{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T04:16:59Z","timestamp":1728361019225},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2005,2,9]],"date-time":"2005-02-09T00:00:00Z","timestamp":1107907200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"},{"start":{"date-parts":[[2005,2,9]],"date-time":"2005-02-09T00:00:00Z","timestamp":1107907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Negat Results BioMed"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                        <jats:title>Background<\/jats:title>\n                        <jats:p>Wegener Granulomatosis (WG) is a multifactorial disease of yet unknown aetiology characterized by granulomata of the respiratory tract and systemic necrotizing vasculitis. Analyses of candidate genes revealed several associations, <jats:italic>e.g.<\/jats:italic> with <jats:italic>\u03b1<\/jats:italic>(1)-antitrypsin, proteinase 3 and with the <jats:italic>HLA-DPB1<\/jats:italic> locus. A mutation in the abnormal limb mutant 5 (ALI5) mouse in the region coding for the hydrophobic ridge loop 3 (HRL3) of the <jats:italic>phospholipaseC\u03b32<\/jats:italic> (<jats:italic>PLC\u03b3-2<\/jats:italic>) gene, corresponding to human <jats:italic>PLC\u03b3<\/jats:italic>-2 exon 27, leads to acute and chronic inflammation and granulomatosis. For that reason, we screened exons 11, 12 and 13 coding for the hydrophobic ridge loop 1 and 2 (HRL1 and 2, respectively) and exon 27 of the PLC\u03b3-2 protein by single strand conformation polymorphism (SSCP), sequencing and PCR\/ restriction fragment length polymorphism (RFLP) analyses. In addition, we screened indirectly for disease association via 4 microsatellites with pooled DNA in the <jats:italic>PLC\u03b3<\/jats:italic>-2 gene.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>Although a few polymorphisms in these distinct exons were observed, significant differences in allele frequencies were not identified between WG patients and respective controls. In addition, the microsatellite analyses did not reveal a significant difference between our patient and control cohort.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusion<\/jats:title>\n                        <jats:p>This report does not reveal any hints for an involvement of the <jats:italic>PLC\u03b3<\/jats:italic>-2 gene in the pathogenesis of WG in our case-control study.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/1477-5751-4-1","type":"journal-article","created":{"date-parts":[[2005,2,10]],"date-time":"2005-02-10T07:29:00Z","timestamp":1108020540000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association study with Wegener granulomatosis of the human phospholipase C\u03b32 gene"],"prefix":"10.1186","volume":"4","author":[{"given":"Peter","family":"Jagiello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Csernok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang L","family":"Gross","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joerg T","family":"Epplen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,2,9]]},"reference":[{"key":"14_CR1","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s00059-004-2525-0","volume":"29","author":"P Lamprecht","year":"2004","unstructured":"Lamprecht P, Gross WL: Wegener's granulomatosis. 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