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Pangenome comparison of Bacteroides fragilis genomospecies unveil genetic diversity and ecological insights.
Oles RE, Terrazas MC, Loomis LR, Hsu CY, Tribelhorn C, Ferre PB, Ea A, Bryant M, Young J, Carrow HC, Sandborn WJ, Dulai P, Sivagnanam M, Pride D, Knight R, Chu H. Oles RE, et al. Among authors: sivagnanam m. bioRxiv [Preprint]. 2023 Dec 21:2023.12.20.572674. doi: 10.1101/2023.12.20.572674. bioRxiv. 2023. PMID: 38187556 Free PMC article. Preprint.
Initial description of the human NLRP3 promoter.
Anderson JP, Mueller JL, Misaghi A, Anderson S, Sivagnanam M, Kolodner RD, Hoffman HM. Anderson JP, et al. Among authors: sivagnanam m. Genes Immun. 2008 Dec;9(8):721-6. doi: 10.1038/gene.2008.66. Epub 2008 Aug 21. Genes Immun. 2008. PMID: 18719602 Free PMC article.
Further evidence for EpCAM as the gene for congenital tufting enteropathy.
Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, Gopalakrishna GS, Tatevian N, Kellermayer R. Sivagnanam M, et al. Am J Med Genet A. 2010 Jan;152A(1):222-4. doi: 10.1002/ajmg.a.33186. Am J Med Genet A. 2010. PMID: 20034091 Free PMC article. No abstract available.
Functional consequences of EpCam mutation in mice and men.
Mueller JL, McGeough MD, Peña CA, Sivagnanam M. Mueller JL, et al. Among authors: sivagnanam m. Am J Physiol Gastrointest Liver Physiol. 2014 Feb 15;306(4):G278-88. doi: 10.1152/ajpgi.00286.2013. Epub 2013 Dec 12. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 24337010 Free PMC article.
Biallelic Mismatch Repair Deficiency in an Adolescent Female.
Hildreth A, Valasek MA, Thung I, Savides T, Sivagnanam M, Ramamoorthy S, Huang SC. Hildreth A, et al. Among authors: sivagnanam m. Case Rep Genet. 2018 Jul 25;2018:8657823. doi: 10.1155/2018/8657823. eCollection 2018. Case Rep Genet. 2018. PMID: 30155321 Free PMC article.
Identification of EpCAM as the gene for congenital tufting enteropathy.
Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. Sivagnanam M, et al. Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15. Gastroenterology. 2008. PMID: 18572020 Free PMC article.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. Pathak SJ, et al. Among authors: sivagnanam m. Hum Mutat. 2019 Feb;40(2):142-161. doi: 10.1002/humu.23688. Epub 2018 Nov 29. Hum Mutat. 2019. PMID: 30461124 Free PMC article.
Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction.
Kozan PA, McGeough MD, Peña CA, Mueller JL, Barrett KE, Marchelletta RR, Sivagnanam M. Kozan PA, et al. Among authors: sivagnanam m. J Mol Med (Berl). 2015 May;93(5):535-45. doi: 10.1007/s00109-014-1239-x. Epub 2014 Dec 9. J Mol Med (Berl). 2015. PMID: 25482158 Free PMC article.
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN. Schnell U, et al. Among authors: sivagnanam m. Hum Mol Genet. 2013 Jul 1;22(13):2566-71. doi: 10.1093/hmg/ddt105. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462293 Free PMC article.
26 results