Somatic and germline mutations of the TSH receptor and thyroid diseases

被引:79
作者
Corvilain, B
Van Sande, J
Dumont, JE
Vassart, G
机构
[1] IRIBHN, Sch Med, B-1070 Brussels, Belgium
[2] Free Univ Brussels, Erasme Univ Hosp, Dept Endocrinol, Brussels, Belgium
[3] Free Univ Brussels, Erasme Univ Hosp, Dept Med Genet, Brussels, Belgium
关键词
D O I
10.1046/j.1365-2265.2001.01365.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:143 / 158
页数:16
相关论文
共 109 条
  • [1] Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    Abramowicz, MJ
    Duprez, L
    Parma, J
    Vassart, G
    Heinrichs, C
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1997, 99 (12) : 3018 - 3024
  • [2] The spectrum of thyroid disorders in an iodine-deficient community: The Pescopagano survey
    Aghini-Lombardi, F
    Antonangeli, L
    Martino, E
    Vitti, P
    Maccherini, D
    Leoli, F
    Rago, T
    Grasso, L
    Valeriano, R
    Balestrieri, A
    Pinchera, A
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (02) : 561 - 566
  • [3] Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism
    Aoshima, H
    Yoshida, T
    Kobayashi, S
    Mizushima, Y
    Kawai, S
    [J]. ENDOCRINE JOURNAL, 2000, 47 (03) : 365 - 372
  • [4] Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11
    Arseven, OK
    Wilkes, WP
    Jameson, JL
    Kopp, P
    [J]. THYROID, 2000, 10 (01) : 3 - 10
  • [5] INTERRELATIONSHIPS BETWEEN AGE, THYROID VOLUME, THYROID NODULARITY, AND THYROID-FUNCTION IN PATIENTS WITH SPORADIC NONTOXIC GOITER
    BERGHOUT, A
    WIERSINGA, WM
    SMITS, NJ
    TOUBER, JL
    [J]. AMERICAN JOURNAL OF MEDICINE, 1990, 89 (05) : 602 - 608
  • [6] Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
    Biebermann, H
    Schoneberg, T
    Krude, H
    Schultz, G
    Gudermann, T
    Gruters, A
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (10) : 3471 - 3480
  • [7] No evidence of thyrotropin receptor and GSα gene mutation in high iodine uptake thyroid carcinoma
    Bourasseau, I
    Savagner, F
    Rodien, P
    Duquenne, M
    Reynier, P
    Guyetant, S
    Bigorgne, JC
    Malthièry, Y
    Rohmer, V
    [J]. THYROID, 2000, 10 (09) : 761 - 765
  • [8] THYROID-FUNCTION AND HYPERFUNCTION DURING GESTATION
    BURROW, GN
    [J]. ENDOCRINE REVIEWS, 1993, 14 (02) : 194 - 202
  • [9] A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism
    Camacho, P
    Gordon, D
    Chiefari, E
    Yong, S
    DeJong, S
    Pitale, S
    Russo, D
    Filetti, S
    [J]. THYROID, 2000, 10 (11) : 1009 - 1012
  • [10] Genetic analysis of the TSH receptor gene in differentiated human thyroid carcinomas
    Cetani, F
    Tonacchera, M
    Pinchera, A
    Barsacchi, R
    Basolo, F
    Miccoli, P
    Pacini, F
    [J]. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 1999, 22 (04) : 273 - 278