Literature DB >> 23062756

Genetic causes of syndromic craniosynostoses.

Aleksandra Jezela-Stanek1, Małgorzata Krajewska-Walasek.   

Abstract

Syndromic craniosynostose exhibit variable clinical and genetic heterogeneity. Many of this disorders are caused by mutations in the fibroblast growth factor receptor genes: FGFR2, FGFR3 (encoding fibroblast growth factor receptors), TWIST1 (functions as an upstream regulator of FGFRs) and EFNB1 (gene encoding fibrillin1). However recent advances in molecular genetics have led to a discover of other genes implicated in different craniosynostosis syndromes.
Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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Year:  2012        PMID： 23062756     DOI： 10.1016/j.ejpn.2012.09.009

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


  7 in total

1.  Facing up to the challenges of advancing Craniofacial Research.

Authors:  Paul A Trainor; Joan T Richtsmeier
Journal:  Am J Med Genet A       Date:  2015-03-28       Impact factor: 2.802

2.  Atypical Skin Manifestations in FGFR2-Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Authors:  Shannon LeBlanc; David David; Alison Colley; Michael Buckley; Tony Roscioli; Christopher Barnett
Journal:  Mol Syndromol       Date:  2018-04-24

Review 3.  Insights into morphology and disease from the dog genome project.

Authors:  Jeffrey J Schoenebeck; Elaine A Ostrander
Journal:  Annu Rev Cell Dev Biol       Date:  2014-07-09       Impact factor: 13.827

4.  Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

Authors:  Hercílio-Martelli Júnior; Sibele-Nascimento de Aquino; Renato-Assis Machado; Letícia-Lima Leão; Ricardo-Della Coletta; Marcos-José Burle-Aguiar
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2015-01-01

5.  The suture provides a niche for mesenchymal stem cells of craniofacial bones.

Authors:  Hu Zhao; Jifan Feng; Thach-Vu Ho; Weston Grimes; Mark Urata; Yang Chai
Journal:  Nat Cell Biol       Date:  2015-03-23       Impact factor: 28.824

Review 6.  Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

Authors:  Marcella Zollino; Serena Lattante; Daniela Orteschi; Silvia Frangella; Paolo N Doronzio; Ilaria Contaldo; Eugenio Mercuri; Giuseppe Marangi
Journal:  Front Neurosci       Date:  2017-10-18       Impact factor: 4.677

7.  Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.

Authors:  Mohammad Khursheed Alam; Ahmed Ali Alfawzan; Kumar Chandan Srivastava; Deepti Shrivastava; Kiran Kumar Ganji; Srinivas Munisekhar Manay
Journal:  Sci Rep       Date:  2022-04-05       Impact factor: 4.996
  7 in total

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