myocilin

Summary

Gene Symbol: myocilin
Description: myocilin
Alias: GLC1A, GPOA, JOAG, JOAG1, TIGR, myocilin, juvenile-onset open-angle glaucoma 1, mutated trabecular meshwork-induced glucocorticoid response protein, myocilin 55 kDa subunit, myocilin trabecular meshwork inducible glucocorticoid response protein, trabecular meshwork inducible glucocorticoid response protein
Species: human
Products:     myocilin

Top Publications

  1. Tanwar M, Kumar M, Dada T, Sihota R, Dada R. MYOC and FOXC1 gene analysis in primary congenital glaucoma. Mol Vis. 2010;16:1996-2006 pubmed
    To screen the myocilin (MYOC) and forkhead box protein C1 (FOXC1) genes for sequence variations in primary congenital glaucoma (PCG)...
  2. Richards J, Lichter P, Boehnke M, Uro J, Torrez D, Wong D, et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq. Am J Hum Genet. 1994;54:62-70 pubmed
    ..This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1. ..
  3. Zhao X, Yang C, Tong Y, Zhang X, Xu L, Li Y. Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma. Mol Vis. 2010;16:1728-35 pubmed
    To describe the clinical and genetic findings in one Chinese family with juvenile-onset open angle glaucoma (JOAG).
  4. Ueda J, Wentz Hunter K, Cheng E, Fukuchi T, Abe H, Yue B. Ultrastructural localization of myocilin in human trabecular meshwork cells and tissues. J Histochem Cytochem. 2000;48:1321-30 pubmed
    We examined ultrastructurally the localization of myocilin (formerly called trabecular meshwork inducible glucocorticoid response, or TIGR) protein in cultured human trabecular meshwork (TM) cells and in normal human TM tissues...
  5. Mackey D, Healey D, Fingert J, Coote M, Wong T, Wilkinson C, et al. Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthalmol. 2003;121:1172-80 pubmed
    ..the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the myocilin mutation Thr377Met. Cross-sectional genetic study...
  6. Adam M, Belmouden A, Binisti P, Brezin A, Valtot F, Bechetoille A, et al. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet. 1997;6:2091-7 pubmed
    ..Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23-q25 in several families affected with juvenile-onset POAG (JOAG) and also in ..
  7. Hardy K, Hoffman E, Gonzalez P, McKay B, Stamer W. Extracellular trafficking of myocilin in human trabecular meshwork cells. J Biol Chem. 2005;280:28917-26 pubmed
    b>Myocilin (MYOC) is a protein with a broad expression pattern, but unknown function...
  8. Yen Y, Yang J, Chou M, Li S. Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. Mol Vis. 2007;13:1627-34 pubmed
    To investigate mutations in the promoter and coding regions of the myocilin (MYOC) gene in Taiwanese patients suffering from juvenile-onset open-angle glaucoma (JOAG)...
  9. Puska P, Lemmelä S, Kristo P, Sankila E, Jarvela I. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. Ophthalmic Genet. 2005;26:17-23 pubmed
    To study the role of myocilin (MYOC) as a susceptibility gene for juvenile- and adult-onset open-angle glaucoma (JOAG and POAG, respectively)...

More Information

Publications134 found, 100 shown here

  1. Yoon S, Kim H, Moon J, Lim J, Joo C. Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. Am J Hum Genet. 1999;64:1775-8 pubmed
  2. Melki R, Belmouden A, Brezin A, Garchon H. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. Hum Mutat. 2003;22:179 pubmed
    ..A small number of patients carry a mutation in the coding region of the myocilin (MYOC) gene...
  3. Vincent A, Billingsley G, Buys Y, Levin A, Priston M, Trope G, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002;70:448-60 pubmed
    ..We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway. ..
  4. Fan B, Leung Y, Pang C, Baum L, Tam O, Wang N, et al. [Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21:70-3 pubmed
    To detect single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) gene and to investigate their associations with primary open-angle glaucoma (POAG)...
