Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function (Q34012751)

30 July 2017

title

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

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30 July 2017

B S Kim

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30 July 2017

O V Savinova

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30 July 2017

M V Reedy

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30 July 2017

J Martin

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30 July 2017

Y Lun

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30 July 2017

L Gan

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30 July 2017

R S Smith

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30 July 2017

S I Tomarev

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30 July 2017

S W John

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30 July 2017

R L Johnson

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30 July 2017

language of work or name

English

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publication date

1 November 2001

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Molecular and Cellular Biology

30 July 2017

published in

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30 July 2017

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30 July 2017

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30 July 2017

page(s)

7707-7713

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The mouse anterior chamber angle and trabecular meshwork develop without cell death

30 July 2017

cites work

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

5 July 2018

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Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

5 July 2018

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The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye

5 July 2018

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Functional morphology of the trabecular meshwork in primate eyes

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

5 July 2018

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Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

5 July 2018

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Characterization of the mouse Myoc/Tigr gene.

5 July 2018

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Identification of a new ‘TIGR’ mutation in a family with juvenile-onset primary open angle glaucoma

5 July 2018

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

5 July 2018

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A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

5 July 2018

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Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation.

5 July 2018

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Models of open-angle glaucoma prevalence and incidence in the United States.

5 July 2018

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Identification of a gene that causes primary open angle glaucoma.

5 July 2018

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Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor

5 July 2018

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Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium

5 July 2018

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

5 July 2018

1 reference

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Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

5 July 2018

1 reference

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Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

29 October 2018

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Characterization of the murine TIGR/myocilin gene

29 October 2018

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Mouse myocilin (Myoc) gene expression in ocular tissues

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

Mutations in the TIGR Gene in Familial Primary Open-Angle Glaucoma in Japan

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=99941

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

29 October 2018

1 reference

12 December 2020

Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization and differential expression of a human gene family of olfactomedin-related proteins

1 reference

12 December 2020

Intraocular pressure in inbred mouse strains

1 reference

12 December 2020

Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice

1 reference

12 December 2020

10.1128/MCB.21.22.7707-7713.2001

Identifiers

DOI

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30 July 2017

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30 July 2017

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