Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma (Q35131549)

6 August 2017

Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma (English)

1 reference

6 August 2017

Douglas B Gould

1

1 reference

6 August 2017

Mark Reedy

2

1 reference

6 August 2017

Lawriston A Wilson

3

1 reference

6 August 2017

Richard S Smith

4

1 reference

6 August 2017

Randy L Johnson

5

1 reference

6 August 2017

Simon W M John

6

1 reference

6 August 2017

language of work or name

English

0 references

publication date

5 September 2006

1 reference

Molecular and Cellular Biology

6 August 2017

1 reference

6 August 2017

26

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6 August 2017

22

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6 August 2017

8427-8436

1 reference

Autocrine tumor necrosis factor alpha links endoplasmic reticulum stress to the membrane death receptor pathway through IRE1alpha-mediated NF-kappaB activation and down-regulation of TRAF2 expression

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Temperature sensitive secretion of mutant myocilins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Complex genetics of glaucoma susceptibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

The mammalian unfolded protein response

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Myocilin and glaucoma: facts and ideas.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Optimedin: a novel olfactomedin-related protein that interacts with myocilin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Bacterial artificial chromosome libraries for mouse sequencing and functional analysis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Modulation of myocilin/TIGR expression in human trabecular meshwork.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Effects of glucocorticoids on the trabecular meshwork: towards a better understanding of glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Characterization of the mouse Myoc/Tigr gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Number of people with glaucoma worldwide

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

A novel signal transduction pathway from the endoplasmic reticulum to the nucleus is mediated by transcription factor NF-kappa B.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Risk factors for open-angle glaucoma. The Barbados Eye Study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Detection of differentially expressed glycogenes in trabecular meshwork of eyes with primary open-angle glaucoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Mutated mouse and human myocilins have similar properties and do not block general secretory pathway.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

In vitro and in vivo characterization of disulfide bond use in myocilin complex formation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

The expression of myocilin during murine eye development.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Effects of elevated intraocular pressure on outflow facility and TIGR/MYOC expression in perfused human anterior segments.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Intraocular pressure in genetically distinct mice: an update and strain survey

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Mouse myocilin (Myoc) gene expression in ocular tissues

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Localization of the stress proteins alpha B-crystallin and trabecular meshwork inducible glucocorticoid response protein in normal and glaucomatous trabecular meshwork.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Identification of a gene that causes primary open angle glaucoma.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Ultrastructure of the trabecular meshwork in untreated cases of primary open-angle glaucoma (POAG).

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1636791

Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma

27 September 2018

1 reference

12 December 2020

Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization

1 reference

12 December 2020

Expression of the TIGR gene in the iris, ciliary body, and trabecular meshwork of the human eye

1 reference

12 December 2020

Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma

1 reference

12 December 2020

TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma

1 reference

12 December 2020

Distribution of Myocilin and Extracellular Matrix Components in the Corneoscleral Meshwork of Human Eyes

1 reference

12 December 2020

Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants

1 reference

12 December 2020

Ultrahistochemical studies on tangential sections of the trabecular meshwork in normal and glaucomatous eyes

1 reference

12 December 2020

Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes

1 reference

12 December 2020

Intraocular pressure in inbred mouse strains

1 reference

12 December 2020

Ultrastructural changes in the trabecular meshwork of human eyes treated with corticosteroids

1 reference

12 December 2020

Localization of myocilin/trabecular meshwork--inducible glucocorticoid response protein in the human eye

1 reference

12 December 2020

Identifiers

DOI

10.1128/MCB.01127-06

1 reference

6 August 2017

1 reference

6 August 2017

1 reference