  5. Yao H, Cheng C, Fan B, Tam O, Tham C, Wang D, et al. [Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients]. Zhonghua Yi Xue Za Zhi. 2006;86:554-9 pubmed
    To detect the single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) and optineurin (OPTN) genes, and to investigate their associations with high tension glaucoma (HTG) and normal tension glaucoma (NTG)...
  6. Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, et al. Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol Vis. 2002;8:442-8 pubmed
    Glaucoma is the second leading cause of blindness worldwide after cataract. Defects in the myocilin gene (MYOC) have been shown to be associated with Primary Open Angle Glaucoma (POAG), the most common form of the disease, especially in ..
  7. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay A, Daulat Thakur S, Bhaduri G, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis. 2006;12:399-404 pubmed
    ..The homozygous mutation of a conserved residue, detected in a familial juvenile onset POAG (JOAG) patient (lacking MYOC or OPTN mutations), cosegregated with the disease locus in an autosomal recessive mode of ..
  8. Fan B, Leung D, Wang D, Gobeil S, Raymond V, Tam P, et al. Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. Arch Ophthalmol. 2006;124:102-6 pubmed
    ..In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family ..
  9. Sjöstrand A, Tomic L, Larsson L, Wadelius C. No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma. Acta Ophthalmol Scand. 2002;80:384-6 pubmed
    To investigate whether variants of the polymorphic GT/CA-repeat in the regulatory sequences of the gene for GLC1A are associated with glaucoma...
  10. Kaur K, Reddy A, Mukhopadhyay A, Mandal A, Hasnain S, Ray K, et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet. 2005;67:335-40 pubmed
    ..On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, using denaturing high-performance liquid chromatography followed by ..
  11. Vasconcellos J, Melo M, Costa V, Tsukumo D, Basseres D, Bordin S, et al. Novel mutation in the MYOC gene in primary open glaucoma patients. J Med Genet. 2000;37:301-3 pubmed
  12. Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis. 2005;11:284-7 pubmed
    To determine the prevalence of optineurin (OPTN) and myocilin (MYOC) sequence variants in a cohort of German patients with normal tension glaucoma...
  13. Zhuo Y, Wei Y, Bai Y, Duan S, Lin M, Saragovi H, et al. Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype. Mol Vis. 2008;14:1533-9 pubmed
    ..In this study, we identified the genotype of a MYOC mutation and investigated the phenotype of a Chinese juvenile-onset open angle glaucoma (JOAG) pedigree (GZ.1 pedigree).
  14. Sakai H, Shen X, Koga T, Park B, Noskina Y, Tibudan M, et al. Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells. J Cell Physiol. 2007;213:775-84 pubmed
    ..b>Myocilin is a gene directly linked to the most common form of glaucoma...
  15. Challa P, Herndon L, Hauser M, Broomer B, Pericak Vance M, Ababio Danso B, et al. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. J Glaucoma. 2002;11:416-20 pubmed
    ..Primary open-angle glaucoma patients with mutations in myocilin have a similar phenotype...
  16. Nagy I, Trexler M, Patthy L. Expression and characterization of the olfactomedin domain of human myocilin. Biochem Biophys Res Commun. 2003;302:554-61 pubmed
    ..The olfactomedin-domain of myocilin is of considerable interest, since mutations affecting this domain are associated with primary open angle ..
  17. Cheng L, Ueda J, Wentz Hunter K, Yue B. Age independent expression of myocilin in the human trabecular meshwork. Int J Mol Med. 2002;10:33-40 pubmed
    ..b>Myocilin, a gene linked to open-angle glaucomas (OAG), has been found to be expressed in the TM and a broad range of other ..
  18. Hewitt A, Mackey D, Craig J. Myocilin allele-specific glaucoma phenotype database. Hum Mutat. 2008;29:207-11 pubmed
    ..Since 1997, when mutations in the myocilin (MYOC) gene were identified as causing juvenile onset as well as a proportion of primary open-angle glaucoma (..
