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Endoplasmic Reticulum Medicine & Life Sciences
Craniosynostoses Medicine & Life Sciences
Enterohemorrhagic Escherichia coli Medicine & Life Sciences
Enteropathogenic Escherichia coli Medicine & Life Sciences
Mutation Medicine & Life Sciences
Presenilin-1 Medicine & Life Sciences
Proteins Medicine & Life Sciences
Capsid Proteins Medicine & Life Sciences

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Projects 2012 2019

Collagen
Mutation
Procollagen
Endoplasmic Reticulum
Fibroblasts
Mitogen-Activated Protein Kinases
Endoplasmic Reticulum
Receptor Protein-Tyrosine Kinases
Craniosynostoses
Fibroblast Growth Factor Receptors

Research Output 2001 2017

2 Citations (Scopus)

A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element

Justice, C. M., Kim, J., Kim, S. D., Kim, K., Yagnik, G., Cuellar, A., Carrington, B., Lu, C. L., Sood, R., Boyd, S. & Wilson, A. F., Nov 1 2017, In : American Journal of Medical Genetics, Part A. 173, 11, p. 2893-2897 5 p.

Research output: Contribution to journalArticle

Craniosynostoses
Alleles
Renilla Luciferases
Chromosomes, Human, Pair 20
Gene Transfer Techniques
4 Citations (Scopus)

ER egress of invariant chain isoform p35 requires direct binding to MHCII molecules and is inhibited by the NleA virulence factor of enterohaemorrhagic Escherichia coli

Cloutier, M., Gauthier, C., Fortin, J. S., Genève, L., Kim, K., Gruenheid, S., Kim, J. & Thibodeau, J., 2015, In : Human Immunology. 76, 4, p. 292-296 5 p.

Research output: Contribution to journalArticle

Enterohemorrhagic Escherichia coli
Virulence Factors
Protein Isoforms
Human Trafficking
Arginine
59 Citations (Scopus)

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

Garbes, L., Kim, K., Rieß, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M. J., Huh, Y. H., Kweon, H. S., Savarirayan, R., Amor, D., Kakadia, P. M., Lindig, T., Kagan, K. O., Becker, J., Boyd, S., Wollnik, B., Semler, O., Bohlander, S. K., Kim, J. & 1 others, Netzer, C., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 432-439 8 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Phenotype
Mutation
Micrognathism
Alleles