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Laurie H Glimcher - One of the best experts on this subject based on the ideXlab platform.

  • the e3 ubiquitin ligase wwp2 regulates Craniofacial Development through mono ubiquitylation of goosecoid
    Nature Cell Biology, 2011
    Co-Authors: Weiguo Zou, Xi Chen, Jaehyuck Shim, Zhiwei Huang, Nicholas J Brady, Rebecca Drapp, Kirsten Sigrist, Laurie H Glimcher, Dallas C Jones
    Abstract:

    Craniofacial anomalies (CFAs) are the most frequently occurring human congenital disease, and a major cause of infant mortality and childhood morbidity. Although CFAs seems to arise from a combination of genetic factors and environmental influences, the underlying gene defects and pathophysiological mechanisms for most CFAs are currently unknown. Here we reveal a role for the E3 ubiquitin ligase Wwp2 in regulating Craniofacial patterning. Mice deficient in Wwp2 develop malformations of the Craniofacial region. Wwp2 is present in cartilage where its expression is controlled by Sox9. Our studies demonstrate that Wwp2 influences Craniofacial patterning through its interactions with Goosecoid (Gsc), a paired-like homeobox transcription factor that has an important role in Craniofacial Development. We show that Wwp2-associated Gsc is a transcriptional activator of the key cartilage regulatory protein Sox6. Wwp2 interacts with Gsc to facilitate its mono-ubiquitylation, a post-translational modification required for optimal transcriptional activation of Gsc. Our results identify for the first time a physiological pathway regulated by Wwp2 in vivo, and also a unique non-proteolytic mechanism through which Wwp2 controls Craniofacial Development.

  • The E3 ubiquitin ligase Wwp2 regulates Craniofacial Development through mono-ubiquitylation of Goosecoid. Nat Cell Biol 13: 59–65
    2011
    Co-Authors: Weiguo Zou, Xi Chen, Zhiwei Huang, Kirsten Sigrist, Laurie H Glimcher, Jae Shim, Nicholas Brady, Dallas Jones
    Abstract:

    Craniofacial anomalies (CFA) are the most frequent human congenital disease and a major cause of infant mortality and childhood morbidity. Although CFA appear to arise from a combination of genetic factors and environmental influences, the underlying gene defects and pathomechanisms for the majority of CFA are currently unknown. Here we reveal an unknown role for the E3 ubiquitin ligase Wwp2 in regulating Craniofacial patterning. Mice deficient for Wwp2 develop malformations of the Craniofacial region. Wwp2 is present in cartilage where its expression is controlled by Sox9. Our studies demonstrate that Wwp2 influences Craniofacial patterning through its interactions with Goosecoid (Gsc), a paired-like homeobox transcription factor that plays an important role in Craniofacial Development. We show that Wwp2 associated Gsc is a transcriptional activator of the key cartilage regulatory protein Sox6. Wwp2 interacts with Gsc to facilitate its mono-ubiquitination, a post-translational modification required for optimal transcriptional activation of Gsc. Our results identify the first physiological pathway regulated by Wwp2 in vivo as well as identify a unique non-proteolytic mechanism through which the Wwp2 controls Craniofacial Development

Dallas C Jones - One of the best experts on this subject based on the ideXlab platform.

  • the e3 ubiquitin ligase wwp2 regulates Craniofacial Development through mono ubiquitylation of goosecoid
    Nature Cell Biology, 2011
    Co-Authors: Weiguo Zou, Xi Chen, Jaehyuck Shim, Zhiwei Huang, Nicholas J Brady, Rebecca Drapp, Kirsten Sigrist, Laurie H Glimcher, Dallas C Jones
    Abstract:

    Craniofacial anomalies (CFAs) are the most frequently occurring human congenital disease, and a major cause of infant mortality and childhood morbidity. Although CFAs seems to arise from a combination of genetic factors and environmental influences, the underlying gene defects and pathophysiological mechanisms for most CFAs are currently unknown. Here we reveal a role for the E3 ubiquitin ligase Wwp2 in regulating Craniofacial patterning. Mice deficient in Wwp2 develop malformations of the Craniofacial region. Wwp2 is present in cartilage where its expression is controlled by Sox9. Our studies demonstrate that Wwp2 influences Craniofacial patterning through its interactions with Goosecoid (Gsc), a paired-like homeobox transcription factor that has an important role in Craniofacial Development. We show that Wwp2-associated Gsc is a transcriptional activator of the key cartilage regulatory protein Sox6. Wwp2 interacts with Gsc to facilitate its mono-ubiquitylation, a post-translational modification required for optimal transcriptional activation of Gsc. Our results identify for the first time a physiological pathway regulated by Wwp2 in vivo, and also a unique non-proteolytic mechanism through which Wwp2 controls Craniofacial Development.

