PRRX1 is mutated in a fetus with agnathia-otocephaly

被引：30
作者：
Sergi, C. [2 ]
Kamnasaran, D. [1 ,3 ]
机构：
[1] Univ Laval, Dept Pediat, Pediat Res Unit, Ctr Rech CHUL CHUQ, Quebec City, PQ G1V 4G2, Canada
[2] Univ Alberta Hosp, Dept Lab Med & Pathol, Edmonton, AB T6G 2R7, Canada
[3] Ctr Rech CHUL, Pediat Res Unit, Quebec City, PQ, Canada
来源：
CLINICAL GENETICS | 2011年 / 79卷 / 03期
关键词：
TENASCIN-C PROMOTER; GENE; MICE;
D O I：
10.1111/j.1399-0004.2010.01531.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：293 / 295
页数：3
相关论文
共 19 条
[1]   Otocephaly: Report of five new cases and a literature review [J].
Faye-Petersen, Ona ;
David, Elmer ;
Rangwala, Nikita ;
Seaman, James P. ;
Hua, Zhonxue ;
Heller, Debra S. .
FETAL AND PEDIATRIC PATHOLOGY, 2006, 25 (05) :277-296
[2]   The human homeodomain protein OTX2 binds to the human tenascin-C promoter and trans-represses its activity in transfected cells [J].
Gherzi, R ;
Briata, P ;
Boncinelli, E ;
Ponassi, M ;
Querze, G ;
Viti, F ;
Corte, G ;
Zardi, L .
DNA AND CELL BIOLOGY, 1997, 16 (05) :559-567
[3]   Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function [J].
Grobe, K ;
Inatani, M ;
Pallerla, SR ;
Castagnola, J ;
Yamaguchi, Y ;
Esko, JD .
DEVELOPMENT, 2005, 132 (16) :3777-3786
[4]  
Hide T, 2002, DEVELOPMENT, V129, P4347
[5]  
Kamnasaran D., 2010, FETAL PEDIATR PATHOL, V29 , P1
[6]  
KERCKRING T, 1717, SPICILEGIUM ANATOMIC, V60, P122
[7]   FAMILIAL AGNATHIA-HOLOPROSENCEPHALY CAUSED BY AN INHERITED UNBALANCED TRANSLOCATION AND NOT AUTOSOMAL RECESSIVE INHERITANCE [J].
KRASSIKOFF, N ;
SEKHON, GS .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (02) :255-257
[8]   AN ANATOMICAL STUDY OF HUMAN OTOCEPHALY [J].
LAWRENCE, DL ;
BERSU, ET .
TERATOLOGY, 1984, 30 (02) :155-165
[9]  
Lu MF, 1999, DEVELOPMENT, V126, P495
[10]   THE PAIRED-LIKE HOMEO BOX GENE MHOX IS REQUIRED FOR EARLY EVENTS OF SKELETOGENESIS IN MULTIPLE LINEAGES [J].
MARTIN, JF ;
BRADLEY, A ;
OLSON, EN .
GENES & DEVELOPMENT, 1995, 9 (10) :1237-1249
12