{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:30:02Z","timestamp":1791271802246,"version":"4.1.0"},"reference-count":66,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2014,10,27]],"date-time":"2014-10-27T00:00:00Z","timestamp":1414368000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0110628","type":"journal-article","created":{"date-parts":[[2014,10,27]],"date-time":"2014-10-27T17:57:02Z","timestamp":1414432622000},"page":"e110628","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":23,"title":["Looking the Cow in the Eye: Deletion in the NID1 Gene Is Associated with Recessive Inherited Cataract in Romagnola Cattle"],"prefix":"10.1371","volume":"9","author":[{"given":"Leonardo","family":"Murgiano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Calderoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Joechler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arcangelo","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2014,10,27]]},"reference":[{"key":"ref1","unstructured":"Koenigsberg R (1989) Churchill&apos;s Medical Dictionary. Churchill Livingstone Inc. 308 p."},{"key":"ref2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ejmg.2013.12.006","article-title":"Molecular genetics of congenital nuclear cataract","volume":"57","author":"H Deng","year":"2014","journal-title":"Eur J Med Genet"},{"key":"ref3","first-page":"422","article-title":"Epidemiology and molecular genetics of congenital cataracts","volume":"4","author":"J Yi","year":"2011","journal-title":"Int J Ophthalmol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"6789","DOI":"10.1167\/iovs.13-12644","article-title":"UV-B-induced DNA damage and repair in the mouse lens","volume":"54","author":"R Mesa","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"245","DOI":"10.4103\/0301-4738.49409","article-title":"Etiopathogenesis of cataract: Journal review","volume":"57","author":"R Sinha","year":"2009","journal-title":"Indian J Ophthalmol 2009"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"ORSF54","DOI":"10.1167\/iovs.13-12940","article-title":"Aging and age-related diseases of the ocular lens and vitreous body","volume":"54","author":"JM Petrash","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"ORSF42","DOI":"10.1167\/iovs13-12914","article-title":"Nutrition effects on ocular diseases in the aging eye","volume":"54","author":"EY Chew","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1098\/rstb.2010.0227","article-title":"Clinical and experimental advances in congenital and paediatric cataracts","volume":"366","author":"A Churchill","year":"2011","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.semcdb.2007.10.003","article-title":"Congenital cataracts and their molecular genetics","volume":"19","author":"JF Hejtmancik","year":"2008","journal-title":"Semin Cell Dev Biol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004390051002","article-title":"Congenital cataracts: gene mapping","volume":"106","author":"W He","year":"2000","journal-title":"Hum Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejmg.2010.07.001","article-title":"Molecular characteristics of inherited congenital cataracts","volume":"53","author":"B Huang","year":"2010","journal-title":"Eur J Med Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1110\/ps.04815104","article-title":"Interactions and chaperone function of A-crystallin with T5PgC-crystallin mutant","volume":"13","author":"J Liang","year":"2004","journal-title":"Protein Sci"},{"key":"ref13","first-page":"2007","article-title":"Cat-Map: putting cataract on the map","volume":"16","author":"A Shiels","year":"2010","journal-title":"MolVis"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.exer.2008.08.021","article-title":"Protein-protein interactions involving congenital cataract T5P \u03b3C-crystallin mutant: a confocal fluorescence microscopy study","volume":"87","author":"B Liu","year":"2008","journal-title":"Exp Eye Res"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"5212","DOI":"10.1167\/iovs.06-0427","article-title":"Mutation causing self-aggregation in human \u03b3C-crystallin leading to congenital cataract","volume":"47","author":"V Talla","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref16","first-page":"588","article-title":"Radiation hybrid mapping of cataract genes in the dog","volume":"12","author":"LS Hunter","year":"2006","journal-title":"Mol Vis"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"765","DOI":"10.3109\/02713688409065600","article-title":"Animal models for inherited cataracts: a review","volume":"3","author":"KN Gelatt","year":"1984","journal-title":"Curr Eye Res"},{"key":"ref18","first-page":"373","article-title":"Rodent models of congenital and hereditary cataract in man","volume":"8","author":"BJ Tripathi","year":"1991","journal-title":"Lens Eye Toxic Res"},{"key":"ref19","first-page":"1384","article-title":"The locus for an inherited cataract in sheep maps to ovine chromosome 6","volume":"18","author":"GR Wilson","year":"2012","journal-title":"Mol Vis"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1167\/iovs.12-11088","article-title":"Macrocyclic calpain inhibitor slows the development of inherited cortical cataracts in a sheep model","volume":"54","author":"JD Morton","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1086\/279759","article-title":"The inheritance of congenital cataract in cattle","volume":"54","author":"JA Detlefson","year":"1920","journal-title":"Amer Nat"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1093\/oxfordjournals.jhered.a105263","article-title":"A congenital hereditary eye defect of cattle","volume":"34","author":"PW Gregory","year":"1943","journal-title":"J