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Kevin Okamoto
University of California, San Diego
Unfolded protein responseMutantCongenital tufting enteropathyDiabetes mellitusMedicine
8Publications
1H-index
7Citations
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Publications 8
Newest
#1J. RabalaisH-Index: 1
#2Barun DasH-Index: 1
Last. Mamata SivagnanamH-Index: 9
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#1Barun Das (UCSD: University of California, San Diego)H-Index: 1
#2Kevin Okamoto (UCSD: University of California, San Diego)H-Index: 1
Last. Mamata Sivagnanam (UCSD: University of California, San Diego)H-Index: 9
view all 8 authors...
Congenital tufting enteropathy (CTE) is a rare chronic diarrheal disease of infancy caused by mutations in epithelial cell adhesion molecule (EpCAM). Previously, a murine CTE model showed mis-localization of EpCAM away from the basolateral cell surface in the intestine. Here we demonstrate that mutant EpCAM accumulated in the endoplasmic reticulum (ER) where it co-localized with ER chaperone, GRP78/BiP, revealing potential involvement of ER stress-induced unfolded protein response (UPR) pathway ...
1 CitationsSource
#1Barun Das (UCSD: University of California, San Diego)H-Index: 1
#2Kevin Okamoto (UCSD: University of California, San Diego)H-Index: 1
Last. Mamata Sivagnanam (UCSD: University of California, San Diego)H-Index: 9
view all 11 authors...
Congenital Tufting Enteropathy (CTE) is an autosomal recessive disease characterized by severe intestinal failure in infancy and mutations in the epithelial cell adhesion molecule (EPCAM) gene. Pre...
1 CitationsSource
#1Barun DasH-Index: 1
#2Kevin OkamotoH-Index: 1
Last. Mamata SivagnanamH-Index: 9
view all 6 authors...
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#1Sagar J. Pathak (UCSD: University of California, San Diego)H-Index: 2
#2James L. Mueller (UCSD: University of California, San Diego)H-Index: 26
Last. Mamata Sivagnanam (UCSD: University of California, San Diego)H-Index: 9
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The epithelial cell adhesion molecule gene (EPCAM, previously known as TACSTD1 or TROP1) encodes a membrane-bound protein that is localized to the basolateral membrane of epithelial cells and is overexpressed in some tumors. Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), which is a rare chronic diarrheal disorder presenting in infancy. Monoallelic deletions of the 3′ end of EPCAM that silence the downstream gene, MSH2, cause a form of Lynch syndrome, which is a cancer p...
5 CitationsSource
#1Kevin OkamotoH-Index: 1
#2J. RabalaisH-Index: 1
Last. Mamata SivagnanamH-Index: 9
view all 6 authors...
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#1Kevin OkamotoH-Index: 1
#2Matthew D. McGeoughH-Index: 16
Last. Mamata SivagnanamH-Index: 9
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#1Philip KozanH-Index: 1
#2Kevin OkamotoH-Index: 1
Last. Mamata SivagnanamH-Index: 9
view all 6 authors...
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