-
1
-
-
0033926590
-
Molecular genetics of primary congenital glaucoma
-
Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye 2000; 14:422-8.
-
(2000)
Eye
, vol.14
, pp. 422-428
-
-
Sarfarazi, M.1
Stoilov, I.2
-
2
-
-
0019936088
-
-
Gencik A, Gencikova A, Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet 1982; 61:193-7.
-
Gencik A, Gencikova A, Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet 1982; 61:193-7.
-
-
-
-
3
-
-
0030942553
-
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, Akarsu AN, Sarfarazi M. 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. Hum Mol Genet 1997; 6:641-7.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 641-647
-
-
Stoilov, I.1
Akarsu, A.N.2
Sarfarazi, M.3
-
5
-
-
0028880039
-
Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21and evidence for genetic heterogeneity
-
Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoup-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21and evidence for genetic heterogeneity. Genomics 1995; 30:171-7.
-
(1995)
Genomics
, vol.30
, pp. 171-177
-
-
Sarfarazi, M.1
Akarsu, A.N.2
Hossain, A.3
Turacli, M.E.4
Aktan, S.G.5
Barsoup-Homsy, M.6
Chevrette, L.7
Sayli, B.S.8
-
6
-
-
0029836678
-
A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region
-
Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996; 5:1199-203.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1199-1203
-
-
Akarsu, A.N.1
Turacli, M.E.2
Aktan, S.G.3
Barsoum-Homsy, M.4
Chevrette, L.5
Sayli, B.S.6
Sarfarazi, M.7
-
7
-
-
17344362827
-
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. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998; 62:325-33.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 325-333
-
-
Bejjani, B.A.1
Lewis, R.A.2
Tomey, K.F.3
Anderson, K.L.4
Dueker, D.K.5
Jabak, M.6
Astle, W.F.7
Otterud, B.8
Leppert, M.9
Lupski, J.R.10
-
8
-
-
0036240676
-
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees
-
Panicker SG, Reddy AB, Mandal AK, Ahmed N, Nagarajaram HA, Hasnain SE, Balasubramanian D. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002; 43:1358-66.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1358-1366
-
-
Panicker, S.G.1
Reddy, A.B.2
Mandal, A.K.3
Ahmed, N.4
Nagarajaram, H.A.5
Hasnain, S.E.6
Balasubramanian, D.7
-
9
-
-
2442723700
-
Identification of a single ancestral CYP1B1 mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma
-
Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999; 36:290-4.
-
(1999)
J Med Genet
, vol.36
, pp. 290-294
-
-
Plasilova, M.1
Stoilov, I.2
Sarfarazi, M.3
Kadasi, L.4
Ferakova, E.5
Ferak, V.6
-
10
-
-
0034639693
-
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novoevents and a dominant modifier locus
-
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novoevents and a dominant modifier locus. Hum Mol Genet 2000; 9:367-74.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 367-374
-
-
Bejjani, B.A.1
Stockton, D.W.2
Lewis, R.A.3
Tomey, K.F.4
Dueker, D.K.5
Jabak, M.6
Astle, W.F.7
Lupski, J.R.8
-
11
-
-
28044436937
-
The Indian Genome Variation Consotium. The Indian Genome Variation database (IGVdb): A project overview
-
The Indian Genome Variation Consotium. The Indian Genome Variation database (IGVdb): a project overview. Hum Genet 2005; 118:1-11.
-
(2005)
Hum Genet
, vol.118
, pp. 1-11
-
-
-
12
-
-
17344368983
-
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
-
Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 1998; 62:573-84.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 573-584
-
-
Stoilov, I.1
Akarsu, A.N.2
Alozie, I.3
Child, A.4
Barsoum-Homsy, M.5
Turacli, M.E.6
Or, M.7
Lewis, R.A.8
Ozdemir, N.9
Brice, G.10
Aktan, S.G.11
Chevrette, L.12
Coca-Prados, M.13
Sarfarazi, M.14
-
13
-
-
58049113515
-
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol
-
Suri F, Kalhor R, Zargar SJ, Nilforooshan N, Yazdani S, Nezari H, Paylakhi SH, Narooie-Nejhad M, Bayat B, Sedaghati T, Ahmadian A, Elahi E. Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. Mol Vis 2008; 14:2349-56.
