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placenta • 22q11.2DS • DiGeorge syndrome • protein trafficking • alternative splicing • TMED2 • ESRP1
My research focuses on identifying genes responsible for developmental syndromes that affect the face and in generating animal models that will allow us to investigate the cellular and molecular basis of such developmental syndromes. We are currently using next-generation sequencing to identify genes involved in VDEGS and microdeletion syndromes. To create mouse models, we perform gene targeting in embryonic stem cells to generate conditional mutations in the genes of interest. Another major focus in the laboratory is to understand the mechanisms that results in abnormal morphogenesis of the placenta, since such abnormalities can be catastrophic to the growing embryo and mother.
Christensen KE, Deng L, Leung KY, Arning E, Bottiglieri T, Malysheva OV, Caudil MA, Krupenko NI, Greene ND, Jerome-Majewska LA, Mackenzie RE, Rozen R. A novel mouse model for genetic variation in 10-formlytetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development. Human Molecular Genetics 22(18):3705-19, 2013 Sep.
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Bailey A, Lynch D, Yan A, Bilaniuk L, Sullivan KE, Emanuel B, Vermeesch J, Zackai EH, Jerome-Majewska LA. Hemizygous Mutations in SNAP29 Unmask Autosomal Recessive Conditions and Contribute to Atypical Findings in Patients with 22q11.2DS. Journal of Medical Genetics50(2):80-90, 2013 Feb.
Revil T, Jerome-Majewska LA. The splicing factor ESRP1 is highly expressed during mouse development and regulates splicing of a subset of developmentally important genes. Developmental Dynamics 42(3):281-90, 2013 Mar.
Zakariyah A, Hou W, Slim R, Jerome-Majewska LA. TMED2/p24β1 is expressed in all gestational stages of human placentas and in choriocarcinoma cell lines. Placenta 33(3): 214-9, 2012 Mar.
Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska, LA. Expression of Mmachc and Mmadhc during mouse organogenesis. Molecular Genetics and Metabolism 103(4):401-5, 2011 Aug.