  19. Surgucheva I, Park B, Yue B, Tomarev S, Surguchov A. Interaction of myocilin with gamma-synuclein affects its secretion and aggregation. Cell Mol Neurobiol. 2005;25:1009-33 pubmed
    Mutations in the gene encoding human myocilin are associated with some cases of juvenile and early-onset glaucoma. Glaucomatous mutations prevent myocilin from being secreted...
  20. Polansky J. Current perspectives on the TIGR/MYOC gene (Myocilin) and glaucoma. Ophthalmol Clin North Am. 2003;16:515-27, v-vi pubmed
    ..groups worldwide have confirmed the presence of probable disease-causing mutations in the coding region of the (TIGR/MYOC) gene associated with glaucoma...
  21. Kumar A, Basavaraj M, Gupta S, Qamar I, Ali A, Bajaj V, et al. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis. 2007;13:667-76 pubmed
    ..This is the first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients. Our study shows that mutations in these genes are rare in Indian POAG patients. ..
  22. Baird P, Craig J, Richardson A, Ring M, Sim P, Stanwix S, et al. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Hum Genet. 2003;112:110-6 pubmed
    Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma...
  23. Hewitt A, Bennett S, Dimasi D, Craig J, Mackey D. A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases. Am J Ophthalmol. 2006;141:402-3 pubmed
    To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members...
  24. Wentz Hunter K, Shen X, Okazaki K, Tanihara H, Yue B. Overexpression of myocilin in cultured human trabecular meshwork cells. Exp Cell Res. 2004;297:39-48 pubmed
    ..b>Myocilin is a gene linked to the most common form of glaucoma...
  25. Kanagavalli J, Pandaranayaka P, Krishnadas S, Krishnaswamy S, Sundaresan P. In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein. Mol Vis. 2007;13:1161-8 pubmed
    Mutations in the myocilin gene (MYOC) leading to a perturbed outflow of aqueous in the trabecular meshwork (TM) has been associated with the pathophysiology of glaucoma...
  26. Xie X, Zhou X, Qu X, Wen J, Tian Y, Zheng F. Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. Mol Vis. 2008;14:1666-72 pubmed
    ..To investigate the genetic linkage of primary open-angle glaucoma (POAG) in a Chinese family...
  27. Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, et al. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol. 2003;121:1034-8 pubmed
    To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary ..
  28. Kubota R, Kudoh J, Mashima Y, Asakawa S, Minoshima S, Hejtmancik J, et al. Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A). Biochem Biophys Res Commun. 1998;242:396-400 pubmed
    b>Myocilin is a newly found cytoskeletal protein involved in the morphogenesis of the basal body, a major microtubule organizing center, of the ciliated epithelium...
  29. Wiggs J, Allingham R, Vollrath D, Jones K, de la Paz M, Kern J, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet. 1998;63:1549-52 pubmed
  30. Qu X, Zhou X, Zhou K, Xie X, Tian Y. New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family. Mol Biol Rep. 2010;37:255-61 pubmed publisher
    b>Myocilin (MYOC) gene is expressed in many ocular tissues, including the trabecular meshwork, a specialized eye tissue essential in regulating intraocular pressure...
  31. Graul T, Kwon Y, Zimmerman M, Kim C, Sheffield V, Stone E, et al. A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. Am J Ophthalmol. 2002;134:884-90 pubmed
    To determine whether primary open-angle glaucoma (POAG) and ocular hypertensive (OHT) patients who harbor the myocilin Gln368Stop mutation differ in phenotype or clinical course from patients without the mutation. Case-control study...
  32. Fingert J, Ying L, Swiderski R, Nystuen A, Arbour N, Alward W, et al. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res. 1998;8:377-84 pubmed
    The GLC1A gene (which encodes the protein myocilin) has been associated with the development of primary open angle glaucoma...
