Literature DB >> 20034091

Further evidence for EpCAM as the gene for congenital tufting enteropathy.

Mamata Sivagnanam1, Tiffany Schaible, Reka Szigeti, Robert H Byrd, Milton J Finegold, Sarangarajan Ranganathan, G S Gopalakrishna, Nina Tatevian, Richard Kellermayer.   

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Year:  2010        PMID： 20034091      PMCID： PMC6691968          DOI： 10.1002/ajmg.a.33186

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  14 in total

Review 1.  EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients.

Authors:  Marjolijn J L Ligtenberg; Roland P Kuiper; Ad Geurts van Kessel; Nicoline Hoogerbrugge
Journal:  Fam Cancer       Date:  2013-06       Impact factor: 2.375

2.  Functional consequences of EpCam mutation in mice and men.

Authors:  James L Mueller; Matthew D McGeough; Carla A Peña; Mamata Sivagnanam
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2013-12-12       Impact factor: 4.052

3.  Genetic analysis of Italian patients with congenital tufting enteropathy.

Authors:  Maria d'Apolito; Daniela Pisanelli; Flavio Faletra; Ida Giardino; Maddalena Gigante; Massimo Pettoello-Mantovani; Olivier Goulet; Paolo Gasparini; Angelo Campanozzi
Journal:  World J Pediatr       Date:  2015-12-18       Impact factor: 2.764

4.  Absence of cell-surface EpCAM in congenital tufting enteropathy.

Authors:  Ulrike Schnell; Jeroen Kuipers; James L Mueller; Anneke Veenstra-Algra; Mamata Sivagnanam; Ben N G Giepmans
Journal:  Hum Mol Genet       Date:  2013-03-05       Impact factor: 6.150

5.  Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation.

Authors:  Mamata Sivagnanam; James L Mueller; Reka Szigeti; G S Gopalakrishna; Richard Kellermayer
Journal:  Case Rep Med       Date:  2012-09-09

6.  Identification of EPCAM mutation: clinical use of microarray.

Authors:  Queenie K-G Tan; Diana M Cardona; Catherine W Rehder; Marie T McDonald
Journal:  Clin Case Rep       Date:  2017-05-10

7.  mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/β-catenin.

Authors:  Emanuela Guerra; Rossano Lattanzio; Rossana La Sorda; Francesca Dini; Gian Mario Tiboni; Mauro Piantelli; Saverio Alberti
Journal:  PLoS One       Date:  2012-11-28       Impact factor: 3.240

8.  Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction.

Authors:  Philip A Kozan; Matthew D McGeough; Carla A Peña; James L Mueller; Kim E Barrett; Ronald R Marchelletta; Mamata Sivagnanam
Journal:  J Mol Med (Berl)       Date:  2014-12-09       Impact factor: 4.599

9.  Germline deletions in the EPCAM gene as a cause of Lynch syndrome - literature review.

Authors:  Katarzyna Tutlewska; Jan Lubinski; Grzegorz Kurzawski
Journal:  Hered Cancer Clin Pract       Date:  2013-08-12       Impact factor: 2.857

Review 10.  Current View on EpCAM Structural Biology.

Authors:  Aljaž Gaber; Brigita Lenarčič; Miha Pavšič
Journal:  Cells       Date:  2020-05-31       Impact factor: 6.600
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