Characterization of the murine TIGR/myocilin gene

Abderrahim, Hadi; Jaramillo-Babb, Virna L.; Zhou, Zhaohui; Vollrath, Douglas

doi:10.1007/s003359900844

Cited by 23 publications

(13 citation statements)

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“…It is located in chromosome 1 and contains three exons (Kubota et al 1998). The protein is mainly comprised of an N-terminal coiled coil region and a C-terminal olfactomedin domain (Abderrahim et al 1998;Fingert et al 1998). This is largely an extracellular matrix (ECM) protein but its function is still not well elucidated.…”

Section: Candidate Genes and Beyondmentioning

confidence: 99%

Molecular complexity of primary open angle glaucoma: current concepts

Ray

Mookherjee

2009

J Genet

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Glaucoma is a group of heterogeneous optic neuropathies with complex genetic basis. Among the three principle subtypes of glaucoma, primary open angle glaucoma (POAG) occurs most frequently. Till date, 25 loci have been found to be linked to POAG. However, only three underlying genes (Myocilin, Optineurin and WDR36) have been identified. In addition, at least 30 other genes have been reported to be associated with POAG. Despite strong genetic influence in POAG pathogenesis, only a small part of the disease can be explained in terms of genetic aberration. Current concepts of glaucoma pathogenesis suggest it to be a neurodegenerative disorder which is triggered by different factors including mechanical stress due to intra-ocular pressure, reduced blood flow to retina, reperfusion injury, oxidative stress, glutamate excitotoxicity, and aberrant immune response. Here we present a mechanistic overview of potential pathways and crosstalk between them operating in POAG pathogenesis.

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Section: Candidate Genes and Beyondmentioning

confidence: 99%

Molecular complexity of primary open angle glaucoma: current concepts

Ray

Mookherjee

2009

J Genet

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“…Other tissues in humans, rats and mice that express myocilin include the mammary gland, small intestine, thymus, prostate, testis, colon, stomach, thyroid, trachea, bone marrow, and brain. (Abderrahim et al, 1998; Adam et al, 1997; Ahmed et al, 2001; Fingert et al, 1998; Swiderski et al, 1999; Taguchi et al, 2000; Tomarev et al, 1998). Myocilin has also been detected in Schwann cells and the myelin sheath of peripheral nerves (Ohlmann et al, 2003), renal podocytes and mesangial cells (Goldwich et al, 2005), and intervertebral discs (Gruber et al, 2006).…”

Section: Expressionmentioning

confidence: 99%

Glaucoma-associated myocilin: A better understanding but much more to learn

Resch

Fautsch

2009

Experimental Eye Research

110

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Over a decade has passed since myocilin was identified as the first gene linked to early and late-onset primary open-angle glaucoma. During this time, considerable effort has been put forth to understand the functional role myocilin has in normal and glaucomatous eyes. Myocilin is expressed in many ocular and non-ocular tissues, is found in both intracellular and extracellular spaces, and has been linked to elevations in intraocular pressure. Mutations in the myocilin gene that have been associated with glaucoma appear to confer a gain-of-functional activity rather than loss of function. Unfortunately, what the normal function of myocilin is and how alterations in the function can confer a glaucoma phenotype have yet to be elucidated. We will review the current understanding of myocilin with special emphasis on the structural makeup of the myocilin gene and protein, its possible physiological roles internal and external to ocular cells, the regulation of intraocular pressure as evidenced through the use of perfusion culture systems and animal models, and as a causative agent in some forms of glaucoma.

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“…[1][2][3][4] Significant morbidity, in the form of superficial corneal erosions, corneal ulcers, and decreased visual acuity, dramatically reduce quality of life. [1][2][3] The overall financial burden of DED is *$3.84 billion annually in the United States alone. 4 Keratoconjunctivitis sicca (KCS) is one form of DED that results in reduced or complete absence of tear production by the lacrimal tissue.…”

Section: Introductionmentioning

confidence: 99%