5 results found
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    1. Developmental Biology
    2. Stem Cells and Regenerative Medicine

    Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome

    Camilla S Teng et al.
    Sequential live imaging of abnormal skull bone fusion in zebrafish reveals a deeply conserved role of two transcription factors, Twist1 and Tcf12, in regulating stem cell activity during growth of the skull.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Craniosynostosis: An epistatic explanation

    Yoshihiro Komatsu, Yuji Mishina
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    1. Developmental Biology

    Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis

    Neus Martínez-Abadías et al.
    Quantitative analyses associating the morphology of developing organs with dynamic gene expression patterns can reveal biological phenomena that cause malformations and malfunction but remain elusive to traditional qualitative assessments.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Elucidation of a four-site allosteric network in fibroblast growth factor receptor tyrosine kinases

    Huaibin Chen et al.
    A four-switch long-range allosteric network controls FGF receptor kinase conformational dynamics as well as activity and is applicable to other receptor tyrosine kinases.

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