Literature DB >> 23084143

Wakayama Symposium: Notch-FoxL2-α-SMA axis in eyelid levator muscle development and congenital blepharophimosis.

Chia-Yang Liu1.   

Abstract

This review summarizes our recent findings regarding the Notch signaling pathway in regulating normal eyelid morphogenesis and its role in the pathogenesis of human congenital blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). We used genetic and molecular biological approaches to investigate the mechanism by which Notch1 activation controls expression of FoxL2, which in turn activates smooth muscle actin gene expression in periocular mesenchyma to control eyelid levator smooth muscle formation.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 23084143      PMCID： PMC3495103          DOI： 10.1016/j.jtos.2012.07.003

Source DB:  PubMed          Journal:  Ocul Surf        ISSN： 1542-0124            Impact factor:   5.033


  13 in total

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2.  Orbital muscle of Müller: observations on human fetuses measuring 35-150 mm.

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3.  A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Authors:  Tristan W McMullan; John A Crolla; Simon G Gregory; Nigel P Carter; Rachel A Cooper; Gareth R Howell; David O Robinson
Journal:  Hum Genet       Date:  2002-02-01       Impact factor: 4.132

4.  The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance.

Authors:  Dirk Schmidt; Catherine E Ovitt; Katrin Anlag; Sandra Fehsenfeld; Lars Gredsted; Anna-Corina Treier; Mathias Treier
Journal:  Development       Date:  2004-01-21       Impact factor: 6.868

5.  FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate.

Authors:  Jie Huang; Lisa K Dattilo; Ramya Rajagopal; Ying Liu; Vesa Kaartinen; Yuji Mishina; Chu-Xia Deng; Lieve Umans; An Zwijsen; Anita B Roberts; David C Beebe
Journal:  Development       Date:  2009-04-15       Impact factor: 6.868

6.  Corneal epithelial cell fate is maintained during repair by Notch1 signaling via the regulation of vitamin A metabolism.

Authors:  Sophie Vauclair; François Majo; André-Dante Durham; Norbert B Ghyselinck; Yann Barrandon; Freddy Radtke
Journal:  Dev Cell       Date:  2007-08       Impact factor: 12.270

7.  FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

Authors:  Elfride De Baere; Diane Beysen; Christine Oley; Birgit Lorenz; Julie Cocquet; Paul De Sutter; Koen Devriendt; Michael Dixon; Marc Fellous; Jean-Pierre Fryns; Arturo Garza; Christoffer Jonsrud; Pasi A Koivisto; Amanda Krause; Bart P Leroy; Françoise Meire; Astrid Plomp; Lionel Van Maldergem; Anne De Paepe; Reiner Veitia; Ludwine Messiaen
Journal:  Am J Hum Genet       Date:  2003-01-14       Impact factor: 11.025

8.  The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Authors:  L Crisponi; M Deiana; A Loi; F Chiappe; M Uda; P Amati; L Bisceglia; L Zelante; R Nagaraja; S Porcu; M S Ristaldi; R Marzella; M Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; A Verloes; D Schlessinger; P Gasparini; D Bonneau; A Cao; G Pilia
Journal:  Nat Genet       Date:  2001-02       Impact factor: 38.330

9.  Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.

Authors:  Manuela Uda; Chris Ottolenghi; Laura Crisponi; Jose Elias Garcia; Manila Deiana; Wendy Kimber; Antonino Forabosco; Antonio Cao; David Schlessinger; Giuseppe Pilia
Journal:  Hum Mol Genet       Date:  2004-03-31       Impact factor: 6.150

10.  The hippo pathway promotes Notch signaling in regulation of cell differentiation, proliferation, and oocyte polarity.

Authors:  Jianzhong Yu; John Poulton; Yi-Chun Huang; Wu-Min Deng
Journal:  PLoS One       Date:  2008-03-12       Impact factor: 3.240
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  1 in total

1.  Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

Authors:  Yong Liu; Yu Cao; Yaxiong Li; Dongyun Lei; Lin Li; Zong Liu Hou; Shen Han; Mingyao Meng; Jianlin Shi; Yayong Zhang; Yi Wang; Zhaoyi Niu; Yanhua Xie; Benshan Xiao; Yuanfei Wang; Xiao Li; Lirong Yang; Wenju Wang; Lihong Jiang
Journal:  Med Sci Monit       Date:  2018-03-05
  1 in total

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