  33. Fingert J, Clark A, Craig J, Alward W, Snibson G, McLaughlin M, et al. Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest Ophthalmol Vis Sci. 2001;42:145-52 pubmed
    ..Overall, 109 instances of 20 different sequence variations were identified in the human myocilin gene...
  34. Wentz Hunter K, Ueda J, Yue B. Protein interactions with myocilin. Invest Ophthalmol Vis Sci. 2002;43:176-82 pubmed
    To identify factors that interact in vivo with myocilin, a glaucoma gene product...
  35. Joe M, Sohn S, Hur W, Moon Y, Choi Y, Kee C. Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun. 2003;312:592-600 pubmed
    MYOC encoding a 55kDa secretory glycoprotein named myocilin is closely linked to primary open-angle glaucoma (POAG)...
  36. Saura M, Cabana M, Ayuso C, Valverde D. Mutations including the promoter region of myocilin/TIGR gene. Eur J Hum Genet. 2005;13:384-7 pubmed
    Mutations in the MYOC/TIGR gene are responsible for autosomal dominant primary open angle glaucoma (POAG). Almost all mutations responsible for POAG have been detected in the coding region (in particular at exon 3)...
  37. Rose R, Balakrishnan A, Muthusamy K, Arumugam P, Shanmugam S, Gopalswamy J. Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis. Mol Vis. 2011;17:3243-53 pubmed
    Primary open angle glaucoma (POAG) is the most common type of glaucoma. Among the POAG genes identified so far, myocilin (MYOC) is the most frequently mutated gene in POAG patients worldwide...
  38. Kong T. Post-transcriptional modification of the gene genetically linked to juvenile open-angle glaucoma; novel transcripts in human ocular tissues. Gene. 2001;280:115-22 pubmed
    Mutation in the myocilin gene is associated with 4% (familial form) of glaucoma cases. The underlying mechanism in non-familial cases remains unclear...
  39. Chen Y, Jiang D, Wan B, Yu L, Sun X. Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma. Mol Vis. 2006;12:360-6 pubmed
    ..diagnosis to family members by investigating the genetic cause of a large primary juvenile open angle glaucoma (JOAG) pedigree with an autosomal dominant pattern...
  40. Hewitt A, Bennett S, Fingert J, Cooper R, Stone E, Craig J, et al. The optic nerve head in myocilin glaucoma. Invest Ophthalmol Vis Sci. 2007;48:238-43 pubmed
    Approximately 1 in 30 unselected patients with open-angle glaucoma (OAG) have a mutation in the myocilin gene. The purpose of this study was to describe the morphologic features of the optic nerve head (ONH) in myocilin glaucoma...
  41. Hewitt A, Samples J, Allingham R, Jarvela I, Kitsos G, Krishnadas S, et al. Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis. 2007;13:487-92 pubmed
    The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds...
  42. Kwon H, Lee H, Ji Y, Rubin J, Tomarev S. Myocilin is a modulator of Wnt signaling. Mol Cell Biol. 2009;29:2139-54 pubmed publisher
    It is well documented that mutations in the MYOCILIN gene may lead to juvenile- and adult-onset primary open-angle glaucoma. However, the functions of wild-type myocilin are still not well understood...
  43. Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997;41:360-9 pubmed
    We have isolated a human cDNA clone encoding a novel acidic protein of MW 55,000 that we designated "myocilin" since it has homology to myosin and is localized preferentially in the ciliary rootlet and basal body of the ..
  44. Alward W, Fingert J, Coote M, Johnson A, Lerner S, Junqua D, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-7 pubmed
    ..have been identified in the chromosome 1 open-angle glaucoma gene (GLC1A), which encodes a 57-kd protein known as myocilin. The normal role of this protein and the mechanism by which mutations cause glaucoma are not known...
  45. O Brien E, Ren X, Wang Y. Localization of myocilin to the golgi apparatus in Schlemm's canal cells. Invest Ophthalmol Vis Sci. 2000;41:3842-9 pubmed
    Biochemical and genetic evidence suggests that overexpression of or mutations in myocilin within the cells of the aqueous humor outflow pathway play a significant role in the development of steroid-induced and several other open-angle ..
