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Mamata Sivagnanam

Title(s)Associate Clinical Professor, Pediatrics
SchoolHealth Sciences
Address9500 Gilman Drive #0984
La Jolla CA 92093
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 
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    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Pediatric Gastroenterology, Hepatology, and Nutrition Entrustable Professional Activities: Development of an Assessment Tool and Curricular Resources. J Pediatr Gastroenterol Nutr. 2020 Jul; 71(1):e40-e45. Robson J, Lusman SS, Lee CK, Merves J, Middleton J, Perez ME, Desai NK, Sayej W, Sivagnanam M, Solomon AB, Colombo JM, Rosen JM, Van Buren KW, Brown JB, Turmelle YP, Cerezo CS, Loomes KM, Huang JS, Quiros-Tejeira RE, Benkov K, Leichtner A, Narkewicz MR, Weinstein T, Sauer CG. PMID: 32265411.
      View in: PubMed   Mentions:    Fields:    
    2. Impact of COVID-19 on Pediatric Gastroenterology Fellow Training in North America. J Pediatr Gastroenterol Nutr. 2020 Apr 30. Mallon D, Pohl JF, Phatak UP, Fernandes M, Rosen JM, Lusman SS, Nylund CM, Jump CS, Solomon AB, Srinath A, Singer A, Harb R, Rodriguez-Baez N, Buren KLWV, Koyfman S, Bhatt R, Rodriguez DMS, Sivagnanam M, Lee CK. PMID: 32369320.
      View in: PubMed   Mentions:    Fields:    
    3. Congenital Tufting Enteropathy-Associated Mutant of Epithelial Cell Adhesion Molecule Activates the Unfolded Protein Response in a Murine Model of the Disease. Cells. 2020 Apr 11; 9(4). Das B, Okamoto K, Rabalais J, Marchelletta RR, Barrett KE, Das S, Niwa M, Sivagnanam M. PMID: 32290509.
      View in: PubMed   Mentions:    Fields:    
    4. Enteroids expressing a disease-associated mutant of EpCAM are a model for congenital tufting enteropathy. Am J Physiol Gastrointest Liver Physiol. 2019 11 01; 317(5):G580-G591. Das B, Okamoto K, Rabalais J, Kozan PA, Marchelletta RR, McGeough MD, Durali N, Go M, Barrett KE, Das S, Sivagnanam M. PMID: 31433211.
      View in: PubMed   Mentions: 1     Fields:    Translation:AnimalsCells
    5. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Hum Mutat. 2019 02; 40(2):142-161. 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. PMID: 30461124.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. Biallelic Mismatch Repair Deficiency in an Adolescent Female. Case Rep Genet. 2018; 2018:8657823. Hildreth A, Valasek MA, Thung I, Savides T, Sivagnanam M, Ramamoorthy S, Huang SC. PMID: 30155321.
      View in: PubMed   Mentions:
    7. Fever and Jaundice in a Previously Healthy Teenager. Clin Pediatr (Phila). 2016 10; 55(11):1081-4. Say DS, Chaparro J, Koning JL, Sivagnanam M. PMID: 27630008.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    8. Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction. J Mol Med (Berl). 2015 May; 93(5):535-45. Kozan PA, McGeough MD, Peña CA, Mueller JL, Barrett KE, Marchelletta RR, Sivagnanam M. PMID: 25482158.
      View in: PubMed   Mentions: 9     Fields:    Translation:AnimalsCells
    9. Functional consequences of EpCam mutation in mice and men. Am J Physiol Gastrointest Liver Physiol. 2014 Feb 15; 306(4):G278-88. Mueller JL, McGeough MD, Peña CA, Sivagnanam M. PMID: 24337010.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    10. Absence of cell-surface EpCAM in congenital tufting enteropathy. Hum Mol Genet. 2013 Jul 01; 22(13):2566-71. Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN. PMID: 23462293.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    11. Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation. Case Rep Med. 2012; 2012:173195. Sivagnanam M, Mueller JL, Szigeti R, Gopalakrishna GS, Kellermayer R. PMID: 22991516.
      View in: PubMed   Mentions:
    12. 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. Yu EL, Sivagnanam M, Ellis L, Huang JS. PMID: 21119544.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    13. Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. Clin Dysmorphol. 2010 Jan; 19(1):48. Sivagnanam M, Janecke AR, Müller T, Heinz-Erian P, Taylor S, Bird LM. PMID: 20009592.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    14. Further evidence for EpCAM as the gene for congenital tufting enteropathy. Am J Med Genet A. 2010 Jan; 152A(1):222-4. Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, Gopalakrishna GS, Tatevian N, Kellermayer R. PMID: 20034091.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    15. Initial description of the human NLRP3 promoter. Genes Immun. 2008 Dec; 9(8):721-6. Anderson JP, Mueller JL, Misaghi A, Anderson S, Sivagnanam M, Kolodner RD, Hoffman HM. PMID: 18719602.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    16. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008 Aug; 135(2):429-37. 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. PMID: 18572020.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansCells
    17. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol. 2007 Oct; 16(4):211-21. Bird LM, Sivagnanam M, Taylor S, Newbury RO. PMID: 17786112.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
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