78 results found
    1. Developmental Biology

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

    Dasan Mary Cibi, Masum M Mia ... Manvendra K Singh
    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. Ecology
    2. Genetics and Genomics

    Novel adverse outcome pathways revealed by chemical genetics in a developing marine fish

    Elin Sørhus, John P Incardona ... Sissel Jentoft
    Global gene expression analysis unravels the underlying mechanisms for distinct crude oil induced defects in Atlantic haddock eggs and larvae.
    1. Cell Biology
    2. Developmental Biology

    Control of craniofacial development by the collagen receptor, discoidin domain receptor 2

    Fatma F Mohamed, Chunxi Ge ... Renny T Franceschi
    Discoidin domain receptor 2 controls craniofacial morphology by acting in skeletal progenitor cells and chondrocytes to control collagen matrix organization, chondrocyte polarity, and growth.
    1. Developmental Biology
    2. Neuroscience

    MEGF8 is a modifier of BMP signaling in trigeminal sensory neurons

    Caitlin Engelhard, Sarah Sarsfield ... David D Ginty
    A protein called Megf8 regulates the activity of key signaling molecules involved in the development of the peripheral nervous system.
    1. Developmental Biology

    The novel ciliogenesis regulator DYRK2 governs Hedgehog signaling during mouse embryogenesis

    Saishu Yoshida, Katsuhiko Aoki ... Kiyotsugu Yoshida
    DYRK2 regulator governs the mammalian ciliogenesis to maintain proper embryogenesis via activation of the Hh signaling during development in vivo.
    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, Jungmin Choi ... Richard P Lifton
    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. Computational and Systems Biology
    2. Medicine

    Diagnostically relevant facial gestalt information from ordinary photos

    Quentin Ferry, Julia Steinberg ... Christoffer Nellåker
    An automatic computer vision analysis approach can assist in the diagnosis of rare genetic disorders by using ordinary photographs of patients.
    1. Genetics and Genomics

    Relating multivariate shapes to genescapes using phenotype-biological process associations for craniofacial shape

    Jose D Aponte, David C Katz ... Benedikt Hallgrímsson
    Multivariate genotype-phenotype mapping enables quantification of pathway and process-level effects on complex phenotypes and predicts phenotypic effects of novel mutations.
    1. Cancer Biology

    Tsc2 disruption in mesenchymal progenitors results in tumors with vascular anomalies overexpressing Lgals3

    Peter J Klover, Rajesh L Thangapazham ... Thomas N Darling
    Tsc2 inactivation in mouse mesenchymal progenitors produced tumors with vascular anomalies reminiscent of human angiomyolipomas, and a gene expression signature in Tsc2-deficient tissues which included Lgals3, as a novel potential biomarker for TSC1/2 loss.
    1. Developmental Biology

    Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse

    Céline Portal, Panteleimos Rompolas ... Carlo Iomini
    Primary cilia of neural crest-derived cells mediate Indian hedgehog-induced signal transduction in the periocular mesenchyme and are required for normal anterior segment development.

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