  46. Copin B, Brezin A, Valtot F, Dascotte J, Béchetoille A, Garchon H. Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am J Hum Genet. 2002;70:1575-81 pubmed
    ..The myocilin (MYOC) gene is the only one that has thus far been shown to have mutations in patients with POAG...
  47. Baird P, Richardson A, Mackey D, Craig J, Faucher M, Raymond V. A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families. Am J Ophthalmol. 2005;140:760-2 pubmed
    To ascertain whether there is a common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian families with primary open-angle glaucoma (POAG). Family pedigree study...
  48. Ozgul R, Bozkurt B, Orcan S, Bulur B, Bagiyeva S, Irkec M, et al. Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma. Mol Vis. 2005;11:916-21 pubmed
    To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients...
  49. Funayama T, Mashima Y, Ohtake Y, Ishikawa K, Fuse N, Yasuda N, et al. SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:5368-75 pubmed
    ..factor for open-angle glaucoma (OAG) and the interactions between the noelin 2 (OLFM2), optineurin (OPTN), and myocilin (MYOC) genes...
  50. Hogewind B, Gaplovska Kysela K, Theelen T, Cremers F, Yam G, Hoyng C, et al. Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Mol Vis. 2007;13:1793-801 pubmed
    ..Of the three genes, namely, Myocilin (MYOC), Optineurin (OPTN), and WD repeat-containing protein 36 (WDR36), which have been shown to cause POAG when ..
  51. Michels Rautenstrauss K, Mardin C, Wakili N, Jünemann A, Villalobos L, Mejia C, et al. Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. Hum Mutat. 2002;20:479-80 pubmed
    Mutations at the myocilin (MYOC) gene within the GLC1A locus have been revealed in 2-4% of patients suffering primary open angle glaucoma (POAG) worldwide...
  52. Shepard A, Jacobson N, Sui R, Steely H, Lotery A, Stone E, et al. Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage. BMC Genet. 2003;4:5 pubmed
    Mutations in the gene encoding human myocilin (MYOC) have been shown to cause juvenile- and adult-onset glaucoma. In addition, myocilin has been associated with glucocorticoid-induced ocular hypertension and steroid-induced glaucoma...
  53. Melki R, Idhajji A, Driouiche S, Hassani M, Boukabboucha A, Akhayat O, et al. Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco. Ophthalmic Genet. 2003;24:153-60 pubmed
    To investigate the Myocilin (MYOC) gene for mutations and polymorphisms in patients with primary open-angle glaucoma (POAG) in Morocco...
  54. Petersen M, Kitsos G, Samples J, Gaudette N, Economou Petersen E, Sykes R, et al. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci. 2006;47:620-5 pubmed
    ..The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C ..
  55. Shen X, Koga T, Park B, SundarRaj N, Yue B. Rho GTPase and cAMP/protein kinase A signaling mediates myocilin-induced alterations in cultured human trabecular meshwork cells. J Biol Chem. 2008;283:603-12 pubmed
    b>Myocilin is a gene linked to the most common form of glaucoma, a major blinding disease. The trabecular meshwork (TM), a specialized eye tissue, is believed to be involved, at least in part, in the development of glaucoma...
  56. Clark A, Steely H, Dickerson J, English Wright S, Stropki K, McCartney M, et al. Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci. 2001;42:1769-80 pubmed
    To examine the intracellular and extracellular expression of myocilin in the human and primate trabecular meshwork (TM) in the presence and absence of glucocorticoids...
  57. Torrado M, Trivedi R, Zinovieva R, Karavanova I, Tomarev S. Optimedin: a novel olfactomedin-related protein that interacts with myocilin. Hum Mol Genet. 2002;11:1291-301 pubmed
    ..In the human eye, optimedin is expressed in the retina and the trabecular meshwork. Both optimedin and myocilin are localized in Golgi and are secreted proteins...
