{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T17:43:35Z","timestamp":1750700615851,"version":"3.37.3"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["F.No. 54\/7\/2015-BMS"],"award-info":[{"award-number":["F.No. 54\/7\/2015-BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1007\/s00438-023-02053-x","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T05:01:31Z","timestamp":1689570091000},"page":"1279-1288","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mutation screening in autosomal dominant congenital cataract families from North India"],"prefix":"10.1007","volume":"298","author":[{"given":"Shiwali","family":"Goyal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravijit","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jai Rup","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2251-6641","authenticated-orcid":false,"given":"Vanita","family":"Vanita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,7,17]]},"reference":[{"issue":"2","key":"2053_CR1","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1093\/clinchem\/36.2.261","volume":"36","author":"K Adeli","year":"1990","unstructured":"Adeli K, Ogbonna G (1990) Rapid purification of human DNA from whole blood for potential application in clinical chemistry laboratories. Clin Chem 36(2):261\u2013264","journal-title":"Clin Chem"},{"issue":"1","key":"2053_CR2","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.preteyeres.2006.10.003","volume":"26","author":"UP Andley","year":"2007","unstructured":"Andley UP (2007) Crystallins in the eye: function and pathology. Prog Retin Eye Res 26(1):78\u201398. https:\/\/doi.org\/10.1016\/j.preteyeres.2006.10.003","journal-title":"Prog Retin Eye Res"},{"issue":"Pt 3","key":"2053_CR3","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1242\/jcs.034124","volume":"122","author":"EA Banks","year":"2009","unstructured":"Banks EA, Toloue MM et al (2009) Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner. J Cell Sci 122(Pt 3):378\u2013388. https:\/\/doi.org\/10.1242\/jcs.034124","journal-title":"J Cell Sci"},{"issue":"2","key":"2053_CR4","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/0002-9394(86)90599-4","volume":"101","author":"JB Bateman","year":"1986","unstructured":"Bateman JB, Spence MA et al (1986) Genetic linkage analysis of autosomal dominant congenital cataracts. Am J Ophthalmol 101(2):218\u2013225. https:\/\/doi.org\/10.1016\/0002-9394(86)90599-4","journal-title":"Am J Ophthalmol"},{"issue":"3","key":"2053_CR5","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1016\/j.ophtha.2006.09.013","volume":"114","author":"JB Bateman","year":"2007","unstructured":"Bateman JB, von-Bischhoffshaunsen FRB et al (2007) Gene conversion mutation in crystallin, \u03b2-B2 (CRYBB2) in a Chilean Family with autosomal dominant cataract. Ophthalmol 114(3):425\u2013432. https:\/\/doi.org\/10.1016\/j.ophtha.2006.09.013","journal-title":"Ophthalmology"},{"issue":"5","key":"2053_CR6","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1016\/0014-4835(92)90036-r","volume":"54","author":"RH Brakenhoff","year":"1992","unstructured":"Brakenhoff RH, Aarts HJ et al (1992) The second human beta B2-crystallin gene is a pseudogene. Exp Eye Res 54(5):803\u2013806. https:\/\/doi.org\/10.1016\/0014-4835(92)90036-r","journal-title":"Exp Eye Res"},{"issue":"2","key":"2053_CR7","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/0167-4838(94)90009-4","volume":"1204","author":"JA Carver","year":"1994","unstructured":"Carver JA, Aquilina JA et al (1994) Alpha-crystallin: molecular chaperone and protein surfactant. Biochim Biophys Acta 1204(2):195\u2013206. https:\/\/doi.org\/10.1016\/0167-4838(94)90009-4","journal-title":"Biochim Biophys Acta"},{"issue":"10","key":"2053_CR8","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1080\/17460441.2020.1773787","volume":"15","author":"A Caufriez","year":"2020","unstructured":"Caufriez A, Bock D et al (2020) Peptide-based targeting of connexins and pannexins for therapeutic purposes. Expert Opin Drug Discov 