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137 related items for PubMed ID: 11012571

  • 1. Functional characterization of five constitutively activating thyrotrophin receptor mutations.
    Wonerow P, Chey S, Führer D, Holzapfel HP, Paschke R.
    Clin Endocrinol (Oxf); 2000 Oct; 53(4):461-8. PubMed ID: 11012571
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the mouse TSH receptor equivalent to human constitutively activating TSH receptor mutations also cause constitutive activity.
    Neumann S, Krohn K, Chey S, Paschke R.
    Horm Metab Res; 2001 May; 33(5):263-9. PubMed ID: 11440271
    [Abstract] [Full Text] [Related]

  • 3. Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor.
    Agretti P, De Marco G, Collecchi P, Chiovato L, Vitti P, Pinchera A, Tonacchera M.
    Eur J Biochem; 2003 Sep; 270(18):3839-47. PubMed ID: 12950268
    [Abstract] [Full Text] [Related]

  • 4. Expression of G(alpha)(s) proteins and TSH receptor signalling in hyperfunctioning thyroid nodules with TSH receptor mutations.
    Holzapfel HP, Bergner B, Wonerow P, Paschke R.
    Eur J Endocrinol; 2002 Jul; 147(1):109-16. PubMed ID: 12088927
    [Abstract] [Full Text] [Related]

  • 5. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
    Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S.
    J Clin Endocrinol Metab; 2007 Jul; 92(7):2816-20. PubMed ID: 17456567
    [Abstract] [Full Text] [Related]

  • 6. Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signal generation.
    Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn LD.
    Mol Endocrinol; 1993 Aug; 7(8):1009-20. PubMed ID: 7901757
    [Abstract] [Full Text] [Related]

  • 7. Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?
    Mueller S, Gozu HI, Bircan R, Jaeschke H, Eszlinger M, Lueblinghoff J, Krohn K, Paschke R.
    Thyroid; 2009 Jul; 19(7):765-73. PubMed ID: 19583488
    [Abstract] [Full Text] [Related]

  • 8. Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.
    Castro I, Lima L, Seoane R, Lado-Abeal J.
    Thyroid; 2009 Jun; 19(6):645-9. PubMed ID: 19499991
    [Abstract] [Full Text] [Related]

  • 9. Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation.
    Neumann S, Claus M, Paschke R.
    Eur J Endocrinol; 2005 Apr; 152(4):625-34. PubMed ID: 15817920
    [Abstract] [Full Text] [Related]

  • 10. Ras homolog enriched in striatum inhibits the functional activity of wild type thyrotropin, follicle-stimulating hormone, luteinizing hormone receptors and activating thyrotropin receptor mutations by altering their expression in COS-7 cells.
    Agretti P, De Marco G, Pinchera A, Vitti P, Bernal J, Tonacchera M.
    J Endocrinol Invest; 2007 Apr; 30(4):279-84. PubMed ID: 17556863
    [Abstract] [Full Text] [Related]

  • 11. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
    Tonacchera M, Van Sande J, Cetani F, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont JE, Vassart G, Parma J.
    J Clin Endocrinol Metab; 1996 Feb; 81(2):547-54. PubMed ID: 8636266
    [Abstract] [Full Text] [Related]

  • 12. Differential effects of NaCl concentration on the constitutive activity of the thyrotropin and the luteinizing hormone/chorionic gonadotropin receptors.
    Cetani F, Tonacchera M, Vassart G.
    FEBS Lett; 1996 Jan 02; 378(1):27-31. PubMed ID: 8549796
    [Abstract] [Full Text] [Related]

  • 13. Current standards, variations, and pitfalls for the determination of constitutive TSHR activity in vitro.
    Mueller S, Jaeschke H, Paschke R.
    Methods Enzymol; 2010 Jan 02; 485():421-36. PubMed ID: 21050930
    [Abstract] [Full Text] [Related]

  • 14. Functional significance of the thyrotropin receptor germline polymorphism D727E.
    Sykiotis GP, Neumann S, Georgopoulos NA, Sgourou A, Papachatzopoulou A, Markou KB, Kyriazopoulou V, Paschke R, Vagenakis AG, Papavassiliou AG.
    Biochem Biophys Res Commun; 2003 Feb 21; 301(4):1051-6. PubMed ID: 12589819
    [Abstract] [Full Text] [Related]

  • 15. The W520X mutation in the TSHR gene brings on subclinical hypothyroidism through an haploinsufficiency mechanism.
    Moia S, Godi M, Walker GE, Roccio M, Agretti P, Tonacchera M, Berardi R, Bellone S, Prodam F, Giordano M, Bona G.
    J Endocrinol Invest; 2013 Oct 21; 36(9):716-21. PubMed ID: 23563316
    [Abstract] [Full Text] [Related]

  • 16. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.
    Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE, Vassart G.
    J Clin Endocrinol Metab; 1997 Aug 21; 82(8):2695-701. PubMed ID: 9253356
    [Abstract] [Full Text] [Related]

  • 17. Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment.
    Liu Z, Fan F, Xiao X, Sun Y.
    PLoS One; 2011 Jan 21; 6(1):e16335. PubMed ID: 21283701
    [Abstract] [Full Text] [Related]

  • 18. 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 phosphate-Ca2+ cascades.
    Parma J, Van Sande J, Swillens S, Tonacchera M, Dumont J, Vassart G.
    Mol Endocrinol; 1995 Jun 21; 9(6):725-33. PubMed ID: 8592518
    [Abstract] [Full Text] [Related]

  • 19. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
    Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L.
    J Clin Endocrinol Metab; 2002 Jun 21; 87(6):2549-55. PubMed ID: 12050212
    [Abstract] [Full Text] [Related]

  • 20. Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
    Costagliola S, Sunthorntepvarakul T, Migeotte I, Van Sande J, Kajava AM, Refetoff S, Vassart G.
    Thyroid; 1999 Oct 21; 9(10):995-1000. PubMed ID: 10560953
    [Abstract] [Full Text] [Related]

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