  58. Mengkegale M, Fuse N, Miyazawa A, Takahashi K, Seimiya M, Yasui T, et al. Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma. Mol Vis. 2008;14:413-7 pubmed
    To examine the myocilin (MYOC) gene for mutations in Japanese patients with primary open-angle glaucoma (POAG) and to determine the phenotypes of the patients with the mutations...
  59. Aroca Aguilar J, Sanchez Sanchez F, Ghosh S, Fernández Navarro A, Coca Prados M, Escribano J. Interaction of recombinant myocilin with the matricellular protein SPARC: functional implications. Invest Ophthalmol Vis Sci. 2011;52:179-89 pubmed publisher
    b>Myocilin is an extracellular glycoprotein with unknown function that is associated with glaucoma...
  60. Morissette J, Clepet C, Moisan S, Dubois S, Winstall E, Vermeeren D, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet. 1998;19:319-21 pubmed
  61. Iliev M, Bodmer S, Gallati S, Lanz R, Sturmer J, Katsoulis K, et al. Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation. Eye (Lond). 2008;22:880-8 pubmed
    ..out using single-strand conformation polymorphism and DNA sequence analyses of the suspected candidate gene, myocilin (MYOC). We detected a Gly367Arg mutation in the MYOC gene of 13 family members. Nine of them (69...
  62. Wei Y, Li Y, Bai Y, Wang M, Chen J, Ge J, et al. Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma. Mol Vis. 2011;17:1449-56 pubmed
    ..A Pro370Leu myocilin mutation resulting from a heterozygous C?T transition at the 1,109th nucleotide in exon 3 was detected by gene ..
  63. Sheffield V, Stone E, Alward W, Drack A, Johnson A, Streb L, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993;4:47-50 pubmed
    ..0) to the disease, with the highest lod score 6.5 (theta = 0), provided by D1S212. The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q. ..
  64. Fan B, Liang X, Peng Z, Dong X, Liu Y, Luan J, et al. [Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients]. Zhonghua Yi Xue Za Zhi. 2002;82:743-7 pubmed
    To detect the single nucleotide polymorphism (SNP) of trabecular meshwork-induced glucocorticoid response protein (TIGR) gene and to investigate the association between SNP and primary open-angle glaucoma (POAG) in Chinese Han population...
  65. Melki R, Colomb E, Lefort N, Brezin A, Garchon H. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004;41:647-51 pubmed
    ..Mutations in the MYOCILIN (MYOC) and OPTINEURIN genes account for rare forms with a Mendelian inheritance and for <5% of all POAG cases...
  66. Fan B, Wang D, Fan D, Tam P, Lam D, Tham C, et al. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis. 2005;11:625-31 pubmed
    To evaluate the association of myocilin (MYOC), optineurin (OPTN), and apolipoprotein E (APOE) genes and their interactions in primary open angle glaucoma (POAG)...
  67. Rakhmanov V, Nikitina N, Zakharova F, Astakhov I, Kvasova M, Vasil ev V, et al. [Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]. Genetika. 2005;41:1567-74 pubmed
    ..was analyzed for single-strand conformation polymorphism (SSCP) to reveal sequence variants in exon 3 of the myocilin gene (MYOC/TIGR) and in exons 4 and 5 of the optineurin gene (OPTN), where most of the mutations revealed ..
  68. Lopez Martinez F, Lopez Garrido M, Sanchez Sanchez F, Campos Mollo E, Coca Prados M, Escribano J. Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Mol Vis. 2007;13:862-72 pubmed
    To retrospectively investigate the contribution of myocilin (MYOC) and optineurin (OPTN) sequence variations to adult-onset ocular hypertension (OHT) and primary open-angle glaucoma (POAG) in Spanish patients...
  69. Wirtz M, Konstas A, Samples J, Kaltsos K, Economou A, Dimopoulos A, et al. Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village. Mol Vis. 2008;14:774-81 pubmed
    ..The incidence of glaucoma approached 18% in this small isolated village. Myocilin variants were present in almost half of the individuals screened with Arg76Lys and Thr377Met being the most ..
