Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism

HI Gozu, J Lublinghoff, R Bircan, R Paschke - Molecular and cellular …, 2010 - Elsevier
TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-
autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH) …

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations

A Hebrant, WCG Van Staveren… - European journal of …, 2011 - academic.oup.com
Three syndromes affecting the thyroid gland are described in the literature separately:
familial nonautoimmune hyperthyroidism, sporadic congenital nonautoimmune …

2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating …

R Paschke, M Niedziela, B Vaidya… - European thyroid …, 2012 - etj.bioscientifica.com
All cases of familial thyrotoxicosis with absence of evidence of autoimmunity and all children
with persistent isolated neonatal hyperthyroidism should be evaluated for familial non …

Inheritable and sporadic non-autoimmune hyperthyroidism

C Ferraz, R Paschke - Best Practice & Research Clinical Endocrinology & …, 2017 - Elsevier
Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has
multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune …

Molecular basis of diseases of the endocrine system

ALY Pang, MM Martin, ALA Martin, WY Chan - Molecular pathology, 2009 - Elsevier
Publisher Summary In the practice of medicine, it has long been recognized that endocrine
disorders were caused by too much or too little hormone. However, the etiology of the …

Sulfur-containing amino acids in 7TMRs: molecular gears for pharmacology and function

A Cordomí, JC Gómez-Tamayo, V Gigoux… - Trends in …, 2013 - cell.com
Seven-transmembrane receptors (7TMRs) mediate the majority of physiological responses
to hormones and neurotransmitters in higher organisms. Tertiary structure stability and …

Shared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active In Vitro Activities than Familial Thyrotropin Receptor Mutations

J Lueblinghoff, M Eszlinger, H Jaeschke, S Mueller… - Thyroid, 2011 - liebertpub.com
Background: Germline thyrotropin receptor (TSHR) mutations are associated with sporadic
congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism …

Expanding clinical spectrum of non‐autoimmune hyperthyroidism due to an activating germline mutation, p. M453T, in the thyrotropin receptor gene

V Supornsilchai, T Sahakitrungruang… - Clinical …, 2009 - Wiley Online Library
Objective To describe clinical and genetic features of a Thai family with non‐autoimmune
hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor …

Thyroid gene expression in familial nonautoimmune hyperthyroidism shows common characteristics with hyperfunctioning autonomous adenomas

A Hébrant, J Van Sande, PP Roger… - The Journal of …, 2009 - academic.oup.com
Context: Dominant activating mutations of the TSH receptor are the cause of familial
nonautoimmune hyperthyroidism (FNAH)(inherited mutations affecting the whole gland …

Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy

R Bertalan, A Sallai, J Sólyom, G Lotz, I Szabó… - Thyroid, 2010 - liebertpub.com
Background: Germline activating mutations of the thyrotropin receptor (TSHR) gene have
been considered as the only known cause of sporadic nonautoimmune hyperthyroidism in …