Prevalence of activating thyrotropin receptor and Gsα gene mutations in paediatric thyroid toxic adenomas: a multicentric Italian study

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
P. Agretti ◽  
M. Segni ◽  
G. De Marco ◽  
E. Ferrarini ◽  
C. Di Cosmo ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Thyrotropin Receptor ◽  
Italian Study ◽  
Gsα Gene

Feline Thyroid Adenomas are in Part Associated with Mutations in the Gsα Gene and not with Polymorphisms Found in the Thyrotropin Receptor

Thyroid ◽  
2002 ◽  
Vol 12 (7) ◽  
pp. 571-575 ◽  
Author(s):  
Marijke E. Peeters ◽  
Elpetra P.M. Timmermans-Sprang ◽  
Jan A. Mol
Keyword(s):  
Thyrotropin Receptor ◽  
Gsα Gene ◽  
Thyroid Adenomas

Gsα gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma

2001 ◽  
Vol 439 (2) ◽  
pp. 170-175 ◽  
Author(s):  
K. Pollandt ◽  
C. Engels ◽  
E. Kaiser ◽  
M. Werner ◽  
G. Delling
Keyword(s):  
Fibrous Dysplasia ◽  
Gene Mutations ◽  
Low Grade ◽  
Gsα Gene ◽  
Fibrous Dysplasia Of Bone

No Evidence of Thyrotropin Receptor and GSα Gene Mutation in High Iodine Uptake Thyroid Carcinoma

Thyroid ◽  
2000 ◽  
Vol 10 (9) ◽  
pp. 761-765 ◽  
Author(s):  
I. Bourasseau ◽  
F. Savagner ◽  
P. Rodien ◽  
M. Duquenne ◽  
P. Reynier ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Gene Mutation ◽  
Iodine Uptake ◽  
Thyrotropin Receptor ◽  
High Iodine ◽  
Gsα Gene

scholarly journals The Coexistence of a Novel Inactivating Mutant Thyrotropin Receptor Allele with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation

2011 ◽  
Vol 96 (6) ◽  
pp. E1001-E1006 ◽  
Author(s):  
Chutintorn Sriphrapradang ◽  
Yardena Tenenbaum-Rakover ◽  
Mia Weiss ◽  
Marla S. Barkoff ◽  
Osnat Admoni ◽  
...  
Keyword(s):  
Clinical Investigation ◽  
Gene Mutations ◽  
Structure And Function ◽  
Compound Heterozygote ◽  
Thyroid Peroxidase ◽  
Thyrotropin Receptor ◽  
Loss Of Function ◽  
Phenotype Correlation ◽  
And Function

Context: TSH receptor (TSHR) and thyroid peroxidase (TPO) gene mutations occur independently. This is the first report of their coexistence in the same individuals. Objectives: The objective of the study was to evaluate the genotype-phenotype correlations when mutations in both genes are present alone or together in the same individual. Patients and Methods: Thirty subjects from an extended Arab kindred underwent clinical investigation and molecular studies of the mutant TSHRs. Results: A novel mutant TSHR was identified, involving four nucleotides at three sites on the same allele, c.267G>T (L89L), c.269/270AG>CT (Q90P), and c.790C>T (P264S). In addition, two known TPO gene mutations, G493S and R540X, were identified. Thirteen heterozygotes for the mutant TSHR allele had mild hyperthyrotropinemia. In nine of theses, the coexistence of a TPO mutation in one allele did not magnify the hyperthyrotropinemia. Homozygotes for the mutant TSHR and a compound heterozygote for the TPO mutations presented frank hypothyroidism. In vitro studies showed increasing loss of function for Q90P less than P264S less than Q90P/P264S TSHR mutants, the latter being that expressed in the subjects under investigation. The two interchangeably used WT TSHR vectors, L87 and V87, although functionally identical, differed in structure and function in the presence of the Q90P mutation. Conclusions: TSHR and TPO gene mutations were identified alone and together in individuals of a consanguineous kindred. Homozygotes for the TSHR and a compound heterozygote for the TPO mutations were hypothyroid. The mild hyperthyrotropinemia of heterozygotes for the mutant TSHR allele was not aggravated by the coexistence of a TPO defect in one allele.

Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes

2005 ◽  
Vol 63 (2) ◽  
pp. 146-151 ◽  
Author(s):  
Marta Camilot ◽  
Francesca Teofoli ◽  
Alberto Gandini ◽  
Roberto Franceschi ◽  
Anna Rapa ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Gene Mutations ◽  
Thyrotropin Receptor ◽  
Variable Expressivity

scholarly journals Identification of Constitutively Activating Somatic Thyrotropin Receptor Mutations in a Subset of Toxic Multinodular Goiters1

1997 ◽  
Vol 82 (12) ◽  
pp. 4229-4233 ◽  
Author(s):  
Hans-Peter Holzapfel ◽  
Dagmar Führer ◽  
Peter Wonerow ◽  
Gerhard Weinland ◽  
Werner A. Scherbaum ◽  
...  
Keyword(s):  
Multinodular Goiter ◽  
The Other ◽  
Tsh Receptor ◽  
Surrounding Tissue ◽  
Additional Patient ◽  
Thyrotropin Receptor ◽  
Activating Mutations ◽  
Gsα Gene ◽  
Toxic Multinodular Goiter ◽  
Tshr Gene

Constitutively activating mutations in the TSH receptor (TSHR) gene and in the Gsα gene are frequent molecular causes for solitary toxic nodules of the thyroid. However, the etiology of toxic multinodular goiter is still largely unknown. Therefore, DNA from nodular and quiescent surrounding tissue of six patients with toxic multinodular goiters was screened for mutations in exons 9 and 10 of the TSHR gene and exons 7–10 of the Gsα gene by direct automated sequencing. In one patient, two different somatic TSHR mutations were identified in two different toxic nodules (L632I and F631L). In another patient, two different toxic nodules harbored the same TSHR mutation (I630L), whereas only one TSHR mutation (F631L) was identified in one of the two toxic nodules of an additional patient. In the other three patients, no mutations could be found in exons 9 and 10 of the TSHR gene or in exons 7–10 of the Gsα gene. Our results demonstrate that not only solitary toxic adenomas but also toxic multinodular goiters can be caused by constitutively activating mutations of the TSHR. In addition to mutations in the TSHR and possibly in Gsα, there are probably other still unknown mechanisms that cause hot nodules in toxic multinodular goiters.

WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A110-A110
Author(s):  
McTaggart Sj ◽  
Algar E ◽  
Chow Cw ◽  
Powell Hr ◽  
Jones CL.
Keyword(s):  
Gene Mutations ◽  
Wt1 Gene ◽  
Frasier Syndrome

1068: TP53 Gene Mutations as a Prognostic Marker for PSA Progression in Early Stage Prostate Cancer

2004 ◽  
Vol 171 (4S) ◽  
pp. 282-282
Author(s):  
Markus D. Sachs ◽  
Horst Schlechte ◽  
Katrin Schiemenz ◽  
Severin V. Lenk ◽  
Dietmar Schnorr ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prognostic Marker ◽  
Early Stage ◽  
Gene Mutations ◽  
Tp53 Gene ◽  
Psa Progression ◽  
Tp53 Gene Mutations
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