Literature DB >> 30633106

Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.

Ashish Gupta1, Julie Sanville1, Timothy Menz1, Neil Warner2, Aleixo M Muise2,3,4, Karoline Fiedler2, Martín G Martín5, James Padbury1, Chanika Phornphutkul1, Juan Sanchez-Esteban1, Carolina S Cerezo1.   

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Year:  2019        PMID： 30633106      PMCID： PMC8260027          DOI： 10.1097/MPG.0000000000002258

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


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  8 in total

1.  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

2.  Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea.

Authors:  I W Booth; G Stange; H Murer; T R Fenton; P J Milla
Journal:  Lancet       Date:  1985-05-11       Impact factor: 79.321

3.  Receptor guanylyl cyclase C (GC-C): regulation and signal transduction.

Authors:  Nirmalya Basu; Najla Arshad; Sandhya S Visweswariah
Journal:  Mol Cell Biochem       Date:  2009-12-04       Impact factor: 3.396

Review 4.  Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

Authors:  Andreas R Janecke; Peter Heinz-Erian; Thomas Müller
Journal:  J Pediatr Gastroenterol Nutr       Date:  2016-08       Impact factor: 2.839

5.  dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.

Authors:  Xiaoming Liu; Chunlei Wu; Chang Li; Eric Boerwinkle
Journal:  Hum Mutat       Date:  2016-01-05       Impact factor: 4.878

Review 6.  Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.

Authors:  Roberto Berni Canani; Giuseppe Castaldo; Rosa Bacchetta; Martín G Martín; Olivier Goulet
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2015-03-17       Impact factor: 73.082

Review 7.  Congenital diarrheal disorders: an updated diagnostic approach.

Authors:  Gianluca Terrin; Rossella Tomaiuolo; Annalisa Passariello; Ausilia Elce; Felice Amato; Margherita Di Costanzo; Giuseppe Castaldo; Roberto Berni Canani
Journal:  Int J Mol Sci       Date:  2012-03-29       Impact factor: 6.208

Review 8.  Advances in Evaluation of Chronic Diarrhea in Infants.

Authors:  Jay R Thiagarajah; Daniel S Kamin; Sari Acra; Jeffrey D Goldsmith; Joseph T Roland; Wayne I Lencer; Aleixo M Muise; James R Goldenring; Yaron Avitzur; Martín G Martín
Journal:  Gastroenterology       Date:  2018-04-12       Impact factor: 33.883
  8 in total
  1 in total

1.  Further delineation of SLC9A3-related congenital sodium diarrhea.

Authors:  Ema Bogdanic; Thomas Müller; Peter Heinz-Erian; Dorota Garczarczyk-Asim; Andreas R Janecke; Aline Rückel
Journal:  Mol Genet Genomic Med       Date:  2022-06-30       Impact factor: 2.473
  1 in total

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