NOMENCLATURE OF THYROID-HORMONE RECEPTOR-BETA GENE-MUTATIONS IN RESISTANCE TO THYROID-HORMONE - CONSENSUS STATEMENT FROM THE FIRST WORKSHOP ON THYROID-HORMONE RESISTANCE, 1O-11TH JULY 1993, CAMBRIDGE, UK

被引:6
作者
BECKPECCOZ, P [1 ]
CHATTERJEE, VKK [1 ]
CHIN, WW [1 ]
DEGROOT, LJ [1 ]
JAMESON, JL [1 ]
NAKAMURA, H [1 ]
REFETOFF, S [1 ]
USALA, SJ [1 ]
WEINTRAUB, BD [1 ]
机构
[1] UNIV CAMBRIDGE,ADDENBROOKES HOSP,DEPT MED,CAMBRIDGE CB2 2QQ,ENGLAND
关键词
D O I
10.1530/eje.0.1300426
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:426 / 428
页数:3
相关论文
共 40 条
[1]   FUNCTIONAL-PROPERTIES OF A NOVEL MUTANT THYROID-HORMONE RECEPTOR IN A FAMILY WITH GENERALIZED THYROID-HORMONE RESISTANCE SYNDROME [J].
ADAMS, M ;
NAGAYA, T ;
TONE, Y ;
JAMESON, JL ;
CHATTERJEE, VKK .
CLINICAL ENDOCRINOLOGY, 1992, 36 (03) :281-289
[2]   KINDRED S-THYROID HORMONE RECEPTOR IS AN ACTIVE AND CONSTITUTIVE SILENCER AND A REPRESSOR FOR THYROID-HORMONE AND RETINOIC ACID RESPONSES [J].
BANIAHMAD, A ;
TSAI, SY ;
OMALLEY, BW ;
TSAI, MJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (22) :10633-10637
[3]   A POINT MUTATION (ALA229 TO THR) IN THE HINGE DOMAIN OF THE C-ERBA-BETA THYROID-HORMONE RECEPTOR GENE IN A FAMILY WITH GENERALIZED THYROID-HORMONE RESISTANCE [J].
BEHR, M ;
LOOS, U .
MOLECULAR ENDOCRINOLOGY, 1992, 6 (07) :1119-1126
[4]   SINGLE BASE MUTATION IN THE HORMONE BINDING DOMAIN OF THE THYROID-HORMONE RECEPTOR BETA GENE IN GENERALIZED THYROID-HORMONE RESISTANCE DEMONSTRATED BY SINGLE STRANDED CONFORMATION POLYMORPHISM ANALYSIS [J].
BOOTHROYD, CV ;
TEH, BT ;
HAYWARD, NK ;
HICKMAN, PE ;
WARD, GJ ;
CAMERON, DP .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 178 (02) :606-612
[5]   GENERALIZED THYROID-HORMONE RESISTANCE - IDENTIFICATION OF AN ARGININE TO CYSTINE MUTATION IN CODON-315 OF THE C-ERB A-BETA THYROID-HORMONE RECEPTOR [J].
BURMAN, KD ;
DJUH, YY ;
NICHOLSON, D ;
RHOOMS, P ;
WARTOFSKY, L ;
FEIN, HG ;
USALA, SJ ;
HAO, EH ;
BRADLEY, WEC ;
BERARD, J ;
SMALLRIDGE, RC .
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 1992, 15 (08) :573-579
[6]  
CHATTERJEE VKK, 1991, J CLIN INVEST, V87, P1977
[7]   AN ARGININE TO HISTIDINE MUTATION IN CODON-315 OF THE C-ERBA-BETA THYROID-HORMONE RECEPTOR IN A KINDRED WITH GENERALIZED RESISTANCE TO THYROID-HORMONES RESULTS IN A RECEPTOR WITH SIGNIFICANT 3,5,3'-TRIIODOTHYRONINE BINDING-ACTIVITY [J].
CUGINI, CD ;
LEIDY, JW ;
CHERTOW, BS ;
BERARD, J ;
BRADLEY, WEC ;
MENKE, JB ;
HAO, EH ;
USALA, SJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1992, 74 (05) :1164-1170
[8]   SYNDROMES OF THYROID-HORMONE RESISTANCE [J].
FRANKLYN, JA .
CLINICAL ENDOCRINOLOGY, 1991, 34 (03) :237-245
[9]   AN ARGININE TO HISTIDINE MUTATION IN CODON 311 OF THE C-ERBA-BETA GENE RESULTS IN A MUTANT THYROID-HORMONE RECEPTOR THAT DOES NOT MEDIATE A DOMINANT NEGATIVE PHENOTYPE [J].
GEFFNER, ME ;
SU, F ;
ROSS, NS ;
HERSHMAN, JM ;
VANDOP, C ;
MENKE, JB ;
HAO, E ;
STANZAK, RK ;
EATON, T ;
SAMUELS, HH ;
USALA, SJ .
JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (02) :538-546
[10]   THE RELATIVE EXPRESSION OF MUTANT AND NORMAL THYROID-HORMONE RECEPTOR GENES IN PATIENTS WITH GENERALIZED RESISTANCE TO THYROID-HORMONE DETERMINED BY ESTIMATION OF THEIR SPECIFIC MESSENGER-RIBONUCLEIC-ACID PRODUCTS [J].
HAYASHI, Y ;
JANSSEN, OE ;
WEISS, RE ;
MURATA, Y ;
SEO, H ;
REFETOFF, S .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 76 (01) :64-69