POINT MUTATIONS IN THE HUMAN VITAMIN-D RECEPTOR GENE ASSOCIATED WITH HYPOCALCEMIC RICKETS

被引:377
作者
HUGHES, MR
MALLOY, PJ
KIEBACK, DG
KESTERSON, RA
PIKE, JW
FELDMAN, D
OMALLEY, BW
机构
[1] BAYLOR COLL MED,DEPT CELL BIOL,HOUSTON,TX 77030
[2] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030
[3] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030
[4] STANFORD UNIV,MED CTR,SCH MED,DEPT MED,STANFORD,CA 94305
关键词
D O I
10.1126/science.2849209
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:1702 / 1705
页数:4
相关论文
共 68 条
[1]   ALDOSTERONE-RECEPTOR DEFICIENCY IN PSEUDOHYPOALDOSTERONISM [J].
ARMANINI, D ;
KUHNLE, U ;
STRASSER, T ;
DORR, H ;
BUTENANDT, I ;
WEBER, PC ;
STOCKIGT, JR ;
PEARCE, P ;
FUNDER, JW .
NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (19) :1178-1181
[2]   CLONING AND EXPRESSION OF FULL-LENGTH CDNA-ENCODING HUMAN VITAMIN-D RECEPTOR [J].
BAKER, AR ;
MCDONNELL, DP ;
HUGHES, M ;
CRISP, TM ;
MANGELSDORF, DJ ;
HAUSSLER, MR ;
PIKE, JW ;
SHINE, J ;
OMALLEY, BW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (10) :3294-3298
[3]   VITAMIN-D RESISTANT RICKETS WITH ALOPECIA - A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN-D [J].
BEER, S ;
TIEDER, M ;
KOHELET, D ;
LIBERMAN, OA ;
VURE, E ;
BARJOSEPH, G ;
GABIZON, D ;
BOROCHOWITZ, ZU ;
VARON, M ;
MODAI, D .
CLINICAL ENDOCRINOLOGY, 1981, 14 (04) :395-402
[4]   POTENTIAL METAL-BINDING DOMAINS IN NUCLEIC-ACID BINDING-PROTEINS [J].
BERG, JM .
SCIENCE, 1986, 232 (4749) :485-487
[5]  
BERG P, 1988, P NATL ACAD SCI US, V85, P99
[6]  
BERG P, 1987, COLD SPRING HARBOR S, V52, P579
[7]   2 ZINC FINGERS OF A YEAST REGULATORY PROTEIN SHOWN BY GENETIC-EVIDENCE TO BE ESSENTIAL FOR ITS FUNCTION [J].
BLUMBERG, H ;
EISEN, A ;
SLEDZIEWSKI, A ;
BADER, D ;
YOUNG, ET .
NATURE, 1987, 328 (6129) :443-445
[8]  
BOSSON D, 1986, ACTA ENDOCR S279, V112, P376
[9]   PRIMARY CORTISOL RESISTANCE ASSOCIATED WITH A THERMOLABILE GLUCOCORTICOID RECEPTOR IN A PATIENT WITH FATIGUE AS THE ONLY SYMPTOM [J].
BRONNEGARD, M ;
WERNER, S ;
GUSTAFSSON, JA .
JOURNAL OF CLINICAL INVESTIGATION, 1986, 78 (05) :1270-1278
[10]   VITAMIN-D-DEPENDENT RICKETS TYPE-II - RESISTANCE OF TARGET ORGANS TO 1,25-DIHYDROXYVITAMIN-D [J].
BROOKS, MH ;
BELL, NH ;
LOVE, L ;
STERN, PH ;
ORFEI, E ;
QUEENER, SF ;
HAMSTRA, AJ ;
DELUCA, HF .
NEW ENGLAND JOURNAL OF MEDICINE, 1978, 298 (18) :996-999