ORCID "0000-0001-5291-8620" Scopus İndeksli Yayınlar Koleksiyonu için listeleme
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9 Years Follow-up of a Patient with Pituitary Form of Resistance to Thyroid Hormones (PRTH): Comparison of Two Treatment Periods of D-Thyroxine and Triiodothyroacetic Acid (TRIAC)
Güran, Tülay; Turan, Serap; Bircan, Rifat; Bereket, Abdullah (Walter De Gruyter Gmbh, 2009)Patients with pituitary resistance to thyroid hormones (PRTH) exhibit features of hyperthyroidism due to normal sensitivity to thyroid hormones in some of the peripheral tissues. There is a lack of information in the ... -
Alopecia: Association with Resistance to Thyroid Hormones
Güran, Tülay; Bircan, Rifat; Turan, Serap; Bereket, Abdullah (Freund Publishing House Ltd, 2009)Resistance to thyroid hormone (RTH) syndrome is caused by thyroid hormone beta receptor (TR beta) mutations. Goiter, learning disabilities, psychological abnormalities, sinus tachycardia, hearing deficits, short stature, ... -
Angiotensin Converting Enzyme Gene Polymorphism in Turkish Asthmatic Patients
Eryuksel, Emel; Ceyhan, Berrin Bagci; Bircan, Rifat; Avşar, Melike; Çirakoğlu, Beyazıt (Taylor & Francis Inc, 2009)Asthma is a chronic inflammatory disease of the airways. Several candidate genes have been identified with a potential role in the pathogenesis of asthma, including the angiotensin converting enzyme (ACE) gene. We aimed ... -
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 ... -
Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing
Aral, Cenk; Demirkesen, Seyma; Bircan, Rifat; Yasar Şirin, Duygu (Wiley, 2020)LETM1 is a mitochondrial inner-membrane protein, which is encoded by a gene present in a locus of 4p, which, in turn, is deleted in the Wolf-Hirschhorn Syndrome, and is assumed to be related to its pathogenesis. The cellular ... -
MTHFR, prothrombin and Factor V gene variants in Turkish patients with coronary artery stenosis
Caner, Müge; Bircan, Rifat; Sevinc, Deniz; Benli, Fehime; Guney, A. Ilter; Kurtoglu, Nuri (Soc Brasil Genetica, 2008)Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase chain reaction and restriction fragment length polymorphism ... -
A Novel Mutation in the MC2R Gene Causing Familial Glucocorticoid Deficiency Type 1
Akın, Mustafa Ali; Akın, Leyla; Çoban, Dilek; Öztürk, Mehmet Adnan; Bircan, Rıfat; Kurtoğlu, Selim (Karger, 2011)Familial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid ... -
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 ... -
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 ...