-
(2008)
Mol Vis
, vol.14
, pp. 2349-2356
-
-
Suri, F.1
Kalhor, R.2
Zargar, S.J.3
Nilforooshan, N.4
Yazdani, S.5
Nezari, H.6
Paylakhi, S.H.7
Narooie-Nejhad, M.8
Bayat, B.9
Sedaghati, T.10
Ahmadian, A.11
Elahi, E.12
-
14
-
-
33845416859
-
Disease causing mutations in proteins: Structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans
-
Achary MS, Reddy AB, Chakrabrata S, Panicker SG, Mandal AK, Ahmed N, Balasubramanian D, Hasnain SE, Nagarajaram HA. Disease causing mutations in proteins: Structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J 2006; 91:4329-39.
-
(2006)
Biophys J
, vol.91
, pp. 4329-4339
-
-
Achary, M.S.1
Reddy, A.B.2
Chakrabrata, S.3
Panicker, S.G.4
Mandal, A.K.5
Ahmed, N.6
Balasubramanian, D.7
Hasnain, S.E.8
Nagarajaram, H.A.9
-
15
-
-
55749105894
-
Characterization of biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma
-
Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Characterization of biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics 2008; 18:665-76.
-
(2008)
Pharmacogenet Genomics
, vol.18
, pp. 665-676
-
-
Choudhary, D.1
Jansson, I.2
Sarfarazi, M.3
Schenkman, J.B.4
-
16
-
-
0034854849
-
Novel Cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with Primary Congenital Glaucoma
-
Mashima Y, Suzuki Y, Sergeev Y, Ohtake Y, Tanino T, Kimura I, Miyata H, Aihara M, Tanihara H, Inatani M, Azuma N, Iwata T, Araie M. Novel Cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with Primary Congenital Glaucoma. Invest Ophthalmol Vis Sci 2001; 42:2211-6.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 2211-2216
-
-
Mashima, Y.1
Suzuki, Y.2
Sergeev, Y.3
Ohtake, Y.4
Tanino, T.5
Kimura, I.6
Miyata, H.7
Aihara, M.8
Tanihara, H.9
Inatani, M.10
Azuma, N.11
Iwata, T.12
Araie, M.13
-
17
-
-
0034639693
-
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. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000; 9:367-74.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 367-374
-
-
Bejjani, B.A.1
Stockton, D.W.2
Lewis, R.A.3
Tomey, K.F.4
Dueker, D.K.5
Jabak, M.6
Astle, W.F.7
Lupski, J.R.8
-
18
-
-
0034865641
-
Primary congenital glaucoma: Three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene
-
Michels-Rautenstrauss KG, Mardin CY, Zenker M, Jordan N, Gusek-Schneider GC, Rautenstrauss BW. Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J Glaucoma 2001; 10:354-7.
-
(2001)
J Glaucoma
, vol.10
, pp. 354-357
-
-
Michels-Rautenstrauss, K.G.1
Mardin, C.Y.2
Zenker, M.3
Jordan, N.4
Gusek-Schneider, G.C.5
Rautenstrauss, B.W.6
-
19
-
-
0036272051
-
Molecular genetics of primary congenital glaucoma in Brazil
-
Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 2002; 43:1820-7.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 1820-1827
-
-
Stoilov, I.R.1
Costa, V.P.2
Vasconcellos, J.P.3
Melo, M.B.4
Betinjane, A.J.5
Carani, J.C.6
Oltrogge, E.V.7
Sarfarazi, M.8
-
20
-
-
2142702294
-
Correlations of Genotype with Phenotype in Indian Patients with Primary Congenital Glaucoma
-
Panicker SG, Mandal AK, Reddy AB, Gothwal VK, Hasnain SE. Correlations of Genotype with Phenotype in Indian Patients with Primary Congenital Glaucoma. Invest Ophthalmol Vis Sci 2004; 45:1149-56.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 1149-1156
-
-
Panicker, S.G.1
Mandal, A.K.2
Reddy, A.B.3
Gothwal, V.K.4
Hasnain, S.E.5
-
21
-
-
2442723700
-
Identification of a single ancestral CYP1B1 mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma
-
Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999; 36:290-4.
-
(1999)
J Med Genet
, vol.36
, pp. 290-294
-
-
Plasilova, M.1
Stoilov, I.2
Sarfarazi, M.3
Kadasi, L.4
Ferakova, E.5
Ferak, V.6
-
22
-
-
0028276386
-
Complete cDNA Sequence of a Human Dioxin-inducible mRNA Identifies a New Gene Subfamily of Cytochrome P450 That Maps to Chromosome 2
-
Sutter TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW, Greenlee WF. Complete cDNA Sequence of a Human Dioxin-inducible mRNA Identifies a New Gene Subfamily of Cytochrome P450 That Maps to Chromosome 2. J Biol Chem 1994; 269:13092-9.
