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Kevin Okamoto
University of California, San Diego
6Publications
1H-index
2Citations
Publications 6
Newest
#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
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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...
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#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...
2 CitationsSource
#1Kevin OkamotoH-Index: 1
Last.Mamata SivagnanamH-Index: 9
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#1Kevin OkamotoH-Index: 1
#2Matthew D. McGeoughH-Index: 14
Last.Mamata SivagnanamH-Index: 9
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#1Philip KozanH-Index: 1
#2Kevin OkamotoH-Index: 1
Last.Mamata SivagnanamH-Index: 9
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