{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:40:19Z","timestamp":1791826819254,"version":"4.3.4"},"reference-count":96,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,4,1]],"date-time":"2015-04-01T00:00:00Z","timestamp":1427846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,23]],"date-time":"2016-04-23T00:00:00Z","timestamp":1461369600000},"content-version":"vor","delay-in-days":388,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cell"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1016\/j.cell.2015.03.006","type":"journal-article","created":{"date-parts":[[2015,4,23]],"date-time":"2015-04-23T15:48:23Z","timestamp":1429804103000},"page":"634-646","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":71,"title":["Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease"],"prefix":"10.1016","volume":"161","author":[{"given":"Christopher\u00a0M.","family":"Chou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan\u00a0A.","family":"Tarl\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan\u00a0T.","family":"Pribila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Bardakjian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Glaser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cell.2015.03.006_bib1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib2","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/hmg\/7.9.1475","article-title":"Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand","volume":"7","author":"Anderson","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib3","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/gepi.20371","article-title":"A multiple splitting approach to linkage analysis in large pedigrees identifies a linkage to asthma on chromosome 12","volume":"33","author":"Bellenguez","year":"2009","journal-title":"Genet. Epidemiol."},{"key":"10.1016\/j.cell.2015.03.006_bib4","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/S0022-2275(20)41517-2","article-title":"Characterization of chylomicron remnant clearance by retinyl palmitate label in normal humans","volume":"33","author":"Berr","year":"1992","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.cell.2015.03.006_bib5","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1093\/ajcn\/69.5.931","article-title":"Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein","volume":"69","author":"Biesalski","year":"1999","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.cell.2015.03.006_bib6","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0925-4773(97)00039-7","article-title":"Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein","volume":"63","author":"Bouillet","year":"1997","journal-title":"Mech. Dev."},{"key":"10.1016\/j.cell.2015.03.006_bib7","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/S0140-6736(97)06486-6","article-title":"Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study","volume":"351","author":"Burn","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.cell.2015.03.006_bib8","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/S1359-0278(98)00039-X","article-title":"Release of retinol and denaturation of its plasma carrier, retinol-binding protein","volume":"3","author":"Bychkova","year":"1998","journal-title":"Fold. Des."},{"key":"10.1016\/j.cell.2015.03.006_bib9","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/S0022-2836(03)00468-6","article-title":"High-resolution structures of retinol-binding protein in complex with retinol: pH-induced protein structural changes in the crystal state","volume":"329","author":"Calderone","year":"2003","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib10","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/dvg.20444","article-title":"Retinoic acid signaling in development: tissue-specific functions and evolutionary origins","volume":"46","author":"Campo-Paysaa","year":"2008","journal-title":"Genesis"},{"key":"10.1016\/j.cell.2015.03.006_bib11","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1002\/humu.21590","article-title":"First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype","volume":"32","author":"Casey","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cell.2015.03.006_bib12","doi-asserted-by":"crossref","first-page":"E673","DOI":"10.1002\/humu.21023","article-title":"Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia","volume":"30","author":"Chassaing","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cell.2015.03.006_bib13","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1432-1033.1976.tb10390.x","article-title":"Binding affinities of retinol and related compounds to retinol binding proteins","volume":"65","author":"Cogan","year":"1976","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.cell.2015.03.006_bib14","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/prot.340080108","article-title":"Crystallographic