SOMATIC AND GERMLINE MUTATIONS OF THE TSH RECEPTOR GENE IN THYROID-DISEASES

被引：231

作者：

VANSANDE, J

PARMA, J

TONACCHERA, M

SWILLENS, S

DUMONT, J

VASSART, G

机构：

[1] FREE UNIV BRUSSELS, FAC MED, INST RECH INTERDISCIPLINAIRE, IRIBHN, B-1070 BRUSSELS, BELGIUM

[2] FREE UNIV BRUSSELS, SERV GENET MED, B-1070 BRUSSELS, BELGIUM

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1995年 / 80卷 / 09期

关键词：

D O I：

10.1210/jc.80.9.2577

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：2577 / 2585

页数：9

共 59 条

[1] A GENOMIC POINT MUTATION IN THE EXTRACELLULAR DOMAIN OF THE THYROTROPIN RECEPTOR IN PATIENTS WITH GRAVES OPHTHALMOPATHY [J].

BAHN, RS ;

DUTTON, CM ;

HEUFELDER, AE ;

SARKAR, G .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1994, 78 (02) :256-260

[2] A HERITABLE POINT MUTATION IN AN EXTRACELLULAR DOMAIN OF THE TSH RECEPTOR INVOLVED IN THE INTERACTION WITH GRAVES IMMUNOGLOBULINS [J].

BOHR, URM ;

BEHR, M ;

LOOS, U .

BIOCHIMICA ET BIOPHYSICA ACTA, 1993, 1216 (03) :504-508

[3] CONGENITAL HYPOTHYROIDISM ASSOCIATED WITH THYROTROPIN UNRESPONSIVENESS AND THYROID CELL-MEMBRANE ALTERATIONS [J].

CODACCIONI, JL ;

CARAYON, P ;

MICHELBECHET, M ;

FOUCAULT, F ;

LEFORT, G ;

PIERRON, H .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1980, 50 (05) :932-937

[4] STRUCTURAL ELEMENTS OF G-ALPHA-SUBUNITS THAT INTERACT WITH G-BETA-GAMMA, RECEPTORS, AND EFFECTORS [J].

CONKLIN, BR ;

BOURNE, HR .

CELL, 1993, 73 (04) :631-641

[5] THE H2O2-GENERATING SYSTEM MODULATES PROTEIN IODINATION AND THE ACTIVITY OF THE PENTOSE-PHOSPHATE PATHWAY IN DOG THYROID [J].

CORVILAIN, B ;

VANSANDE, J ;

LAURENT, E ;

DUMONT, JE .

ENDOCRINOLOGY, 1991, 128 (02) :779-785

[6]

COSTA T, 1992, MOL PHARMACOL, V41, P549

[7]

DEGROOT LJ, 1995, ENDOCRINOLOGY, P834

[8]

DMONT JE, 1989, METABOLIC BASIS INHE, P1843

[9] HETEROZYGOUS MISSENSE MUTATION IN THE RHODOPSIN GENE AS A CAUSE OF CONGENITAL STATIONARY NIGHT BLINDNESS [J].

DRYJA, TP ;

BERSON, EL ;

RAO, VR ;

OPRIAN, DD .

NATURE GENETICS, 1993, 4 (03) :280-283

[10] THE CYCLIC AMP-MEDIATED STIMULATION OF CELL-PROLIFERATION [J].

DUMONT, JE ;

JAUNIAUX, JC ;

ROGER, PP .

TRENDS IN BIOCHEMICAL SCIENCES, 1989, 14 (02) :67-71

← 1 2 3 4 5 6 →