the developing brain: implications for intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Disruption of the CRF/CRF1 receptor stress system exacerbates the somatic signs of opiate withdrawal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Corticotropin releasing factor receptor 1-deficient mice display decreased anxiety, impaired stress response, and aberrant neuroendocrine development

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Importins fulfil a dual function as nuclear import receptors and cytoplasmic chaperones for exposed basic domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Association of polymorphisms in the Tau and Saitohin genes with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Saitohin, which is nested within the tau gene, interacts with tau and Abl and its human-specific allele influences Abl phosphorylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

Mice deficient in Abl are osteoporotic and have defects in osteoblast maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBST20120045

21 January 2018

Identifiers

DOI

10.1042/BST20120045

1 reference

27 August 2017

1 reference