  70. Liu T, Zeng D, Zeng C, He X. Association between MYOC.mt1 promoter polymorphism and risk of primary open-angle glaucoma: a systematic review and meta-analysis. Med Sci Monit. 2008;14:RA87-93 pubmed
    ..However, the evidence of publication bias suggests that more large prospective cohort studies with precise design are required to confirm an association between MYOC.mt1 and POAG. ..
  71. Ennis S, Gibson J, Griffiths H, Bunyan D, Cree A, Robinson D, et al. Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients. Eye (Lond). 2010;24:328-33 pubmed publisher
    To identify the prevalence of myocilin gene mutations in a UK glaucoma cohort...
  72. Avisar I, Lusky M, Robinson A, Shohat M, Dubois S, Raymond V, et al. The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East. Mol Vis. 2009;15:1945-50 pubmed
    To search for the genetic cause of juvenile open-angle glaucoma (JOAG) in a Caucasian family and to perform genotype/phenotype correlation studies in the kindred.
  73. McDonald K, Abramson K, Beltran M, Ramirez M, Alvarez M, Ventura A, et al. Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG. J Hum Genet. 2010;55:697-700 pubmed publisher
    Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations...
  74. Chen J, Cai S, Yu W, Yan N, Tang L, Chen X, et al. Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma. Mol Vis. 2011;17:1431-5 pubmed
    To analyze two candidate genes, trabecular meshwork inducible glucocorticoid response (MYOC/TIGR) and human dioxin-inducible cytochrome P450 (CYP1B1), in a Chinese pedigree of primary open-angle glaucoma...
  75. Stoilova D, Child A, Brice G, Desai T, Barsoum Homsy M, Ozdemir N, et al. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet. 1998;35:989-92 pubmed
    Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG)...
  76. Fingert J, Heon E, Liebmann J, Yamamoto T, Craig J, Rait J, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905 pubmed
    ..A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients...
  77. Wentz Hunter K, Ueda J, Shimizu N, Yue B. Myocilin is associated with mitochondria in human trabecular meshwork cells. J Cell Physiol. 2002;190:46-53 pubmed
    ..The myocilin gene has recently been directly linked to open-angle glaucomas...
  78. Ikezoe T, Takeuchit S, Komatsu N, Okada M, Fukushima A, Ueno H, et al. Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan. Int J Mol Med. 2003;12:259-61 pubmed
    ..we examined 58 cases of sporadic glaucoma from Japan to clarify the relationship between the mutations of the GLC1A gene and sporadic glaucoma in Japan...
  79. Izumi K, Mashima Y, Obazawa M, Ohtake Y, Tanino T, Miyata H, et al. Variants of the myocilin gene in Japanese patients with normal-tension glaucoma. Ophthalmic Res. 2003;35:345-50 pubmed
    b>Myocilin (MYOC) mutations are associated with juvenile- and adult-onset primary open-angle glaucoma (POAG). The purpose of this study was to determine whether MYOC gene mutations are associated with normal-tension glaucoma (NTG)...
  80. Markandaya M, Ramesh T, Selvaraju V, Dorairaj S, Prakash R, Shetty J, et al. Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. Ophthalmic Genet. 2004;25:11-23 pubmed
    ..In India, approximately 1.5 million people are blind due to glaucoma. Mutations in the MYOC gene located at the GLC1A locus on chromosome 1q21-q31 have been found in patients with juvenile-onset primary open-angle glaucoma (J-POAG)...
  81. Aldred M, Baumber L, Hill A, Schwalbe E, Goh K, Karwatowski W, et al. Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing. Hum Genet. 2004;115:428-31 pubmed
    ..important risk factor and previous studies indicate that approximately 5% of POAG results from mutations in the myocilin ( MYOC) gene, raising the possibility of identifying individuals genetically predisposed to glaucoma...
