{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T19:41:31Z","timestamp":1785267691665,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,18]],"date-time":"2018-11-18T00:00:00Z","timestamp":1542499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/17034\u20105"],"award-info":[{"award-number":["2013\/17034\u20105"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2019,2]]},"abstract":"Abstract<\/jats:title>The aim of our study was to determine regions of loss of heterozygosity, copy number variation analysis, and single nucleotide polymorphisms (SNP<\/jats:styled-content>s) in Brazilian patients with cystinuria. A linkage study was performed using DNA<\/jats:styled-content> samples from six patients with cystinuria and six healthy individuals. Genotyping was done with the Genome\u2010Wide Human SNP<\/jats:styled-content> 6.0 arrays (Affymetrix, Inc., Santa Clara, CA<\/jats:styled-content>, USA<\/jats:styled-content>). For validation, SNP<\/jats:styled-content>s were genotyped using a TaqMan\u00ae<\/jats:sup> SNP<\/jats:styled-content> Genotyping Assay Kit. The homozygote polymorphic genotype of SNP<\/jats:styled-content> rs17383719 in the gene PBX<\/jats:styled-content>1 was more frequent (P<\/jats:italic> = 0.015) in cystinuric patients. The presence of the polymorphic allele for\u00a0this SNP<\/jats:styled-content> increased the chance of cystinuria by 3.0\u2010fold (P<\/jats:italic> = 0.036). Pre\u2010B\u2010cell leukaemia transcription factor 1 (PBX<\/jats:styled-content>1) was overexpressed 3.3\u2010fold in patients with cystinuria. However, when we compared the gene expression findings with the genotyping, patients with a polymorphic homozygote genotype had underexpression of PBX<\/jats:styled-content>1, while patients with a heterozygote or wild\u2010type homozygote genotype had overexpression of PBX<\/jats:styled-content>1. There is a 3\u2010fold increase in the risk of the development of cystinuria among individuals with this particular SNP<\/jats:styled-content> in the PBX<\/jats:styled-content>1<\/jats:italic> gene. We postulate that the presence of this SNP<\/jats:styled-content> alters the expression of PBX<\/jats:styled-content>1, thus affecting the renal absorption of cystine and other amino acids, predisposing to nephrolithiasis.<\/jats:p>","DOI":"10.1111\/jcmm.13981","type":"journal-article","created":{"date-parts":[[2018,11,19]],"date-time":"2018-11-19T02:14:16Z","timestamp":1542593656000},"page":"1593-1597","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Polymorphism in the PBX<\/scp>1 gene is related to cystinuria in Brazilian families"],"prefix":"10.1111","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3564-3597","authenticated-orcid":false,"given":"Sabrina T.","family":"Reis","sequence":"first","affiliation":[{"name":"Laboratory of Medical Investigation (LIM55) Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"},{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia R. M.","family":"Leite","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Investigation (LIM55) Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni S.","family":"Marchini","sequence":"additional","affiliation":[{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronaldo M.","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4505-8508","authenticated-orcid":false,"given":"Nayara I.","family":"Viana","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Investigation (LIM55) Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruan C. A.","family":"Pimenta","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Investigation (LIM55) Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio C.","family":"Torricelli","sequence":"additional","affiliation":[{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Danilovic","sequence":"additional","affiliation":[{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e1bio Carvalho","family":"Vicentini","sequence":"additional","affiliation":[{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William Carlos","family":"Nahas","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Investigation (LIM55) Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Srougi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Investigation (LIM55) Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Mazzucchi","sequence":"additional","affiliation":[{"name":"Endourology and Stone Disease Section Division of Urology University of Sao Paulo Medical School Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.69"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-19"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00240-015-0794-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2002.00602.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000029586.17680.E5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2958"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02168"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/35057149"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10235"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-3-2-195"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-018-4269-6"},{"key":"e_1_2_7_13_1","first-page":"138","article-title":"A novel mutation in SLC7A9 gene in cystinuria","volume":"11","author":"Fazaeli S","year":"2017","journal-title":"Iran J Kidney Dis"},{"key":"e_1_2_7_14_1","first-page":"44","article-title":"A novel mutation in SLC3A1 gene in patients with cystinuria","volume":"10","author":"Markazi S","year":"2016","journal-title":"Iran J Kidney Dis"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.416842"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.100032"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjcmm.13981","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.13981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T08:22:25Z","timestamp":1694679745000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.13981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,18]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1111\/jcmm.13981"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.13981","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,18]]},"assertion":[{"value":"2018-07-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}