A cellular assay distinguishes normal and mutant TIGR/myocilin protein (Q40920038)

24 September 2017

title

A cellular assay distinguishes normal and mutant TIGR/myocilin protein (English)

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24 September 2017

Zhou Z

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24 September 2017

Vollrath D

series ordinal

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24 September 2017

publication date

1 November 1999

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24 September 2017

published in

Human Molecular Genetics

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24 September 2017

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24 September 2017

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24 September 2017

page(s)

2221-2228

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Number of people with glaucoma worldwide

24 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Recent advances in molecular genetics of glaucomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Molecular evolution of olfactomedin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Synthesis and assembly of spectrin during avian erythropoiesis: stoichiometric assembly but unequal synthesis of alpha and beta spectrin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Dynamics of cadherin/catenin complex formation: novel protein interactions and pathways of complex assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Defects in neurofibromatosis 2 protein function can arise at multiple levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Characterization of the murine TIGR/myocilin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Characterization and comparison of the human and mouse GLC1A glaucoma genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

Characterization of the mouse Myoc/Tigr gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.12.2221

21 January 2018

Identifiers

DOI

10.1093/HMG/8.12.2221

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24 September 2017

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