refinement of human serum retinol binding protein at 2A resolution","volume":"8","author":"Cowan","year":"1990","journal-title":"Proteins"},{"key":"10.1016\/j.cell.2015.03.006_bib15","doi-asserted-by":"crossref","first-page":"e50205","DOI":"10.1371\/journal.pone.0050205","article-title":"Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities","volume":"7","author":"Cukras","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.cell.2015.03.006_bib16","doi-asserted-by":"crossref","first-page":"63","DOI":"10.3390\/nu3010063","article-title":"Vitamin A metabolism: an update","volume":"3","author":"D\u2019Ambrosio","year":"2011","journal-title":"Nutrients"},{"key":"10.1016\/j.cell.2015.03.006_bib17","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1073\/pnas.44.7.648","article-title":"Vitamin A deficiency and night blindness","volume":"44","author":"Dowling","year":"1958","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.cell.2015.03.006_bib18","series-title":"Vitamin A and Retinoids: An Update of Biological Aspects and Clinical Applications","first-page":"73","article-title":"The role and evolutionary development of retinoic-acid signalling in the eye","author":"Drager","year":"2000"},{"key":"10.1016\/j.cell.2015.03.006_bib19","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.cbi.2008.09.004","article-title":"Keeping an eye on retinoic acid signaling during eye development","volume":"178","author":"Duester","year":"2009","journal-title":"Chem. Biol. Interact."},{"key":"10.1016\/j.cell.2015.03.006_bib20","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/ng1120","article-title":"Mutations in SOX2 cause anophthalmia","volume":"33","author":"Fantes","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib21","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.ajhg.2012.12.003","article-title":"ALDH1A3 mutations cause recessive anophthalmia and microphthalmia","volume":"92","author":"Fares-Taie","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3180001","article-title":"The lipocalin protein family: structure and function","volume":"318","author":"Flower","year":"1996","journal-title":"Biochem. J."},{"key":"10.1016\/j.cell.2015.03.006_bib23","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1016\/j.bbrc.2005.08.227","article-title":"Biochemical basis for retinol deficiency induced by the I41N and G75D mutations in human plasma retinol-binding protein","volume":"336","author":"Folli","year":"2005","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.cell.2015.03.006_bib24","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/978-1-60327-325-1_11","article-title":"The interaction between retinol-binding protein and transthyretin analyzed by fluorescence anisotropy","volume":"652","author":"Folli","year":"2010","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib25","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1086\/518177","article-title":"Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6","volume":"80","author":"Golzio","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib26","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/S0022-2275(20)39309-3","article-title":"Tissue distribution and metabolism of newly absorbed vitamin A in the rat","volume":"6","author":"Goodman","year":"1965","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.cell.2015.03.006_bib27","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0070-2153(10)90010-0","article-title":"Eye development","volume":"90","author":"Graw","year":"2010","journal-title":"Curr. Top. Dev. Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib28","doi-asserted-by":"crossref","first-page":"9475","DOI":"10.1021\/bi060229c","article-title":"Characterization of the molten globule of human serum retinol-binding protein using NMR spectroscopy","volume":"45","author":"Greene","year":"2006","journal-title":"Biochemistry"},{"key":"10.1016\/j.cell.2015.03.006_bib29","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1093\/oxfordjournals.jhered.a103720","article-title":"Pigs born without eyeballs","volume":"24","author":"Hale","year":"1933","journal-title":"J.\u00a0Hered."},{"key":"10.1016\/j.cell.2015.03.006_bib30","doi-asserted-by":"crossref","first-page":"5933","DOI":"10.1016\/S0021-9258(20)79908-4","article-title":"The binding stoichiometry of human plasma retinol-binding protein to prealbumin","volume":"249","author":"Heller","year":"1974","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib31","first-page":"HY23","article-title":"Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy","volume":"9","author":"Hornby","year":"2003","journal-title":"Med. Sci. Monit."},{"key":"10.1016\/j.cell.2015.03.006_bib32","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s004290050067","article-title":"Retinoid binding proteins in mouse yolk sac and chorio-allantoic placentas","volume":"195","author":"Johansson","year":"1997","journal-title":"Anat. Embryol. (Berl.)"