All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F18%3A00485269" target="_blank" >RIV/67985904:_____/18:00485269 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216305:26620/17:PU125189 RIV/00216224:14310/18:00102436

  • Result on the web

    <a href="http://dx.doi.org/10.1177/0022034517732538" target="_blank" >http://dx.doi.org/10.1177/0022034517732538</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1177/0022034517732538" target="_blank" >10.1177/0022034517732538</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

  • Original language description

    A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, MeckelGruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects. Here, we analyze a role of Tmem107 in craniofacial development with special focus on palate formation, using mouse embryos with a complete knockout of Tmem107. Tmem107(-/-) mice were affected by a broad spectrum of craniofacial defects, including shorter snout, expansion of the facial midline, cleft lip, extensive exencephaly, and microphthalmia or anophthalmia. External abnormalities were accompanied by defects in skeletal structures, including ossification delay in several membranous bones and enlargement of the nasal septum or defects in vomeronasal cartilage. Alteration in palatal shelves growth resulted in clefting of the secondary palate. Palatal defects were caused by increased mesenchymal proliferation leading to early overgrowth of palatal shelves followed by defects in their horizontalization. Moreover, the expression of epithelial stemness marker SOX2 was altered in the palatal shelves of Tmem107(-/-) animals, and differences in mesenchymal SOX9 expression demonstrated the enhancement of neural crest migration. Moreover, Shh and Gli1 expression was increased in Tmem107(-/-) animals as shown by in situ hybridization. Thus, TMEM107 is essential for proper head development, and defective TMEM107 function leads to ciliary morphology disruptions in a region-specific manner, which may explain the complex mutant phenotype.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10605 - Developmental biology

Result continuities

  • Project

    <a href="/en/project/EF15_003%2F0000460" target="_blank" >EF15_003/0000460: EXCELLENCE in Molecular Aspects of the early development of vertebrates</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2018

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Journal of Dental Research

  • ISSN

    0022-0345

  • e-ISSN

  • Volume of the periodical

    97

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    10

  • Pages from-to

    108-117

  • UT code for WoS article

    000418548700014

  • EID of the result in the Scopus database

    2-s2.0-85038833183