FIBROBLAST-GROWTH-FACTOR RECEPTOR MUTATIONS IN HUMAN SKELETAL DISORDERS

被引：260

作者：

MUENKE, M ^{[1
]}

SCHELL, U ^{[1
]}

机构：

[1] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104

来源：

TRENDS IN GENETICS | 1995年 / 11卷 / 08期

关键词：

D O I：

10.1016/S0168-9525(00)89088-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fibroblast-growth-factor receptors (FGFRs) members of the tyrosine-kinase receptor family, play a crucial role in signal transduction and development. Recently, unique mutations in three human FGFR-encoding genes (FGFR1-3) bare been identified as tbe cause of a variety of skeletal disorders. Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these receptors in normal and abnormal bone development.

引用

页码：308 / 313

页数：6

共 50 条

[1]

ABRAHAM JA, IN PRESS MOL CELL BI

[2]

AMAYA E, 1991, CELL, V66, P247

[3]

BELLUS GA, 1995, AM J HUM GENET, V56, P368

[4]

BELLUS GA, IN PRESS NAT GENET

[5]

CHELLAIAH AT, 1994, J BIOL CHEM, V269, P11620

[6]

DENG C, 1995, INT GENETIC WORKSHOP

[7] MURINE FGFR-1 IS REQUIRED FOR EARLY POSTIMPLANTATION GROWTH AND AXIAL ORGANIZATION [J].

DENG, CX ;

WYNSHAWBORIS, A ;

SHEN, MM ;

DAUGHERTY, C ;

ORNITZ, DM ;

LEDER, P .

GENES & DEVELOPMENT, 1994, 8 (24) :3045-3057

[8] CLONING AND EXPRESSION OF 2 DISTINCT HIGH-AFFINITY RECEPTORS CROSS-REACTING WITH ACIDIC AND BASIC FIBROBLAST GROWTH-FACTORS [J].

DIONNE, CA ;

CRUMLEY, G ;

BELLOT, F ;

KAPLOW, JM ;

SEARFOSS, G ;

RUTA, M ;

BURGESS, WH ;

JAYE, M ;

SCHLESSINGER, J .

EMBO JOURNAL, 1990, 9 (09) :2685-2692

[9]

DONOHUE PJ, 1994, J BIOL CHEM, V269, P8604

[10] TOWARD A MOLECULAR UNDERSTANDING OF SKELETAL DEVELOPMENT [J].

ERLEBACHER, A ;

FILVAROFF, EH ;

GITELMAN, SE ;

DERYNCK, R .

CELL, 1995, 80 (03) :371-378

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