Literature DB >> 19820410

Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.

Sulaiman M Al-Mayouf1, Nahla Alswaied, Fowzan S Alkuraya, Ali Almehaidib, Mosa Faqih.   

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Year:  2009        PMID： 19820410     DOI： 10.1097/MPG.0b013e3181acaeae

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  15 in total

1.  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

2.  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

3.  Congenital tufting enteropathy and chronic arthritis: a clinical and radiological perspective.

Authors:  Christine Azzopardi; Edgar Pullicino; Bernard Coleiro; Sandro Galea Soler
Journal:  BMJ Case Rep       Date:  2016-08-24

4.  Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Authors:  Julie Salomon; Olivier Goulet; Danielle Canioni; Nicole Brousse; Julie Lemale; Patrick Tounian; Aurore Coulomb; Evelyne Marinier; Jean-Pierre Hugot; Frank Ruemmele; Jean-Louis Dufier; Olivier Roche; Christine Bodemer; Virginie Colomb; Cécile Talbotec; Florence Lacaille; Florence Campeotto; Nadine Cerf-Bensussan; Andreas R Janecke; Thomas Mueller; Sibylle Koletzko; Jean-Paul Bonnefont; Stanislas Lyonnet; Arnold Munnich; Françoise Poirier; Asma Smahi
Journal:  Hum Genet       Date:  2013-10-19       Impact factor: 4.132

5.  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

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.  New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia.

Authors:  Shaden AlMahamed; Abdelhai Hammo
Journal:  Saudi J Gastroenterol       Date:  2017 Mar-Apr       Impact factor: 2.485

8.  Bilateral Total Hip and Unilateral Knee Arthroplasties in a Young Adult with Arthropathy-Associated Intestinal Epithelial Dysplasia (Tufting Enteropathy).

Authors:  Colin Ng; Kurt Magri; Ryan Giordmaina; Duncan Whitwell
Journal:  Case Rep Orthop       Date:  2018-10-30

9.  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

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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