{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T22:16:46Z","timestamp":1790893006829,"version":"4.1.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2000,5,1]],"date-time":"2000-05-01T00:00:00Z","timestamp":957139200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2000,5]]},"DOI":"10.1038\/eye.2000.126","type":"journal-article","created":{"date-parts":[[2011,7,6]],"date-time":"2011-07-06T12:41:35Z","timestamp":1309956095000},"page":"422-428","source":"Crossref","is-referenced-by-count":130,"title":["Molecular genetics of primary congenital glaucoma"],"prefix":"10.1038","volume":"14","author":[{"given":"Mansoor","family":"Sarfarazi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivaylo","family":"Stoilov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFeye2000126_CR1","unstructured":"Anderson JR . Hydrophthalmia or congenital glaucoma: its causes, treatment and outlook. Cambridge: Cambridge University Press, 1939."},{"key":"BFeye2000126_CR2","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1056\/NEJM199304153281507","volume":"328","author":"HA Quigley","year":"1993","unstructured":"Quigley HA . Open-angle glaucoma. N Engl J Med 1993;328:1097\u2013106","journal-title":"N Engl J Med"},{"key":"BFeye2000126_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0039-6257(83)90174-1","volume":"28","author":"V De Luise","year":"1983","unstructured":"De Luise V, Anderson DR . Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 1983;28:1\u201319","journal-title":"Surv Ophthalmol"},{"key":"BFeye2000126_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0002-9394(55)92114-0","volume":"40","author":"O Barkan","year":"1955","unstructured":"Barkan O . Pathogenesis of congenital glaucoma. Am J Ophthalmol 1955;40:1\u201311","journal-title":"Am J Ophthalmol"},{"key":"BFeye2000126_CR5","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1001\/archopht.1955.00930010791002","volume":"53","author":"L Allen","year":"1955","unstructured":"Allen L, Burion HM, Braley AE . A new concept of development of the anterior chamber angle: its relationship to developmental glaucoma and other structural anomalies. Arch Ophthalmol 1955;53:783\u201398","journal-title":"Arch Ophthalmol"},{"key":"BFeye2000126_CR6","first-page":"507","volume":"56","author":"EA Maumenee","year":"1958","unstructured":"Maumenee EA . The pathogenesis of congenital glaucoma: a new theory. Trans Am Ophthalmol Soc 1958;56:507\u201370","journal-title":"Trans Am Ophthalmol Soc"},{"key":"BFeye2000126_CR7","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1016\/0002-9394(79)90643-3","volume":"88","author":"C Kupfer","year":"1979","unstructured":"Kupfer C, Kaiser-Kupfer M . Observations on the development of the anterior chamber angle with reference to the pathogenesis of congenital glaucomas. Am J Ophthalmol 1979;88:424\u20136","journal-title":"Am J Ophthalmol"},{"key":"BFeye2000126_CR8","first-page":"458","volume":"79","author":"DR Anderson","year":"1981","unstructured":"Anderson DR . The development of the trabecular meshwork and its abnormality in primary infantile glaucoma. Trans Am Ophthalmol Soc 1981;79:458\u201385","journal-title":"Trans Am Ophthalmol Soc"},{"key":"BFeye2000126_CR9","doi-asserted-by":"crossref","unstructured":"Shaffer RN, Weiss DI . Congenital and pediatric glaucomas. St Louis: Mosby, 1970.","DOI":"10.1097\/00006324-197106000-00015"},{"key":"BFeye2000126_CR10","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1001\/archopht.1984.01040031081030","volume":"102","author":"DHJr Hoskins","year":"1984","unstructured":"Hoskins DH Jr, Shaffer RN, Hetherington J . Anatomical classification of the developmental glaucomas. Arch Ophthalmol 1984;102:1331\u20136","journal-title":"Arch Ophthalmol"},{"key":"BFeye2000126_CR11","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/0014-4835(79)90164-7","volume":"29","author":"MC Johnston","year":"1979","unstructured":"Johnston MC, Noden DM, Hazelton RD, Coulmbre JL, Coulmbre AJ . Origins of avian ocular and periocular tissues. Exp Eye Res 1979;29:27\u201343","journal-title":"Exp Eye Res"},{"key":"BFeye2000126_CR12","unstructured":"Westerlund E . Clinical and genetic studies on the primary glaucoma diseases. Copenhagen: NYT Norsdic Forlag, Arnold Busck, 1947."},{"key":"BFeye2000126_CR13","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1159\/000416721","volume":"16","author":"A Gencik","year":"1989","unstructured":"Gencik A . Epidemiology and genetics of primary congenital glaucoma in Slovakia: description of a form of primary congenital glaucoma in gypsies with autosomal recessive inheritance and complete penetrance. Dev Ophthalmol 1989;16:75\u2013115","journal-title":"Dev Ophthalmol"},{"key":"BFeye2000126_CR14","unstructured":"Francois J . Heredity in ophthalmology. St Louis: Mosby, 1961:218\u201325."