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Mamata Sivagnanam

Title(s)Associate Clinical Professor, Pediatrics
SchoolHealth Sciences
Phone858-966-4003
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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. Das B, Okamoto K, Rabalais J, Kozan PA, Marchelletta RR, McGeough MD, Durali N, Go M, Barrett KE, Das S, Sivagnanam M. Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy. Am J Physiol Gastrointest Liver Physiol. 2019 Aug 21. PMID: 31433211.
      View in: PubMed
    2. 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. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Hum Mutat. 2019 Feb; 40(2):142-161. PMID: 30461124.
      View in: PubMed
    3. Hildreth A, Valasek MA, Thung I, Savides T, Sivagnanam M, Ramamoorthy S, Huang SC. Biallelic Mismatch Repair Deficiency in an Adolescent Female. Case Rep Genet. 2018; 2018:8657823. PMID: 30155321.
      View in: PubMed
    4. Say DS, Chaparro J, Koning JL, Sivagnanam M. Fever and Jaundice in a Previously Healthy Teenager. Clin Pediatr (Phila). 2016 10; 55(11):1081-4. PMID: 27630008.
      View in: PubMed
    5. 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.
      View in: PubMed
    6. 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.
      View in: PubMed
    7. 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.
      View in: PubMed
    8. 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.
      View in: PubMed
    9. 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
    10. 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
    11. 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
    12. 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.
      View in: PubMed
    13. 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.
      View in: PubMed
    14. 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