Jerome-Majewska Lab
Our Research
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Our group is interested in uncovering the molecular and genetic basis of morphogenesis. Morphogenesis, the process by which tissues and organs achieve their final shape is essential for normal development and disruption in morphogenesis results in congenital malformations in human. Congenital malformations are single or multiple defects of morphogenesis identified at birth or during development, with an incidence of 2-3% world-wide. Congenital malformations can result in death early in the neonatal period or result in long-term disabilities with significant impacts on individuals, families and health-care systems.
We study morphogenesis of the placenta, craniofacial region and the liver. Malformations in placenta can result in the most severe cases in death before birth or in more severe cases, pre-term birth – the most common cause of death within the first 4 weeks of life. We have identified genes essential for normal morphogenesis of these organs and used CRISPR/Cas9 to generate mouse models for our studies.
Publications
Beauchamp MC, Djedid A, Bareke E, Merkuri F, Aber R, Tam AS, Lines MS, Boycott KM, Stirling PC, Fish J, Majewski J, Jerome-Majewska LA. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Human Molecular Genetics, 2021. In press
Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA. Spliceosomopathies and neurocristopathies: two sides of the same coin? Dev Dyn. 2020. Epub 2020/04/22. doi: 10.1002/dvdy.183. PubMed PMID: 32315467.
Aber R, Chan W, Mugisha S, Jerome-Majewska LA. Transmembrane emp24 domain proteins in development and disease. Genet Res (Camb). 2019;101:e14. Epub 2019/12/28. doi: 10.1017/S0016672319000090. PubMed PMID: 31878985; PMCID: PMC7045115.
Keser V, Lachance JB, Alam SS, Lim Y, Scarlata E, Kaur A, Zhang TF, Lv S, Lachapelle P, O'Flaherty C, Golden JA, Jerome-Majewska LA. Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome. Commun Biol. 2019;2:375. Epub 2019/10/22. doi: 10.1038/s42003-019-0601-5. PubMed PMID: 31633066; PMCID: PMC6789041.
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You may find all of the Jerome-Majewska lab publications here:
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https://scholar.google.ca/citations?hl=en&user=-MJR3fkAAAAJ&view_op=list_works&sortby=pubdate
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