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Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.
Dossena S, Vezzoli V, Cerutti N, Bazzini C, Tosco M, Sironi C, Rodighiero S, Meyer G, Fascio U, Fürst J, Ritter M, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Bottà G, Paulmichl M. Dossena S, et al. Cell Physiol Biochem. 2006;17(5-6):245-56. doi: 10.1159/000094137. Epub 2006 Jun 20. Cell Physiol Biochem. 2006. PMID: 16791000 Free article.
Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity.
Dossena S, Rodighiero S, Vezzoli V, Bazzini C, Sironi C, Meyer G, Fürst J, Ritter M, Garavaglia ML, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Bottá G, Paulmichl M. Dossena S, et al. Cell Physiol Biochem. 2006;18(1-3):67-74. doi: 10.1159/000095164. Epub 2006 Aug 15. Cell Physiol Biochem. 2006. PMID: 16914891 Free article.
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.
Fugazzola L, Cirello V, Dossena S, Rodighiero S, Muzza M, Castorina P, Lalatta F, Ambrosetti U, Beck-Peccoz P, Bottà G, Paulmichl M. Fugazzola L, et al. Among authors: dossena s. Eur J Endocrinol. 2007 Sep;157(3):331-8. doi: 10.1530/EJE-07-0263. Eur J Endocrinol. 2007. PMID: 17766716
Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.
Dror AA, Politi Y, Shahin H, Lenz DR, Dossena S, Nofziger C, Fuchs H, Hrabé de Angelis M, Paulmichl M, Weiner S, Avraham KB. Dror AA, et al. Among authors: dossena s. J Biol Chem. 2010 Jul 9;285(28):21724-35. doi: 10.1074/jbc.M110.120188. Epub 2010 May 4. J Biol Chem. 2010. PMID: 20442411 Free PMC article.
85 results