Literature DB >> 25820983

Facing up to the challenges of advancing Craniofacial Research.

Paul A Trainor1,2, Joan T Richtsmeier3,4.   

Abstract

Craniofacial anomalies are among the most common human birth defects and have considerable functional, aesthetic, and social consequences. The early developmental origin as well as the anatomical complexity of the head and face render these tissues prone to genetic and environmental insult. The establishment of craniofacial clinics offering comprehensive care for craniofacial patients at a single site together with international research networks focused on the origins and treatment of craniofacial disorders has led to tremendous advances in our understanding of the etiology and pathogenesis of congenital craniofacial anomalies. However, the genetic, environmental, and developmental sources of many craniofacial disorders remain unknown. To overcome this problem and further advance craniofacial research, we must recognize current challenges in the field and establish priority areas for study. We still need (i) a deeper understanding of variation during normal development and within the context of any disorder, (ii) improved genotyping and phenotyping and understanding of the impact of epigenetics, (iii) continued development of animal models and functional analyses of genes and variants, and (iv) integration of patient derived cells and tissues together with 3D printing and quantitative assessment of surgical outcomes for improved practice. Only with fundamental advances in each of these areas will we be able to meet the challenge of translating potential therapeutic and preventative approaches into clinical solutions and reduce the financial and emotional burden of craniofacial anomalies.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  craniofacial anomaly; development; genetics

Mesh:

Year:  2015        PMID: 25820983      PMCID: PMC4478228          DOI: 10.1002/ajmg.a.37065

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  16 in total

Review 1.  The many faces and factors of orofacial clefts.

Authors:  B C Schutte; J C Murray
Journal:  Hum Mol Genet       Date:  1999       Impact factor: 6.150

Review 2.  Regenerative medicine: implications for craniofacial surgery.

Authors:  Jan-Thorsten Schantz; Hans-Günther Machens; Arndt F Schilling; Swee-Hin Teoh
Journal:  J Craniofac Surg       Date:  2012-03       Impact factor: 1.046

3.  Craniosynostosis.

Authors:  David Johnson; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

4.  Embryonic bauplans and the developmental origins of facial diversity and constraint.

Authors:  Nathan M Young; Diane Hu; Alexis J Lainoff; Francis J Smith; Raul Diaz; Abigail S Tucker; Paul A Trainor; Richard A Schneider; Benedikt Hallgrímsson; Ralph S Marcucio
Journal:  Development       Date:  2014-03       Impact factor: 6.868

5.  Samuel Pruzansky and the Center for Craniofacial Anomalies.

Authors:  C I Kaye; B R Rollnick
Journal:  J Craniofac Genet Dev Biol Suppl       Date:  1985

6.  Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Authors:  Yann Heuzé; Gregory Holmes; Inga Peter; Joan T Richtsmeier; Ethylin Wang Jabs
Journal:  Curr Genet Med Rep       Date:  2014-09-01

Review 7.  Stakeholders in outcome measures: review from a clinical perspective.

Authors:  Mark R Brinker; Daniel P O'Connor
Journal:  Clin Orthop Relat Res       Date:  2013-11       Impact factor: 4.176

8.  Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape.

Authors:  Nathan M Young; H Jonathan Chong; Diane Hu; Benedikt Hallgrímsson; Ralph S Marcucio
Journal:  Development       Date:  2010-09-08       Impact factor: 6.868

Review 9.  Genetic causes of syndromic craniosynostoses.

Authors:  Aleksandra Jezela-Stanek; Małgorzata Krajewska-Walasek
Journal:  Eur J Paediatr Neurol       Date:  2012-10-11       Impact factor: 3.140

10.  Perspectives and challenges in advancing research into craniofacial anomalies.

Authors:  Timothy C Cox; Daniela V Luquetti; Michael L Cunningham
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-18       Impact factor: 3.908

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  5 in total

Review 1.  Three-Dimensional Printing: Custom-Made Implants for Craniomaxillofacial Reconstructive Surgery.

Authors:  Mariana Matias; Horácio Zenha; Horácio Costa
Journal:  Craniomaxillofac Trauma Reconstr       Date:  2017-01-03

Review 2.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

3.  Nonlinear gene expression-phenotype relationships contribute to variation and clefting in the A/WySn mouse.

Authors:  Rebecca M Green; Courtney L Leach; Virginia M Diewert; Jose David Aponte; Eric J Schmidt; James M Cheverud; Charles C Roseman; Nathan M Young; Ralph S Marcucio; Benedikt Hallgrimsson
Journal:  Dev Dyn       Date:  2019-09-14       Impact factor: 3.780

Review 4.  Genetic Disorders of Dental Development: Tales from the Bony Crypt.

Authors:  Sylvia A Frazier-Bowers; Siddharth R Vora
Journal:  Curr Osteoporos Rep       Date:  2017-02       Impact factor: 5.096

5.  A Natural Animal Model System of Craniofacial Anomalies: The Blind Mexican Cavefish.

Authors:  Joshua B Gross; Amanda K Powers
Journal:  Anat Rec (Hoboken)       Date:  2018-11-22       Impact factor: 2.064

  5 in total

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