142452/CIHR/Canada[Grants and Funding] - Search Results

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Subject: 142452/CIHR/Canada[Grants and Funding] - PubMed

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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.

Beauchamp MC, Djedid A, Bareke E, Merkuri F, Aber R, Tam AS, Lines MA, Boycott KM, Stirling PC, Fish JL, Majewski J, Jerome-Majewska LA. Beauchamp MC, et al. Hum Mol Genet. 2021 May 28;30(9):739-757. doi: 10.1093/hmg/ddab051. Hum Mol Genet. 2021. PMID: 33601405 Free PMC article.

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.

Beauchamp MC, Djedid A, Daupin K, Clokie K, Kumar S, Majewski J, Jerome-Majewska LA. Beauchamp MC, et al. PLoS One. 2019 Jul 5;14(7):e0219280. doi: 10.1371/journal.pone.0219280. eCollection 2019. PLoS One. 2019. PMID: 31276534 Free PMC article.

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