{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:40:55Z","timestamp":1789756855340,"version":"4.0.1"},"reference-count":42,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2556,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2008,9]]},"DOI":"10.1002\/humu.20786","type":"journal-article","created":{"date-parts":[[2008,5,10]],"date-time":"2008-05-10T00:46:57Z","timestamp":1210380417000},"page":"1147-1153","source":"Crossref","is-referenced-by-count":53,"title":["Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme"],"prefix":"10.1155","volume":"29","author":[{"given":"Gabriela","family":"Chavarria-Soley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinrich","family":"Sticht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Aklillu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Ingelman-Sundberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pasutto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Rautenstrauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"10.1002\/humu.20786-BIB1","first-page":"399","article-title":"Primary role of CYP1B1 in Indian juvenile-onset POAG patients","volume":"12","author":"Acharya","year":"2006","journal-title":"Mol Vis"},{"key":"10.1002\/humu.20786-BIB2","doi-asserted-by":"crossref","first-page":"211","DOI":"10.2174\/1389200043335621","article-title":"Cytochrome P450 gene polymorphism and cancer","volume":"5","author":"Agundez","year":"2004","journal-title":"Curr Drug Metab"},{"key":"10.1002\/humu.20786-BIB3","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.bbrc.2005.07.114","article-title":"Anti-apoptotic role of retinoic acid in the inner ear of noise-exposed mice","volume":"335","author":"Ahn","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.20786-BIB4","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1124\/mol.61.3.586","article-title":"Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population","volume":"61","author":"Aklillu","year":"2002","journal-title":"Mol Pharmacol"},{"key":"10.1002\/humu.20786-BIB5","doi-asserted-by":"crossref","first-page":"5105","DOI":"10.1158\/0008-5472.CAN-05-0113","article-title":"Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene","volume":"65","author":"Aklillu","year":"2005","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20786-BIB6","first-page":"1458","article-title":"Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations","volume":"13","author":"Bagiyeva","year":"2007","journal-title":"Mol Vis"},{"key":"10.1002\/humu.20786-BIB7","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","article-title":"A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding","volume":"72","author":"Bradford","year":"1976","journal-title":"Anal Biochem"},{"key":"10.1002\/humu.20786-BIB8","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1097\/01.ijg.0000243467.28590.6a","article-title":"Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD)","volume":"15","author":"Chavarria-Soley","year":"2006","journal-title":"J Glaucoma"},{"key":"10.1002\/humu.20786-BIB9","first-page":"523","article-title":"Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations","volume":"12","author":"Chavarria-Soley","year":"2006","journal-title":"Mol Vis"},{"key":"10.1002\/humu.20786-BIB10","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0090-9556(24)15367-6","article-title":"Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human P-450 cytochromes","volume":"28","author":"Chen","year":"2000","journal-title":"Drug Metab Dispos"},{"key":"10.1002\/humu.20786-BIB11","first-page":"66","article-title":"A compound heterozygous change found in Peters' anomaly","volume":"11","author":"Churchill","year":"2005","journal-title":"Mol Vis"},{"key":"10.1002\/humu.20786-BIB12","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/j.bbagen.2006.07.005","article-title":"The ins and outs of cytochrome P450\u2009s","volume":"1770","author":"Cojocaru","year":"2007","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.20786-BIB13","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1002\/humu.9197","article-title":"Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France","volume":"22","author":"Colomb","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20786-BIB14","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/glia.20153","article-title":"Retinoic acid inhibits expression of TNF-alpha and iNOS in activated rat microglia","volume":"50","author":"Dheen","year":"2005","journal-title":"Glia"},{"key":"10.1002\/humu.20786-BIB15","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1080\/13816810490902648","article-title":"Molecular basis of Peters anomaly in Saudi Arabia","volume":"25","author":"Edward","year":"2004","journal-title":"Ophthalmic Genet"},{"key":"10.1002\/humu.20786-BIB16","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000309028","article-title":"Congenital glaucoma and its inheritance","volume":"181","author":"Francois","year":"1980","journal-title":"Ophthalmologica"},{"key":"10.1002\/humu.20786-BIB17","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1074\/jbc.272.2.1127","article-title":"An active site substitution, F87\u2009V, converts cytochrome P450 BM-3 into a regio- and stereoselective (14S,15R)-arachidonic acid epoxygenase","volume":"272","author":"Graham-Lorence","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20786-BIB18","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1006\/abbi.1999.1350","article-title":"How similar are P450\u2009s and what can their differences teach us?","volume":"369","author":"Graham","year":"1999","journal-title":"Arch Biochem