},{"key":"BFeye2000126_CR15","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1159\/000309028","volume":"181","author":"J Francois","year":"1972","unstructured":"Francois J . Congenital glaucoma and its inheritance. Ophthalmologica 1972;181:61\u201373","journal-title":"Ophthalmologica"},{"key":"BFeye2000126_CR16","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1007\/BF00917991","volume":"16","author":"ME Turacli","year":"1992","unstructured":"Turacli ME, Aktan SG, Sayli BS, Akarsu AN . Therapeutical and genetical aspects of congenital glaucomas. Int Ophthalmol 1992;16:359\u201362","journal-title":"Int Ophthalmol"},{"key":"BFeye2000126_CR17","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1086\/301725","volume":"62","author":"BA Bejjani","year":"1998","unstructured":"Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabac M, et al . 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\u201333","journal-title":"Am J Hum Genet"},{"key":"BFeye2000126_CR18","first-page":"548","volume-title":"System of ophthalmology","author":"S Duke-Elder","year":"1969","unstructured":"Duke-Elder S . Congenital deformities. In: Duke-Elder S. System of ophthalmology. St Louis: Mosby, 1969:548\u201365."},{"key":"BFeye2000126_CR19","first-page":"257","volume":"2","author":"MR Jay","year":"1978","unstructured":"Jay MR, Rice NSC . Genetic implications of congenital glaucoma. Metab Ophthalmol 1978;2:257\u20138","journal-title":"Metab Ophthalmol"},{"key":"BFeye2000126_CR20","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1007\/BF00273314","volume":"46","author":"F Demenias","year":"1979","unstructured":"Demenias F, Bonaiti C, Briard ML, Feingold J, Frezal J . Congenital glaucoma: genetic models. Hum Genet 1979;46:305\u201317","journal-title":"Hum Genet"},{"key":"BFeye2000126_CR21","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1111\/j.1399-0004.1980.tb00142.x","volume":"17","author":"A Gencik","year":"1980","unstructured":"Gencik A, Gencikova A, Gerinec A . Genetic heterogeneity of congenital glaucoma. Clin Genet 1980;17:241\u20138","journal-title":"Clin Genet"},{"key":"BFeye2000126_CR22","first-page":"314","volume":"32","author":"D Botstein","year":"1980","unstructured":"Botstein D, White RL, Skolnik M, Davis RW . Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 1980;32:314\u201331","journal-title":"Am J Hum Genet"},{"key":"BFeye2000126_CR23","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1126\/science.2218515","volume":"250","author":"ED Green","year":"1990","unstructured":"Green ED, Olson MV . Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping. Science 1990;250:94\u20138","journal-title":"Science"},{"key":"BFeye2000126_CR24","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1006\/geno.1995.9888","volume":"30","author":"M Sarfarazi","year":"1995","unstructured":"Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, et al . Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995;30:171\u20137","journal-title":"Genomics"},{"key":"BFeye2000126_CR25","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1093\/hmg\/5.8.1199","volume":"5","author":"AN Akarsu","year":"1996","unstructured":"Akarsu AN, Turacli ME, Aktan GS, Barsoum-Homsy M, Chevrette L, Sayli SA, et al . A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996;5:1199\u2013203","journal-title":"Hum Mol Genet"},{"key":"BFeye2000126_CR26","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1159\/000022778","volume":"48","author":"M Plasilova","year":"1998","unstructured":"Plasilova M, Ferakova E, Kadasi L, Polakova H, Gerinec A, Ott J et al . Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia. Hum Hered 1998;48:30\u20133","journal-title":"Hum Hered"},{"key":"BFeye2000126_CR27","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1093\/hmg\/6.4.641","volume":"6","author":"I Stoilov","year":"1997","unstructured":"Stoilov I, Akarsu AN, Sarfarazi M . Identification of three different truncating mutations in the cytochrome P4501B1 (CYP1B1) gene 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\u20137","journal-title":"Hum Mol Genet"},{"key":"BFeye2000126_CR28","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1086\/301764","volume":"62","author":"I Stoilov","year":"1998","unstructured":"Stoilov I, Akarsu AN, Alozie I, et al . Sequence analysis and homology modelling 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\u201384","journal-title":"Am J Hum Genet"},{"key":"BFeye2000126_CR29","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1136\/jmg.36.4.290","volume":"36","author":"M Plasilova","year":"1999","unstructured":"Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V . Identification of single ancestral CYP1B1 mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999;36:290\u20134","journal-title":"J Med Genet"},{"key":"BFeye2000126_CR30","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1016\/S0002-9394(99)00143-9","volume":"128","author":"T Kakiuchi","year":"1999","unstructured":"Kakiuchi T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N . A novel truncating mutation of cytochrome P4501Bl (CYP1B1) gene in primary infantile glaucoma. Am J Ophthalmol 1999;128:370\u20132","journal-title":"Am J Ophthalmol"},{"key":"BFeye2000126_CR31","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1093\/hmg\/9.3.367","volume":"9","author":"BA Bejjani","year":"2000","unstructured":"Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, et al . 