Breadcrumb

null Loydie Jerome-Majewska, PhD

Senior Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Centre for Translational Biology

Professor, Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University

 

Keywords

placenta • 22q11.2DS • DiGeorge syndrome • protein trafficking • alternative splicing • TMED2 • ESRP1

Research Focus

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.

Selected Publications

Click on Pubmed to see my current publications list

  • Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis. Alam SS, Kumar S, Beauchamp MC, Bareke E, Boucher A, Nzirorera N, Dong Y, Padilla R, Zhang SJ, Majewski J, Jerome-Majewska LA. Dis Model Mech. 2022 Jun 1;15(6):dmm049544. doi: 10.1242/dmm.049544. Epub 2022 Jun 23.

  • Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion. Beauchamp MC, Boucher A, Dong Y, Aber R, Jerome-Majewska LA. Int J Mol Sci. 2022 Aug 12;23(16):9033. doi: 10.3390/ijms23169033.

  • Sf3b4 regulates chromatin remodeler splicing and Hox expression. Kumar S, Alam SS, Bareke E, Beauchamp MC, Dong Y, Chan W, Majewski J, Jerome-Majewska LA. Differentiation. 2023 May-Jun;131:59-73. doi: 10.1016/j.diff.2023.04.004. Epub 2023 May 4.

  • The unfolded protein response regulates ER exit sites via SNRPB-dependent RNA splicing and contributes to bone development. Zahoor M, Dong Y, Preussner M, Reiterer V, Shameen Alam S, Haun M, Horzum U, Frey Y, Hajdu R, Geley S, Cormier-Daire V, Heyd F, Jerome-Majewska LA, Farhan H.

  • Etiology of craniofacial and cardiac malformations in a mouse model of SF3B4-related syndromes. Kumar S, Bareke E, Lee J, Carlson E, Merkuri F, Schwager EE, Maglio S, Fish JL, Majewski J, Jerome-Majewska LA. Proc Natl Acad Sci U S A. 2024 Sep 24;121(39):e2405523121. doi: 10.1073/pnas.2405523121. Epub 2024 Sep 18.