{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T09:16:10Z","timestamp":1766135770661,"version":"3.46.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis"],"published-print":{"date-parts":[[2006,10]]},"DOI":"10.1016\/j.mrfmmm.2006.05.006","type":"journal-article","created":{"date-parts":[[2006,6,13]],"date-time":"2006-06-13T10:20:58Z","timestamp":1150194058000},"page":"39-45","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene"],"prefix":"10.1016","volume":"601","author":[{"given":"H. \u00dcmit","family":"L\u00fcleyap","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davut","family":"Alptekin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayfer","family":"Pazarba\u015f\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mulkiye","family":"Kasap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil","family":"Kasap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Demirhindi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neslihan","family":"Mungan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcler","family":"\u00d6zer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ursula G.","family":"Froster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mrfmmm.2006.05.006_bib1","first-page":"99","article-title":"PAHdb: a locus \u2013specific knowledgebase","volume":"15","author":"Scriver","year":"2000","journal-title":"Hum Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib2","unstructured":"C.R. Scriver, S. Kaufman, Hyperphenylalaninemia; phenylalanine hydroxylase deficiency, in: C.R. Scriver, A. Beaudet, W.S. Sly, D. Walle (Eds.), B. Childs, K.W. Kinzler, B. Vogelstein (Assoc Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, pp. 1667\u20131724."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib3","unstructured":"J. Dunlon, H.L. Levy, C.R. Scriver, Hyperphenylalaninemia; phenylalanine hydroxylase deficiency. Chapter 77 Online. http:\/\/genetics.accessmedicine.com\/."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib4","unstructured":"C.R. Scriver, A. Beaudet, W.S. Sly, D. Walle, in: B. Childs, K.W. Kinzler, B. Vogelstein (Assoc Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill Book Co., New York, 2005."},{"issue":"1","key":"10.1016\/j.mrfmmm.2006.05.006_bib5","first-page":"290","article-title":"Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (DHPLC): major implications for genetic counseling","volume":"15","author":"Le Marechal","year":"2000","journal-title":"Hum Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib6","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/(SICI)1097-0215(19980729)77:3<354::AID-IJC8>3.0.CO;2-N","article-title":"BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics","volume":"77","author":"Wagner","year":"1998","journal-title":"Int. J. Cancer"},{"issue":"3","key":"10.1016\/j.mrfmmm.2006.05.006_bib7","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1093\/hmg\/8.3.413","article-title":"Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations","volume":"8","author":"Wagner","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib8","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S1096-7192(02)00228-7","article-title":"DHPLC mutation analysis of phenylketonuria","volume":"78","author":"Brautigam","year":"2003","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib9","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1006\/mgme.1999.2922","article-title":"The structural basis of phenyketonuria","volume":"68","author":"Erlandsen","year":"1999","journal-title":"Mol. Genet. Metabol."},{"issue":"4","key":"10.1016\/j.mrfmmm.2006.05.006_bib10","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1534\/genetics.104.032532","article-title":"The Drosophila U1-70K protein is required for viability, but its arginine-rich domain is dispensable","volume":"168","author":"Salz","year":"2004","journal-title":"Genetics"},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib11","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0083-6729(04)68003-4","article-title":"Nuclear receptor recruitment of histone-modifying enzymes to target gene promoters","volume":"68","author":"Tsai","year":"2004","journal-title":"Vitam. Horm."},{"issue":"10","key":"10.1016\/j.mrfmmm.2006.05.006_bib12","doi-asserted-by":"crossref","first-page":"8912","DOI":"10.1074\/jbc.M409992200","article-title":"A unique sequence motif in the 54-kDa subunit of the chloroplast signal recognition particle mediates binding to the 43-kDa subunit","volume":"280","author":"Funke","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"17","key":"10.1016\/j.mrfmmm.2006.05.006_bib13","doi-asserted-by":"crossref","first-page":"12330","DOI":"10.1016\/S0021-9258(19)49843-8","article-title":"Analysis of the importance of arginine 102 in neutral endopeptidase (enkephalinase) catalysis","volume":"267","author":"Kim","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib14","doi-asserted-by":"crossref","first-page":"R47","DOI":"10.1186\/ar1449","article-title":"The critical role of arginine residues in the binding of human monoclonal antibodies to cardiolipin","volume":"7","author":"Giles","year":"2005","journal-title":"Arthritis. Res. Ther."