-
(1994)
J Biol Chem
, vol.269
, pp. 13092-13099
-
-
Sutter, T.R.1
Tang, Y.M.2
Hayes, C.L.3
Wo, Y.Y.4
Jabs, E.W.5
Li, X.6
Yin, H.7
Cody, C.W.8
Greenlee, W.F.9
-
23
-
-
0029796550
-
17β-Estradiol hydroxylation catalyzed by human cytochrome P450 lBl
-
Hayes CL, Spinkt DC, Spinkt BC, Caot JQ, Walker NJ, Sutter TR. 17β-Estradiol hydroxylation catalyzed by human cytochrome P450 lBl. Proc Natl Acad Sci USA 1996; 93:9776-81.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 9776-9781
-
-
Hayes, C.L.1
Spinkt, D.C.2
Spinkt, B.C.3
Caot, J.Q.4
Walker, N.J.5
Sutter, T.R.6
-
24
-
-
0026744568
-
Cytochrome P450 2E1 and 2A6 enzymes as major catalysts for metabolic activation of N-nitrosodialkylamines and tobacco-related nitrosamines in human liver microsomes
-
Yamazaki H, Inui Y, Yun CH, Guengerich FP, Shimada T. Cytochrome P450 2E1 and 2A6 enzymes as major catalysts for metabolic activation of N-nitrosodialkylamines and tobacco-related nitrosamines in human liver microsomes. Carcinogenesis 1992; 13:1789-94.
-
(1992)
Carcinogenesis
, vol.13
, pp. 1789-1794
-
-
Yamazaki, H.1
Inui, Y.2
Yun, C.H.3
Guengerich, F.P.4
Shimada, T.5
-
25
-
-
0034057188
-
Biosynthesis of all trans-retinol: Catalysis of all-trans-retinol oxidation by human p-450 cytochrome
-
Chen H, Howald WN, Juchau MR. Biosynthesis of all trans-retinol: catalysis of all-trans-retinol oxidation by human p-450 cytochrome. Drug Metab Dispos 2000; 28:315-22.
-
(2000)
Drug Metab Dispos
, vol.28
, pp. 315-322
-
-
Chen, H.1
Howald, W.N.2
Juchau, M.R.3
-
26
-
-
0032744474
-
Retinoid metabolizing enzymes in development
-
Swindell EC, Eichele G. Retinoid metabolizing enzymes in development. Biofactors 1999; 10:85-9.
-
(1999)
Biofactors
, vol.10
, pp. 85-89
-
-
Swindell, E.C.1
Eichele, G.2
-
27
-
-
0026376260
-
Proposed role of drug-metabolizing enzymes: Regulation of steady state levels of the ligands that affect growth, homeostasis, differentiation and neuroendocrine functions
-
Nebert DW. Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that affect growth, homeostasis, differentiation and neuroendocrine functions. Mol Endocrinol 1991; 5:1203-14.
-
(1991)
Mol Endocrinol
, vol.5
, pp. 1203-1214
-
-
Nebert, D.W.1
-
29
-
-
0027376024
-
Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s
-
Yamazaki S, Sato K, Suhara K, Sakaguchi M, Mihara K, Omura T. Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s. J Biochem 1993; 114:652-7.
-
(1993)
J Biochem
, vol.114
, pp. 652-657
-
-
Yamazaki, S.1
Sato, K.2
Suhara, K.3
Sakaguchi, M.4
Mihara, K.5
Omura, T.6
-
30
-
-
0030008731
-
Activation of chemically diverse carcinogens by human cytochrome P4501B1
-
Shimada T, Hayes CL, Yamazaki S, Amin S, Hecht SS, Guengerich FP, Sutter TR. Activation of chemically diverse carcinogens by human cytochrome P4501B1. Cancer Res 1996; 56:2979-84.
-
(1996)
Cancer Res
, vol.56
, pp. 2979-2984
-
-
Shimada, T.1
Hayes, C.L.2
Yamazaki, S.3
Amin, S.4
Hecht, S.S.5
Guengerich, F.P.6
Sutter, T.R.7
-
31
-
-
0028276386
-
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2
-
Sutter TR, Yang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW, Greenlee WF. Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J Biol Chem 1994; 269:13092-9.
