Citations for
1CYP1B1, LTBP2
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, López-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L.
Eur J Hum Genet 19(3):326-33. doi: 10.1038/ejhg.2010.181. Epub 2010 Nov 17. 2011
2CYP1B1
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A.
Invest Ophthalmol Vis Sci. 51(1):249-54. 2010
3CYP1B1, GLC3A
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
Chakrabarti S, Ghanekar Y, Kaur K, Kaur I, Mandal AK, Rao KN, Parikh RS, Thomas R, Majumder PP.
Hum Mol Genet 19(20):4083-90. Epub 2010 Jul 21. 2010
4CYP1B1, GLC1A, GLC3A, MYOC
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 15:1530-6. 2009
5CYP1B1
Heterozygous loss of function variants in CYP1B1 predispose to primary open angle glaucoma.
Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A.
Invest Ophthalmol Vis Sci nvest Ophthalmol Vis Sci. 2009 Jul 30. [Epub ahead of print] 2009
6CYP1B1
CYP1B1, a developmental gene with a potential role in glaucoma therapy.
Choudhary D, Jansson I, Schenkman JB.
Xenobiotica 39(8):606-15. Review. 2009
7CYP1B1
CYP1B1, but not CYP1A1, is downregulated by promoter methylation in colorectal cancers.
Habano W, Gamo T, Sugai T, Otsuka K, Wakabayashi G, Ozawa S.
Int J Oncol 34(4):1085-91. 2009
8CYP1B1
Expression of cytochrome P450 (CYP) enzymes in human nonpigmented ciliary epithelial cells: induction of CYP1B1 expression by TCDD.
Volotinen M, Mäenpää J, Kankuri E, Oksala O, Pelkonen O, Nakajima M, Yokoi T, Hakkola J.
Invest Ophthalmol Vis Sci. 50(7):3099-105. 2009
9CYP1B1, GLC3A
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B.
Hum Mutat 29(9):1147-53. 2008
10CYP1B1, GLC3A
A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS.
J Glaucoma 16(1):104-11. 2007
11CYP1B1, GLC3A
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
Dimasi D, Hewitt A, Straga T, Pater J, Mackinnon J, Elder J, Casey T, Mackey D, Craig J.
Clin Genet 72(3):255-260. 2007
12CYP1B1, GLC3A
Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.
Messina-Baas OM, González-Huerta LM, Chima-Galán C, Kofman-Alfaro SH, Rivera-Vega MR, Babayán-Mena I, Cuevas-Covarrubias SA.
Ophthalmic Res 39(1):17-23. Epub 2006 Dec 11. 2007
13CYP1B1, GLC1A, GLC1E, GLC3A, MYOC, OPTN
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 13:667-76. 2007
14CYP1B1
Regulation and expression of human CYP7B1 in prostate: overexpression of CYP7B1 during progression of prostatic adenocarcinoma.
Olsson M, Gustafsson O, Skogastierna C, Tolf A, Rietz BD, Morfin R, Rane A, Ekström L.
Prostate 67(13):1439-46. 2007
15CYP1B1
Further support of the role of CYP1B1 in patients with Peters anomaly.
Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R, Levin A, Heon E.
Mol Vis 12:506-10. 2006
16CYP1B1, GLC3A
Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics.
Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA.
Am J Ophthalmol 142(6):993-1004. Epub 2006 Sep 1. 2006
17CYP1B1, CREB1, NR5A1
Binding of steroidogenic factor-1 to the regulatory region might not be critical for transcriptional regulation of the human CYP1B1 gene.
Tsuchiya Y, Nakajima M, Takagi S, Katoh M, Zheng W, Jefcoate CR, Yokoi T.
J Biochem 139(3):527-34. 2006
18CYP1B1
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
Lopez-Garrido MP, S‡nchez-S‡nchez F, Lopez-Martinez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J.
Mol Vis 12:748-55. 2006
19GLC1A, MYOC, CYP1B1
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 67(4):335-40. 2005
20CYP1B1, CYP1A1, CYP2U1, CYP2E1, CYP2W1, CYP4B1, CYP4X1, CYP2R1
Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues.
Choudhary D, Jansson I, Stoilov I, Sarfarazi M, Schenkman JB.
Arch Biochem Biophys 436(1):50-61. 2005
21CYP1B1, GLC1-2p
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ.
J Med Genet 41(9):647-51. 2004
22CYP1B1
CYP1B1 gene in endometrial cancer.
Sasaki M, Kaneuchi M, Fujimoto S, Tanaka Y, Dahiya R.
Mol Cell Endocrinol 202(1-2):171-6. Review. 2003
23CYP1B1
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.
Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, John SW.
Science. 299(5612):1578-81. 2003
24CYP1B1, MYOC, PITX2
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, Heon E.
Am J Hum Genet 70(2):448-60. 2002
25CYP1B1, GLC3A, PTA2
Phenotypic heterogeneity of CYP1B1 : mutations in a patient with Peters' anomaly.
Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, HŽon E.
J Med Genet 38 : 324-326. 2001
26CYP1B1, GLC3A
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR.
Hum Mol Genet 9(3):367-374 2000
27CYP1B1, GLC3A
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
Plasilova M, et al.
J Med Genet 36(4):290-4. 1999
28CYP1B1, GLC3A
A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma.
Kakiuchi T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N.
Am J Ophthalmol 128(3):370-2 1999
29CYP1B1, GLC3A
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR.
Am J Hum Genet 62(2):325-33. 1998
30CYP1B1, GLC3A
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.
Stoilov I, et al.
Hum Mol Genet 6 : 641-647. 1997
31CYP1B1
Isolation and characterization of the human cytochrome P450 CYP1B1 gene.
Tang YM, et al.
J Biol Chem 271 : 28324-28330. 1996
32CYP1B1
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
Sutter TR, et al.
J Biol Chem 269 : 13092-13099. 1994