},{"key":"10.1016\/j.cell.2015.03.006_bib33","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1053\/plac.1999.0397","article-title":"Retinoid binding proteins-expression patterns in the human placenta","volume":"20","author":"Johansson","year":"1999","journal-title":"Placenta"},{"key":"10.1016\/j.cell.2015.03.006_bib34","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1172\/JCI105889","article-title":"Retinol-binding protein: the transport protein for vitamin A in human plasma","volume":"47","author":"Kanai","year":"1968","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.cell.2015.03.006_bib35","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1126\/science.1136244","article-title":"A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A","volume":"315","author":"Kawaguchi","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.cell.2015.03.006_bib36","doi-asserted-by":"crossref","first-page":"15160","DOI":"10.1074\/jbc.M801060200","article-title":"An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism","volume":"283","author":"Kawaguchi","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib37","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1007\/s00232-012-9463-1","article-title":"STRA6-catalyzed vitamin A influx, efflux, and exchange","volume":"245","author":"Kawaguchi","year":"2012","journal-title":"J.\u00a0Membr. Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib38","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.febslet.2011.03.044","article-title":"Engineered epidermal growth factor mutants with faster binding on-rates correlate with enhanced receptor activation","volume":"585","author":"Lahti","year":"2011","journal-title":"FEBS Lett."},{"key":"10.1016\/j.cell.2015.03.006_bib39","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.preteyeres.2004.03.001","article-title":"Dark adaptation and the retinoid cycle of vision","volume":"23","author":"Lamb","year":"2004","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.cell.2015.03.006_bib40","doi-asserted-by":"crossref","first-page":"30658","DOI":"10.1074\/jbc.M704513200","article-title":"Mutations designed to destabilize the receptor-bound conformation increase MICA-NKG2D association rate and affinity","volume":"282","author":"Lengyel","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib41","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/0167-4838(95)00264-2","article-title":"Retinoid binding to retinol-binding protein and the interference with the interaction with transthyretin","volume":"1294","author":"Malpeli","year":"1996","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.cell.2015.03.006_bib42","doi-asserted-by":"crossref","first-page":"12036","DOI":"10.1016\/S0021-9258(19)49802-5","article-title":"Ligand-dependent secretion of rat retinol-binding protein expressed in HeLa cells","volume":"267","author":"Melhus","year":"1992","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib43","doi-asserted-by":"crossref","first-page":"4724","DOI":"10.1093\/hmg\/ddr387","article-title":"Genome-wide association study of circulating retinol levels","volume":"20","author":"Mondul","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib44","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1136\/jmg.39.1.16","article-title":"National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology","volume":"39","author":"Morrison","year":"2002","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib45","doi-asserted-by":"crossref","first-page":"2542","DOI":"10.1016\/S0021-9258(19)45460-4","article-title":"Regulation of retinol-binding protein metabolism by vitamin A status in the rat","volume":"247","author":"Muto","year":"1972","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib46","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/S0167-4838(00)00150-3","article-title":"Plasma retinol binding protein: structure and function of the prototypic lipocalin","volume":"1482","author":"Newcomer","year":"2000","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.cell.2015.03.006_bib47","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/nrg2340","article-title":"Retinoic acid in development: towards an integrated view","volume":"9","author":"Niederreither","year":"2008","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib48","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/0002-9149(87)90956-8","article-title":"Maternal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens","volume":"59","author":"Nora","year":"1987","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.cell.2015.03.006_bib49","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0039-6257(00)00151-X","article-title":"Ocular