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Items: 1 to 20 of 191

1.

Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.

Mookherjee S, Acharya M, Banerjee D, Bhattacharjee A, Ray K.

PLoS One. 2012;7(9):e45077. doi: 10.1371/journal.pone.0045077. Epub 2012 Sep 21.

2.

Myocilin gene implicated in primary congenital glaucoma.

Kaur K, Reddy AB, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, Thomas R, Balasubramanian D, Chakrabarti S.

Clin Genet. 2005 Apr;67(4):335-40.

PMID:
15733270
3.

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ; Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG.

Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.

4.
5.

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK.

Mol Vis. 2007 Apr 30;13:667-76.

6.

Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.

Mol Vis. 2010 Jul 2;16:1215-26.

7.

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

Gobeil S, Rodrigue MA, Moisan S, Nguyen TD, Polansky JR, Morissette J, Raymond V.

Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3560-7.

PMID:
15452063
8.

Interaction between two glaucoma genes, optineurin and myocilin.

Park BC, Tibudan M, Samaraweera M, Shen X, Yue BY.

Genes Cells. 2007 Aug;12(8):969-79.

9.

Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R.

Mol Vis. 2007 Aug 27;13:1458-68.

PMID:
17893647
10.

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

Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC.

Hum Mol Genet. 2001 Jan 15;10(2):117-25.

PMID:
11152659
11.

A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Cai SP, Muhemaiti P, Yin Y, Cheng H, Di Ya A, Keyimu M, Cao X, Fan N, Jiang L, Yan N, Zhou X, Wang Y, Liu X.

Mol Vis. 2012;18:1944-51. Epub 2012 Jul 18.

12.

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E.

Am J Hum Genet. 2002 Feb;70(2):448-60. Epub 2002 Jan 3.

13.

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.

Chen J, Cai SP, Yu W, Yan N, Tang L, Chen X, Liu X.

Mol Vis. 2011;17:1431-5. Epub 2011 May 31.

14.

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

Chen X, Yan N, Yun H, Sun J, Yu M, Zhou J, Cao G, Yin H, Li M, Liu X.

Mol Vis. 2009 Aug 7;15:1530-6.

15.

Cystatin a, a potential common link for mutant myocilin causative glaucoma.

Kennedy KD, AnithaChristy SA, Buie LK, Borrás T.

PLoS One. 2012;7(5):e36301. doi: 10.1371/journal.pone.0036301. Epub 2012 May 15.

16.

CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma.

Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, Sun X.

Arch Ophthalmol. 2008 Oct;126(10):1443-7. doi: 10.1001/archopht.126.10.1443.

PMID:
18852424
17.

A clinical and molecular genetics study of primary congenital glaucoma in South Korea.

Suh W, Kee C.

Br J Ophthalmol. 2012 Nov;96(11):1372-7. doi: 10.1136/bjophthalmol-2012-301517. Epub 2012 Sep 1.

PMID:
22942166
18.

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ, Suh W, Park SC, Kim CY, Park KH, Kook MS, Kim YY, Kim CS, Park CK, Ki CS, Kee C.

Mol Vis. 2011;17:2093-101. Epub 2011 Aug 9.

19.

Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.

Jia LY, Gong B, Pang CP, Huang Y, Lam DS, Wang N, Yam GH.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3743-9. doi: 10.1167/iovs.08-3151. Epub 2009 Feb 21.

PMID:
19234343

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