12 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. Developmental Biology
    2. Medicine

    RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1

    Md Rakibul Hasan et al.
    RAB23 regulates calvarial bone and suture development both independently through, and by cross-talk between, Hedgehog and fibroblast growth factor signaling.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Craniosynostosis: An epistatic explanation

    Yoshihiro Komatsu, Yuji Mishina
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    1. Developmental Biology

    Neural crest-specific deletion of Rbfox2 in mice leads to craniofacial abnormalities including cleft palate

    Dasan Mary Cibi et al.
    The identification of the splicing code and all the required components of alternative splicing will be crucial for a comprehensive understanding of this process in the neural crest cell biology.
    1. Developmental Biology
    2. Evolutionary Biology

    Resolving homology in the face of shifting germ layer origins: Lessons from a major skull vault boundary

    Camilla S Teng et al.
    Homology of vertebrate skull structures should be based on evolutionary continuity and an appreciation of germ layer origins and inductive signaling in the embryonic head.
    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. Cell Biology
    2. Developmental Biology

    TWIST1 and chromatin regulatory proteins interact to guide neural crest cell differentiation

    Xiaochen Fan et al.
    Network propagation connects TWIST1 with epigenetic regulators CHD7, CHD8, and WHSC1, which collectively promote the bias toward neural crest while suppressing neural stem cell programmes, and subsequently enhance ectomesenchyme potential.
    1. Biochemistry and Chemical Biology
    2. Chromosomes and Gene Expression

    Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

    Ilaria Gori et al.
    The mechanism underlying Shprintzen–Goldberg syndrome is solved and reveals that missense mutations in the transcriptional repressor SKI abolish ligand-induced SKI degradation, which results in attenuation of TGF-β transcriptional responses.
    1. Stem Cells and Regenerative Medicine

    Transcriptional landscape of myogenesis from human pluripotent stem cells reveals a key role of TWIST1 in maintenance of skeletal muscle progenitors

    In Young Choi et al.
    Using multiple genetic reporter system in human pluripotent stem cells, a transcriptional database for human early myogenesis has been established.

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