Konu "Somatic Mutations" için PubMed İndeksli Yayın Koleksiyonu listeleme
Toplam kayıt 6, listelenen: 1-6
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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?
(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 ... -
High Prevalence of TSHR/Gs alpha Mutation-negative Clonal Hot Thyroid Nodules (HNs) in a Turkish Cohort
(Georg Thieme Verlag Kg, 2011)Whereas the majority of hot thyroid nodules are caused by somatic TSH-receptor mutations, the percentage of TSH-receptor mutation negative clonal hot nodules (HN) and thus the percentage of hot nodules likely caused by ... -
Mitochondrial DNA common deletion is not associated with thyroid, breast and colorectal tumors in Turkish patients
(Soc Brasil Genetica, 2010)Recently, efforts have been focused on mitochondrial DNA changes and their relation to human cancers. Among them, a 4977 bp deletion of mitochondrial DNA, named common deletion, has been investigated in several types of ... -
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 ... -
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 ... -
TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
(Galenos Yayincilik, 2022)An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically ...