TSH Receptor Mutation References
Ho et al.
Mol Cell Endocrinol 245:158-168
Cysteine 390 mutation of the TSH receptor modulates its ectodomain as an inverse agonist on the serpentine domain with decrease in basal constitutive activity.
2005
Gözu et al.
Thyroid. 14:975-80
Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma?
2004
Guemas et al.
Hormone Research (supplement)
Hyperthyroidism due to an activation mutation of the thyrotropin receptor
2003
Gu WX et al.
Endocrinology 136: 3146-3153
The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding.
1995
Grüters et al.
J. Clin. Endocrinol. Metab. 83: 1431-1436
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor
1998
Grob et al.
Hormone research in pediatrics
Autonomous adenomas caused by somatic mutations of the thyroid-stimulating hormone receptor in children
2014
Grasberger et al.
J Clin Endocrinol Metab 92:2816-2820.
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
2005
Gozu et al.
Eur J Endocrinol. 155: 535-45
Similar prevalence of somatic TSH receptor and Gsalpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey.
2006
Gozu et al.
Endocr J. 52: 577-85
Mutations in the thyrotropin receptor signal transduction pathway in the hyperfunctioning thyroid nodules from multinodular goiters: a study in the Turkish population.
2005
Gozu et al.
Thyroid 18:499-508
A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.
2008
Govarts et al.
J. Biol. Chem. 276: 22991-22999
A conserved Asn in transmembrane helix 7 is an on/off switch in the activation of the thyrotropin receptor
2001
Georgopoulos et al.
Eur J Endocrinol. 149: 287-92
Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of-function mutations in the thyrotropin signaling pathway.
2003
Gagné et al.
J. Clin. Endocrinol. Metabol. 83: 1771-1775
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid DISTINCT entities?
1998
Gabriel et al.
J. Clin. Endocrinol. Metab. 84: 3328-3335
Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter
1999
Führer et al.
Endocr Relat Cancer. 10:591-600
Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases.
2003
Fukata et al
Clinical Endocrinology
A Japanese family with familial nonautoimmune
hyperthyroidism with a novel mutation (Asn406Ser)
in extracellular domain of thyrotrophin receptor
2012
Fuhrer et al.
J. Clin. Endocrinol. Metab. 82: 4234-4238
Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism
1997
Fuhrer et al.
Exp. Clin. Endocrinol. Diabetes 106: S10-S15
Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy
1998
Fuhrer et al.
J. Clin. Endocrinol. Metab. 82: 3885-3891
Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules
1997
Fuhrer et al.
Thyroid 8: 997-1001
The extracellular thyrotropin receptor domain is not a major candidate for mutations in toxic thyroid nodules
1998
Fuhrer et al.
Thyroid 9: 757-761
Variable Phenotype Associated with Ser505Asn-Activating Thyrotropin-receptor Germline Mutation
1999
Fuhrer et al.
Thyroid 10: 1035-1041
Novel TSHR Germline Mutation (Met463Val) Masquerading as Graves' Disease in a Large Welsh Kindred with Hyperthyroidism
2000
Fu, Chunyun et al.
Clinica Chimica Acta
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients
2016
Fricke-Otto et al.
Exp Clin Endocrinol Diabetes 113:582-585.
Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
2005
Ferrara et al.
Thyroid 17: 677-80
A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.
2007
Eszlinger, Markus, et al.
Molecular and cellular endocrinology
Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents
2014
Esapa et al.
Thyroid 9: 1005-10
A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis
1999
Elgadi et al.
Acta Paediatr. 94: 1145-8
Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms.
2005
Duprez et al.
Nature Genetics 7: 396-401
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
1994
Duprez et al.
J. Clin. Endocrinol. Metab. 82: 306-308
Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene
1997
Duprez et al.
FEBS Lett 409: 469-474
Constitutive activation of the TSH receptor by spontaneous mutations affecting the N-terminal extracellular domain
1997
Derwahl et al.
J Clin Endocrinol Metab.81: 1898-904
Constitutive activation of the Gs alpha protein-adenylate cyclase pathway may not be sufficient to generate toxic thyroid adenomas.
1996
De Roux et al.
J. Clin. Endocrinol. Metab. 81: 2023-2026
A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.
1996
De Roux et al.
J. Clin. Endocrinol. Metabol. 81: 4229-4235
Four families with loss of function mutations of the thyrotropin receptor
1996
Cross et al.
Arq Bras Endocrinol Metabol
Fatal outcome of a young woman with papillary thyroid carcinoma and graves' disease: possible implication of "cross-signalling" mechanism
2008
Costagliola et al.
Thyroid 9: 995-1000
Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene
1999
Clifton-Bligh et al.
J. Clin. Endocrinol. Metabol. 82: 1094-1100
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
1997
Claus et al.
Thyroid 15: 1089-94
Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism.
2005
Claeysen et al.
FEBS Lett 517: 195-200
A conserved Asn in TM7 of the thyrotropin receptor is a common requirement for activation by both mutations and its natural agonist.
2002
Cho et al.
Ann Pediatr Endocrinol Metab
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
2018
Chester et al.
J Pediatr Endocrinol Metab. 21: 479-86
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene
2008
Chawla et al.
Thyroid
Squamosal suture craniosynostosis due to hyperthyroidism caused by an activating thyrotropin receptor mutation (T632I)
2015
Cerqueira et al.
Journal of Pediatric Endocrinology and Metabolism
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion
2014
Cerbone, Manuela, et al.
Italian journal of pediatrics
Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers.
2013
Castro et al.
Thyroid 19:645-649
Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.
2009
Caron et al.
Clinical Endocrinology
NEW VARIANT (Val597Ile) IN TRANSMEMBRANE REGION OF THE TSH RECEPTOR WITH HUMAN CHORIONIC GONADOTROPIN HYPERSENSITIVITY IN FAMILIAL GESTATIONAL HYPERTHYROIDISM.
2020
Cangul, Hakan, et al.
Journal of Pediatric Endocrinology and Metabolism
A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
2014
Cangul et al.
Clin Endocrinol (Oxf) 73:671-677.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
2010
Cangul et al.
Journal of Pediatric Endocrinology and Metabolism
An essential splice site mutation (c. 317+ 1G> A) in the TSHR gene leads to severe thyroid dysgenesis
2014
Camilot et al.
Clin Endocrinol (Oxf) 63:146-151.
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
2005