Hered"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/2046-0481-67-2","article-title":"Congenital cataracts in an Ayrshire herd: a herd case report","volume":"67","author":"L Krump","year":"2014","journal-title":"Ir Vet J"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1024\/0036-7281.151.10.471","article-title":"Prevalence of nuclear cataract in Swiss veal calves and its possible association with mobile telephone antenna base stations","volume":"151","author":"M H\u00e4ssig","year":"2009","journal-title":"Schweiz Archiv Tierheilkd"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2052.2011.02209.x","article-title":"Identification of an FBN1 mutation in bovine Marfan syndrome-like disease","volume":"43","author":"T Hirano","year":"2012","journal-title":"Anim Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"e45634","DOI":"10.1371\/journal.pone.0045634","article-title":"KDM2B is implicated in bovine lethal multi-organic developmental dysplasia","volume":"7","author":"S Testoni","year":"2012","journal-title":"PLoS One"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1186\/1746-6148-8-186","article-title":"Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations","volume":"8","author":"L Murgiano","year":"2012","journal-title":"BMC Vet Res"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/eye.1999.116","article-title":"Lens cytoskeleton and transparency: a model","volume":"13","author":"JI Clark","year":"1999","journal-title":"Eye (Lond)"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"i333","DOI":"10.1093\/bioinformatics\/bts378","article-title":"DELLY: structural variant discovery by integrated paired-end and split-read analysis","volume":"28","author":"T Rausch","year":"2012","journal-title":"Bioinformatics"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1006\/excr.2002.5611","article-title":"Binding of mouse nidogen-2 to basement membrane components and cells and its expression in embryonic and adult tissues suggest complementary functions of the two nidogens","volume":"279","author":"K Salmivirta","year":"2002","journal-title":"Exp Cell Res"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1097\/01.LAB.0000042240.52093.0F","article-title":"Neurologic defects and selective disruption of basement membranes in mice lacking entactin-1\/nidogen-1","volume":"82","author":"L Dong","year":"2002","journal-title":"Lab Invest"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"e16867","DOI":"10.1371\/journal.pone.0016867","article-title":"The expansion of the PRAME gene family in Eutheria","volume":"6","author":"TC Chang","year":"2011","journal-title":"PLoS One"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.tvjl.2012.04.021","article-title":"Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires","volume":"195","author":"L Murgiano","year":"2013","journal-title":"Vet J"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.tvjl.2014.03.020","article-title":"Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle","volume":"200","author":"L Murgiano","year":"2014","journal-title":"Vet J"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1002\/humu.22351","article-title":"Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles","volume":"34","author":"BW Darbro","year":"2013","journal-title":"Hum Mutat"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/nature01873","article-title":"Complex between nidogen and laminin fragments reveals a paradigmatic beta-propeller interface","volume":"424","author":"J Takagi","year":"2003","journal-title":"Nature"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"5209","DOI":"10.1016\/S0021-9258(19)69388-9","article-title":"Entactin, a novel basal lamina-associated sulfated glycoprotein","volume":"256","author":"B Carlin","year":"1981","journal-title":"J Biol Chem"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1111\/j.1432-1033.1983.tb07849.x","article-title":"Nidogen: a new, self-aggregating basement membrane protein","volume":"137","author":"R Timpl","year":"1983","journal-title":"Eur J Biochem"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1006\/excr.1998.4016","article-title":"Entactin-2: a new member of basement membrane protein with high homology to entactin\/nidogen","volume":"241","author":"N Kimura","year":"1998","journal-title":"Exp Cell Res"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/jmbi.1998.2004","article-title":"Nidogen-2: a new basement membrane protein with diverse binding properties","volume":"282","author":"E Kohfeldt","year":"1998","journal-title":"J Mol Biol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.matbio.2003.10.006","article-title":"Basement membrane assembly, stability and activities observed through a developmental lens","volume":"22","author":"PD Yurchenco","year":"2004","journal-title":"Matrix Biol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.2174\/138161209787846766","article-title":"Developmental and pathogenic mechanisms of basement membrane assembly","volume":"15","author":"PD Yurchenco","year":"2009","journal-title":"Curr Pharm Des"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"3137","DOI":"10.1002\/j.1460-2075.1991.tb04875.x","article-title":"Recombinant nidogen consists of three globular domains and mediates binding of laminin to collagen type IV","volume":"10","author":"J Fox","year":"1991","journal-title":"EMBO J"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/ki.1993.3","article-title":"Nidogen mediates the formation of ternary complexes of basement membrane components","volume":"43","author":"M Aumailley","year":"1993","journal-title":"Kidney Int"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"7007","DOI":"10.1128\/MCB.20.18.7007-7012.2000","article-title":"The