Ciliary proteins and exencephaly

被引:20
作者
Katsanis, N [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA
关键词
D O I
10.1038/ng0206-135
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Neural tube defects (NTDs) represent a broad and complex class of brain malformations, and despite much progress in understanding their etiology, many facets of neural tube development and closure remain obscure. Two new studies report the identification of the first two genes responsible for Meckel-Gruber syndrome, one of the major contributors to syndromic NTDs, and implicate defective cilia in its pathogenesis.
引用
收藏
页码:135 / 136
页数:2
相关论文
共 15 条
[1]   Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome [J].
Ansley, SJ ;
Badano, JL ;
Blacque, OE ;
Hill, J ;
Hoskins, BE ;
Leitch, CC ;
Kim, JC ;
Ross, AJ ;
Eichers, ER ;
Teslovich, TM ;
Mah, AK ;
Johnsen, RC ;
Cavender, JC ;
Lewis, RA ;
Leroux, MR ;
Beales, PL ;
Katsanis, N .
NATURE, 2003, 425 (6958) :628-633
[2]   Functional genomics of the cilium, a sensory organelle [J].
Blacque, OE ;
Perens, EA ;
Boroevich, KA ;
Inglis, PN ;
Li, CM ;
Warner, A ;
Khattra, J ;
Holt, RA ;
Ou, GS ;
Mah, AK ;
McKay, SJ ;
Huang, P ;
Swoboda, P ;
Jones, SJM ;
Marra, MA ;
Baillie, DL ;
Moerman, DG ;
Shaham, S ;
Leroux, MR .
CURRENT BIOLOGY, 2005, 15 (10) :935-941
[3]   Development of multiorgan pathology in the wpk rat model of polycystic kidney disease [J].
Gattone, VH ;
Tourkow, BA ;
Trambaugh, CM ;
Yu, AC ;
Whelan, S ;
Phillips, CL ;
Harris, PC ;
Peterson, RG .
ANATOMICAL RECORD PART A-DISCOVERIES IN MOLECULAR CELLULAR AND EVOLUTIONARY BIOLOGY, 2004, 277A (02) :384-395
[4]   Gli2 and Gli3 localize to cilia and require the intra-flagellar transport protein polaris for processing and function [J].
Haycraft, CJ ;
Banizs, B ;
Aydin-Son, Y ;
Zhang, QH ;
Michaud, EJ ;
Yoder, BK .
PLOS GENETICS, 2005, 1 (04) :480-488
[5]   Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease? [J].
Hildebrandt, F ;
Otto, E .
NATURE REVIEWS GENETICS, 2005, 6 (12) :928-940
[6]   Hedgehog signalling in the mouse requires intraflagellar transport proteins [J].
Huangfu, DW ;
Liu, AM ;
Rakeman, AS ;
Murcia, NS ;
Niswander, L ;
Anderson, KV .
NATURE, 2003, 426 (6962) :83-87
[7]   Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome [J].
Karmous-Benailly, H ;
Martinovic, J ;
Gubler, MC ;
Sirot, Y ;
Clech, L ;
Ozilou, C ;
Augé, J ;
Brahimi, N ;
Etchevers, H ;
Detrait, E ;
Esculpavit, C ;
Audollent, S ;
Goudefroye, G ;
Gonzales, M ;
Tantau, J ;
Loget, P ;
Joubert, M ;
Gaillard, D ;
Jeanne-Pasquier, C ;
Delezoide, AL ;
Peter, MO ;
Plessis, G ;
Simon-Bouy, B ;
Dollfus, H ;
Le Merrer, M ;
Munnich, A ;
Encha-Razavi, F ;
Vekemans, M ;
Attié-Bitach, T .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (03) :493-504
[8]   MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome [J].
Kyttälä, M ;
Tallila, J ;
Salonen, R ;
Kopra, O ;
Kohlschmidt, N ;
Paavola-Sakki, P ;
Peltonen, L ;
Kestïla, M .
NATURE GENETICS, 2006, 38 (02) :155-157
[9]   Comparative and basal genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene [J].
Li, JB ;
Gerdes, JM ;
Haycraft, CJ ;
Fan, YL ;
Teslovich, TM ;
May-Simera, H ;
Li, HT ;
Blacque, OE ;
Li, LY ;
Leitch, CC ;
Lewis, RA ;
Green, JS ;
Parfrey, PS ;
Leroux, MR ;
Davidson, WS ;
Beales, PL ;
Guay-Woodford, LM ;
Yoder, BK ;
Stormo, GD ;
Katsanis, N ;
Dutcher, SK .
CELL, 2004, 117 (04) :541-552
[10]  
Nauta J, 2000, J AM SOC NEPHROL, V11, P2272, DOI 10.1681/ASN.V11122272