15(10):1213\u20131222. https:\/\/doi.org\/10.1080\/17460441.2020.1773787","journal-title":"Expert Opin Drug Discov"},{"key":"2053_CR9","doi-asserted-by":"publisher","unstructured":"Chen C, Sun Q et al (2015) A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing. Graefe\u2019s Arch Clin Exp Ophthalmol 253(6):915\u2013924. https:\/\/doi.org\/10.1007\/s00417-015-3019-x","DOI":"10.1007\/s00417-015-3019-x"},{"issue":"4","key":"2053_CR10","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/0097-8485(95)00028-Q","volume":"19","author":"MJ Crabbe","year":"1995","unstructured":"Crabbe MJ, Goode D (1995) Protein folds and functional similarity; the Greek key\/immunoglobulin fold. Comput Chem 19(4):343\u2013349","journal-title":"Comput Chem"},{"issue":"22","key":"2053_CR11","doi-asserted-by":"publisher","first-page":"8331","DOI":"10.1523\/jneurosci.20-22-08331.2000","volume":"20","author":"R Dermietzel","year":"2000","unstructured":"Dermietzel R, Kremer M et al (2000) Molecular and functional diversity of neural connexins in the retina. J Neurosci 20(22):8331\u20138343. https:\/\/doi.org\/10.1523\/jneurosci.20-22-08331.2000","journal-title":"J Neurosci"},{"issue":"7","key":"2053_CR12","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1136\/jmg.37.7.481","volume":"37","author":"PJ Francis","year":"2000","unstructured":"Francis PJ, Berry V et al (2000) The genetics of childhood cataract. J Med Genet 37(7):481\u2013488. https:\/\/doi.org\/10.1136\/jmg.37.7.481","journal-title":"J Med Genet"},{"key":"2053_CR13","doi-asserted-by":"publisher","first-page":"4121","DOI":"10.1038\/srep04121","volume":"4","author":"XL Ge","year":"2014","unstructured":"Ge XL, Zhang Y et al (2014) Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts. Sci Rep 4:4121. https:\/\/doi.org\/10.1038\/srep04121","journal-title":"Sci Rep"},{"issue":"17","key":"2053_CR14","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1016\/s0960-9822(01)00424-9","volume":"11","author":"BN Giepmans","year":"2001","unstructured":"Giepmans BN, Verlaan I et al (2001) Gap junction protein connexin-43 interacts directly with microtubules. Curr Biol 11(17):1364\u20131368. https:\/\/doi.org\/10.1016\/s0960-9822(01)00424-9","journal-title":"Curr Biol"},{"key":"2053_CR15","unstructured":"Gill D, Klose R et al (2000) Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci 41(1):159\u2013165"},{"key":"2053_CR16","doi-asserted-by":"publisher","unstructured":"Goodenough DA (1992) The crystalline lens. A system networked by gap junctional intercellular communication. Semin Cell Biol 3(1):49\u201358. https:\/\/doi.org\/10.1016\/s1043-4682(10)80007-8","DOI":"10.1016\/s1043-4682(10)80007-8"},{"issue":"2 Pt 2","key":"2053_CR17","first-page":"227","volume":"11","author":"M Gra\u0142ek","year":"2007","unstructured":"Gra\u0142ek M, Kanigowska K et al (2007) Cataract in children\u2013not only an ophthalmological problem. Med Wieku Rozwoj 11(2 Pt 2):227\u2013230","journal-title":"Med Wieku Rozwoj"},{"issue":"33","key":"2053_CR18","doi-asserted-by":"publisher","first-page":"9964","DOI":"10.1021\/bi060499v","volume":"45","author":"R Gupta","year":"2006","unstructured":"Gupta R, Srivastava K et al (2006) Truncation of motifs III and IV in human lens betaA3-crystallin destabilizes the structure. Biochemistry 45(33):9964\u20139978. https:\/\/doi.org\/10.1021\/bi060499v","journal-title":"Biochemistry"},{"key":"2053_CR19","doi-asserted-by":"publisher","unstructured":"Haargaard B, Wohlfahrt J et al (2004) Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children. Invest Ophthalmol Vis Sci 45(5):1316\u20131320. https:\/\/doi.org\/10.1167\/iovs.03-0635","DOI":"10.1167\/iovs.03-0635"},{"issue":"7","key":"2053_CR20","doi-asserted-by":"publisher","first-page":"3291","DOI":"10.1167\/iovs.08-3149","volume":"50","author":"L Hansen","year":"2009","unstructured":"Hansen L, Mikkelsen A et al (2009) Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol vis Sci 50(7):3291\u20133303. https:\/\/doi.org\/10.1167\/iovs.08-3149","journal-title":"Invest Ophthalmol vis