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib15","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib16","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1086\/301638","article-title":"Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations","volume":"61","author":"Kayaalp","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib17","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/S0065-2660(08)60206-0","article-title":"Molecular genetics of phenylketenuria: from molecular anthropology to gene therapy","volume":"32","author":"Eisensmith","year":"1995","journal-title":"Adv. Genet."},{"issue":"4","key":"10.1016\/j.mrfmmm.2006.05.006_bib18","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/humu.10192","article-title":"Phenyketonuria mutations in Europa","volume":"21","author":"Zschocke","year":"2003","journal-title":"Hum. Mutat."},{"issue":"3\/4","key":"10.1016\/j.mrfmmm.2006.05.006_bib19","first-page":"350","article-title":"The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples","volume":"100","author":"Cali","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib20","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1136\/jmg.30.2.129","article-title":"Mutation analysis in Turkish phenylketanuria patients","volume":"30","author":"Ozguc","year":"1993","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib21","first-page":"851","article-title":"Genetic history of phenylketonuria mutations in Italy","volume":"55","author":"Dianzoni","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib22","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1093\/hmg\/2.10.1703","article-title":"Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninaemia in Southern Europa","volume":"2","author":"Guldberg","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib23","first-page":"95","article-title":"Analysis of the phenylalanine hydroxylase gene in the Spanish population. Mutation profile and association with intragenic polymorphic markers","volume":"60","author":"Perez","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib24","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1136\/jmg.35.4.301","article-title":"Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal","volume":"35","author":"Rivera","year":"1998","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mrfmmm.2006.05.006_bib25","first-page":"7","article-title":"Consanquineous marriages in Turkey and its effects on infant mortality","volume":"9","author":"Ulusoy","year":"1987","journal-title":"Nufusbil Derg."},{"issue":"4","key":"10.1016\/j.mrfmmm.2006.05.006_bib26","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<316::AID-HUMU3>3.0.CO;2-3","article-title":"Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations","volume":"9","author":"Byck","year":"1997","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.mrfmmm.2006.05.006_bib27","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1002\/humu.10205","article-title":"A role for overdominant selection in phenylketonuria? Evidence from molecular data","volume":"21","author":"Krawczak","year":"2003","journal-title":"Hum. Mutat."},{"issue":"9","key":"10.1016\/j.mrfmmm.2006.05.006_bib28","doi-asserted-by":"crossref","first-page":"R215","DOI":"10.1016\/S1074-5521(98)90001-1","article-title":"Rhyme or reason: RNA-arginine interactions and the genetic code","volume":"5","author":"Knight","year":"1998","journal-title":"Chem. Biol."},{"issue":"6","key":"10.1016\/j.mrfmmm.2006.05.006_bib29","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1093\/oxfordjournals.jbchem.a124844","article-title":"Catalytic role of an arginine residue in the highly conserved and unique sequence of phosphoenolpyruvate carboxylase","volume":"117","author":"Yano","year":"1995","journal-title":"J. Biochem. (Tokyo)"}],"container-title":["Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002751070600145X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002751070600145X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T14:08:37Z","timestamp":1764684517000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002751070600145X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":29,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["S002751070600145X"],"URL":"https:\/\/doi.org\/10.1016\/j.mrfmmm.2006.05.006","relation":{},"ISSN":["1386-1964"],"issn-type":[{"type":"print","value":"1386-1964"}],"subject":[],"published":{"date-parts":[[2006,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene","name":"articletitle","label":"Article Title"},{"value":"Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrfmmm.2006.05.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}