colobomata","volume":"45","author":"Onwochei","year":"2000","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.cell.2015.03.006_bib50","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1086\/512203","article-title":"Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation","volume":"80","author":"Pasutto","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib51","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0021-9258(18)62529-3","article-title":"Studies on the interaction between prealbumin, retinol-binding protein, and vitamin A","volume":"246","author":"Peterson","year":"1971","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib52","doi-asserted-by":"crossref","first-page":"E844","DOI":"10.1152\/ajpendo.00556.2003","article-title":"Transplacental delivery of retinoid: the role of retinol-binding protein and lipoprotein retinyl ester","volume":"286","author":"Quadro","year":"2004","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"10.1016\/j.cell.2015.03.006_bib53","doi-asserted-by":"crossref","first-page":"4479","DOI":"10.1210\/en.2005-0158","article-title":"Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency","volume":"146","author":"Quadro","year":"2005","journal-title":"Endocrinology"},{"key":"10.1016\/j.cell.2015.03.006_bib54","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1093\/jn\/135.11.2512","article-title":"Megalin-mediated reuptake of retinol in the kidneys of mice is essential for vitamin A homeostasis","volume":"135","author":"Raila","year":"2005","journal-title":"J.\u00a0Nutr."},{"key":"10.1016\/j.cell.2015.03.006_bib55","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1016\/S0021-9258(18)63184-9","article-title":"Studies on the protein-protein and protein-ligand interactions involved in retinol transport in plasma","volume":"245","author":"Raz","year":"1970","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib56","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/(SICI)1097-0177(199702)208:2<199::AID-AJA7>3.0.CO;2-D","article-title":"Differential expression of transcripts encoding retinoid binding proteins and retinoic acid receptors during placentation of the mouse","volume":"208","author":"Sapin","year":"1997","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.cell.2015.03.006_bib57","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ydbio.2008.09.030","article-title":"The temporal requirement for vitamin A in the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina","volume":"325","author":"See","year":"2009","journal-title":"Dev. Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib58","doi-asserted-by":"crossref","first-page":"5579","DOI":"10.1091\/mbc.E08-01-0026","article-title":"Oxidative folding and assembly with transthyretin are sequential events in the biogenesis of retinol binding protein in the endoplasmic reticulum","volume":"19","author":"Selvaraj","year":"2008","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.cell.2015.03.006_bib59","series-title":"The Retinoids: Biology, Chemistry, and Medicine","first-page":"257","article-title":"Plasma retinol-binding protein","author":"Soprano","year":"1994"},{"key":"10.1016\/j.cell.2015.03.006_bib60","doi-asserted-by":"crossref","first-page":"7330","DOI":"10.1073\/pnas.83.19.7330","article-title":"Retinol-binding protein and transthyretin mRNA levels in visceral yolk sac and liver during fetal development in the rat","volume":"83","author":"Soprano","year":"1986","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.cell.2015.03.006_bib61","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.cell.2012.02.054","article-title":"A mechanism for gene-environment interaction in the etiology of congenital scoliosis","volume":"149","author":"Sparrow","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.cell.2015.03.006_bib62","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1126\/science.58.1501.269","article-title":"Inheritance of direction of coiling in Limnaea","volume":"58","author":"Sturtevant","year":"1923","journal-title":"Science"},{"key":"10.1016\/j.cell.2015.03.006_bib63","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1074\/jbc.M008091200","article-title":"Biochemical basis for depressed serum retinol levels in transthyretin-deficient mice","volume":"276","author":"van Bennekum","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib64","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/nrm2330","article-title":"Membrane lipids: where they are and how they behave","volume":"9","author":"van Meer","year":"2008","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib65","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1095\/biolreprod57.4.751","article-title":"A retinol-binding protein receptor-mediated mechanism for uptake of vitamin A to postimplantation rat embryos","volume":"57","author":"Ward","year":"1997","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.cell.2015.03.006_bib66","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1001\/archopht.1946.00890200155008","article-title":"Congenital malformations induced in rats by maternal vitamin A deficiency; defects of the eye","volume":"35","author":"Warkany","year":"1946","journal-title":"Arch. Ophthal."