TSH Receptor Mutation References
Camacho et al.
Thyroid 10: 1009-1012
A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism.
2000
Calebiro et al.
J Clin Endocrinol Metab 97:156-160.
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia.
2012
Börgel et al.
Horm Res. 64: 203-8
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).
2005
Börgel et al.
Horm Res. 64:203-8
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).
2005
Bretones et al.
Thyroid 11: 977-180
A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene
2001
Blackburn et al.
Case reports in genetics
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
2018
Bircan et al.
Exp Clin Endocrinol Diabetes. 116:341-6
Multiple relapses of hyperthyroidism after thyroid surgeries in a patient with long term follow-up of sporadic non-autoimmune hyperthyroidism.
2008
Bircan et al.
Abstract Book 32nd Annual Meeting of the European Thyroid Association, 01.-05.09.2007 Leipzig.
The Second Follicular Thyroid Carcinoma Presenting as a Hot Nodule with a Somatic I486F TSH-Receptor (TSHR) Gene Mutation
2005
Biebermann et al.
J. Clin. Endocrinol. Metabol. 82: 3471-3480
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
1997
Biebermann et al.
J. Clin. Endocrinol. Metab. 86: 4429-4444
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism
2001
Biebermann et al.
FASEB. J. 12: 1461-1471
A conserved tyrosine residue (Y601) in transmembrane domain 5 of the human thyrotropin receptor serves as a molecular switch to determine G-protein coupling.
1998
Biebermann et al.
Thyroid Res. 3 Suppl 1:8
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
2011
Bieberman et al
J Endocrinol Invest
A NOVEL GERMLINE MUTATION OF THE THYROTROPIN RECEPTOR GENE LEADING TO
FAMILIAL HYPERTHYROIDISM WITH DIFFERENT PENETRANCE
1996
Bertalan et al.
Thyroid. 20:327-32
Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.
2010
Ba?, Veysel Nijat, et al.
Journal of Pediatric Endocrinology and Metabolism
Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
2012
Arturi et al.
J. Endocrinol. Invest. 8: 696-701
Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation.
2002
Arturi et al.
J Endocrinol Invest. 25: 696-701
Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation.
2002
Arseven et al.
Thyroid 10: 3-10
Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11
2000
Alves et al.
J Pediatr Endocrinol Metab 23:1321-1328.
High frequen-cy of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism.
2010
Alberti et al.
J. Clin. Endocrinol. Metab. 87: 2549-2555
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism
2002
Alberti et al.
Eur. J. Endocrinol. 145: 249-254
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism
2001
Alberti et al.
Eur J Endocrinol. 145: 249-54
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.
2001
Akcurin et al.
Eur J Pediatr. 167: 1231-7
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
2008
Agretti et al.
Eur J Biochem 270:3839-3847
Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor.
2003
Agretti et al.
Eur J Pediatr
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene
2012
Agretti et al.
Clinical endocrinology
Prevalence of activating thyrotropin receptor and gsa gene mutations in paediatric thyroid toxic adenomas: a multicentric italian study
2013
Abramowicz et al.
J. Clin. Invest. 99: 3018-3024
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
1997