Ara
Toplam kayıt 25, listelenen: 11-20
siRNA mediated downregulation of LETM1 results in decreased expression of OPA1
(Wiley-Blackwell, 2015)
[No Abstract Available]
Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules
(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 ...
Two siblings with familial subclinical hyperthyroidism with unknown etiology
(2017)
Subclinical hyperthyroidism is defined as low or undetectable concentration of serum thyrotrophin (TSH) with normal free triiodothyronine (FT3) and free thyroxine (FT4) levels. 1). Familial subclinical hyperthyroidism is ...
Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
(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 ...
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas
(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 ...
Screening of the BRAF V600E mutation prevalance at papillary thyroid carcinomas (PTCs) in Turkish population
(Nature Publishing Group, 2018)
[No Abstract Available]
Thyroid Hormone Resistance Beta: Eighteen Pediatric Patient Experience
(Karger, 2018)
[No Abstract Available]
Does the mitochondrial genome much more stabile in the aggressive papillary thyroid cancers ('PTCs)? - the preliminary findings
(Wiley, 2018)
[No Abstract Available]
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism
(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 ...
Cases of Borderline in Vitro Constitutive Thyrotropin Receptor Activity: How to Decide Whether a Thyrotropin Receptor Mutation Is Constitutively Active or Not?
(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 ...