Sci"},{"issue":"11","key":"2053_CR21","doi-asserted-by":"publisher","first-page":"2542","DOI":"10.1002\/jcb.24603","volume":"114","author":"C Hebert","year":"2013","unstructured":"Hebert C, Stains JP (2013) An intact connexin43 is required to enhance signaling and gene expression in osteoblast-like cells. J Cell Biochem 114(11):2542\u20132550. https:\/\/doi.org\/10.1002\/jcb.24603","journal-title":"J Cell Biochem"},{"issue":"2","key":"2053_CR22","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.semcdb.2007.10.003","volume":"19","author":"JF Hejtmancik","year":"2008","unstructured":"Hejtmancik JF (2008) Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 19(2):134\u2013149. https:\/\/doi.org\/10.1016\/j.semcdb.2007.10.003","journal-title":"Semin Cell Dev Biol"},{"issue":"6","key":"2053_CR23","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.ejmg.2010.07.001","volume":"53","author":"B Huang","year":"2010","unstructured":"Huang B, He W (2010) Molecular characteristics of inherited congenital cataracts. Eur J Med Genet 53(6):347\u2013357. https:\/\/doi.org\/10.1016\/j.ejmg.2010.07.001","journal-title":"Eur J Med Genet"},{"issue":"5906","key":"2053_CR24","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/302310a0","volume":"302","author":"G Inana","year":"1983","unstructured":"Inana G, Piatigorsky J et al (1983) Gene and protein structure of a beta-crystallin polypeptide in murine lens: relationship of exons and structural motifs. Nature 302(5906):310\u2013315. https:\/\/doi.org\/10.1038\/302310a0","journal-title":"Nature"},{"issue":"7","key":"2053_CR25","doi-asserted-by":"publisher","first-page":"2623","DOI":"10.4103\/ijo.IJO_124_22","volume":"70","author":"S Kaur","year":"2022","unstructured":"Kaur S, Sukhija J et al (2022) Commentary: genetic testing in cases of pediatric cataract. Indian J Ophthalmol 70(7):2623\u20132624. https:\/\/doi.org\/10.4103\/ijo.IJO_124_22","journal-title":"Indian J Ophthalmol"},{"key":"2053_CR26","doi-asserted-by":"publisher","unstructured":"Kumaraswamy VS, Lindley PF et al (1996) An eye lens protein-water structure: 1.2 A resolution structure of gammaB-crystallin at 150 K. Acta Crystallogr D Biol Crystallogr 52(Pt 4):611\u2013622. https:\/\/doi.org\/10.1107\/S0907444995014302","DOI":"10.1107\/S0907444995014302"},{"issue":"5","key":"2053_CR27","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1093\/hmg\/6.5.665","volume":"6","author":"M Litt","year":"1997","unstructured":"Litt M, Carrero-Valenzuela R et al (1997) Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 6(5):665\u2013668. https:\/\/doi.org\/10.1093\/hmg\/6.5.665","journal-title":"Hum Mol Genet"},{"key":"2053_CR28","first-page":"321","volume":"11","author":"BF Liu","year":"2005","unstructured":"Liu BF, Liang JJ (2005) Interaction and biophysical properties of human lens Q155* betaB2-crystallin mutant. Mol vis 11:321\u2013327","journal-title":"Mol vis"},{"issue":"10094","key":"2053_CR29","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1016\/S0140-6736(17)30544-5","volume":"390","author":"YC Liu","year":"2017","unstructured":"Liu YC, Wilkins M et al (2017) Cataracts. Lancet 390(10094):600\u2013612. https:\/\/doi.org\/10.1016\/S0140-6736(17)30544-5","journal-title":"Lancet"},{"issue":"6","key":"2053_CR30","doi-asserted-by":"publisher","first-page":"481","DOI":"10.4103\/0301-4738.42642","volume":"56","author":"G Murthy","year":"2008","unstructured":"Murthy G, John N et al (2008) Status of pediatric eye care in India. Indian J Ophthalmol 56(6):481\u2013488. https:\/\/doi.org\/10.4103\/0301-4738.42642","journal-title":"Indian J Ophthalmol"},{"issue":"2","key":"2053_CR31","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/bf01868674","volume":"116","author":"LS Musil","year":"1990","unstructured":"Musil LS, Beyer EC et al (1990) Expression of the gap junction protein connexin43 in embryonic chick lens: molecular cloning, ultrastructural localization, and post-translational phosphorylation. J Membr Biol 116(2):163\u2013175. https:\/\/doi.org\/10.1007\/bf01868674","journal-title":"J Membr Biol"},{"issue":"4","key":"2053_CR32","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1083\/jcb.115.4.1077","volume":"115","author":"DL