Graham R. Williams - One of the best experts on this subject based on the ideXlab platform.

  • Role of thyroid hormones in Craniofacial Development
    Nature Reviews Endocrinology, 2020
    Co-Authors: Victoria D. Leitch, J. H. Duncan Bassett, Graham R. Williams
    Abstract:

    The Development of the Craniofacial skeleton relies on complex temporospatial organization of diverse cell types by key signalling molecules. Even minor disruptions to these processes can result in deleterious consequences for the structure and function of the skull. Thyroid hormone deficiency causes delayed Craniofacial and tooth Development, dysplastic facial features and delayed Development of the ossicles in the middle ear. Thyroid hormone excess, by contrast, accelerates Development of the skull and, in severe cases, might lead to craniosynostosis with neurological sequelae and facial hypoplasia. The pathogenesis of these important abnormalities remains poorly understood and underinvestigated. The orchestration of Craniofacial Development and regulation of suture and synchondrosis growth is dependent on several critical signalling pathways. The underlying mechanisms by which these key pathways regulate Craniofacial growth and maturation are largely unclear, but studies of single-gene disorders resulting in Craniofacial malformations have identified a number of critical signalling molecules and receptors. The Craniofacial consequences resulting from gain-of-function and loss-of-function mutations affecting insulin-like growth factor 1, fibroblast growth factor receptor and WNT signalling are similar to the effects of altered thyroid status and mutations affecting thyroid hormone action, suggesting that these critical pathways interact in the regulation of Craniofacial Development. This article discusses the role of thyroid hormones in Craniofacial bone formation. The clinical consequences of thyroid hormone excess and deficiency are also outlined. Thyroid hormone deficiency during Development results in delayed intramembranous and endochondral ossification in the skull, which manifests as patent or persistent fontanelles, patent sutures, delayed dentition, wormian bones and deafness. Thyroid hormone excess during Development results in advanced intramembranous and endochondral ossification in the skull, which manifests as premature fusion of the calvarial sutures and cranial base synchondroses. These characteristic Craniofacial malformations indicate that thyroid hormones have a pivotal role in Development and growth of the Craniofacial skeleton and demonstrate that the skull is exquisitely sensitive to changes in thyroid status. Thyroid hormone-induced changes in fibroblast growth factor receptor, insulin-like growth factor 1 and WNT signalling in osteoblasts and chondrocytes indicate that these pathways are intricately involved in the regulation of Craniofacial Development by T_3.

Peter Thorogood - One of the best experts on this subject based on the ideXlab platform.

  • Branchial HOX gene expression and human Craniofacial Development.
    Developmental biology, 1997
    Co-Authors: Isabelle Vieille-grosjean, Paul Hunt, Massimo Gulisano, Edoardo Boncinelli, Peter Thorogood
    Abstract:

    Abstract Members of theAntennapediaclass of homeobox genes, known as Hox genes, are believed to be pivotal in vertebrate Craniofacial Development. Here we show that eight members of paralogous groups 1, 2, 3, and 4 are expressed in the human embryonic hindbrain and branchial arches at 4 weeks of Development. The combinatorial patterns of expression of genes representing the first three paralogous groups parallel the patterns described for their homologues in various animal models, demonstrating a high degree of conservation of the branchial Hox code. Arch expression of group 4 genes is defined for the first time in any vertebrate. Furthermore, as Development proceeds, individual paralogues of a single paralogous group (group 3), which initially share a common expression domain, are differentially down-regulated in a tissue-, organ-, or site-specific fashion.

  • Retinoic acid and retinoic acid receptors in Craniofacial Development.
    Seminars in cell & developmental biology, 1997
    Co-Authors: Paul M. Brickell, Peter Thorogood
    Abstract:

    Interest in retinoids and Craniofacial Development originated independently from nutritional and teratological studies; however, the site of action of retinoids in normal Development remains contentious. Recent transgenic strategies have shown that retinoic acid and nuclear retinoid receptors are required for the morphogenetic specification of cranial neural crest cells and their mesenchymal derivatives during Craniofacial Development. Interestingly, while some aspects of the RA teratogenicity have been shown to be receptor-mediated, there is as yet no clear evidence that this is the case for the embryonic head and face. Hox genes are one important set of targets for RA in the developing neural primordium and cranial neural crest, but it remains unclear as to how retinoid-mediated regulation of such targets is realized as the morphogenetic specification of cell fate.