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\u201374","journal-title":"Hum Mol Genet"},{"key":"BFeye2000126_CR32","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1210\/mend-5-9-1203","volume":"5","author":"DW Nebert","year":"1991","unstructured":"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\u201314","journal-title":"Mol Endocrinol"},{"key":"BFeye2000126_CR33","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/00008571-199602000-00002","volume":"6","author":"DR Nelson","year":"1996","unstructured":"Nelson DR, Koymans L, Kamataki T, Stegeman JJ, Feyereisen R, Waxman DJ, et al . P450 superfamily: update on new sequences, gene mapping, accession numbers and nomenclature. Pharmacogenetics 1996;6:1\u201342","journal-title":"Pharmacogenetics"},{"key":"BFeye2000126_CR34","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/S0076-6879(96)72037-2","volume":"272","author":"SE Graham-Lorence","year":"1996","unstructured":"Graham-Lorence SE, Peterson JA . Structural alignments of P450s and extrapolation of the unknown. Methods Enzymol 1996;272:315\u201326","journal-title":"Methods Enzymol"},{"key":"BFeye2000126_CR35","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1093\/oxfordjournals.jbchem.a124232","volume":"114","author":"S Yamazaki","year":"1993","unstructured":"Yamazaki S, Sato K, Suhara K, Sakaguchi M, Michara 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\u20137","journal-title":"J Biochem"},{"key":"BFeye2000126_CR36","doi-asserted-by":"publisher","first-page":"28607","DOI":"10.1074\/jbc.271.45.28607","volume":"271","author":"CD Chen","year":"1996","unstructured":"Chen CD, Kemper B . Different structural requirements at specific proline rich residue positions in the conserved proline-rich region of cytochrome P4502C2. J Biol Chern 1996;271:28607\u201311","journal-title":"J Biol Chern"},{"key":"BFeye2000126_CR37","first-page":"977","volume":"93","author":"CL Hayes","year":"1997","unstructured":"Hayes CL, Spink DC, Spink BC, Cao JQ, Walker NJ, Sutter TR . 17J3-Estradiol hydroxylation catalyzed by cytochrome CYPIBl. Proc Natl Acad Sci USA 1997;93:977\u20131111.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye2000126_CR38","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0090-9556(24)15367-6","volume":"28","author":"H Chen","year":"2000","unstructured":"Chen H, Howald WN, Juchau MR . Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human p-450 cytochromes. Drug Metab Disp 2000;28:315\u201322","journal-title":"Drug Metab Disp"},{"key":"BFeye2000126_CR39","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/S0300-483X(99)00209-7","volume":"144","author":"I Jansson","year":"2000","unstructured":"Jansson I, Stoilov I, Sarfarazi M, Schenkmann JB . Enhanced expression of CYP1B1 in E. coli. Toxicology 2000;144:211\u20139","journal-title":"Toxicology"},{"key":"BFeye2000126_CR40","doi-asserted-by":"publisher","first-page":"1977","DOI":"10.1073\/pnas.96.5.1977","volume":"96","author":"JT Buters","year":"1999","unstructured":"Buters JT, Sakai S, Richter T, Pineau T, Alexander DL, Savas U, et al . Cytochrome-450 CYP1B1 determines susceptibility to 7,12-dimethylbenz[a]anthracene-induced lymphomas. Proc Natl Acad Sci USA 1999;96:1977\u201382","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye2000126_CR41","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/0002-9394(61)90013-7","volume":"52","author":"JW Rohen","year":"1961","unstructured":"Rohen JW . The histologic structure of the chamber angle in primates. Am J Ophthalmol 1961;52:529.","journal-title":"Am J Ophthalmol"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye2000126.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye2000126","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye2000126.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T23:49:21Z","timestamp":1741304961000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye2000126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,5]]},"references-count":41,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2000,5]]}},"alternative-id":["BFeye2000126"],"URL":"https:\/\/doi.org\/10.1038\/eye.2000.126","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,5]]}}}