{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:49:37Z","timestamp":1772520577948,"version":"3.50.1"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006209","name":"Radboud University Medical Center","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006209","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Neurobiol"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1007\/s12035-017-0403-z","type":"journal-article","created":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T03:39:10Z","timestamp":1485920350000},"page":"1387-1395","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family"],"prefix":"10.1007","volume":"55","author":[{"given":"Shazia","family":"Micheal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole T.M.","family":"Saksens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barend F.","family":"Hogewind","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Imran","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carel B.","family":"Hoyng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anneke I.","family":"den Hollander","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,1]]},"reference":[{"issue":"3","key":"403_CR1","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1136\/bjo.2005.081224","volume":"90","author":"HA Quigley","year":"2006","unstructured":"Quigley HA, Broman AT (2006) The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 90(3):262\u2013267. doi:\n10.1136\/bjo.2005.081224","journal-title":"Br J Ophthalmol"},{"issue":"8","key":"403_CR2","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1136\/bjo.76.8.494","volume":"76","author":"RA Hitchings","year":"1992","unstructured":"Hitchings RA (1992) Low tension glaucoma\u2014its place in modern glaucoma practice. Br J Ophthalmol 76(8):494\u2013496","journal-title":"Br J Ophthalmol"},{"issue":"3","key":"403_CR3","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1097\/00004397-199403430-00016","volume":"34","author":"C Grosskreutz","year":"1994","unstructured":"Grosskreutz C, Netland PA (1994) Low-tension glaucoma. Int Ophthalmol Clin 34(3):173\u2013185","journal-title":"Int Ophthalmol Clin"},{"issue":"6","key":"403_CR4","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1001\/archopht.120.6.701","volume":"120","author":"MA Kass","year":"2002","unstructured":"Kass MA, Heuer DK, Higginbotham EJ, Johnson CA, Keltner JL, Miller JP, Parrish RK 2nd, Wilson MR et al (2002) The Ocular Hypertension Treatment Study: a randomized trial determines that topical ocular hypotensive medication delays or prevents the onset of primary open-angle glaucoma. Arch Ophthalmol 120(6):701\u2013713 discussion 829-730","journal-title":"Arch Ophthalmol"},{"issue":"1","key":"403_CR5","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1038\/ng0593-47","volume":"4","author":"VC Sheffield","year":"1993","unstructured":"Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 4(1):47\u201350. doi:\n10.1038\/ng0593-47","journal-title":"Nat Genet"},{"issue":"5300","key":"403_CR6","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1126\/science.275.5300.668","volume":"275","author":"EM Stone","year":"1997","unstructured":"Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF et al (1997) Identification of a gene that causes primary open angle glaucoma. Science 275(5300):668\u2013670","journal-title":"Science"},{"issue":"5557","key":"403_CR7","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1126\/science.1066901","volume":"295","author":"T Rezaie","year":"2002","unstructured":"Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T et al (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295(5557):1077\u20131079. doi:\n10.1126\/science.1066901","journal-title":"Science"},{"issue":"3","key":"403_CR8","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1086\/301767","volume":"62","author":"M Sarfarazi","year":"1998","unstructured":"Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, Poinoosawmy D, Crick RP (1998) Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 62(3):641\u2013652. doi:\n10.1086\/301767","journal-title":"Am