Literature DB >> 17981355

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Erwin Pauws1, Philip Stanier.   

Abstract

Owing to the complex aetiology and the variable penetrance of cleft lip and/or palate (CL/P), understanding the molecular basis has been challenging. Recent reports have identified two independent biochemical pathways that will help to elucidate the underlying pathology. Fibroblast growth factor signalling, previously known for its involvement in craniofacial development, is now implicated in the genetic basis of both syndromic and non-syndromic CL/P. At the same time, an important role in lip and palate development is beginning to emerge for small ubiquitin-like modifier modification, a widely used posttranslational regulatory mechanism. Both of these pathways might interact with environmental risk factors for CL/P. Here we review their contribution to normal and abnormal orofacial development.

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Year:  2007        PMID: 17981355     DOI: 10.1016/j.tig.2007.09.002

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  23 in total

Review 1.  Cardiac function and disease: emerging role of small ubiquitin-related modifier.

Authors:  Jun Wang
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2010-12-31

2.  Small ubiquitin-related modifier (SUMO) binding determines substrate recognition and paralog-selective SUMO modification.

Authors:  Jianmei Zhu; Shanshan Zhu; Catherine M Guzzo; Nathan A Ellis; Ki Sa Sung; Cheol Yong Choi; Michael J Matunis
Journal:  J Biol Chem       Date:  2008-08-15       Impact factor: 5.157

Review 3.  Genetics of nonsyndromic orofacial clefts.

Authors:  Fedik Rahimov; Astanand Jugessur; Jeffrey C Murray
Journal:  Cleft Palate Craniofac J       Date:  2011-05-05

Review 4.  Palate morphogenesis: current understanding and future directions.

Authors:  Robert M Greene; M Michele Pisano
Journal:  Birth Defects Res C Embryo Today       Date:  2010-06

5.  Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia.

Authors:  Astanand Jugessur; Min Shi; Håkon Kristian Gjessing; Rolv Terje Lie; Allen James Wilcox; Clarice Ring Weinberg; Kaare Christensen; Abee Lowman Boyles; Sandra Daack-Hirsch; Truc Trung Nguyen; Lene Christiansen; Andrew Carl Lidral; Jeffrey Clark Murray
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-12-07

6.  Enhanced desumoylation in murine hearts by overexpressed SENP2 leads to congenital heart defects and cardiac dysfunction.

Authors:  Eun Young Kim; Li Chen; Yanlin Ma; Wei Yu; Jiang Chang; Ivan P Moskowitz; Jun Wang
Journal:  J Mol Cell Cardiol       Date:  2011-12-01       Impact factor: 5.000

7.  The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.

Authors:  Sun J Choi; Mary L Marazita; P Suzanne Hart; Pawel P Sulima; L Leigh Field; Toby Goldstein McHenry; Manika Govil; Margaret E Cooper; Ariadne Letra; Renato Menezes; Somnya Narayanan; Maria Adela Mansilla; José M Granjeiro; Alexandre R Vieira; Andrew C Lidral; Jeffrey C Murray; Thomas C Hart
Journal:  Eur J Hum Genet       Date:  2008-12-17       Impact factor: 4.246

8.  Fgf8 dosage determines midfacial integration and polarity within the nasal and optic capsules.

Authors:  John N Griffin; Claudia Compagnucci; Diane Hu; Jennifer Fish; Ophir Klein; Ralph Marcucio; Michael J Depew
Journal:  Dev Biol       Date:  2012-11-29       Impact factor: 3.582

9.  Identification of microdeletions in candidate genes for cleft lip and/or palate.

Authors:  Min Shi; Adrianna Mostowska; Astanand Jugessur; Marla K Johnson; Maria Adela Mansilla; Kaare Christensen; Rolv T Lie; Allen J Wilcox; Jeffrey C Murray
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-01

10.  Cleft lip and palate genetics and application in early embryological development.

Authors:  Wenli Yu; Maria Serrano; Symone San Miguel; L Bruno Ruest; Kathy K H Svoboda
Journal:  Indian J Plast Surg       Date:  2009-10
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