{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T21:39:20Z","timestamp":1769204360142,"version":"3.49.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,8,20]],"date-time":"2008-08-20T00:00:00Z","timestamp":1219190400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1038\/ejhg.2008.145","type":"journal-article","created":{"date-parts":[[2008,8,20]],"date-time":"2008-08-20T13:12:00Z","timestamp":1219237920000},"page":"71-79","source":"Crossref","is-referenced-by-count":31,"title":["Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat"],"prefix":"10.1038","volume":"17","author":[{"given":"Mariona","family":"Font-Llitj\u00f3s","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjam\u00edn","family":"Rodr\u00edguez-Santiago","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meritxell","family":"Espino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Sillu\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Ma\u00f1as","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laia","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis A","family":"P\u00e9rez-Jurado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Palac\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Nunes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,8,20]]},"reference":[{"key":"BFejhg2008145_CR1","first-page":"4933","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"O Simell","year":"2001","unstructured":"Simell O : Lysinuric protein intolerance and other cationic aminoacidurias; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001, Vol III, pp 4933\u20134956."},{"key":"BFejhg2008145_CR2","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1093\/hmg\/9.3.431","volume":"9","author":"J Mykkanen","year":"2000","unstructured":"Mykkanen J, Torrents D, Pineda M et al: Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet 2000; 9: 431\u2013438.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2008145_CR3","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1086\/302700","volume":"66","author":"MP Sperandeo","year":"2000","unstructured":"Sperandeo MP, Bassi MT, Riboni M et al: Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet 2000; 66: 92\u201399.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008145_CR4","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C","volume":"15","author":"A Noguchi","year":"2000","unstructured":"Noguchi A, Shoji Y, Koizumi A et al: SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat 2000; 15: 367\u2013372.","journal-title":"Hum Mutat"},{"key":"BFejhg2008145_CR5","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1007\/BF03195224","volume":"48","author":"L Cimbalistiene","year":"2007","unstructured":"Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V : First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. J Appl Genet 2007; 48: 277\u2013280.","journal-title":"J Appl Genet"},{"key":"BFejhg2008145_CR6","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1002\/humu.20589","volume":"29","author":"MP Sperandeo","year":"2008","unstructured":"Sperandeo MP, Andria G, Sebastio G : Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat 2008; 29: 14\u201321.","journal-title":"Hum Mutat"},{"key":"BFejhg2008145_CR7","first-page":"112","volume":"20","author":"M Palac\u00edn","year":"2005","unstructured":"Palac\u00edn M, Nunes V, Font-Llitj\u00f3s M et al: The genetics of heteromeric amino acid transporters. Physiology (Bethesda) 2005; 20: 112\u2013124.","journal-title":"Physiology (Bethesda)"},{"key":"BFejhg2008145_CR8","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.jpeds.2007.01.043","volume":"150","author":"LM Tanner","year":"2007","unstructured":"Tanner LM, Nanto-Salonen K, Niinikoski H et al: Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. J Pediatr 2007; 150: 631\u2013634, 634.e1.","journal-title":"J Pediatr"},{"issue":"Suppl 1","key":"BFejhg2008145_CR9","doi-asserted-by":"publisher","first-page":"S27","DOI":"10.1016\/j.ymgme.2003.11.015","volume":"81","author":"M Palacin","year":"2004","unstructured":"Palacin M, Bertran J, Chillaron J, Estevez R, Zorzano A : Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab 2004; 81 (Suppl 1): S27\u2013S37.","journal-title":"Mol Genet Metab"},{"key":"BFejhg2008145_CR10","doi-asserted-by":"publisher","first-page":"C540","DOI":"10.1152\/ajpcell.00166.2007","volume":"293","author":"S Broer","year":"2007","unstructured":"Broer S : Lysinuric protein intolerance: one gene \u2013 many problems. Am J Physiol Cell Physiol 2007; 293: C540\u2013C541.","journal-title":"Am J Physiol Cell Physiol"},{"key":"BFejhg2008145_CR11","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.metabol.2006.09.011","volume":"56","author":"LM Tanner","year":"2007","unstructured":"Tanner LM, Nanto-Salonen K, Niinikoski H, Huoponen K, Simell O : Long-term oral lysine supplementation in lysinuric protein intolerance. Metabolism 2007; 56: 185\u2013189.","journal-title":"Metabolism"},{"key":"BFejhg2008145_CR12","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1038\/sj.ejhg.5200236","volume":"6","author":"T Lauteala","year":"1998","unstructured":"Lauteala T, Mykkanen J, Sperandeo MP et al: Genetic homogeneity of lysinuric protein intolerance. Eur J Hum Genet 1998; 6: 612\u2013615.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2008145_CR13","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1086\/515457","volume":"60","author":"T Lauteala","year":"1997","unstructured":"Lauteala T, Sistonen P, Savontaus ML et al: Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am J Hum Genet 1997; 60: 1479\u20131486.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008145_CR14","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1038\/6809","volume":"21","author":"D Torrents","year":"1999","unstructured":"Torrents D, Mykkanen J, Pineda M et al: Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet 1999; 21: 293\u2013296.","journal-title":"Nat Genet"},{"key":"BFejhg2008145_CR15","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1038\/6815","volume":"21","author":"G Borsani","year":"1999","unstructured":"Borsani G, Bassi MT, Sperandeo MP et al: SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 1999; 21: 297\u2013301.","journal-title":"Nat Genet"},{"key":"BFejhg2008145_CR16","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.ymgme.2006.11.007","volume":"90","author":"K Puomila","year":"2007","unstructured":"Puomila K, Simell O, Huoponen K, Mykkanen J : Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. Mol Genet Metab 2007; 90: 298\u2013306.","journal-title":"Mol Genet Metab"},{"key":"BFejhg2008145_CR17","doi-asserted-by":"publisher","first-page":"32437","DOI":"10.1074\/jbc.273.49.32437","volume":"273","author":"D Torrents","year":"1998","unstructured":"Torrents D, Est\u00e9vez R, Pineda M et al: Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. J Biol Chem 1998; 273: 32437\u201332445.","journal-title":"J Biol Chem"},{"key":"BFejhg2008145_CR18","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/S0959-437X(00)00198-2","volume":"11","author":"M Palac\u00edn","year":"2001","unstructured":"Palac\u00edn M, Borsani G, Sebastio G : The molecular bases of cystinuria and lysinuric protein intolerance. Curr Opin Genet Dev 2001; 11: 328\u2013335.