Paul","year":"1991","unstructured":"Paul DL, Ebihara L et al (1991) Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. J Cell Biol 115(4):1077\u20131089. https:\/\/doi.org\/10.1083\/jcb.115.4.1077","journal-title":"J Cell Biol"},{"issue":"1","key":"2053_CR33","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1111\/j.1365-2362.2010.02378.x","volume":"41","author":"A Pfenniger","year":"2011","unstructured":"Pfenniger A, Wohlwend A et al (2011) Mutations in connexin genes and disease. Eur J Clin Invest 41(1):103\u2013116. https:\/\/doi.org\/10.1111\/j.1365-2362.2010.02378.x","journal-title":"Eur J Clin Invest"},{"issue":"3","key":"2053_CR34","doi-asserted-by":"publisher","first-page":"C212","DOI":"10.1152\/ajpcell.00098.2013","volume":"306","author":"C Rubinos","year":"2014","unstructured":"Rubinos C, Villone K et al (2014) Functional effects of Cx50 mutations associated with congenital cataracts. Am J Physiol Cell Physiol 306(3):C212-220. https:\/\/doi.org\/10.1152\/ajpcell.00098.2013","journal-title":"Am J Physiol Cell Physiol"},{"issue":"4","key":"2053_CR35","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1152\/physrev.00007.2003","volume":"83","author":"JC Saez","year":"2003","unstructured":"Saez JC, Berthoud VM et al (2003) Plasma membrane channels formed by connexins: their regulation and functions. Physiol Rev 83(4):1359\u20131400. https:\/\/doi.org\/10.1152\/physrev.00007.2003","journal-title":"Physiol Rev"},{"key":"2053_CR36","first-page":"2007","volume":"16","author":"A Shiels","year":"2010","unstructured":"Shiels A, Bennett TM et al (2010) Cat-Map: putting cataract on the map. Mol vis 16:2007\u20132015","journal-title":"Mol vis"},{"issue":"9","key":"2053_CR37","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1136\/archdischild-2016-310532","volume":"102","author":"AL Solebo","year":"2017","unstructured":"Solebo AL, Teoh L et al (2017) Epidemiology of blindness in children. Arch Dis Child 102(9):853\u2013857. https:\/\/doi.org\/10.1136\/archdischild-2016-310532","journal-title":"Arch Dis Child"},{"issue":"2","key":"2053_CR38","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.bbamem.2005.04.001","volume":"1711","author":"GE Sosinsky","year":"2005","unstructured":"Sosinsky GE, Nicholson BJ (2005) Structural organization of gap junction channels. Biochim Biophys Acta 1711(2):99\u2013125. https:\/\/doi.org\/10.1016\/j.bbamem.2005.04.001","journal-title":"Biochim Biophys Acta"},{"issue":"30","key":"2053_CR39","doi-asserted-by":"publisher","first-page":"7179","DOI":"10.1021\/bi900313c","volume":"48","author":"K Srivastava","year":"2009","unstructured":"Srivastava K, Gupta R et al (2009) Truncated human betaB1-crystallin shows altered structural properties and interaction with human betaA3-crystallin. Biochemistry 48(30):7179\u20137189. https:\/\/doi.org\/10.1021\/bi900313c","journal-title":"Biochemistry"},{"key":"2053_CR40","first-page":"1508","volume":"17","author":"W Sun","year":"2011","unstructured":"Sun W, Xiao X et al (2011) Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. Mol vis 17:1508\u20131513","journal-title":"Mol vis"},{"issue":"6","key":"2053_CR41","doi-asserted-by":"publisher","first-page":"2549","DOI":"10.1167\/iovs.07-1658","volume":"49","author":"BC Thomas","year":"2008","unstructured":"Thomas BC, Minogue PJ et al (2008) Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50. Invest Ophthalmol vis Sci 49(6):2549\u20132556. https:\/\/doi.org\/10.1167\/iovs.07-1658","journal-title":"Invest Ophthalmol vis Sci"},{"issue":"5","key":"2053_CR42","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1034\/j.1399-0004.1999.560507.x","volume":"56","author":"SJR Vanita","year":"1999","unstructured":"Vanita SJR et al (1999) Genetic and segregation analysis of congenital cataract in the Indian population. Clin Genet 56(5):389\u2013393. https:\/\/doi.org\/10.1034\/j.1399-0004.1999.560507.x","journal-title":"Clin Genet"},{"issue":"6","key":"2053_CR43","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1136\/jmg.38.6.392","volume":"38","author":"SV