Biophys"},{"key":"10.1002\/humu.20786-BIB19","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0022-2836(02)00442-4","article-title":"Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations","volume":"320","author":"Guerois","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.20786-BIB20","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"key":"10.1002\/humu.20786-BIB21","first-page":"3440","article-title":"Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity","volume":"60","author":"Hanna","year":"2000","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20786-BIB22","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1097\/00008571-200112000-00007","article-title":"Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism","volume":"11","author":"Jansson","year":"2001","journal-title":"Pharmacogenetics"},{"key":"10.1002\/humu.20786-BIB23","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1097\/00008571-200006000-00008","article-title":"Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol","volume":"10","author":"Li","year":"2000","journal-title":"Pharmacogenetics"},{"key":"10.1002\/humu.20786-BIB24","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1126\/science.1080095","article-title":"Modification of ocular defects in mouse developmental glaucoma models by tyrosinase","volume":"299","author":"Libby","year":"2003","journal-title":"Science"},{"key":"10.1002\/humu.20786-BIB25","first-page":"748","article-title":"Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma","volume":"12","author":"Lopez-Garrido","year":"2006","journal-title":"Mol Vis"},{"key":"10.1002\/humu.20786-BIB26","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1006\/jmbi.2000.4155","article-title":"How do substrates enter and products exit the buried active site of cytochrome P450cam? 2. Steered molecular dynamics and adiabatic mapping of substrate pathways","volume":"303","author":"Ludemann","year":"2000","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.20786-BIB27","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1093\/carcin\/bgg088","article-title":"Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol","volume":"24","author":"Mammen","year":"2003","journal-title":"Carcinogenesis"},{"key":"10.1002\/humu.20786-BIB28","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1006\/abbi.2000.1808","article-title":"Characterization and functional analysis of two common human cytochrome P450 1B1 variants","volume":"378","author":"McLellan","year":"2000","journal-title":"Arch Biochem Biophys"},{"key":"10.1002\/humu.20786-BIB29","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1136\/jmg.2004.020024","article-title":"CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma","volume":"41","author":"Melki","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20786-BIB30","first-page":"1012","article-title":"Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma","volume":"11","author":"Melki","year":"2005","journal-title":"Mol Vis"},{"key":"10.1002\/humu.20786-BIB31","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1016\/S0021-9258(20)82244-3","article-title":"The carbon monoxide-binding pigment of liver microsomes. I. Evidence for its hemoprotein nature","volume":"239","author":"Omura","year":"1964","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20786-BIB32","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/S0968-0004(00)89080-5","article-title":"RASMOL: biomolecular graphics for all","volume":"20","author":"Sayle","year":"1995","journal-title":"Trends Biochem Sci"},{"key":"10.1002\/humu.20786-BIB33","doi-asserted-by":"crossref","first-page":"13196","DOI":"10.1073\/pnas.2133986100","article-title":"An open conformation of mammalian cytochrome P450 2B4 at 1.6-A resolution","volume":"100","author":"Scott","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20786-BIB34","doi-asserted-by":"crossref","first-page":"5147","DOI":"10.1242\/dev.02100","article-title":"Retinoic acid regulates the expression of dorsoventral topographic guidance molecules in the chick retina","volume":"132","author":"Sen","year":"2005","journal-title":"Development"},{"key":"10.1002\/humu.20786-BIB35","doi-asserted-by":"crossref","first-page":"e6","DOI":"10.1136\/jmg.2003.010777","article-title":"Founder mutations of CYP1B1 gene in patients with ongenital glaucoma from the United States and Brazil","volume":"41","author":"Sena","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20786-BIB36","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/carcin\/20.8.1607","article-title":"Catalytic properties of polymorphic human cytochrome P450 1B1 variants","volume":"20","author":"Shimada","year":"1999","journal-title":"Carcinogenesis"},{"key":"10.1002\/humu.20786-BIB37","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/hmg\/6.4.641","article-title":"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","volume":"6","author":"Stoilov","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20786-BIB38","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1515\/DMDI.2001.18.1.33","article-title":"Roles of cytochrome p450 in development","volume":"18","author":"Stoilov","year":"2001","journal-title":"Drug Metabol Drug Interact"},{"key":"10.1002\/humu.20786-BIB39","first-page":"1820","article-title":"Molecular genetics of primary congenital glaucoma in Brazil","volume":"43","author":"Stoilov","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.20786-BIB40","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/0300-9084(90)90070-W","article-title":"Maximizing the expression of mammalian cytochrome P-450 monooxygenase activities in yeast cells","volume":"72","author":"Urban","year":"1990","journal-title":"Biochimie"},{"key":"10.1002\/humu.20786-BIB41","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/jmg.38.5.324","article-title":"Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly","volume":"38","author":"Vincent","year":"2001","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20786-BIB42","doi-asserted-by":"crossref","first-page":"8593","DOI":"10.1523\/JNEUROSCI.4488-06.2007","article-title":"Disease gene candidates revealed by expression profiling of retinal ganglion cell development","volume":"27","author":"Wang","year":"2007","journal-title":"J Neurosci"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20786","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20786","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T05:34:58Z","timestamp":1738215298000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9]]},"references-count":42,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2008,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20786","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9]]}}}