Literature DB >> 23689399

Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings.

Mordechai A Slae1, Michael Saginur, Rabin Persad, Jason Yap, Atilano Lacson, Julie Salomon, Danielle Canioni, Hien Q Huynh.   

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Year:  2013        PMID： 23689399     DOI： 10.1097/MCD.0b013e328361d42f

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  9 in total

Review 1.  Plasticity of the brush border - the yin and yang of intestinal homeostasis.

Authors:  Delphine Delacour; Julie Salomon; Sylvie Robine; Daniel Louvard
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2016-02-03       Impact factor: 46.802

2.  Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Authors:  Kristin E Hirabayashi; Anthony T Moore; Bryce A Mendelsohn; Ryan J Taft; Aditi Chawla; Denise Perry; Duncan Henry; Anne Slavotinek
Journal:  Am J Med Genet A       Date:  2018-04       Impact factor: 2.802

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.  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.  Targeted HAI-2 deletion causes excessive proteolysis with prolonged active prostasin and depletion of HAI-1 monomer in intestinal but not epidermal epithelial cells.

Authors:  Robert B Barndt; Mon-Juan Lee; Nanxi Huang; Dajun D Lu; See-Chi Lee; Po-Wen Du; Chun-Chia Chang; Ping-Feng B Tsai; Yu-Siou K Huang; Hao-Ming Chang; Jehng-Kang Wang; Chih-Hsin Lai; Michael D Johnson; Chen-Yong Lin
Journal:  Hum Mol Genet       Date:  2021-09-15       Impact factor: 5.121

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

Review 7.  Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.

Authors:  Barun Das; Mamata Sivagnanam
Journal:  J Clin Med       Date:  2020-12-23       Impact factor: 4.964

Review 8.  Functions of EpCAM in physiological processes and diseases (Review).

Authors:  Li Huang; Yanhong Yang; Fei Yang; Shaomin Liu; Ziqin Zhu; Zili Lei; Jiao Guo
Journal:  Int J Mol Med       Date:  2018-07-11       Impact factor: 4.101

Review 9.  Intestinal Morphogenesis in Development, Regeneration, and Disease: The Potential Utility of Intestinal Organoids for Studying Compartmentalization of the Crypt-Villus Structure.

Authors:  Ohman Kwon; Tae-Su Han; Mi-Young Son
Journal:  Front Cell Dev Biol       Date:  2020-10-23
  9 in total

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