{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:42:26Z","timestamp":1792676546465,"version":"4.5.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,6,15]]},"DOI":"10.1093\/hmg\/ddp161","type":"journal-article","created":{"date-parts":[[2009,3,31]],"date-time":"2009-03-31T20:54:37Z","timestamp":1238532877000},"page":"2257-2265","source":"Crossref","is-referenced-by-count":116,"title":["SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway"],"prefix":"10.1093","volume":"18","author":[{"given":"Simon T.","family":"Cliffe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie M.","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris H.","family":"Robben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiko K.","family":"de Jong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjan P.","family":"de Brouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Nibbeling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Prendiville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chela","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja","family":"Padidela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlie","family":"Becknell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M.T.","family":"Deen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Lindeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Schenck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Buckley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,3,31]]},"reference":[{"key":"key\n\t\t\t\t20170522150818_DDP161C1","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.cmet.2008.08.006","article-title":"The emerging genetic architecture of type 2 diabetes","volume":"8","author":"Doria","year":"2008","journal-title":"Cell Metab."},{"key":"key\n\t\t\t\t20170522150818_DDP161C2","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1038\/ng0106-12","article-title":"Beyond the beta cell in diabetes","volume":"38","author":"Hattersley","year":"2006","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522150818_DDP161C3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1525-1470.2007.00352.x","article-title":"Pigmented hypertrichotic dermatosis and insulin dependent diabetes, manifestations of a unique genetic disorder?","volume":"24","author":"Prendiville","year":"2007","journal-title":"Pediatr. Dermatol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C4","article-title":"Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation. Confirmation of a syndrome","author":"Hussain","year":"2008","journal-title":"Pediatr. Diabetes"},{"key":"key\n\t\t\t\t20170522150818_DDP161C5","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1525-1470.2006.00201.x","article-title":"POEMS in childhood","volume":"23","author":"Marina","year":"2006","journal-title":"Pediatr. Dermatol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C6","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jaad.2008.03.021","article-title":"The H syndrome, a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations","volume":"59","author":"Molho-Pessach","year":"2008","journal-title":"J. Am. Acad. Dermatol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C7","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1098\/rstb.2000.0630","article-title":"Genetic control of size in Drosophila","volume":"355","author":"Oldham","year":"2000","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"key\n\t\t\t\t20170522150818_DDP161C8","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S0960-9822(01)00068-9","article-title":"An evolutionarily conserved function of the Drosophila insulin receptor and insulin-like peptides in growth control","volume":"11","author":"Brogiolo","year":"2001","journal-title":"Curr. Biol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C9","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1016\/S0960-9822(02)01043-6","article-title":"Nutrient-dependent expression of insulin-like peptides from neuroendocrine cells in the CNS contributes to growth regulation in Drosophila","volume":"12","author":"Ikeya","year":"2002","journal-title":"Curr. Biol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C10","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S1534-5807(02)00117-X","article-title":"Drosophila's insulin\/PI3-kinase pathway coordinates cellular metabolism with nutritional conditions","volume":"2","author":"Britton","year":"2002","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20170522150818_DDP161C11","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1471-213X-3-5","article-title":"Expression of Drosophila FOXO regulates growth and can phenocopy starvation","volume":"3","author":"Kramer","year":"2003","journal-title":"BMC Dev. Biol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C12","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1152\/physiolgenomics.00061.2006","article-title":"High-resolution dynamics of the transcriptional response to nutrition in Drosophila, a key role for dFOXO","volume":"29","author":"Gershman","year":"2007","journal-title":"Physiol. Genomics"},{"key":"key\n\t\t\t\t20170522150818_DDP161C13","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1007\/s00424-003-1103-2","article-title":"The equilibrative nucleoside transporter family, SLC29","volume":"447","author":"Baldwin","year":"2004","journal-title":"Pflugers Arch."},{"key":"key\n\t\t\t\t20170522150818_DDP161C14","doi-asserted-by":"crossref","first-page":"15880","DOI":"10.1074\/jbc.M414337200","article-title":"Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes","volume":"280","author":"Baldwin","year":"2005","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522150818_DDP161C15","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution","volume":"185","author":"Grantham","year":"1974","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522150818_DDP161C16","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170522150818_DDP161C17","doi-asserted-by":"crossref","first-page":"3045","DOI":"10.1093\/hmg\/ddh339","article-title":"A novel mechanism in recessive nephrogenic diabetes insipidus, wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L","volume":"13","author":"de Mattia","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522150818_DDP161C18","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1093\/oxfordjournals.molbev.a004044","article-title":"Molecular evolution of the equilibrative nucleoside transporter family, identification of novel family members in prokaryotes and eukaryotes","volume":"19","author":"Acimovic","year":"2002","journal-title":"Mol. Biol. Evol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/nature05954","article-title":"A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila","volume":"448","author":"Dietzl","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522150818_DDP161C20","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1242\/dev.118.2.401","article-title":"Targeted