-
(1994)
J Biol Chem
, vol.269
, pp. 13092-13099
-
-
Sutter, T.R.1
Yang, Y.M.2
Hayes, C.L.3
Wo, Y.Y.4
Jabs, E.W.5
Li, X.6
Yin, H.7
Cody, C.W.8
Greenlee, W.F.9
-
32
-
-
0028339108
-
Mouse cytochrome P-450EF, representative of a new 1B subfamily of cytochrome P-450s. Cloning, sequence determination, and tissue expression
-
Savas U, Bhattacharaya KK, Christou M, Alexander DL, Jefcoate CR. Mouse cytochrome P-450EF, representative of a new 1B subfamily of cytochrome P-450s. Cloning, sequence determination, and tissue expression. J Biol Chem 1994; 269:14905-11.
-
(1994)
J Biol Chem
, vol.269
, pp. 14905-14911
-
-
Savas, U.1
Bhattacharaya, K.K.2
Christou, M.3
Alexander, D.L.4
Jefcoate, C.R.5
-
33
-
-
0029009343
-
Identification of a rat adrenal cytochrome P450 active in poly cyclic hydrocarbon metabolism as rat CYP1B1. Demonstration of a unique tissue- specific pattern of hormonal and aryl hydrocarbon receptor- linked regulation
-
Bhattacharyya KK, Brake PB, Eltom SE, Otto SA, Jefcoate CR. Identification of a rat adrenal cytochrome P450 active in poly cyclic hydrocarbon metabolism as rat CYP1B1. Demonstration of a unique tissue- specific pattern of hormonal and aryl hydrocarbon receptor- linked regulation. J Biol Chem 1995; 270:11595-602.
-
(1995)
J Biol Chem
, vol.270
, pp. 11595-11602
-
-
Bhattacharyya, K.K.1
Brake, P.B.2
Eltom, S.E.3
Otto, S.A.4
Jefcoate, C.R.5
-
34
-
-
0026018303
-
A novel adrenocorticotropin-inducible cytochrome P450 from rat adrenal microsomes catalyzes polycyclic aromatic hydrocarbon metabolism
-
Otto S, Marcus C, Pidgeon C, Jefcoate C. A novel adrenocorticotropin-inducible cytochrome P450 from rat adrenal microsomes catalyzes polycyclic aromatic hydrocarbon metabolism. Endocrinology 1991; 129:970-82.
-
(1991)
Endocrinology
, vol.129
, pp. 970-982
-
-
Otto, S.1
Marcus, C.2
Pidgeon, C.3
Jefcoate, C.4
-
35
-
-
0029048701
-
Rat CYP1B1: An adrenal cytochrome P450 that exhibits sex-dependent expression in livers and kidneys of TCDD-treated animals
-
Walker NJ, Gastel JA, Costa LT, Clark GC, Lucier GW, Sutter TR. Rat CYP1B1: an adrenal cytochrome P450 that exhibits sex-dependent expression in livers and kidneys of TCDD-treated animals. Carcinogenesis 1995; 16:1319-27.
-
(1995)
Carcinogenesis
, vol.16
, pp. 1319-1327
-
-
Walker, N.J.1
Gastel, J.A.2
Costa, L.T.3
Clark, G.C.4
Lucier, G.W.5
Sutter, T.R.6
-
36
-
-
15844415263
-
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. Myocilin gene implicated in primary congenital glaucoma. Clin Genet 2005; 67:335-40.
-
(2005)
Clin Genet
, vol.67
, pp. 335-340
-
-
Kaur, K.1
Reddy, A.B.2
Mukhopadhyay, A.3
Mandal, A.K.4
Hasnain, S.E.5
Ray, K.6
Thomas, R.7
Balasubramanian, D.8
Chakrabarti, S.9
-
37
-
-
44149120064
-
-
Bhattacharjee A, Banerjee D, Mookherjee S, Acharya M, Banerjee A, Ray A, Sen A. Variation Consortium TI, Ray K. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis 2008; 14:841-50.
-
Bhattacharjee A, Banerjee D, Mookherjee S, Acharya M, Banerjee A, Ray A, Sen A. Variation Consortium TI, Ray K. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis 2008; 14:841-50.
-
-
-
-
38
-
-
0023761040
-
Teratogens and craniofacial malformations: Relationships to cell death
-
Sulik KK, Cook CS, Webster WS. Teratogens and craniofacial malformations: relationships to cell death. Development 1988; 103:213-31.
-
(1988)
Development
, vol.103
, pp. 213-231
-
-
Sulik, K.K.1
Cook, C.S.2
Webster, W.S.3
|