J Hum Genet"},{"issue":"2","key":"403_CR9","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1001\/archopht.117.2.237","volume":"117","author":"MK Wirtz","year":"1999","unstructured":"Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, Acott TS, Kramer PL (1999) GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol 117(2):237\u2013241","journal-title":"Arch Ophthalmol"},{"issue":"6","key":"403_CR10","doi-asserted-by":"publisher","first-page":"1336","DOI":"10.1093\/hmg\/ddr572","volume":"21","author":"F Pasutto","year":"2012","unstructured":"Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlotzer-Schrehardt U et al (2012) Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 21(6):1336\u20131349. doi:\n10.1093\/hmg\/ddr572","journal-title":"Hum Mol Genet"},{"issue":"6","key":"403_CR11","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1093\/hmg\/ddi068","volume":"14","author":"S Monemi","year":"2005","unstructured":"Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E et al (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 14(6):725\u2013733. doi:\n10.1093\/hmg\/ddi068","journal-title":"Hum Mol Genet"},{"issue":"1","key":"403_CR12","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1001\/archopht.125.1.86","volume":"125","author":"SP Suriyapperuma","year":"2007","unstructured":"Suriyapperuma SP, Child A, Desai T, Brice G, Kerr A, Crick RP, Sarfarazi M (2007) A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region. Arch Ophthalmol 125(1):86\u201392. doi:\n10.1001\/archopht.125.1.86","journal-title":"Arch Ophthalmol"},{"issue":"7","key":"403_CR13","doi-asserted-by":"publisher","first-page":"e0132529","DOI":"10.1371\/journal.pone.0132529","volume":"10","author":"DS Mackay","year":"2015","unstructured":"Mackay DS, Bennett TM, Shiels A (2015) Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma. PLoS One 10(7):e0132529. doi:\n10.1371\/journal.pone.0132529","journal-title":"PLoS One"},{"issue":"2","key":"403_CR14","doi-asserted-by":"crossref","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, Chevrette L, Sayli BS (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30(2):171\u2013177","journal-title":"Genomics"},{"issue":"4","key":"403_CR15","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/hmg\/6.4.641","volume":"6","author":"I Stoilov","year":"1997","unstructured":"Stoilov I, Akarsu AN, Sarfarazi M (1997) 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 6(4):641\u2013647","journal-title":"Hum Mol Genet"},{"issue":"2","key":"403_CR16","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1086\/338709","volume":"70","author":"AL Vincent","year":"2002","unstructured":"Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Heon E (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 70(2):448\u2013460. doi:\n10.1086\/338709","journal-title":"Am J Hum Genet"},{"issue":"9","key":"403_CR17","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1136\/jmg.2004.020024","volume":"41","author":"R Melki","year":"2004","unstructured":"Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 41(9):647\u2013651. doi:\n10.1136\/jmg.2004.020024","journal-title":"J Med Genet"},{"issue":"23","key":"403_CR18","doi-asserted-by":"publisher","first-page":"4707","DOI":"10.1093\/hmg\/ddr382","volume":"20","author":"JL Wiggs","year":"2011","unstructured":"Wiggs JL, Kang JH, Yaspan BL, Mirel DB, Laurie C, Crenshaw A, Brodeur W, Gogarten S et al (2011) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet 20(23):4707\u20134713. doi:\n10.1093\/hmg\/ddr382","journal-title":"Hum Mol Genet"},{"issue":"6","key":"403_CR19","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1038\/ng.824","volume":"43","author":"KP Burdon","year":"2011","unstructured":"Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, Mills RA, Danoy P, Casson R et al (2011) Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet 43(6):574\u2013578. doi:\n10.1038\/ng.824","journal-title":"Nat Genet"},{"issue":"2","key":"403_CR20","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1016\/j.ajo.2012.07.023","volume":"155","author":"LR