  82. Chakrabarti S, Kaur K, Komatireddy S, Acharya M, Devi K, Mukhopadhyay A, et al. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis. 2005;11:111-3 pubmed
    b>Myocilin gene defects have been originally implicated in primary open angle glaucoma (POAG). Based on multiple reports for the occurrence of Gln48His mutation (c...
  83. Hewitt A, Bennett S, Richards J, Dimasi D, Booth A, Inglehearn C, et al. Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. Arch Ophthalmol. 2007;125:98-104 pubmed
    To determine the phenotype of an Australian pedigree with the myocilin (MYOC) Gly252Arg mutation, comparing it with other pedigrees carrying the same mutation...
  84. Sanchez Sanchez F, Martínez Redondo F, Aroca Aguilar J, Coca Prados M, Escribano J. Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease. J Biol Chem. 2007;282:27810-24 pubmed
    MYOC, a gene involved in different types of glaucoma, encodes myocilin, a secreted glycoprotein of unknown function, consisting of an N-terminal leucine-zipper-like domain, a central linker region, and a C-terminal olfactomedin-like ..
  85. Qin L, Li J. [Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi]. Yan Ke Xue Bao. 2007;23:75-8 pubmed
    ..One missense MYOC mutation, Ser341Pro, was identified in Pedigree 2, but there was no mutation presented in unaffected relatives and normal controls. MYOC Ser341Pro mutation may be account for the POAG in the Pedigree 2. ..
  86. Zhou Y, Grinchuk O, Tomarev S. Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma. Invest Ophthalmol Vis Sci. 2008;49:1932-9 pubmed publisher
    To developed a genetic mouse model of primary open-angle glaucoma induced by expression of mutated human myocilin in transgenic mice and to test whether expression of mutated human myocilin in the eye angle structures produces more ..
  87. Suri F, Kalhor R, Zargar S, Nilforooshan N, Yazdani S, Nezari H, et al. Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. Mol Vis. 2008;14:2349-56 pubmed
    ..The entire coding sequences of CYP1B1 and myocilin (MYOC) genes were sequenced in all individuals assessed by the microarray assay to carry a mutation...
  88. Chen J, Xu L, Li Y, Dong B. [Study on MYOC/TIGR gene mutations in primary open-angle glaucoma]. Zhonghua Yan Ke Za Zhi. 2011;47:122-8 pubmed
    To study the mutations in the trabecular meshwork induced-glucocorticoid response protein gene (TIGR/MYOC) in Chinese POAG patients. It was a case-control study...
  89. Whigham B, Williams S, Liu Y, Rautenbach R, Carmichael T, Wheeler J, et al. Myocilin mutations in black South Africans with POAG. Mol Vis. 2011;17:1064-9 pubmed
    b>Myocilin (MYOC) mutations are associated with primary open-angle glaucoma (POAG) in multiple populations. Here we examined the role of MYOC mutations in a black South African population with primary open-angle glaucoma (POAG)...
  90. Orwig S, Perry C, Kim L, Turnage K, Zhang R, Vollrath D, et al. Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin. J Mol Biol. 2012;421:242-55 pubmed publisher
    b>Myocilin is a protein found in the extracellular matrix of trabecular meshwork tissue, the anatomical region of the eye involved in regulating intraocular pressure...
  91. Escribano J, Ortego J, Coca Prados M. Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins. J Biochem. 1995;118:921-31 pubmed
    ..The subtractive cDNA library reported in this work should be very useful for identifying potential candidate genes in ocular abnormalities affecting the ciliary body, or involved in the regulation of intraocular pressure. ..
  92. Nguyen T, Chen P, Huang W, Chen H, Johnson D, Polansky J. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem. 1998;273:6341-50 pubmed
    Expression of the trabecular meshwork inducible glucocorticoid response (TIGR) gene progressively increases from barely detectable levels to greater than 2% of total cellular mRNA over 10 days exposure of trabecular meshwork (TM) cells to ..