TSHR Gene

2020 ◽  
Author(s):  
Keyword(s):  
Tshr Gene

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

2014 ◽  
Vol 27 (9-10) ◽  
Author(s):  
Hakan Cangul ◽  
Halil Saglam ◽  
Yaman Saglam ◽  
Erdal Eren ◽  
Durmus Dogan ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Thyroid Dysgenesis ◽  
Tshr Gene

Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Erik Artur Cortinhas Alves ◽  
Raissa Coelho Andrade ◽  
Carlos Eduardo de Melo Amaral ◽  
Milena Coelho Fernandes Caldato ◽  
Adriana Maria Rocha Bastos ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Peripheral Blood ◽  
Genomic Dna ◽  
Gene Mutations ◽  
Molecular Heterogeneity ◽  
Coding Region ◽  
Blood Samples ◽  
Live Births ◽  
Tshr Gene ◽  
Inactivating Mutations

AbstractPrimary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000–4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already been described in the coding region of the tshr gene. The aim of present study was to investigate tshr gene mutations in patients with primary congenital hypothyroidism, analyzing a sample of 106 patients that were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSH receptor were automatically sequenced. Five nucleotide alterations (P52T, N187N, A459A, L645L, and D727E. N187N and D727E polymorphisms) were associated with positive medical history. In view of the clinical, biochemical and molecular heterogeneity of the etiology of the PCH, the study of polymorphisms is critical for investigating the possible associations with prevailing symptoms of this disorder.

scholarly journals Role of the cAMP and MAPK pathways in the transformation of mouse 3T3 fibroblasts by a TSHR gene constitutively activated by point mutation

Oncogene ◽  
2000 ◽  
Vol 19 (42) ◽  
pp. 4896-4905 ◽  
Author(s):  
J A Du Villard ◽  
R Wicker ◽  
P Crespo ◽  
D Russo ◽  
S Filetti ◽  
...  
Keyword(s):  
Point Mutation ◽  
Mapk Pathways ◽  
3T3 Fibroblasts ◽  
Tshr Gene

Association between TSHR gene methylation and papillary thyroid cancer: a meta-analysis

Endocrine ◽  
2020 ◽  
Vol 69 (3) ◽  
pp. 508-515
Author(s):  
Mengying Qu ◽  
Siyuan Wan ◽  
Bingxuan Ren ◽  
Huaiyong Wu ◽  
Lixiang Liu ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Meta Analysis ◽  
Papillary Thyroid ◽  
Gene Methylation ◽  
Tshr Gene

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation

2012 ◽  
Vol 25 (11-12) ◽  
Author(s):  
Veysel Nijat Baş ◽  
Hakan Cangul ◽  
Sebahat Yilmaz Agladioglu ◽  
Michaela Kendall ◽  
Semra Cetinkaya ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Primary Hypothyroidism ◽  
Thyrotropin Receptor ◽  
Tshr Gene

scholarly journals Association of the TSHR gene with Graves' disease: the first disease specific locus

2005 ◽  
Vol 13 (11) ◽  
pp. 1223-1230 ◽  
Author(s):  
Bryan M Dechairo ◽  
Delilah Zabaneh ◽  
Joanne Collins ◽  
Oliver Brand ◽  
Gary J Dawson ◽  
...  
Keyword(s):  
Graves Disease ◽  
Specific Locus ◽  
Tshr Gene ◽  
Disease Specific

scholarly journals Overexpression of thyroid hormone receptor beta1 is associated with thyrotropin receptor gene expression and proliferation in a human thyroid carcinoma cell line

2000 ◽  
Vol 165 (2) ◽  
pp. 379-389 ◽  
Author(s):  
ST Chen ◽  
HY Shieh ◽  
JD Lin ◽  
KS Chang ◽  
KH Lin
Keyword(s):  
Gene Expression ◽  
Transcription Factor ◽  
Thyroid Hormone ◽  
Cell Line ◽  
Cell Lines ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Human Thyroid ◽  
Thyrotropin Receptor ◽  
Tshr Gene

To correlate the differentiation phenotype of two human thyroid cancer cell lines with their expression of various molecular markers, we analyzed the mRNA levels of four thyroid-specific genes, including thyrotropin receptor (TSHR), thyroglobulin (Tg), thyroid transcription factor-1 (TTF-1), and paired-box containing transcription factor-8 (PAX-8) genes. The results showed a differentiation-status-related pattern in which a well-differentiated cell line (WRO) expressed all the four genes, in contrast to an anaplastic cell line (ARO) that expressed TTF-1 and reduced levels of TSHR, but no Tg or PAX-8 genes. Furthermore, to verify the finding of concomitant loss of beta subtype thyroid hormone receptor (TRbeta) and TSHR gene expression in neoplastic thyroid tumors (Bronnegard et al. 1994), we examined the expression levels of TRbeta1 gene in these cell lines. Whereas the WRO cells produced an abundant amount of TRbeta1 protein detectable by immunoprecipitation, the ARO cells produced none. This new observation prompted us to investigate whether overexpression of TRbeta1 protein in ARO cells might produce changes in the differentiation phenotypes. We found that the level of expression of the TSHR gene and the proliferative index of ARO cells were significantly upregulated in the cells stably transfected with wild-type TRbeta1. These findings suggest that TRbeta1 protein overexpression can affect the differentiation phenotypes and induce more efficient cell proliferation of the anaplastic ARO cells.

scholarly journals Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 196
Author(s):  
Jasna Suput Omladic ◽  
Maja Pajek ◽  
Urh Groselj ◽  
Katarina Trebusak Podkrajsek ◽  
Magdalena Avbelj Stefanija ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Thyroid Stimulating Hormone ◽  
Ablation Therapy ◽  
Tsh Secretion ◽  
Tshr Gene ◽  
Adult Male Patient ◽  
Stimulating Hormone

Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activating TSHR variants demonstrated the same classical signs and symptoms of hyperthyroidism as seen in patients with Graves’ disease. Since 2012, ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences. Case Presentation. We presented a young adult male patient with a novel heterozygous TSHR disease-causing variant p.Arg418Lys (c.1253G>A) in the exon 10, who presented with a mild but progressive FNAH, with a follow-up since infancy. Discussion. Constantly suppressed TSH, including during the euthyreosis in childhood and hypothyreosis after iodine ablation therapy, suggested central dysregulation of the TSH secretion.

Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31

Genomics ◽  
1990 ◽  
Vol 8 (2) ◽  
pp. 233-236 ◽  
Author(s):  
M.F. Rousseau-Merck ◽  
M. Misrahi ◽  
H. Loosfelt ◽  
M. Atger ◽  
E. Milgrom ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Thyroid Stimulating Hormone ◽  
Human Thyroid ◽  
Tshr Gene ◽  
Stimulating Hormone
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