  • Heads and tales: recent advances in Craniofacial Development.
    British dental journal, 1992
    Co-Authors: Peter Thorogood, Patrizia Ferretti
    Abstract:

    In the last few years, our understanding of the complex series of events governing Craniofacial morphogenesis has significantly increased. A variety of experimental approaches, such as cell lineage marking, monoclonal antibodies, organ culture and recombinant DNA techniques, have been fundamental to this progress. The neural crest contribution to the head and face of the embryo has been mapped, the significance and mechanisms of epithelial-mesenchymal interactions are better understood, and a number of regulatory molecules, which are likely to be causally involved in mediating the morphogenesis of the different Craniofacial regions, have been identified. Although the information presently available on the molecules involved is far from complete, and the experimental strategies need further refinement, the existence of specific combinatorial gene-codes (ie the homeobox-containing gene code) has become evident. These findings are proving invaluable to our understanding of the mechanisms underlying Craniofacial Development, and of certain syndromes affecting Craniofacial structures in humans

Weiguo Zou - One of the best experts on this subject based on the ideXlab platform.

  • the e3 ubiquitin ligase wwp2 regulates Craniofacial Development through mono ubiquitylation of goosecoid
    Nature Cell Biology, 2011
    Co-Authors: Weiguo Zou, Xi Chen, Jaehyuck Shim, Zhiwei Huang, Nicholas J Brady, Rebecca Drapp, Kirsten Sigrist, Laurie H Glimcher, Dallas C Jones
    Abstract:

    Craniofacial anomalies (CFAs) are the most frequently occurring human congenital disease, and a major cause of infant mortality and childhood morbidity. Although CFAs seems to arise from a combination of genetic factors and environmental influences, the underlying gene defects and pathophysiological mechanisms for most CFAs are currently unknown. Here we reveal a role for the E3 ubiquitin ligase Wwp2 in regulating Craniofacial patterning. Mice deficient in Wwp2 develop malformations of the Craniofacial region. Wwp2 is present in cartilage where its expression is controlled by Sox9. Our studies demonstrate that Wwp2 influences Craniofacial patterning through its interactions with Goosecoid (Gsc), a paired-like homeobox transcription factor that has an important role in Craniofacial Development. We show that Wwp2-associated Gsc is a transcriptional activator of the key cartilage regulatory protein Sox6. Wwp2 interacts with Gsc to facilitate its mono-ubiquitylation, a post-translational modification required for optimal transcriptional activation of Gsc. Our results identify for the first time a physiological pathway regulated by Wwp2 in vivo, and also a unique non-proteolytic mechanism through which Wwp2 controls Craniofacial Development.

  • The E3 ubiquitin ligase Wwp2 regulates Craniofacial Development through mono-ubiquitylation of Goosecoid. Nat Cell Biol 13: 59–65
    2011
    Co-Authors: Weiguo Zou, Xi Chen, Zhiwei Huang, Kirsten Sigrist, Laurie H Glimcher, Jae Shim, Nicholas Brady, Dallas Jones
    Abstract:

    Craniofacial anomalies (CFA) are the most frequent human congenital disease and a major cause of infant mortality and childhood morbidity. Although CFA appear to arise from a combination of genetic factors and environmental influences, the underlying gene defects and pathomechanisms for the majority of CFA are currently unknown. Here we reveal an unknown role for the E3 ubiquitin ligase Wwp2 in regulating Craniofacial patterning. Mice deficient for Wwp2 develop malformations of the Craniofacial region. Wwp2 is present in cartilage where its expression is controlled by Sox9. Our studies demonstrate that Wwp2 influences Craniofacial patterning through its interactions with Goosecoid (Gsc), a paired-like homeobox transcription factor that plays an important role in Craniofacial Development. We show that Wwp2 associated Gsc is a transcriptional activator of the key cartilage regulatory protein Sox6. Wwp2 interacts with Gsc to facilitate its mono-ubiquitination, a post-translational modification required for optimal transcriptional activation of Gsc. Our results identify the first physiological pathway regulated by Wwp2 in vivo as well as identify a unique non-proteolytic mechanism through which the Wwp2 controls Craniofacial Development