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Most relevant scientific articles
• Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants . ro- manos J, rosén a, Kumar V, trynKa G, FranKe l, szperl a, Gutierrez-acHury J, Van Diemen cc, KanninGa r, JanKipersaDsinG sa, stecK a, eisenbartH G, Van Heel Da, cuKroWsKa b, bruno V, mazzilli mc, núñez c, bilbao Jr, mearin ml, barisani D, reWers m, norris Jm, iVarsson a, boezen Hm, liu e, WiJmenGa c . Gut; 2014 Mar . 63(3):415-22; PMID: 23704318 Doi: 10 .1136/gutjnl-2012-304110 .
• RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation . . ValDés n, naVarro e, mesa J, casterás a, alcázar V, lamas c, tébar J, castaño l, GaztambiDe s, ForGa llenas l . Eur J Endocrinol; 2014 Dec 16 . [Epub ahead of print]; . PMID: 25515555 Doi: 10 .1530/EJE-14-0818 . .
• Hydrolyzed infant formula and early ß-cell autoimmunity: a randomized clinical trial . . Knip m, ÅKerblom HK, becKer D, DoscH Hm, Dupre J, Fraser W, HoWarD n, ilonen J, KriscHer Jp, KorDonouri o, laWson ml, palmer Jp, saVilaHti e, Vaarala o, Virtanen sm . JAMA; 2014 Jun 11 . 311(22):2279-87; . PMID: 24915259 Doi: 10 .1001/jama .2014 .5610 . .
• Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing . bonneFonD a, pHilippe J, DuranD e, muller J, saeeD s, arslan m, martínez r, De GraeVe F, DHennin V, rabeariVelo i, polaK m, caVé H, castaño l, Vaxi- llaire m, manDel Jl, sanD o, FroGuel p . Diabetes Care; 2014 Feb . 37(2):460-7; . PMID: 24041679 Doi: 10 .2337/dc13-0698 .
• Coregulation and modulation of NF?B-related genes in celiac disease: uncovered aspects of gut mu- cosal inflammation . . FernanDez-Jiménez n, castellanos-rubio a, plaza-izurieta l, irastorza i, elcoroaristizabal x, JaureGi-miGuel a, lopez-euba t, tutau c, De pancorbo mm, Vitoria Jc, bilbao Jr . Hum Mol Genet; 2014 Mar 1 . 23(5):1298-310; . PMID: 24163129 Doi: 10 .1093/hmg/ddt520 .
Highlights
Institution: Asociación Instituto de Investigación Sanitaria de Biocruces Contact: Hospital Universitario de Cruces · Pl . de Cruces, s/n . 48903 Barakaldo . Vizcaya Phone: (+34) 946 006 473 · E .mail: lcastano@osakidetza .net
• Participation in the RENALTUBE Project (www.renaltube.com). “Maintenance, extension and impro- vement of RENALTUBE, clinical and molecular characterization system for renal Tubulopathies” . ISCIII -PI11/01412 (2012-2014) . Researchers: G Ariceta (IP), Castano L .
• Development of projects related to molecular characterization of monogenic diabetes (Basque Educa- tion Department GV IT795-13 and Basque Health Department GV 2010111185) .
• Global prevalence of vitamin D levels of Gohierri-Urola-Gipuzkoa region in children. (Basque Health Department (2011111107), 2012-2015) . Researchers: Elizabeth Blarduni, Castano L .
• Molecular characterization of hyperinsulinism, gonadal dysgenesis, pseudohypoparathyroidism and other endocrine diseases (Basque Education Department GV, IT795-13 (2013-2018) . Researchers: Castano L (IP), Vitoria JC, Gaztambide S, Bilbao JR, Ariceta G, Vázque F) .
• Participation in projects for the genetic characterization of celiac disease. “Functional characteriza- tion of the genomic regions associated with the risk of celiac disease in cells in the intestinal mu- cosa” (ISCIII-MICINN PI13/01201, 2014-2016); “Functional study of candidate genes for celiac di- sease and its potential application as a diagnostic tool .” (Basque Government Health Department (2011111034), 2013-2015); “Systems Biology of autoimmunity . Celiac disease as a model” (ISCIII- MICINN PI10/00310, 2011-2014) .
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