Research Output 2001 2017

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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
2015
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
2014
12 Citations (Scopus)

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

Relapsing Polychondritis
Chondrodysplasia Punctata
Mutation
Genes
Vitamin K
4 Citations (Scopus)

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

Craniosynostoses
MAP Kinase Signaling System
Osteoblasts
Cell Line
Fibroblast Growth Factor 2
2013
9 Citations (Scopus)

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

Citrobacter rodentium
Enteropathogenic Escherichia coli
Enterohemorrhagic Escherichia coli
Tight Junctions
Infection
2012
63 Citations (Scopus)

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

Craniosynostoses
Genome-Wide Association Study
Odds Ratio
Population
Genes
11 Citations (Scopus)

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

Craniosynostoses
Mutation
Sutures
Live Birth
Luciferases

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

Capsid Proteins
Luciferases
Assays
Endoplasmic Reticulum
Proteins
7 Citations (Scopus)

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

Fibroblast Growth Factor Receptors
Leucine
Modulators
Immunoglobulins
Fibronectins
26 Citations (Scopus)

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

Procollagen
Endoplasmic Reticulum
Membrane Proteins
Molecules
Membranes
12 Citations (Scopus)

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

Enterohemorrhagic Escherichia coli
Enteropathogenic Escherichia coli
Bacterial Proteins
Virulence
Citrobacter rodentium
2011
32 Citations (Scopus)

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

Endoplasmic Reticulum
Collagen
Fibroblasts
Missense Mutation
Hypertelorism
20 Citations (Scopus)

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

Factor V Deficiency
Factor V
Cathepsin Z
Cathepsin C
Endoplasmic Reticulum
2008
11 Citations (Scopus)

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

Presenilins
Sequence Analysis
Alzheimer Disease
Mutation
Amyloid Precursor Protein Secretases
2007
43 Citations (Scopus)

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

Amyloid Precursor Protein Secretases
Secretory Pathway
Endoplasmic Reticulum
Transport Vesicles
Alzheimer Disease
11 Citations (Scopus)

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

Chloroplasts
Protein Sorting Signals
Galactolipids
Chloroplast Proton-Translocating ATPases
Escherichia coli
69 Citations (Scopus)

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

Enteropathogenic Escherichia coli
Virulence Factors
Enterohemorrhagic Escherichia coli
Virulence
Proteins
2005
67 Citations (Scopus)

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

Presenilin-1
Amyloid beta-Protein Precursor
Capsid Proteins
Product Packaging
Endoplasmic Reticulum
2004
22 Citations (Scopus)

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

Presenilin-1
Protein Conformation
Glycosylation
Membrane Proteins
Membranes
2001
13 Citations (Scopus)

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

Protein Sorting Signals
Hydrophobicity
Hydrophobic and Hydrophilic Interactions
Adenosine Triphosphatases
Peptides