Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F24%3A00587905" target="_blank" >RIV/67985904:_____/24:00587905 - isvavai.cz</a>
Alternative codes found
RIV/68378050:_____/24:00587905 RIV/00216224:14310/24:00136267
Result on the web
<a href="https://journals.biologists.com/dmm/article/17/6/dmm050261/358081/Early-embryogenesis-in-CHDFIDD-mouse-model-reveals" target="_blank" >https://journals.biologists.com/dmm/article/17/6/dmm050261/358081/Early-embryogenesis-in-CHDFIDD-mouse-model-reveals</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1242/dmm.050261" target="_blank" >10.1242/dmm.050261</a>
Alternative languages
Result language
angličtina
Original language name
Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis
Original language description
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD) is associated with mutations in the CDK13 gene encoding transcription-regulating cyclin-dependent kinase 13 (CDK13). Here, we focused on the development of craniofacial structures and analyzed early embryonic stages in CHDFIDD mouse models, with one model comprising a hypomorphic mutation in Cdk13 and exhibiting cleft lip/palate, and another model comprising knockout of Cdk13 , featuring a stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically expressed at high levels in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme. We also uncovered that Cdk13 deficiency leads to development of hypoplastic branches of the trigeminal nerve including the maxillary branch. Additionally, we detected significant changes in the expression levels of genes involved in neurogenesis ( Ache , Dcx , Mef2c , Neurog1 , Ntn1, Pou4f1 ) within the developing palatal shelves. These results, together with changes in the expression pattern of other key facespecific genes ( Fgf8, Foxd1 , Msx1 , Meis2 and Shh ) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in the regulation of craniofacial morphogenesis.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10601 - Cell biology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Disease Models & Mechanisms
ISSN
1754-8403
e-ISSN
1754-8411
Volume of the periodical
17
Issue of the periodical within the volume
6
Country of publishing house
GB - UNITED KINGDOM
Number of pages
16
Pages from-to
dmm050261
UT code for WoS article
001267747400003
EID of the result in the Scopus database
2-s2.0-85197352924