Type X collagen NC1 mutations produced by site-directed mutagenesis prevent in vitro assembly

被引：5

作者：

Chan, D

Weng, YM

Golub, S

Bateman, JF

机构：

来源：

MOLECULAR AND DEVELOPMENTAL BIOLOGY OF CARTILAGE | 1996年 / 785卷

关键词：

D O I：

10.1111/j.1749-6632.1996.tb56269.x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：231 / 233

页数：3

共 7 条

[1] TYPE-X COLLAGEN MULTIMER ASSEMBLY IN-VITRO IS PREVENTED BY A GLY(618) TO VAL MUTATION IN THE ALPHA-1(X) NC1 DOMAIN RESULTING IN SCHMID METAPHYSEAL CHONDRODYSPLASIA [J].

CHAN, D ;

COLE, WG ;

ROGERS, JG ;

BATEMAN, JF .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (09) :4558-4562

[2] IDENTIFICATION OF A MUTATION IN TYPE-X COLLAGEN IN A FAMILY WITH SCHMID METAPHYSEAL CHONDRODYSPLASIA [J].

DHARMAVARAM, RM ;

ELBERSON, MA ;

PENG, MH ;

KIRSON, LA ;

KELLEY, TE ;

JIMENEZ, SA .

HUMAN MOLECULAR GENETICS, 1994, 3 (03) :507-509

[3] SPONDYLOMETAPHYSEAL DYSPLASIA IN MICE CARRYING A DOMINANT-NEGATIVE MUTATION IN A MATRIX PROTEIN-SPECIFIC FOR CARTILAGE-TO-BONE TRANSITION [J].

JACENKO, O ;

LUVALLE, PA ;

OLSEN, BR .

NATURE, 1993, 365 (6441) :56-61

[4] ADDITIONAL MUTATIONS OF TYPE-X COLLAGEN CONFIRM COL10A1 AS THE SCHMID METAPHYSEAL CHONDRODYSPLASIA LOCUS [J].

MCINTOSH, I ;

ABBOTT, MH ;

WARMAN, ML ;

OLSEN, BR ;

FRANCOMANO, CA .

HUMAN MOLECULAR GENETICS, 1994, 3 (02) :303-307

[5] NORMAL LONG-BONE GROWTH AND DEVELOPMENT IN TYPE-X COLLAGEN NULL MICE [J].

ROSATI, R ;

HORAN, GSB ;

PINERO, GJ ;

GAROFALO, S ;

KEENE, DR ;

HORTON, WA ;

VUORIO, E ;

DECROMBRUGGHE, B ;

BEHRINGER, RR .

NATURE GENETICS, 1994, 8 (02) :129-135

[6]

WALLIS GA, 1994, AM J HUM GENET, V54, P169

[7] A TYPE-X COLLAGEN MUTATION CAUSES SCHMID METAPHYSEAL CHONDRODYSPLASIA [J].

WARMAN, ML ;

ABBOTT, M ;

APTE, SS ;

HEFFERON, T ;

MCINTOSH, I ;

COHN, DH ;

HECHT, JT ;

OLSEN, BR ;

FRANCOMANO, CA .

NATURE GENETICS, 1993, 5 (01) :79-82

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