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@article{1596919,
author = {Nováková, Monika and Hampl, Marek and Vrabel, David and Prochazka, Jan and Petrerselyova, Silvia and Prochazkova, Michaela and Sedlacek, Radislav and Kavkova, Michaela and Zikmund, Tomáš and Kaiser, Jozef and Juan, HsienandChia and Fann, MingandJi and Buchtová, marcela and Kohoutek, Jiří},
article_location = {Lausanne},
article_number = {AUG},
doi = {http://dx.doi.org/10.3389/fcell.2019.00155},
keywords = {cyclin-dependent kinase (CDK); cyclin; transcription regulation; development; mouse; cyclin-dependent kinase 13; cyclin K},
language = {eng},
issn = {2296-634X},
journal = {Frontiers in Cell and Developmental Biology},
title = {Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13},
url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694211/},
volume = {7},
year = {2019}
}
TY - JOUR
ID - 1596919
AU - Nováková, Monika - Hampl, Marek - Vrabel, David - Prochazka, Jan - Petrerselyova, Silvia - Prochazkova, Michaela - Sedlacek, Radislav - Kavkova, Michaela - Zikmund, Tomáš - Kaiser, Jozef - Juan, Hsien-Chia - Fann, Ming-Ji - Buchtová, marcela - Kohoutek, Jiří
PY - 2019
TI - Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13
JF - Frontiers in Cell and Developmental Biology
VL - 7
IS - AUG
SP - 1-19
EP - 1-19
PB - Frontiers Media S.A.
SN - 2296634X
KW - cyclin-dependent kinase (CDK)
KW - cyclin
KW - transcription regulation
KW - development
KW - mouse
KW - cyclin-dependent kinase 13
KW - cyclin K
UR - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694211/
L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694211/
N2 - Congenital heart defects, dysmorphic facial features and intellectual developmental disorders (CHDFIDD) syndrome in humans was recently associated with mutation in CDK13 gene. In order to assess the loss of function of Cdk13 during mouse development, we employed gene trap knock-out (KO) allele in Cdk13 gene. Embryonic lethality of Cdk13-deficient animals was observed by the embryonic day (E) 16.5, while live embryos were observed on E15.5. At this stage, improper development of multiple organs has been documented, partly resembling defects observed in patients with mutated CDK13. In particular, overall developmental delay, incomplete secondary palate formation with variability in severity among Cdk13-deficient animals or complete midline deficiency, kidney failure accompanied by congenital heart defects were detected. Based on further analyses, the lethality at this stage is a result of heart failure most likely due to multiple heart defects followed by insufficient blood circulation resulting in multiple organs dysfunctions. Thus, Cdk13 KO mice might be a very useful model for further studies focused on delineating signaling circuits and molecular mechanisms underlying CHDFIDD caused by mutation in CDK13 gene.
ER -
NOVÁKOVÁ, Monika, Marek HAMPL, David VRABEL, Jan PROCHAZKA, Silvia PETRERSELYOVA, Michaela PROCHAZKOVA, Radislav SEDLACEK, Michaela KAVKOVA, Tomáš ZIKMUND, Jozef KAISER, Hsien-Chia JUAN, Ming-Ji FANN, marcela BUCHTOVÁ and Jiří KOHOUTEK. Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13. \textit{Frontiers in Cell and Developmental Biology}. Lausanne: Frontiers Media S.A., 2019, vol.~7, AUG, p.~1-19. ISSN~2296-634X. Available from: https://dx.doi.org/10.3389/fcell.2019.00155.
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