Cleft palate: players, pathways, and pursuits

被引：137

作者：

Murray, JC ^{[1
]}

Schutte, BC

机构：

[1] Univ Iowa, Dept Pediat, MedLabs 2182, Iowa City, IA 52242 USA

[2] Univ Iowa, Craniofacial Anomalies Res Ctr, Iowa City, IA 52242 USA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2004年 / 113卷 / 12期

关键词：

D O I：

10.1172/JCI200422154

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Cleft lip and palate is a common human birth defect, and its causes are being dissected through studies of human populations and through the use of animal models. Mouse models in particular have made a substantial contribution to our understanding of the gene pathways involved in palate development and the nature of signaling molecules, that act in a tissue-specific manner at critical stages of embryogenesis (see the related article beginning on page 1692). Related work has provided further support for investigating the role of common environmental triggers as causal covariates.

引用

页码：1676 / 1678

页数：3

共 20 条

[1] Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPx patients [J].

Braybrook, C ;

Lisgo, S ;

Doudney, K ;

Henderson, D ;

Marçano, ACB ;

Strachan, T ;

Patton, MA ;

Villard, L ;

Moore, GE ;

Stanier, P ;

Lindsay, S .

HUMAN MOLECULAR GENETICS, 2002, 11 (22) :2793-2804

[2]

Centers for Disease Control and Prevention (CDC), 2004, MMWR Morb Mortal Wkly Rep, V53, P362

[3] Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome [J].

Dodé, C ;

Levilliers, J ;

Dupont, JM ;

De Paepe, A ;

Le Dû, N ;

Soussi-Yanicostas, N ;

Coimbra, RS ;

Delmaghani, S ;

Compain-Nouaille, S ;

Baverel, F ;

Pêcheux, C ;

Le Tessier, D ;

Cruaud, C ;

Delpech, M ;

Speleman, F ;

Vermeulen, S ;

Amalfitano, A ;

Bachelot, Y ;

Bouchard, P ;

Cabrol, S ;

Carel, JC ;

Delemarre-van de Waal, H ;

Goulet-Salmon, B ;

Kottler, ML ;

Richard, O ;

Sanchez-Franco, F ;

Saura, R ;

Young, J ;

Petit, C ;

Hardelin, JP .

NATURE GENETICS, 2003, 33 (04) :463-465

[4] Tgf-β3-induced palatal fusion is mediated by Alk-5/Smad pathway [J].

Dudas, M ;

Nagy, A ;

Laping, NJ ;

Moustakas, A ;

Kaartinen, V .

DEVELOPMENTAL BIOLOGY, 2004, 266 (01) :96-108

[5] Central nervous system and limb anomalies in case reports of first-trimester statin exposure [J].

Edison, RJ ;

Muenke, M .

NEW ENGLAND JOURNAL OF MEDICINE, 2004, 350 (15) :1579-1582

[6] Identification of SATB2 as the cleft palate gene on 2q32-q33 [J].

FitzPatrick, DR ;

Carr, IM ;

McLaren, L ;

Leek, JP ;

Wightman, P ;

Williamson, K ;

Gautier, P ;

McGill, N ;

Hayward, C ;

Firth, H ;

Markham, AF ;

Fantes, JA ;

Bonthron, DT .

HUMAN MOLECULAR GENETICS, 2003, 12 (19) :2491-2501

[7] Nonneuronal express, ion of the GABAA β3 subunit gene is required for normal palate development in mice [J].

Hagiwara, N ;

Katarova, Z ;

Siracusa, LD ;

Brillianta, MH .

DEVELOPMENTAL BIOLOGY, 2003, 254 (01) :93-101

[8]

Hayes C., 2002, CLEFT LIP PALATE, P159

[9] Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate [J].

Jezewski, PA ;

Vieira, AR ;

Nishimura, C ;

Ludwig, B ;

Johnson, M ;

O'Brien, SE ;

Daack-Hirsch, S ;

Schultz, RE ;

Weber, A ;

Nepomucena, B ;

Romitti, PA ;

Christensen, K ;

Orioli, IM ;

Castilla, EE ;

Machida, J ;

Natsume, N ;

Murray, JC .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (06) :399-407

[10] Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes [J].

Kondo, S ;

Schutte, BC ;

Richardson, RJ ;

Bjork, BC ;

Knight, AS ;

Watanabe, Y ;

Howard, E ;

de Lima, RLLF ;

Daack-Hirsch, S ;

Sander, A ;

McDonald-McGinn, DM ;

Zackai, EH ;

Lammer, EJ ;

Aylsworth, AS ;

Ardinger, HH ;

Lidral, AC ;

Pober, BR ;

Moreno, L ;

Arcos-Burgos, M ;

Valencia, C ;

Houdayer, C ;

Bahuau, M ;

Moretti-Ferreira, D ;

Richieri-Costa, A ;

Dixon, MJ ;

Murray, JC .

NATURE GENETICS, 2002, 32 (02) :285-289

← 1 2 →