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg2008145_CR19","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1101\/gr.229202","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent WJ : BLAT \u2013 the BLAST-like alignment tool. Genome Res 2002; 12: 656\u2013664.","journal-title":"Genome Res"},{"key":"BFejhg2008145_CR20","doi-asserted-by":"publisher","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","author":"JP Schouten","year":"2002","unstructured":"Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G : Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002; 30: e57.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg2008145_CR21","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1136\/jmg.40.12.907","volume":"40","author":"HR Slater","year":"2003","unstructured":"Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KH : Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003; 40: 907\u2013912.","journal-title":"J Med Genet"},{"key":"BFejhg2008145_CR22","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1007\/s10545-006-0236-9","volume":"29","author":"L Gomez","year":"2006","unstructured":"Gomez L, Garcia-Cazorla A, Gutierrez A et al: Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance. J Inherit Metab Dis 2006; 29: 687.","journal-title":"J Inherit Metab Dis"},{"key":"BFejhg2008145_CR23","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1016\/S0006-291X(03)01473-6","volume":"308","author":"H Tsumura","year":"2003","unstructured":"Tsumura H, Suzuki N, Saito H et al: The targeted disruption of the CD98 gene results in embryonic lethality. Biochem Biophys Res Commun 2003; 308: 847\u2013851.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg2008145_CR24","doi-asserted-by":"publisher","first-page":"31444","DOI":"10.1074\/jbc.M704524200","volume":"282","author":"J Fort","year":"2007","unstructured":"Fort J, de la Ballina LR, Burghardt HE et al: The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane. J Biol Chem 2007; 282: 31444\u201331452.","journal-title":"J Biol Chem"},{"key":"BFejhg2008145_CR25","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.molcel.2006.05.031","volume":"23","author":"M Proft","year":"2006","unstructured":"Proft M, Mas G, de Nadal E et al: The stress-activated Hog1 kinase is a selective transcriptional elongation factor for genes responding to osmotic stress. Mol Cell 2006; 23: 241\u2013250.","journal-title":"Mol Cell"},{"key":"BFejhg2008145_CR26","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/S0092-8674(01)00202-1","volume":"104","author":"LE Maquat","year":"2001","unstructured":"Maquat LE, Carmichael GG : Quality control of mRNA function. Cell 2001; 104: 173\u2013176.","journal-title":"Cell"},{"key":"BFejhg2008145_CR27","doi-asserted-by":"publisher","first-page":"13270","DOI":"10.1074\/jbc.M610695200","volume":"282","author":"N Reig","year":"2007","unstructured":"Reig N, del Rio C, Casagrande F et al: Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters. J Biol Chem 2007; 282: 13270\u201313281.","journal-title":"J Biol Chem"},{"key":"BFejhg2008145_CR28","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1016\/j.jmb.2007.09.044","volume":"374","author":"L Stiburek","year":"2007","unstructured":"Stiburek L, Fornuskova D, Wenchich L, Pejznochova M, Hansikova H, Zeman J : Knockdown of human Oxa1l Impairs the biogenesis of F(1)F(o)-ATP synthase and NADH:Ubiquinone oxidoreductase. J Mol Biol 2007; 374: 506\u2013516.","journal-title":"J Mol Biol"},{"key":"BFejhg2008145_CR29","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1101\/gr.7.8.773","volume":"7","author":"SM Purandare","year":"1997","unstructured":"Purandare SM, Patel PI : Recombination hot spots and human disease. Genome Res 1997; 7: 773\u2013786.","journal-title":"Genome Res"},{"key":"BFejhg2008145_CR30","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/gcc.10111","volume":"35","author":"E Kolomietz","year":"2002","unstructured":"Kolomietz E, Meyn MS, Pandita A, Squire JA : The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes Chromosomes Cancer 2002; 35: 97\u2013112.","journal-title":"Genes Chromosomes Cancer"},{"key":"BFejhg2008145_CR31","doi-asserted-by":"publisher","first-page":"e69","DOI":"10.1136\/jmg.2006.043448","volume":"44","author":"J Kanno","year":"2007","unstructured":"Kanno J, Hutchin T, Kamada F et al: Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet 2007; 44: e69.","journal-title":"J Med Genet"},{"key":"BFejhg2008145_CR32","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1136\/jmg.2004.019224","volume":"41","author":"BE Baysal","year":"2004","unstructured":"Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE : An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. J Med Genet 2004; 41: 703\u2013709.","journal-title":"J Med Genet"},{"key":"BFejhg2008145_CR33","doi-asserted-by":"publisher","first-page":"14162","DOI":"10.1073\/pnas.0405974101","volume":"101","author":"A Bacolla","year":"2004","unstructured":"Bacolla A, Jaworski A, Larson JE et al: Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004; 101: 14162\u201314167.","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008145","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008145.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:51:40Z","timestamp":1684417900000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2008145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,20]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["BFejhg2008145"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.145","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,20]]}}}