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    Mamata Sivagnanam

    TitleAssociate Clinical Professor
    SchoolUniversity of California, San Diego
    Address9500 Gilman Drive #0984
    CA La Jolla 92093
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      Collapse Research 
      Collapse Research Activities and Funding
      Mutant EpCAMs role in Congenital Tufting Enteropathy
      NIH/NIDDK R01DK107764Mar 1, 2016 - Feb 28, 2021
      Role: Principal Investigator
      Intestinal Epithelial Function in Congenital Tufting Enteropathy
      NIH/NIDDK K08DK078672Aug 1, 2009 - Jul 31, 2014
      Role: Principal Investigator

      Collapse Bibliographic 
      Collapse Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Say DS, Chaparro J, Koning JL, Sivagnanam M. Fever and Jaundice in a Previously Healthy Teenager. Clin Pediatr (Phila). 2016 Oct; 55(11):1081-4. PMID: 27630008.
        View in: PubMed
      2. Kozan PA, McGeough MD, Peña CA, Mueller JL, Barrett KE, Marchelletta RR, Sivagnanam M. Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction. J Mol Med (Berl). 2015 May; 93(5):535-45. PMID: 25482158; PMCID: PMC4408367.
      3. Mueller JL, McGeough MD, Peña CA, Sivagnanam M. Functional consequences of EpCam mutation in mice and men. Am J Physiol Gastrointest Liver Physiol. 2014 Feb 15; 306(4):G278-88. PMID: 24337010; PMCID: PMC3920125.
      4. Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN. Absence of cell-surface EpCAM in congenital tufting enteropathy. Hum Mol Genet. 2013 Jul 01; 22(13):2566-71. PMID: 23462293; PMCID: PMC3674798.
      5. Sivagnanam M, Mueller JL, Szigeti R, Gopalakrishna GS, Kellermayer R. Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation. Case Rep Med. 2012; 2012:173195. PMID: 22991516; PMCID: PMC3444051.
      6. Yu EL, Sivagnanam M, Ellis L, Huang JS. Acute hepatotoxicity after ingestion of Morinda citrifolia (Noni Berry) juice in a 14-year-old boy. J Pediatr Gastroenterol Nutr. 2011 Feb; 52(2):222-4. PMID: 21119544.
        View in: PubMed
      7. Sivagnanam M, Janecke AR, Müller T, Heinz-Erian P, Taylor S, Bird LM. Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. Clin Dysmorphol. 2010 Jan; 19(1):48. PMID: 20009592.
        View in: PubMed
      8. Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, Gopalakrishna GS, Tatevian N, Kellermayer R. Further evidence for EpCAM as the gene for congenital tufting enteropathy. Am J Med Genet A. 2010 Jan; 152A(1):222-4. PMID: 20034091.
        View in: PubMed
      9. Anderson JP, Mueller JL, Misaghi A, Anderson S, Sivagnanam M, Kolodner RD, Hoffman HM. Initial description of the human NLRP3 promoter. Genes Immun. 2008 Dec; 9(8):721-6. PMID: 18719602; PMCID: PMC4477692.
      10. 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. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008 Aug; 135(2):429-37. PMID: 18572020; PMCID: PMC2574708.
      11. Bird LM, Sivagnanam M, Taylor S, Newbury RO. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol. 2007 Oct; 16(4):211-21. PMID: 17786112.
        View in: PubMed
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