},{"key":"10.1016\/j.cell.2015.03.006_bib67","doi-asserted-by":"crossref","first-page":"32198","DOI":"10.1074\/jbc.M111.253070","article-title":"Uptake of dietary retinoids at the maternal-fetal barrier: in\u00a0vivo evidence for the role of lipoprotein lipase and alternative pathways","volume":"286","author":"Wassef","year":"2011","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib68","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/prot.22223","article-title":"Selected-fit versus induced-fit protein binding: kinetic differences and mutational analysis","volume":"75","author":"Weikl","year":"2009","journal-title":"Proteins"},{"key":"10.1016\/j.cell.2015.03.006_bib69","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ejmg.2014.05.002","article-title":"The genetic architecture of microphthalmia, anophthalmia and coloboma","volume":"57","author":"Williamson","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib70","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/aja.1000920202","article-title":"An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation","volume":"92","author":"Wilson","year":"1953","journal-title":"Am. J. Anat."},{"key":"10.1016\/j.cell.2015.03.006_bib71","doi-asserted-by":"crossref","first-page":"3250","DOI":"10.1093\/hmg\/ddt179","article-title":"ALDH1A3 loss of function causes bilateral anophthalmia\/microphthalmia and hypoplasia of the optic nerve and optic chiasm","volume":"22","author":"Yahyavi","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cell.2015.03.006_bib72","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1006\/jmbi.1993.1173","article-title":"Crystal structure of the trigonal form of human plasma retinol-binding protein at 2.5 A resolution","volume":"230","author":"Zanotti","year":"1993","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.cell.2015.03.006_bib73","doi-asserted-by":"crossref","first-page":"D102","DOI":"10.1093\/nar\/gkm955","article-title":"JASPAR, the open access database of transcription factor-binding profiles: new content and tools in the 2008 update","volume":"36","author":"Bryne","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.cell.2015.03.006_bib74","unstructured":"Chemical Computing Group, I. (2012). Molecular Operating Environment (MOE), 2010.10."},{"key":"10.1016\/j.cell.2015.03.006_bib75","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1093\/nar\/gkl143","article-title":"Polycistronic RNA polymerase II expression vectors for RNA interference based on BIC\/miR-155","volume":"34","author":"Chung","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.cell.2015.03.006_bib76","doi-asserted-by":"crossref","first-page":"W285","DOI":"10.1093\/nar\/gkm407","article-title":"SplicePort\u2014an interactive splice-site analysis tool","volume":"35","author":"Dogan","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.cell.2015.03.006_bib77","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0771-050X(80)90013-3","article-title":"A family of embedded Runge-Kutta formulae","volume":"6","author":"Dormand","year":"1980","journal-title":"J.\u00a0Comput. Appl. Math."},{"key":"10.1016\/j.cell.2015.03.006_bib78","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1021\/bi00829a048","article-title":"Studies on phosphatidylcholine vesicles. Formation and physical characteristics","volume":"8","author":"Huang","year":"1969","journal-title":"Biochemistry"},{"key":"10.1016\/j.cell.2015.03.006_bib79","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1111\/j.1476-5381.2009.00604.x","article-title":"Ligand binding assays at equilibrium: validation and interpretation","volume":"161","author":"Hulme","year":"2010","journal-title":"Br. J. Pharmacol."},{"key":"10.1016\/j.cell.2015.03.006_bib80","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/1472-6750-8-91","article-title":"An efficient one-step site-directed deletion, insertion, single and multiple-site plasmid mutagenesis protocol","volume":"8","author":"Liu","year":"2008","journal-title":"BMC Biotechnol."