CHARACTERIZATION OF A DE-NOVO 43-BP DELETION OF THE GS-ALPHA GENE (GNAS1) IN ALBRIGHT HEREDITARY OSTEODYSTROPHY

被引：34

作者：

LUTTIKHUIS, MEMO

WILSON, LC

LEONARD, JV

TREMBATH, RC

机构：

[1] UNIV LEICESTER,DEPT MED,LEICESTER LE1 7RH,ENGLAND

[2] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND

来源：

GENOMICS | 1994年 / 21卷 / 02期

关键词：

D O I：

10.1006/geno.1994.1297

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

[No abstract available]

引用

页码：455 / 457

页数：3

共 13 条

[1] A CONVENIENT METHOD FOR MEASURING RECEPTOR-CYCLASE COUPLING ACTIVITY IN WHOLE-BLOOD - APPLICATION TO DUCHENNE MUSCULAR-DYSTROPHY [J].

BOURNE, HR ;

STEINBERG, F ;

GOLBUS, MS ;

FARFEL, Z .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 15 (03) :469-474

[2] REDUCED EXPRESSION OF MULTIPLE FORMS OF THE ALPHA-SUBUNIT OF THE STIMULATORY GTP-BINDING PROTEIN IN PSEUDOHYPOPARATHYROIDISM TYPE-IA [J].

CARTER, A ;

BARDIN, C ;

COLLINS, R ;

SIMONS, C ;

BRAY, P ;

SPIEGEL, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (20) :7266-7269

[3] IMPRINTING IN ALBRIGHT HEREDITARY OSTEODYSTROPHY [J].

DAVIES, SJ ;

HUGHES, HE .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (02) :101-103

[4] GENETIC-MAPPING OF THE GS-ALPHA SUBUNIT GENE (GNAS1) TO THE DISTAL LONG ARM OF CHROMOSOME 20 USING A POLYMORPHISM DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].

GEJMAN, PV ;

WEINSTEIN, LS ;

MARTINEZ, M ;

SPIEGEL, AM ;

CAO, Q ;

HSIEH, WT ;

HOEHE, MR ;

GERSHON, ES .

GENOMICS, 1991, 9 (04) :782-783

[5] ISOLATION AND CHARACTERIZATION OF THE HUMAN GS-ALPHA GENE [J].

KOZASA, T ;

ITOH, H ;

TSUKAMOTO, T ;

KAZIRO, Y .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (07) :2081-2085

[6] GTPASE INHIBITING MUTATIONS ACTIVATE THE ALPHA-CHAIN OF GS AND STIMULATE ADENYLYL CYCLASE IN HUMAN PITUITARY-TUMORS [J].

LANDIS, CA ;

MASTERS, SB ;

SPADA, A ;

PACE, AM ;

BOURNE, HR ;

VALLAR, L .

NATURE, 1989, 340 (6236) :692-696

[7] GENETIC DEFICIENCY OF THE ALPHA-SUBUNIT OF THE GUANINE NUCLEOTIDE-BINDING PROTEIN-GS AS THE MOLECULAR-BASIS FOR ALBRIGHT HEREDITARY OSTEODYSTROPHY [J].

LEVINE, MA ;

AHN, TG ;

KLUPT, SF ;

KAUFMAN, KD ;

SMALLWOOD, PM ;

BOURNE, HR ;

SULLIVAN, KA ;

VANDOP, C .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (02) :617-621

[8] HETEROGENEOUS MUTATIONS IN THE GENE ENCODING THE ALPHA-SUBUNIT OF THE STIMULATORY G-PROTEIN OF ADENYLYL CYCLASE IN ALBRIGHT HEREDITARY OSTEODYSTROPHY [J].

MIRIC, A ;

VECHIO, JD ;

LEVINE, MA .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 76 (06) :1560-1568

[9] MUTATION IN THE GENE ENCODING THE STIMULATORY G-PROTEIN OF ADENYLATE-CYCLASE IN ALBRIGHTS HEREDITARY OSTEODYSTROPHY [J].

PATTEN, JL ;

JOHNS, DR ;

VALLE, D ;

EIL, C ;

GRUPPUSO, PA ;

STEELE, G ;

SMALLWOOD, PM ;

LEVINE, MA .

NEW ENGLAND JOURNAL OF MEDICINE, 1990, 322 (20) :1412-1419

[10] WT1 MUTATIONS CONTRIBUTE TO ABNORMAL GENITAL SYSTEM-DEVELOPMENT AND HEREDITARY WILMS-TUMOR [J].

PELLETIER, J ;

BRUENING, W ;

LI, FP ;

HABER, DA ;

GLASER, T ;

HOUSMAN, DE .

NATURE, 1991, 353 (6343) :431-434

← 1 2 →