Yazar "Gözü, Hülya İliksu" için PubMed İndeksli Yayın Koleksiyonu listeleme
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Cases of Borderline in Vitro Constitutive Thyrotropin Receptor Activity: How to Decide Whether a Thyrotropin Receptor Mutation Is Constitutively Active or Not?
Mueller, Sandra; Gözü, Hülya İliksu; Bircan, Rifat; Jaeschke, Holger; Eszlinger, Markus; Lueblinghoff, Julia; Paschke, Ralf (Mary Ann Liebert, Inc, 2009)Background: Previous in vitro data for several constitutively activating thyrotropin receptor (TSHR) mutations reported divergent results for the constitutive activity of the same mutations. Moreover, several case reports ... -
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism
Gözü, Hülya İliksu; Lueblinghoff, Julia; Bircan, Rifat; Paschke, Ralf (Elsevier Ireland Ltd, 2010)TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH). Up to date 17 constitutively activating TSHR mutations ... -
Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
Gözü, Hülya İliksu; Özçelik, S.; Aloglu, M.; Şahin, A.; Temiz, S.; Dayan, A.; Bircan, Rifat (Funpec-Editora, 2016)The D727E germline polymorphism in the thyroid-stimulating hormone receptor gene (TSHR) may cause genetic susceptibility to the development of goiter. Therefore, in this study we investigated allele frequencies and genotype ... -
Shared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active in Vitro Activities than Familial Thyrotropin Receptor Mutations
Lueblinghoff, Julia; Eszlinger, Markus; Jaeschke, Holger; Mueller, Sandra; Bircan, Rifat; Gözü, Hülya İliksu; Paschke, Ralf (Mary Ann Liebert, Inc, 2011)Background: Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism. Somatic TSHR mutations are associated with toxic ...