},{"key":"10.1016\/j.cell.2015.03.006_bib81","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1016\/S0022-2275(20)38628-4","article-title":"Production and secretion of retinol-binding protein by a human hepatoma cell line, HepG2","volume":"28","author":"Marinari","year":"1987","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.cell.2015.03.006_bib82","doi-asserted-by":"crossref","first-page":"18859","DOI":"10.1016\/S0021-9258(17)46706-8","article-title":"Specific uptake of retinol-binding protein by variant F9 cell lines","volume":"268","author":"Matarese","year":"1993","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib83","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/0092-8674(87)90086-9","article-title":"A C-terminal signal prevents secretion of luminal ER proteins","volume":"48","author":"Munro","year":"1987","journal-title":"Cell"},{"key":"10.1016\/j.cell.2015.03.006_bib84","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/nmeth1109","article-title":"Microarray-based genomic selection for high-throughput resequencing","volume":"4","author":"Okou","year":"2007","journal-title":"Nat. Methods"},{"key":"10.1016\/j.cell.2015.03.006_bib85","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.ab.2010.03.044","article-title":"Exploring minimal biotinylation conditions for biosensor analysis using capture chips","volume":"403","author":"Papalia","year":"2010","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.cell.2015.03.006_bib86","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1042\/BA20020100","article-title":"A new method for purification of human plasma retinol-binding protein and transthyretin","volume":"38","author":"Raghu","year":"2003","journal-title":"Biotechnol. Appl. Biochem."},{"key":"10.1016\/j.cell.2015.03.006_bib87","first-page":"177","article-title":"Genetic identification of tissue of origin of cellular populations within the mouse placenta","volume":"86","author":"Rossant","year":"1985","journal-title":"J.\u00a0Embryol. Exp. Morphol."},{"key":"10.1016\/j.cell.2015.03.006_bib88","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/jcp.1040740208","article-title":"The effect of serum components on sterol biosynthesis in L cells","volume":"74","author":"Rothblat","year":"1969","journal-title":"J.\u00a0Cell. Physiol."},{"key":"10.1016\/j.cell.2015.03.006_bib89","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1076\/noph.28.1.41.17339","article-title":"Unilateral coexistent optic pit and choroidal coloboma","volume":"28","author":"Saatci","year":"2002","journal-title":"Neuroophthalmology"},{"key":"10.1016\/j.cell.2015.03.006_bib90","series-title":"Neuro-ophthalmology: Handbook of Clinical Neurology","first-page":"117","article-title":"Abnormalities of the optic disc","author":"Sadun","year":"2011"},{"key":"10.1016\/j.cell.2015.03.006_bib91","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ab.2009.05.038","article-title":"Time-resolved fluorescence resonance energy transfer and surface plasmon resonance-based assays for retinoid and transthyretin binding to retinol-binding protein 4","volume":"392","author":"Sharif","year":"2009","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.cell.2015.03.006_bib92","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1021\/ac950914h","article-title":"Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels","volume":"68","author":"Shevchenko","year":"1996","journal-title":"Anal. Chem."},{"key":"10.1016\/j.cell.2015.03.006_bib93","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1097\/00006982-200106000-00018","article-title":"Hereditary optic pit and iris coloboma in three generations of a single family","volume":"21","author":"Singerman","year":"2001","journal-title":"Retina"},{"key":"10.1016\/j.cell.2015.03.006_bib94","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/0092-8674(78)90271-4","article-title":"Regulation of retinol-binding protein metabolism in cultured rat liver cell lines","volume":"15","author":"Smith","year":"1978","journal-title":"Cell"},{"key":"10.1016\/j.cell.2015.03.006_bib95","unstructured":"The PyMOL Molecular Graphics System Version 1.5.0.1 Schr\u00f6dinger, LLC. (www.pymol.org)."},{"key":"10.1016\/j.cell.2015.03.006_bib96","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1001\/archopht.123.10.1450","article-title":"Double optic discs, optic disc coloboma, and pit: spectrum of hybrid disc anomalies in a single eye","volume":"123","author":"Vedantham","year":"2005","journal-title":"Arch. Ophthalmol."}],"container-title":["Cell"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0092867415002597?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0092867415002597?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T22:52:22Z","timestamp":1651791142000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0092867415002597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":96,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["S0092867415002597"],"URL":"https:\/\/doi.org\/10.1016\/j.cell.2015.03.006","relation":{},"ISSN":["0092-8674"],"issn-type":[{"value":"0092-8674","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease","name":"articletitle","label":"Article Title"},{"value":"Cell","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cell.2015.03.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}