A New Phenotype of Nongoitrous and Nonautoimmune Hyperthyroidism Caused by a Heterozygous Thyrotropin Receptor Mutation in Transmembrane Helix 6 | Zendy

Franziska Winkler | Zendy; Gunnar Kleinau | Zendy; Patrick Tarnow | Zendy; Anne Rediger | Zendy; Lisa Grohmann | Zendy; Imke Gaetjens | Zendy; Gerd Krause | Zendy; Dagmar l‘Allemand | Zendy; Annette Grüters | Zendy; Heiko Krude | Zendy; Heike Biebermann | Zendy

Open Access

A New Phenotype of Nongoitrous and Nonautoimmune Hyperthyroidism Caused by a Heterozygous Thyrotropin Receptor Mutation in Transmembrane Helix 6

Author(s) -

Franziska Winkler,

Gunnar Kleinau,

Patrick Tarnow,

Anne Rediger,

Lisa Grohmann,

Imke Gaetjens,

Gerd Krause,

Dagmar l‘Allemand,

Annette Grüters,

Heiko Krude,

Heike Biebermann

Publication year - 2010

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2010-0112

Subject(s) - thyrotropin receptor , phenotype , mutation , transmembrane protein , transmembrane domain , receptor , endocrinology , heterozygote advantage , medicine , biology , genetics , gene , thyroid , graves' disease , allele

Activating mutations in the TSHR gene were found in patients suffering from nonautoimmune hyperthyroidism. In the past, it was assumed that thyroid hyperplasia is due to constitutive activation of the Gs/adenylyl cyclase signaling pathway; however, the physiological role of the Gq/11 pathway in this context remains unclear.

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