Thyrotropin

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Abba J. Kastin - One of the best experts on this subject based on the ideXlab platform.

Thomas Gudermann - One of the best experts on this subject based on the ideXlab platform.

  • Congenital Hypothyroidism Caused by Mutations in the Thyrotropin-Receptor Gene
    The New England journal of medicine, 1997
    Co-Authors: Heiki Biebermann, Annette Grüters, Torsten Schöneberg, Thomas Gudermann
    Abstract:

    To the Editor: The causes of congenital hypothyroidism are poorly understood. Recently, two different missense mutations in the extracellular domain of the Thyrotropin receptor were identified in three siblings who had elevated serum Thyrotropin concentrations but were euthyroid and had thyroid glands of normal size.1 We describe a patient with congenital hypothyroidism and thyroid hypoplasia due to two loss-of-function mutations in exon 10 of the Thyrotropin-receptor gene. At birth the patient, the firstborn infant of nonconsanguineous parents, had a blood Thyrotropin concentration of 89 mU per liter. Reexamination revealed a serum Thyrotropin concentration of 82 mU per liter (normal,

Robin J Leach - One of the best experts on this subject based on the ideXlab platform.

Paul D. Woolf - One of the best experts on this subject based on the ideXlab platform.

Gilbert Vassart - One of the best experts on this subject based on the ideXlab platform.

  • Functional Characteristics of a Variant Thyrotropin Receptor
    European journal of biochemistry, 1996
    Co-Authors: Massimo Tonacchera, Filomena Cetani, Sabine Costagliola, Jacqueline Van Sande, Samuel Refetoff, Gilbert Vassart
    Abstract:

    A claim has been made that a variant of the human Thyrotropin receptor in which Pro52 is replaced by Thr ([Thr52]Thyrotropin receptor) is associated with autoimmune thyroid diseases and displays increased responsiveness to Thyrotropin. We have analysed the functional characteristics of this variant receptor. Equivalent numbers of of the wild type and of the variant Thyrotropin receptor, measured both by 125I-Thyrotropin binding and by flow cytofluorimetry, were transiently expressed in COS-7 cells. Under these conditions, the two receptors showed the same degree of constitutive activity for the cAMP pathway, the same affinity for bovine Thyrotropin, and a virtually identical responsiveness to bovine Thyrotropin for activation of both the cAMP and inositol-phosphate regulatory pathways. Our results show that the [Thr52]Thyrotropin receptor variant of the human Thyrotropin receptor, which is present in the 12% of the population, does not affect receptor function and represents most likely a simple polymorphism.