MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

被引：182
作者：
Kim, JW
Simmer, JP
Hart, TC
Hart, PS
Ramaswami, MD
Bartlett, JD
Hu, JCC
机构：
[1] Seoul Natl Univ, Coll Dent, Dept Pediat Dent, Seoul, South Korea
[2] Seoul Natl Univ, Dent Res Inst, Seoul, South Korea
[3] Univ Michigan, Sch Dent, Dept Biol & Mat Sci, Ann Arbor, MI 48109 USA
[4] NIDCR, NIH, Bethesda, MD USA
[5] Forsyth Inst, Harvard Forsyth Dept Cytokine Biol, Boston, MA USA
[6] Forsyth Inst, Harvard Forsyth Dept Cytokine Biol, Boston, MA USA
[7] Univ Michigan, Sch Dent, Dept Pediat Dent, Ann Arbor, MI 48109 USA
来源：
JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 03期
关键词：
D O I：
10.1136/jmg.2004.024505
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：271 / 275
页数：5
相关论文
共 38 条
[1]  
Antonarakis SE, 1998, HUM MUTAT, V11, P1
[2]   Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ [J].
Bartlett, JD ;
Simmer, JP ;
Xue, J ;
Margolis, HC ;
Moreno, EC .
GENE, 1996, 183 (1-2) :123-128
[3]   Proteinases in developing dental enamel [J].
Bartlett, JD ;
Simmer, JP .
CRITICAL REVIEWS IN ORAL BIOLOGY & MEDICINE, 1999, 10 (04) :425-441
[4]  
BARTLETT JD, 2004, HDB PROTEOLYTIC ENZY, V1, P561
[5]   Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin:: tooth-specific molecules that are distinctively expressed during murine dental differentiation [J].
Bègue-Kirn, C ;
Krebsbach, PH ;
Bartlett, JD ;
Butler, WT .
EUROPEAN JOURNAL OF ORAL SCIENCES, 1998, 106 (05) :963-970
[6]   A novel mutation identified in the DFNA5 gene in a Dutch family:: A clinical and genetic evaluation [J].
Bischoff, AMLC ;
Luijendijk, MWJ ;
Huygen, PLM ;
van Duijnhoven, G ;
De Leenheer, EMR ;
Oudesluijs, GG ;
Van Laer, L ;
Cremers, FPM ;
Cremers, CWRJ ;
Kremer, H .
AUDIOLOGY AND NEURO-OTOLOGY, 2004, 9 (01) :34-46
[7]   Isolation, characterization, and chromosomal location of the mouse enamelysin gene [J].
Caterina, J ;
Shi, J ;
Krakora, S ;
Bartlett, JD ;
Engler, JA ;
Kozak, CA ;
Birkedal-Hansen, H .
GENOMICS, 1999, 62 (02) :308-311
[8]   Cloning, characterization, and expression analysis of mouse enamelysin [J].
Caterina, J ;
Shi, J ;
Sun, X ;
Qian, Q ;
Yamada, S ;
Liu, Y ;
Krakora, S ;
Bartlett, JD ;
Yamada, Y ;
Engler, JA ;
Birkedal-Hansen, H ;
Simmer, JP .
JOURNAL OF DENTAL RESEARCH, 2000, 79 (09) :1697-1703
[9]   Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype [J].
Caterina, JJ ;
Skobe, Z ;
Shi, J ;
Ding, YL ;
Simmer, JP ;
Birkedal-Hansen, H ;
Bartlett, JD .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (51) :49598-49604
[10]   Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human [J].
Clark, F ;
Thanaraj, TA .
HUMAN MOLECULAR GENETICS, 2002, 11 (04) :451-464
1234