Yazar "Paschke, Ralf" için Fen Edebiyat Fakültesi 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 ... -
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas
Calebiro, Davide; Grassi, Elisa S.; Eszlinger, Markus; Ronchi, Cristina L.; Godbole, Amod; Bathon, Kerstin; Paschke, Ralf; Bircan, Rifat (Amer Soc Clinical Investigation Inc, 2016)Autonomous thyroid adenomas (ATAs) are a frequent cause of hyperthyroidism. Mutations in the genes encoding the TSH receptor (TSHR) or the Gs protein alpha subunit (GNAS) are found in approximately 70% of ATAs. The involvement ... -
Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules
Stephenson, Alexandra; Eszlinger, Markus; Stewardson, Paul; McIntyre, John B.; Boesenberg, Eileen; Bircan, Rifat; Paschke, Ralf (Mary Ann Liebert, Inc, 2020)Background: Constitutively activating mutations in the thyrotropin receptor (TSHR) and the guanine nucleotide-binding protein G subunit alpha (GNAS) are the primary cause of hot thyroid nodules (HTNs). The reported prevalence ... -
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 ...