Research Output

2017

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

5 Scopus citations
2015

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

4 Scopus citations

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

72 Scopus citations
2014

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Weaver, K. N., El Hallek, M., Hopkin, R. J., Sund, K. L., Henrickson, M., del Gaudio, D., Yuksel, A., Acar, G. O., Bober, M. B., Kim, J. & Boyd, S., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 1062-1068 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

MAPK/ERK signaling pathway analysis in primary osteoblasts from patients with nonsyndromic sagittal craniosynostosis

Kim, S. D., Yagnik, G., Cunningham, M. L., Kim, J. & Boyd, S., Jan 2014, In : Cleft Palate-Craniofacial Journal. 51, 1, p. 115-119 5 p.

Research output: Contribution to journalArticle

4 Scopus citations
2013

The inhibition of COPII trafficking is important for intestinal epithelial tight junction disruption during enteropathogenic Escherichia coli and Citrobacter rodentium infection

Thanabalasuriar, A., Kim, J. & Gruenheid, S., Sep 2013, In : Microbes and Infection. 15, 10-11, p. 738-744 7 p.

Research output: Contribution to journalArticle

11 Scopus citations
2012

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., Kimonis, V., Roscioli, T., Wall, S. A., Wilkie, A. O. M., Stoler, J., Richtsmeier, J. T., Heuzé, Y., Sanchez-Lara, P. A., Buckley, M. F., Druschel, C. M. & 13 others, Mills, J. L., Caggana, M., Romitti, P. A., Kay, D. M., Senders, C. W., Taub, P. J., Klein, O. D., Boggan, J. E., Zwienenberg-Lee, M., Naydenov, C., Kim, J., Wilson, A. F. & Boyd, S., Dec 2012, In : Nature Genetics. 44, 12, p. 1360-1364 5 p.

Research output: Contribution to journalArticle

70 Scopus citations

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

Yagnik, G., Ghuman, A., Kim, S., Stevens, C. G., Kimonis, V., Stoler, J., Sanchez-Lara, P. A., Bernstein, J. A., Naydenov, C., Drissi, H., Cunningham, M. L., Kim, J. & Boyd, S., Dec 2012, In : Human Mutation. 33, 12, p. 1626-1629 4 p.

Research output: Contribution to journalArticle

13 Scopus citations

A rapid and quantitative coat protein complex II vesicle formation assay using luciferase reporters

Fromme, J. C. & Kim, J., Feb 15 2012, In : Analytical Biochemistry. 421, 2, p. 482-488 7 p.

Research output: Contribution to journalArticle

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

Kim, S. D., Liu, J. L., Roscioli, T., Buckley, M. F., Yagnik, G., Boyd, S. & Kim, J., May 21 2012, In : FEBS Letters. 586, 10, p. 1516-1521 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

SEC23-SEC31 the interface plays critical role for export of procollagen from the endoplasmic reticulum

Kim, S. D., Pahuja, K. B., Ravazzola, M., Yoon, J., Boyd, S., Hammamoto, S., Schekman, R., Orci, L. & Kim, J., Mar 23 2012, In : Journal of Biological Chemistry. 287, 13, p. 10134-10144 11 p.

Research output: Contribution to journalArticle

29 Scopus citations

Sec24 interaction is essential for localization and virulence-associated function of the bacterial effector protein NleA

Thanabalasuriar, A., Bergeron, J., Gillingham, A., Mimee, M., Thomassin, J. L., Strynadka, N., Kim, J. & Gruenheid, S., Aug 2012, In : Cellular Microbiology. 14, 8, p. 1206-1218 13 p.

Research output: Contribution to journalArticle

15 Scopus citations
2011

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion

Boyd, S., Kim, S. D., Hata, A., Haldeman-Englert, C., Zackai, E., Naydenov, C., Hamamoto, S., Schekman, R. & Kim, J., Aug 2011, In : Clinical Genetics. 80, 2, p. 169-176 8 p.

Research output: Contribution to journalArticle

37 Scopus citations

Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin

Zhang, B., Zheng, C., Zhu, M., Tao, J., Vasievich, M. P., Baines, A., Kim, J., Schekman, R., Kaufman, R. J. & Ginsburg, D., Sep 22 2011, In : Blood. 118, 12, p. 3384-3391 8 p.

Research output: Contribution to journalArticle

23 Scopus citations
2008

Sequence analyses of presenilin mutations linked to familial Alzheimer's disease

Sun, D. K. & Kim, J., Dec 2008, In : Cell Stress and Chaperones. 13, 4, p. 401-412 12 p.

Research output: Contribution to journalArticle

13 Scopus citations
2007

Biogenesis of γ-secretase early in the secretory pathway

Kim, J., Kleizen, B., Choy, R., Thinakaran, G., Sisodia, S. S. & Schekman, R. W., Dec 3 2007, In : Journal of Cell Biology. 179, 5, p. 951-963 13 p.

Research output: Contribution to journalArticle

45 Scopus citations

Chloroplast SecA and Escherichia coli SecA have distinct lipid and signal peptide preferences

Sun, C., Rusch, S. L., Kim, J. & Kendall, D. A., Feb 2007, In : Journal of Bacteriology. 189, 3, p. 1171-1175 5 p.

Research output: Contribution to journalArticle

11 Scopus citations

The Bacterial Virulence Factor NleA Inhibits Cellular Protein Secretion by Disrupting Mammalian COPII Function

Kim, J., Thanabalasuriar, A., Chaworth-Musters, T., Fromme, J. C., Frey, E. A., Lario, PI., Metalnikov, P., Rizg, K., Thomas, N. A., Lee, S. F., Hartland, E. L., Hardwidge, PR., Pawson, T., Strynadka, N. C., Finlay, B. B., Schekman, R. & Gruenheid, S., Sep 13 2007, In : Cell Host and Microbe. 2, 3, p. 160-171 12 p.

Research output: Contribution to journalArticle

72 Scopus citations
2005

Uncoupled packaging of amyloid precursor protein and presenilin 1 into coat protein complex II vesicles

Kim, J., Hamamoto, S., Ravazzola, M., Orci, L. & Schekman, R., Mar 4 2005, In : Journal of Biological Chemistry. 280, 9, p. 7758-7768 11 p.

Research output: Contribution to journalArticle

68 Scopus citations
2004

The ins and outs of presenilin 1 membrane topology

Kim, J. & Schekman, R., Jan 27 2004, In : Proceedings of the National Academy of Sciences of the United States of America. 101, 4, p. 905-906 2 p.

Research output: Contribution to journalArticle

22 Scopus citations
2001

Evidence that SecB enhances the activity of SecA

Kim, J., Miller, A., Wang, L., Müller, J. P. & Kendall, D. A., Mar 27 2001, In : Biochemistry. 40, 12, p. 3674-3680 7 p.

Research output: Contribution to journalArticle

13 Scopus citations