absence of nidogen-1 does not affect murine basement membrane development","volume":"20","author":"M Murshed","year":"2000","journal-title":"Mol Cell Biol"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"6820","DOI":"10.1128\/MCB.22.19.6820-6830.2002","article-title":"Gene structure and functional analysis of the mouse nidogen-2 gene: nidogen-2 is not essential for basement membrane formation in mice","volume":"22","author":"J Schymeinsky","year":"2002","journal-title":"Mol Cell Biol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S0945-053X(02)00070-7","article-title":"Evidence of nidogen-2 compensation for nidogen-1 deficiency in transgenic mice","volume":"21","author":"N Miosge","year":"2002","journal-title":"Matrix Biol"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1023\/A:1014995523521","article-title":"Nidogen-1 and nidogen-2 are found in basement membranes during human embryonic development","volume":"33","author":"N Miosge","year":"2001","journal-title":"Histochem J"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1111\/j.1432-0436.2006.00100.x","article-title":"Differential expression of entactin-1\/nidogen-1 andentactin-2\/nidogen-2 in myogenic differentiation","volume":"74","author":"R Neu","year":"2006","journal-title":"Differentiation"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"6846","DOI":"10.1128\/MCB.25.15.6846-6856.2005","article-title":"Compound genetic ablation of nidogen 1 and 2 causes basement membrane defects and perinatal lethality in mice","volume":"25","author":"B Bader","year":"2005","journal-title":"Mol Cell Biol"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1002\/hipo.20660","article-title":"Basement membrane protein nidogen-1 shapes hippocampal synaptic plasticity and excitability","volume":"20","author":"A Vasudevan","year":"2010","journal-title":"Hippocampus"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"39620","DOI":"10.1074\/jbc.M607886200","article-title":"Loss of nidogen-1 and -2 results in syndactyly and changes in limb development","volume":"281","author":"K B\u00f6se","year":"2006","journal-title":"J Biol Chem"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"30587","DOI":"10.1074\/jbc.271.48.30587","article-title":"Domain-specific interactions between entactin and neutrophil integrins: G2 domain ligation of integrin alpha3beta1 and E domain ligation of the leukocyte response integrin signal for different responses","volume":"271","author":"HD Gresham","year":"1996","journal-title":"J Biol Chem"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1002\/humu.22351","article-title":"Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles","volume":"34","author":"BW Darbro","year":"2013","journal-title":"Hum Mutat"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1146\/annurev.cellbio.22.010305.104258","article-title":"What mouse mutants teach us about extracellular matrix function","volume":"22","author":"A Asz\u00f3di","year":"2006","journal-title":"Annu Rev Cell Dev Biol"},{"key":"ref56","article-title":"Skin Basement Membrane: The Foundation of Epidermal Integrity\u2014BM Functions and Diverse Roles of Bridging Molecules Nidogen and Perlecan","author":"D Breitkreutz","year":"2013","journal-title":"BioMed Research Int"},{"key":"ref57","article-title":"Distribution of nidogen in the murine eye and ocular phenotype of the nidogen-1 knockout mouse","author":"CA May","year":"2012","journal-title":"ISRN Ophthalmol"},{"key":"ref58","doi-asserted-by":"crossref","unstructured":"Marchitti SA, Bateman JB, Petrash JM, Vasiliou V (2008) Mouse Models of the Cornea and Lens: Understanding Ocular Disease. In: Tsonis PA, editor, animal models in eye research. Academic Press, Elsiever.","DOI":"10.1016\/B978-0-12-374169-1.00011-4"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1093\/bioinformatics\/btm108","article-title":"GenABEL: an R library for genome-wide association analysis","volume":"23","author":"YS Aulchenko","year":"2007","journal-title":"Bioinformatics"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a toolset for whole-genome association and population-based linkage analysis","volume":"81","author":"S Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref62","unstructured":"Hompage Samtools (2014). Available: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/samtools.sourceforge.net\" xlink:type=\"simple\">http:\/\/samtools.sourceforge.net<\/ext-link>. Accessed 2014 Feb 27."},{"key":"ref63","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"key":"ref64","unstructured":"Homepage European Nucleotide Archive (2014). Available: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/www.ebi.ac.uk\/ena\/data\/view\/PRJEB5965\" xlink:type=\"simple\">http:\/\/www.ebi.ac.uk\/ena\/data\/view\/PRJEB5965<\/ext-link>. Accessed 2014 Jul 14."},{"key":"ref65","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"P Cingolani","year":"2012","journal-title":"Fly"},{"key":"ref66","doi-asserted-by":"crossref","first-page":"e115.","DOI":"10.1093\/nar\/gks596","article-title":"Primer3 - new capabilities and interfaces","volume":"40","author":"A Untergrasser","year":"2012","journal-title":"Nucleic Acids Res"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0110628","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T11:53:32Z","timestamp":1717502012000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0110628"}},"subtitle":[],"editor":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2014,10,27]]},"references-count":66,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2014,10,27]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0110628","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,27]]}}}