Vanita","year":"2001","unstructured":"Vanita SV et al (2001) A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet 38(6):392\u2013396. https:\/\/doi.org\/10.1136\/jmg.38.6.392","journal-title":"J Med Genet"},{"issue":"3","key":"2053_CR44","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1080\/13816810.2018.1436184","volume":"39","author":"NG Vidya","year":"2018","unstructured":"Vidya NG, Rajkumar S et al (2018) Genetic investigation of ocular developmental genes in 52 patients with anophthalmia\/microphthalmia. Ophthalmic Genet 39(3):344\u2013352. https:\/\/doi.org\/10.1080\/13816810.2018.1436184","journal-title":"Ophthalmic Genet"},{"issue":"W1","key":"2053_CR45","doi-asserted-by":"publisher","first-page":"W296","DOI":"10.1093\/nar\/gky427","volume":"46","author":"A Waterhouse","year":"2018","unstructured":"Waterhouse A, Bertoni M et al (2018) SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res 46(W1):W296\u2013W303. https:\/\/doi.org\/10.1093\/nar\/gky427","journal-title":"Nucleic Acids Res"},{"issue":"11","key":"2053_CR46","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1093\/protein\/9.11.1021","volume":"9","author":"PJ Werten","year":"1996","unstructured":"Werten PJ, Carver JA et al (1996) The elusive role of the N-terminal extension of beta A3- and beta A1-crystallin. Protein Eng 9(11):1021\u20131028. https:\/\/doi.org\/10.1093\/protein\/9.11.1021","journal-title":"Protein Eng"},{"issue":"1568","key":"2053_CR47","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1098\/rstb.2010.0324","volume":"366","author":"MA Wride","year":"2011","unstructured":"Wride MA (2011) Lens fibre cell differentiation and organelle loss: many paths lead to clarity. Philos Trans R Soc Lond B Biol Sci 366(1568):1219\u20131233. https:\/\/doi.org\/10.1098\/rstb.2010.0324","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"2053_CR48","first-page":"758","volume":"11","author":"K Yao","year":"2005","unstructured":"Yao K, Tang X et al (2005) Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family. Mol vis 11:758\u2013763","journal-title":"Mol vis"},{"issue":"4","key":"2053_CR49","doi-asserted-by":"publisher","first-page":"422","DOI":"10.3980\/j.issn.2222-3959.2011.04.20","volume":"4","author":"J Yi","year":"2011","unstructured":"Yi J, Yun J et al (2011) Epidemiology and molecular genetics of congenital cataracts. Int J Ophthalmol 4(4):422\u2013432. https:\/\/doi.org\/10.3980\/j.issn.2222-3959.2011.04.20","journal-title":"Int J Ophthalmol"},{"issue":"3","key":"2053_CR50","doi-asserted-by":"publisher","first-page":"1614","DOI":"10.3892\/mmr.2014.2324","volume":"10","author":"J Zhang","year":"2014","unstructured":"Zhang J, Zhang Y et al (2014) Congenital cataracts due to a novel 2-bp deletion in CRYBA1\/A3. Mol Med Rep 10(3):1614\u20131618. https:\/\/doi.org\/10.3892\/mmr.2014.2324","journal-title":"Mol Med Rep"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-023-02053-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-023-02053-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-023-02053-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T06:03:39Z","timestamp":1700287419000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-023-02053-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,17]]},"references-count":50,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["2053"],"URL":"https:\/\/doi.org\/10.1007\/s00438-023-02053-x","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"type":"print","value":"1617-4615"},{"type":"electronic","value":"1617-4623"}],"subject":[],"published":{"date-parts":[[2023,7,17]]},"assertion":[{"value":"21 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 July 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The written informed consent was obtained from each participant or their legal custodians (in the case of minors). The present study was approved by the Institutional Ethics Committee (IEC), Guru Nanak Dev University (GNDU), Amritsar, India consistent with the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}