Somatic and germline mutations of the TSH receptor and thyroid diseases (Q34352820)

1 August 2017

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title

Somatic and germline mutations of the TSH receptor and thyroid diseases (English)

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1 August 2017

Corvilain B

1

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1 August 2017

Van Sande J

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2

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1 August 2017

Dumont JE

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3

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1 August 2017

Vassart G

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4

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1 August 2017

1 August 2001

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1 August 2017

Clinical Endocrinology

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1 August 2017

55

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1 August 2017

2

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1 August 2017

143-158

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Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

1 August 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Interrelationships between age, thyroid volume, thyroid nodularity, and thyroid function in patients with sporadic nontoxic goiter

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Regions of the alpha 1-adrenergic receptor involved in coupling to phosphatidylinositol hydrolysis and enhanced sensitivity of biological function

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

The cyclic AMP-mediated stimulation of cell proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

The expanding spectrum of G protein diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Agonists induce conformational changes in transmembrane domains III and VI of the beta2 adrenoceptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

The regulation of thyroid function in pregnancy: pathways of endocrine adaptation from physiology to pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Novel insights into the molecular mechanisms of human thyrotropin action: structural, physiological, and therapeutic implications for the glycoprotein hormone family

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

The autonomously functioning thyroid nodule: Goetsch's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Structure and function of proteins in G-protein-coupled signal transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Dual activation by thyrotropin of the phospholipase C and cyclic AMP cascades in human thyroid

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

The toxic effect of small iodine supplements in patients with autonomous thyroid nodules

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Two G protein oncogenes in human endocrine tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Hyperfunctioning malignant thyroid nodule in an 11-year-old girl: pathologic and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Activating point mutations of the gsp oncogene in human thyroid adenomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosph

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Molecular cloning of the thyrotropin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

The natural history of the autonomous hyperfunctioning thyroid nodule.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Pathogenesis of autonomous thyroid nodules: in vitro study of iodine and adenosine 3',5'-monophosphate metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Specific activation of the thyrotropin receptor by trypsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Somatic and germline mutations of the TSH receptor gene in thyroid diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

In Chinese hamster ovary K1 cells dog and human thyrotropin receptors activate both the cyclic AMP and the phosphatidylinositol 4,5-bisphosphate cascades in the presence of thyrotropin and the cyclic AMP cascade in its absence

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Deletions in the third intracellular loop of the thyrotropin receptor. A new mechanism for constitutive activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

Screening of Thyrotropin Receptor Mutations by Fine-Needle Aspiration Biopsy in Autonomous Functioning Thyroid Nodules in Multinodular Goiters

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2265.2001.01365.X

10.1046/J.1365-2265.2001.01365.X

21 January 2018

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DOI

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1 August 2017

1 reference