Literature DB >> 24422088

Further insights into the genetic basis of craniosynostosis.

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Abstract

Entities:  

Year:  2013        PMID： 24422088      PMCID： PMC3692254          DOI： 10.1038/bonekey.2013.85

Source DB:  PubMed          Journal:  Bonekey Rep        ISSN： 2047-6396


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  2 in total

1.  Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Authors:  Vikram P Sharma; Aimée L Fenwick; Mia S Brockop; Simon J McGowan; Jacqueline A C Goos; A Jeannette M Hoogeboom; Angela F Brady; Nu Owase Jeelani; Sally Ann Lynch; John B Mulliken; Dylan J Murray; Julie M Phipps; Elizabeth Sweeney; Susan E Tomkins; Louise C Wilson; Sophia Bennett; Richard J Cornall; John Broxholme; Alexander Kanapin; David Johnson; Steven A Wall; Peter J van der Spek; Irene M J Mathijssen; Robert E Maxson; Stephen R F Twigg; Andrew O M Wilkie
Journal:  Nat Genet       Date:  2013-01-27       Impact factor: 38.330

2.  Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Authors:  Stephen R F Twigg; Elena Vorgia; Simon J McGowan; Ioanna Peraki; Aimée L Fenwick; Vikram P Sharma; Maryline Allegra; Andreas Zaragkoulias; Elham Sadighi Akha; Samantha J L Knight; Helen Lord; Tracy Lester; Louise Izatt; Anne K Lampe; Shehla N Mohammed; Fiona J Stewart; Alain Verloes; Louise C Wilson; Chris Healy; Paul T Sharpe; Peter Hammond; Jim Hughes; Stephen Taylor; David Johnson; Steven A Wall; George Mavrothalassitis; Andrew O M Wilkie
Journal:  Nat Genet       Date:  2013-01-27       Impact factor: 38.330
  2 in total

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