gene expression as a means of altering cell fates and generating dominant phenotypes","volume":"118","author":"Brand","year":"1993","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522150818_DDP161C21","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1101\/gad.8.5.629","article-title":"Raf acts downstream of the EGF receptor to determine dorsoventral polarity during Drosophila oogenesis","volume":"8","author":"Brand","year":"1994","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522150818_DDP161C22","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.ydbio.2005.09.033","article-title":"The Drosophila LIM-homeo domain protein Islet antagonizes pro-neural cell specification in the peripheral nervous system","volume":"288","author":"Biryukova","year":"2005","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C23","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1242\/dev.117.2.509","article-title":"The distribution of PS integrins, laminin A and F-actin during key stages in Drosophila wing development","volume":"117","author":"Fristrom","year":"1993","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522150818_DDP161C24","doi-asserted-by":"crossref","first-page":"15020","DOI":"10.1073\/pnas.011318098","article-title":"PDK1 regulates growth through Akt and S6K in Drosophila","volume":"98","author":"Rintelen","year":"2001","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522150818_DDP161C25","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1152\/physiolgenomics.00087.2006","article-title":"Genomic analysis of nucleoside transporters in Diptera and functional characterization of DmENT2, a Drosophila equilibrative nucleoside transporter","volume":"28","author":"Machado","year":"2007","journal-title":"Physiol. Genomics"},{"key":"key\n\t\t\t\t20170522150818_DDP161C26","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1152\/physiol.00036.2007","article-title":"Physiology of nucleoside transporters, back to the future","volume":"23","author":"Rose","year":"2008","journal-title":"Physiology (Bethesda)"},{"key":"key\n\t\t\t\t20170522150818_DDP161C27","doi-asserted-by":"crossref","first-page":"G910","DOI":"10.1152\/ajpgi.90672.2008","article-title":"Facilitated mitochondrial import of anti viral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3 (hENT3)","volume":"296","author":"Govindarajan","year":"2009","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C28","doi-asserted-by":"crossref","first-page":"2126","DOI":"10.1126\/science.285.5436.2126","article-title":"Drosophila S6 kinase, a regulator of cell size","volume":"285","author":"Montagne","year":"1999","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522150818_DDP161C29","doi-asserted-by":"crossref","first-page":"11692","DOI":"10.1073\/pnas.97.22.11692","article-title":"Notch signaling in the development of the inner ear, lessons from Drosophila","volume":"97","author":"Eddison","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522150818_DDP161C30","doi-asserted-by":"crossref","first-page":"4645","DOI":"10.1242\/dev.125.23.4645","article-title":"Cell fate choices and the expression of Notch, Delta and Serrate homologues in the chick inner ear, parallels with Drosophila sense-organ development","volume":"125","author":"Adam","year":"1998","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522150818_DDP161C31","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1046\/j.0022-202x.2001.01670.x","article-title":"Molecular mechanisms regulating hair follicle development","volume":"118","author":"Millar","year":"2002","journal-title":"J. Invest. Dermatol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C32","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1534\/genetics.106.061283","article-title":"A gain-of-function screen identifying genes required for vein formation in the Drosophila melanogaster wing","volume":"174","author":"Molnar","year":"2006","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20170522150818_DDP161C33","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1086\/503875","article-title":"Quantification of homozygosity in consanguineous individuals with autosomal recessive disease","volume":"78","author":"Woods","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522150818_DDP161C34","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522150818_DDP161C35","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","article-title":"Prediction of human mRNA donor and acceptor sites from the DNA sequence","volume":"220","author":"Brunak","year":"1991","journal-title":"J. Mol. Biol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C36","doi-asserted-by":"crossref","first-page":"5693","DOI":"10.1091\/mbc.E04-04-0337","article-title":"Regulation of the vasopressin V2 receptor by vasopressin in polarized renal collecting duct cells","volume":"15","author":"Robben","year":"2004","journal-title":"Mol. Biol. Cell."},{"key":"key\n\t\t\t\t20170522150818_DDP161C37","doi-asserted-by":"crossref","first-page":"F330","DOI":"10.1152\/ajprenal.0168.2001","article-title":"Aquaporin-2, COOH terminus is necessary but not sufficient for routing to the apical membrane","volume":"282","author":"Deen","year":"2002","journal-title":"Am. J. Physiol. Renal Physiol."},{"key":"key\n\t\t\t\t20170522150818_DDP161C38","doi-asserted-by":"crossref","first-page":"3565","DOI":"10.1167\/iovs.06-0141","article-title":"Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2\/Versican that result in an imbalance of splice variants","volume":"47","author":"Mukhopadhyay","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"key\n\t\t\t\t20170522150818_DDP161C39","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"key\n\t\t\t\t20170522150818_DDP161C40","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1023\/B:BILE.0000019559.84305.47","article-title":"Determination of stable housekeeping genes, differentially regulated target genes and sample integrity, BestKeeper\u2013Excel-based tool using pair-wise correlations","volume":"26","author":"Pfaffl","year":"2004","journal-title":"Biotechnol. Lett."},{"key":"key\n\t\t\t\t20170522150818_DDP161C41","first-page":"43","article-title":"GAL4 causes developmental defects and apoptosis when expressed in the developing eye of Drosophila melanogaster","volume":"2","author":"Kramer","year":"2003","journal-title":"Genet. Mol. Res."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/18\/12\/2257\/17247225\/ddp161.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,3]],"date-time":"2021-10-03T16:35:03Z","timestamp":1633278903000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddp161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,31]]},"references-count":41,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2009,3,31]]},"published-print":{"date-parts":[[2009,6,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddp161","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2009,3,31]]}}}