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 [J].
Abramowicz, MJ ;
Duprez, L ;
Parma, J ;
Vassart, G ;
Heinrichs, C .
JOURNAL OF CLINICAL INVESTIGATION, 1997, 99 (12) :3018-3024
[2]   The spectrum of thyroid disorders in an iodine-deficient community: The Pescopagano survey [J].
Aghini-Lombardi, F ;
Antonangeli, L ;
Martino, E ;
Vitti, P ;
Maccherini, D ;
Leoli, F ;
Rago, T ;
Grasso, L ;
Valeriano, R ;
Balestrieri, A ;
Pinchera, A .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (02) :561-566
[3]   Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism [J].
Aoshima, H ;
Yoshida, T ;
Kobayashi, S ;
Mizushima, Y ;
Kawai, S .
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 [J].
Arseven, OK ;
Wilkes, WP ;
Jameson, JL ;
Kopp, P .
THYROID, 2000, 10 (01) :3-10
[5]   INTERRELATIONSHIPS BETWEEN AGE, THYROID VOLUME, THYROID NODULARITY, AND THYROID-FUNCTION IN PATIENTS WITH SPORADIC NONTOXIC GOITER [J].
BERGHOUT, A ;
WIERSINGA, WM ;
SMITS, NJ ;
TOUBER, JL .
AMERICAN JOURNAL OF MEDICINE, 1990, 89 (05) :602-608
[6]   Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism [J].
Biebermann, H ;
Schoneberg, T ;
Krude, H ;
Schultz, G ;
Gudermann, T ;
Gruters, A .
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 [J].
Bourasseau, I ;
Savagner, F ;
Rodien, P ;
Duquenne, M ;
Reynier, P ;
Guyetant, S ;
Bigorgne, JC ;
Malthièry, Y ;
Rohmer, V .
THYROID, 2000, 10 (09) :761-765
[8]   THYROID-FUNCTION AND HYPERFUNCTION DURING GESTATION [J].
BURROW, GN .
ENDOCRINE REVIEWS, 1993, 14 (02) :194-202
[9]   A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism [J].
Camacho, P ;
Gordon, D ;
Chiefari, E ;
Yong, S ;
DeJong, S ;
Pitale, S ;
Russo, D ;
Filetti, S .
THYROID, 2000, 10 (11) :1009-1012
[10]   Genetic analysis of the TSH receptor gene in differentiated human thyroid carcinomas [J].
Cetani, F ;
Tonacchera, M ;
Pinchera, A ;
Barsacchi, R ;
Basolo, F ;
Miccoli, P ;
Pacini, F .
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 1999, 22 (04) :273-278