Splitting p63

被引：156

作者：

van Bokhoven, H ^{[1
]}

Brunner, HG ^{[1
]}

机构：

[1] Univ Nijmegen, Med Ctr 417, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 01期

关键词：

D O I：

10.1086/341450

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation.

引用

页码：1 / 13

页数：13

共 70 条

[1] TP63 gene mutation in ADULT syndrome [J].

Amiel, J ;

Bougeard, G ;

Francannet, C ;

Raclin, V ;

Munnich, A ;

Lyonnet, S ;

Frebourg, T .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (08) :642-645

[2] Zebrafish ΔNp63 is a direct target of bmp signaling and encodes a transcriptional repressor blocking neural specification in the ventral ectoderm [J].

Bakkers, J ;

Hild, M ;

Kramer, C ;

Furutani-Seiki, M ;

Hammerschmidt, M .

DEVELOPMENTAL CELL, 2002, 2 (05) :617-627

[3] Retinoic acid inhibits downregulation of ΔNp63α expression during terminal differentiation of human primary keratinocytes [J].

Bamberger, C ;

Pollet, D ;

Schmale, H .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 118 (01) :133-138

[4] Identification and tissue distribution of novel KET/p63 splice variants [J].

Bamberger, C ;

Schmale, H .

FEBS LETTERS, 2001, 501 (2-3) :121-126

[5]

Bamshad M, 2000, AM J MED GENET, V90, P183, DOI 10.1002/(SICI)1096-8628(20000117)90:2<183::AID-AJMG22>3.0.CO

[6]

2-#

[7]

BARROW LL, IN PRESS AM J MED GE

[8] Predicting functions from protein sequences - where are the bottlenecks? [J].

Bork, P ;

Koonin, EV .

NATURE GENETICS, 1998, 18 (04) :313-318

[9] The human MDM2 oncoprotein increases the transcriptional activity and the protein level of the p53 homolog p63 [J].

Calabrò, V ;

Mansueto, G ;

Parisi, T ;

Vivo, M ;

Calogero, RA ;

La Mantia, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (04) :2674-2681

[10] Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome [J].

Celli, J ;

Duijf, P ;

Hamel, BCJ ;

Bamshad, M ;

Kramer, B ;

Smits, APT ;

Newbury-Ecob, R ;

Hennekam, RCM ;

Van Buggenhout, G ;

van Haeringen, B ;

Woods, CG ;

van Essen, AJ ;

de Waal, R ;

Vriend, G ;

Haber, DA ;

Yang, A ;

McKeon, F ;

Brunner, HG ;

van Bokhoven, H .

CELL, 1999, 99 (02) :143-153

← 1 2 3 4 5 6 7 →