{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:16:34Z","timestamp":1791288994290,"version":"4.3.0"},"reference-count":20,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,1,7]]},"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Cystinosis is an autosomal recessive disease characterised by the abnormal accumulation of lysosomal cystine. Mutations in the cystinosin gene (<jats:italic>CTNS<\/jats:italic>) represent known causes for the disease. The major cystinosis mutation is a 57\u2005kb deletion on human chromosome 17p13 that removes the majority of <jats:italic>CTNS<\/jats:italic> and the entire adjacent gene, <jats:italic>CARKL<\/jats:italic>\/<jats:italic>SHPK<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>In order to identify other genes that may influence the cystinosis pathobiological pathway, peripheral blood mononuclear cells (PBMC) were collected from cystinosis family members, and DNA and RNA extracted.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Using whole genome transcriptional profiling, <jats:underline>t<\/jats:underline>ransient <jats:underline>r<\/jats:underline>eceptor <jats:underline>p<\/jats:underline>otential <jats:underline>v<\/jats:underline>anilloid 1 (<jats:italic>TRPV1<\/jats:italic>) was found to be differentially expressed in association with cystinosis. This was verified using TaqMan qRT-PCR. There was a 72% reduction in PBMC <jats:italic>TRPV1<\/jats:italic> mRNA levels in cystinosis individuals homozygous for the 57\u2005kb deletion (n=6) compared to unaffected individuals without the deletion (n=6) (p=0.002). TRPV1 is a sensory receptor located on chromosome 17p13, adjacent to <jats:italic>CARKL\/SHPK<\/jats:italic>. It was ascertained that the 57\u2005kb deletion extends from exon 10 of <jats:italic>CTNS<\/jats:italic>, upstream through <jats:italic>CARKL\/SHPK<\/jats:italic>, to intron 2 of <jats:italic>TRPV1<\/jats:italic>, thus deleting the first two non-coding exons.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This is the first study to report that the 57\u2005kb deletion extends into the <jats:italic>TRPV1<\/jats:italic> gene causing dysregulation of transcription in PBMC isolated from cystinosis patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.083303","type":"journal-article","created":{"date-parts":[[2011,5,5]],"date-time":"2011-05-05T22:39:11Z","timestamp":1304635151000},"page":"563-566","source":"Crossref","is-referenced-by-count":17,"title":["The 57\u2005kb deletion in cystinosis patients extends into <i>TRPV1<\/i> causing dysregulation of transcription in peripheral blood mononuclear cells"],"prefix":"10.1136","volume":"48","author":[{"given":"Katy A","family":"Freed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Blangero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Howard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew P","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne E","family":"Curran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne R","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Chang","family":"Lan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna E","family":"Abboud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric K","family":"Moses","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,5,5]]},"reference":[{"key":"2025100521454395000_48.8.563.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra020552"},{"key":"2025100521454395000_48.8.563.2","first-page":"582","article-title":"Survival time in cystinosis. A collaborative study","volume":"19","author":"Gretz","year":"1983","journal-title":"Proc Eur Dial Transplant Assoc"},{"key":"2025100521454395000_48.8.563.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0650-8"},{"key":"2025100521454395000_48.8.563.4","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0695-246","article-title":"Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group","volume":"10","year":"1995","journal-title":"Nat Genet"},{"key":"2025100521454395000_48.8.563.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0498-319"},{"key":"2025100521454395000_48.8.563.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1502-5"},{"key":"2025100521454395000_48.8.563.7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10141"},{"key":"2025100521454395000_48.8.563.8","doi-asserted-by":"publisher","DOI":"10.1086\/302118"},{"key":"2025100521454395000_48.8.563.9","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.165"},{"key":"2025100521454395000_48.8.563.10","doi-asserted-by":"publisher","DOI":"10.1086\/302509"},{"key":"2025100521454395000_48.8.563.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2009.10.005"},{"key":"2025100521454395000_48.8.563.12","doi-asserted-by":"publisher","DOI":"10.1126\/science.288.5464.306"},{"key":"2025100521454395000_48.8.563.13","first-page":"1","article-title":"Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene","volume":"0","author":"Wamelink","year":"2008","journal-title":"Hum Mutat"},{"key":"2025100521454395000_48.8.563.14","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3303-06.2007"},{"key":"2025100521454395000_48.8.563.15","doi-asserted-by":"publisher","DOI":"10.1093\/chemse\/bjl024"},{"key":"2025100521454395000_48.8.563.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.02.062"},{"key":"2025100521454395000_48.8.563.17","first-page":"307","article-title":"Growth retardation in children with cystinosis","volume":"62","author":"Besouw","year":"2010","journal-title":"Minerva Pediatr"},{"key":"2025100521454395000_48.8.563.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2006.10.046"},{"key":"2025100521454395000_48.8.563.19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.04363.x"},{"key":"2025100521454395000_48.8.563.20","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115623"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2010.083303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:45:48Z","timestamp":1759725948000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2010.083303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,5]]},"references-count":20,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2011,7,21]]},"published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1136\/jmg.2010.083303"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2010.083303","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,5]]}}}