Pasquale","year":"2013","unstructured":"Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, Chen TC, Delbono E et al (2013) CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol 155(2):342\u2013353. doi:\n10.1016\/j.ajo.2012.07.023","journal-title":"Am J Ophthalmol"},{"issue":"13","key":"403_CR21","doi-asserted-by":"publisher","first-page":"3880","DOI":"10.1093\/hmg\/ddv128","volume":"24","author":"Z Li","year":"2015","unstructured":"Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ et al (2015) A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet 24(13):3880\u20133892. doi:\n10.1093\/hmg\/ddv128","journal-title":"Hum Mol Genet"},{"issue":"4","key":"403_CR22","doi-asserted-by":"publisher","first-page":"e1002654","DOI":"10.1371\/journal.pgen.1002654","volume":"8","author":"JL Wiggs","year":"2012","unstructured":"Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, Abdrabou W, Fan BJ et al (2012) Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet 8(4):e1002654. doi:\n10.1371\/journal.pgen.1002654","journal-title":"PLoS Genet"},{"issue":"2","key":"403_CR23","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1038\/ng.3482","volume":"48","author":"JN Bailey","year":"2016","unstructured":"Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H et al (2016) Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet 48(2):189\u2013194. doi:\n10.1038\/ng.3482","journal-title":"Nat Genet"},{"key":"403_CR24","unstructured":"Hodapp E PRI, Anderson DR. (1993) Clinical decisions in glaucoma. The CV Mosby Co;, St Louis"},{"issue":"4","key":"403_CR25","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1097\/00061198-199508000-00005","volume":"4","author":"FS Mikelberg","year":"1995","unstructured":"Mikelberg FS, Parfitt CM, Swindale NV, Graham SL, Drance SM, Gosine R (1995) Ability of the Heidelberg Retina Tomograph to detect early glaucomatous visual field loss. J Glaucoma 4(4):242\u2013247","journal-title":"J Glaucoma"},{"issue":"8","key":"403_CR26","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1016\/S0161-6420(98)98047-2","volume":"105","author":"G Wollstein","year":"1998","unstructured":"Wollstein G, Garway-Heath DF, Hitchings RA (1998) Identification of early glaucoma cases with the scanning laser ophthalmoscope. Ophthalmology 105(8):1557\u20131563. doi:\n10.1016\/S0161-6420(98)98047-2","journal-title":"Ophthalmology"},{"issue":"4","key":"403_CR27","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S1097-2765(01)00367-7","volume":"8","author":"Y Samuels-Lev","year":"2001","unstructured":"Samuels-Lev Y, O\u2019Connor DJ, Bergamaschi D, Trigiante G, Hsieh JK, Zhong S, Campargue I, Naumovski L et al (2001) ASPP proteins specifically stimulate the apoptotic function of p53. Mol Cell 8(4):781\u2013794","journal-title":"Mol Cell"},{"issue":"3","key":"403_CR28","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1128\/MCB.24.3.1341-1350.2004","volume":"24","author":"D Bergamaschi","year":"2004","unstructured":"Bergamaschi D, Samuels Y, Jin B, Duraisingham S, Crook T, Lu X (2004) ASPP1 and ASPP2: common activators of p53 family members. Mol Cell Biol 24(3):1341\u20131350","journal-title":"Mol Cell Biol"},{"issue":"6","key":"403_CR29","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1089\/ars.2010.3610","volume":"15","author":"W Chatoo","year":"2011","unstructured":"Chatoo W, Abdouh M, Bernier G (2011) p53 pro-oxidant activity in the central nervous system: implication in aging and neurodegenerative diseases. Antioxid Redox Signal 15(6):1729\u20131737. doi:\n10.1089\/ars.2010.3610","journal-title":"Antioxid Redox Signal"},{"issue":"3","key":"403_CR30","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1016\/j.bbrc.2005.03.149","volume":"331","author":"C Culmsee","year":"2005","unstructured":"Culmsee C, Mattson MP (2005) p53 in neuronal apoptosis. Biochem Biophys Res Commun 331(3):761\u2013777. doi:\n10.1016\/j.bbrc.2005.03.149","journal-title":"Biochem Biophys Res Commun"},{"key":"403_CR31","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0039-6257(99)00029-6","volume":"43","author":"RW