Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea (Q28119064)

4 January 2017

title

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea (English)

1 reference

solute carrier family 9 member A3

4 January 2017

0 references

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sodium ion import across plasma membrane

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Britt-Sabina Petersen

4

Britt-Sabina Petersen

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Satu Wedenoja

Satu Wedenoja

16

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Karan Sud

Karan Sud

24

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Julia Vodopiutz

Julia Vodopiutz

18

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Jianyi Yin

Jianyi Yin

3

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Serge B. Melançon

8

Serge Melancon

1 reference

4 January 2017

5

Andre Franke

1 reference

4 January 2017

Andreas R. Janecke

1

1 reference

4 January 2017

Peter Heinz-Erian

2

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4 January 2017

Silvia Lechner

6

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4 January 2017

Irene Fuchs

7

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4 January 2017

Holm H. Uhlig

9

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4 January 2017

Simon Travis

10

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4 January 2017

Evelyne Marinier

11

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4 January 2017

Vojislav Perisic

12

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4 January 2017

Nina Ristic

13

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4 January 2017

Patrick Gerner

14

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4 January 2017

Ian W. Booth

15

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4 January 2017

Nadja Baumgartner

17

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4 January 2017

Marie-Christine Frechette-Duval

19

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4 January 2017

Jan De Lafollie

20

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4 January 2017

Rabindranath Persad

21

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4 January 2017

Neil Warner

22

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4 January 2017

C. Ming Tse

23

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4 January 2017

Nicholas C. Zachos

25

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4 January 2017

Rafiquel Sarker

26

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4 January 2017

Xinjun Zhu

27

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4 January 2017

Aleixo M. Muise

28

1 reference

4 January 2017

Klaus-Peter Zimmer

29

1 reference

4 January 2017

Heiko Witt

30

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4 January 2017

Heinz Zoller

31

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4 January 2017

Mark Donowitz

32

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4 January 2017

Thomas Müller

33

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4 January 2017

publication date

1 December 2015

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4 January 2017

published in

Human Molecular Genetics

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4 January 2017

volume

24

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4 January 2017

issue

23

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4 January 2017

page(s)

6614–6623

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Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

4 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Identification of EpCAM as the gene for congenital tufting enteropathy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Nonsynonymous single nucleotide polymorphisms of NHE3 differentially decrease NHE3 transporter activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Cyclic GMP kinase II (cGKII) inhibits NHE3 by altering its trafficking and phosphorylating NHE3 at three required sites: identification of a multifunctional phosphorylation site

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Crystal structure of the sodium-proton antiporter NhaA dimer and new mechanistic insights

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Loss of syntaxin 3 causes variant microvillus inclusion disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Functional and structural dynamics of NhaA, a prototype for Na(+) and H(+) antiporters, which are responsible for Na(+) and H(+) homeostasis in cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Reduced colonic microbial diversity is associated with colitis in NHE3-deficient mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

The multiple and enigmatic roles of guanylyl cyclase C in intestinal homeostasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Elevated calcium acutely regulates dynamic interactions of NHERF2 and NHE3 proteins in opossum kidney (OK) cell microvilli

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

NHERF1 and NHERF2 are necessary for multiple but usually separate aspects of basal and acute regulation of NHE3 activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Phospholipase C-gamma binds directly to the Na+/H+ exchanger 3 and is required for calcium regulation of exchange activity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

NHE3 regulatory complexes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Downregulation of sodium transporters and NHERF proteins in IBD patients and mouse colitis models: potential contributors to IBD-associated diarrhea

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Colonic gene expression profile in NHE3-deficient mice: evidence for spontaneous distal colitis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Na+/H+ exchanger NHE3 activity and trafficking are lipid Raft-dependent

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

cGMP inhibition of Na+/H+ antiporter 3 (NHE3) requires PDZ domain adapter NHERF2, a broad specificity protein kinase G-anchoring protein.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Preserved Na(+)/H(+) exchanger isoform 3 expression and localization, but decreased NHE3 function indicate regulatory sodium transport defect in ulcerative colitis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Changes in mucosal homeostasis predispose NHE3 knockout mice to increased susceptibility to DSS-induced epithelial injury

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Kinetics and regulation of three cloned mammalian Na+/H+ exchangers stably expressed in a fibroblast cell line.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Congenital Na+ diarrhea: a new type of secretory diarrhea

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Model structure of the Na+/H+ exchanger 1 (NHE1): functional and clinical implications

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Blood pressure maintenance in NHE3-deficient mice with transgenic expression of NHE3 in small intestine

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4634371

Distinct structural domains confer cAMP sensitivity and ATP dependence to the Na+/H+ exchanger NHE3 isoform

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/26358773

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/26358773

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea

1 reference

https://pubmed.ncbi.nlm.nih.gov/26358773

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

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