{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T02:44:14Z","timestamp":1774320254123,"version":"3.50.1"},"reference-count":14,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1233,"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":[[2012,6]]},"DOI":"10.1002\/humu.22071","type":"journal-article","created":{"date-parts":[[2012,3,13]],"date-time":"2012-03-13T18:32:08Z","timestamp":1331663528000},"page":"960-962","source":"Crossref","is-referenced-by-count":63,"title":["Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus"],"prefix":"10.1155","volume":"33","author":[{"given":"Mohammed A.","family":"Aldahmesh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arif O.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawahir Y.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed H.","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2012,4,16]]},"reference":[{"key":"10.1002\/humu.22071-BIB1|cit1","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2011.205","article-title":"In search of triallelism in Bardet-Biedl syndrome","author":"Abu-Safieh","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22071-BIB2|cit2","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1097\/GIM.0b013e31822623d5","article-title":"Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations","volume":"13","author":"Aldahmesh","year":"2011","journal-title":"Genet Med"},{"key":"10.1002\/humu.22071-BIB3|cit3","volume-title":"At the crossings: pediatric ophthalmology and strabismus","author":"Balkan","year":"2004"},{"key":"10.1002\/humu.22071-BIB4|cit4","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200407123","article-title":"A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells","volume":"169","author":"Bektas","year":"2005","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.22071-BIB5|cit5","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1194\/jlr.R004119","article-title":"Lipids and the ocular lens","volume":"51","author":"Borchman","year":"2010","journal-title":"J Lipid Res"},{"key":"10.1002\/humu.22071-BIB6|cit6","doi-asserted-by":"crossref","first-page":"118ra10","DOI":"10.1126\/scitranslmed.3003310","article-title":"Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing","volume":"4","author":"Calvo","year":"2012","journal-title":"Sci Transl Med"},{"key":"10.1002\/humu.22071-BIB7|cit7","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/j.semcdb.2006.10.005","article-title":"Lens induction in vertebrates: variations on a conserved theme of signaling events","volume":"17","author":"Donner","year":"2006","journal-title":"Semin Cell Dev Biol"},{"key":"10.1002\/humu.22071-BIB8|cit8","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.1016\/j.ophtha.2004.06.024","article-title":"A nationwide Danish study of 1027 cases of congenital\/infantile cataracts: etiological and clinical classifications.","volume":"111","author":"Haargaard","year":"2004","journal-title":"Ophthalmology"},{"key":"10.1002\/humu.22071-BIB9|cit9","doi-asserted-by":"crossref","first-page":"3565","DOI":"10.1093\/bioinformatics\/bti571","article-title":"easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data","volume":"21","author":"Hoffmann","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22071-BIB10|cit10","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":"Huang","year":"2010","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.22071-BIB11|cit11","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/j.ajo.2010.01.012","article-title":"Pediatric cataract: the Toronto experience-etiology","volume":"149","author":"Lim","year":"2010","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.22071-BIB12|cit12","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.ajhg.2011.12.005","article-title":"Lack of the mitochondrial protein acylglycerol kinase causes sengers syndrome","volume":"90","author":"Mayr","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22071-BIB13|cit13","doi-asserted-by":"crossref","first-page":"38228","DOI":"10.1074\/jbc.M405932200","article-title":"MuLK, a eukaryotic multi-substrate lipid kinase","volume":"279","author":"Waggoner","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22071-BIB14|cit14","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.cellsig.2008.10.010","article-title":"Lysophosphatidic acid signaling in airway epithelium: role in airway inflammation and remodeling","volume":"21","author":"Zhao","year":"2009","journal-title":"Cell Signal"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22071","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22071\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:28Z","timestamp":1672332808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,16]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22071","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,4,16]]}}}