Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma (Q40569319)

21 September 2017

title

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma (English)

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21 September 2017

Yuhui Liu

1

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21 September 2017

Douglas Vollrath

series ordinal

2

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21 September 2017

publication date

6 April 2004

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21 September 2017

published in

Human Molecular Genetics

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21 September 2017

volume

13

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21 September 2017

issue

11

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21 September 2017

page(s)

1193-1204

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Number of people with glaucoma worldwide

21 September 2017

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21 January 2018

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Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

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21 January 2018

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Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

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21 January 2018

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Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

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Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

21 January 2018

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A cellular assay distinguishes normal and mutant TIGR/myocilin protein

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Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDH128

1 reference

21 September 2017

1 reference