Nickells","year":"1999","unstructured":"Nickells RW (1999) Apoptosis of retinal ganglion cells in glaucoma: an update of the molecular pathways involved in cell death. Surv Ophthalmol 43:151\u2013161","journal-title":"Surv Ophthalmol"},{"issue":"4","key":"403_CR32","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1016\/S1097-2765(01)00367-7","volume":"8","author":"Y Samuels-Lev","year":"2001","unstructured":"Samuels-Lev Y, O\u2019Connor DJ, Bergamaschi D, Trigiante G, Hsieh JK, Zhong S, Campargue I, Naumovski L et al (2001) ASPP proteins specifically stimulate the apoptotic function of p53. Mol Cell 8(4):781\u2013794. doi:\n10.1016\/S1097-2765(01)00367-7","journal-title":"Mol Cell"},{"issue":"5","key":"403_CR33","doi-asserted-by":"publisher","first-page":"2205","DOI":"10.1523\/JNEUROSCI.2635-12.2013","volume":"33","author":"AM Wilson","year":"2013","unstructured":"Wilson AM, Morquette B, Abdouh M, Unsain N, Barker PA, Feinstein E, Bernier G, Di Polo A (2013) ASPP1\/2 regulate p53-dependent death of retinal ganglion cells through PUMA and Fas\/CD95 activation in vivo. The Journal of neuroscience : the official journal of the Society for Neuroscience 33(5):2205\u20132216. doi:\n10.1523\/JNEUROSCI.2635-12.2013","journal-title":"The Journal of neuroscience : the official journal of the Society for Neuroscience"},{"issue":"4","key":"403_CR34","doi-asserted-by":"publisher","first-page":"e94175","DOI":"10.1371\/journal.pone.0094175","volume":"9","author":"AM Wilson","year":"2014","unstructured":"Wilson AM, Chiodo VA, Boye SL, Brecha NC, Hauswirth WW, Di Polo A (2014) Inhibitor of apoptosis-stimulating protein of p53 (iASPP) is required for neuronal survival after axonal injury. PLoS One 9(4):e94175. doi:\n10.1371\/journal.pone.0094175","journal-title":"PLoS One"},{"key":"403_CR35","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/7920631","author":"XL Chen","year":"2016","unstructured":"Chen XL, Bai YJ, Hu QR, Li SS, Huang LZ, Li XX (2016) Small interfering RNA targeted to ASPP2 promotes progression of experimental proliferative vitreoretinopathy. Mediat Inflamm. doi:\n10.1155\/2016\/7920631","journal-title":"Mediat Inflamm"},{"issue":"5","key":"403_CR36","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1007\/s00417-014-2588-4","volume":"252","author":"H Levkovitch-Verbin","year":"2014","unstructured":"Levkovitch-Verbin H, Waserzoog Y, Vander S, Makarovsky D, Piven I (2014) Minocycline upregulates pro-survival genes and downregulates pro-apoptotic genes in experimental glaucoma. Graefe\u2019s archive for clinical and experimental ophthalmology Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 252(5):761\u2013772. doi:\n10.1007\/s00417-014-2588-4","journal-title":"Graefe\u2019s archive for clinical and experimental ophthalmology Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie"},{"issue":"4","key":"403_CR37","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1001\/archopht.124.4.520","volume":"124","author":"H Levkovitch-Verbin","year":"2006","unstructured":"Levkovitch-Verbin H, Kalev-Landoy M, Habot-Wilner Z, Melamed S (2006) Minocycline delays death of retinal ganglion cells in experimental glaucoma and after optic nerve transection. Arch Ophthalmol 124(4):520\u2013526. doi:\n10.1001\/archopht.124.4.520","journal-title":"Arch Ophthalmol"}],"container-title":["Molecular Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12035-017-0403-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-017-0403-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-017-0403-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,2,19]],"date-time":"2018-02-19T22:50:03Z","timestamp":1519080603000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12035-017-0403-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,1]]},"references-count":37,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["403"],"URL":"https:\/\/doi.org\/10.1007\/s12035-017-0403-z","relation":{},"ISSN":["0893-7648","1559-1182"],"issn-type":[{"value":"0893-7648","type":"print"},{"value":"1559-1182","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,1]]}}}