Literature DB >> 20009592

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

Mamata Sivagnanam, Andreas R Janecke, Thomas Müller, Peter Heinz-Erian, Sharon Taylor, Lynne M Bird.   

Abstract

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Year:  2010        PMID： 20009592      PMCID： PMC6709868          DOI： 10.1097/MCD.0b013e328331de38

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.  Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Authors:  Andreas R Janecke; Peter Heinz-Erian; Jianyi Yin; Britt-Sabina Petersen; Andre Franke; Silvia Lechner; Irene Fuchs; Serge Melancon; Holm H Uhlig; Simon Travis; Evelyne Marinier; Vojislav Perisic; Nina Ristic; Patrick Gerner; Ian W Booth; Satu Wedenoja; Nadja Baumgartner; Julia Vodopiutz; Marie-Christine Frechette-Duval; Jan De Lafollie; Rabindranath Persad; Neil Warner; C Ming Tse; Karan Sud; Nicholas C Zachos; Rafiquel Sarker; Xinjun Zhu; Aleixo M Muise; Klaus-Peter Zimmer; Heiko Witt; Heinz Zoller; Mark Donowitz; Thomas Müller
Journal:  Hum Mol Genet       Date:  2015-09-10       Impact factor: 6.150

4.  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

5.  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

6.  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

7.  N-Glycan Branching Affects the Subcellular Distribution of and Inhibition of Matriptase by HAI-2/Placental Bikunin.

Authors:  Ying-Jung J Lai; Hsiang-Hua D Chang; Hongyu Lai; Yuan Xu; Frank Shiao; Nanxi Huang; Linpei Li; Ming-Shyue Lee; Michael D Johnson; Jehng-Kang Wang; Chen-Yong Lin
Journal:  PLoS One       Date:  2015-07-14       Impact factor: 3.240

8.  Selective Inhibition of Prostasin in Human Enterocytes by the Integral Membrane Kunitz-Type Serine Protease Inhibitor HAI-2.

Authors:  Frank Shiao; Li-Ching O Liu; Nanxi Huang; Ying-Jung J Lai; Robert J Barndt; Chun-Che Tseng; Jehng-Kang Wang; Bailing Jia; Michael D Johnson; Chen-Yong Lin
Journal:  PLoS One       Date:  2017-01-26       Impact factor: 3.240

Review 9.  Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.

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

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