Update on SLC26A3 mutations in congenital chloride diarrhea.
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SLC transporters as a novel class of tumour suppressors: identity, function and molecular mechanismsThe role of enterocyte defects in the pathogenesis of congenital diarrheal disordersMechanisms Underlying Dysregulation of Electrolyte Absorption in Inflammatory Bowel Disease-Associated DiarrheaIBDsite: a Galaxy-interacting, integrative database for supporting inflammatory bowel disease high throughput data analysisRare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosisNonsynonymous single nucleotide polymorphisms of NHE3 differentially decrease NHE3 transporter activitySmall intestinal ion transport.Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W.Congenital diarrheal disorders: an updated diagnostic approach.Mechanisms of DRA recycling in intestinal epithelial cells: effect of enteropathogenic E. coliThe SLC26 gene family of anion transporters and channels.Involvement of Cl(-)/HCO3(-) exchanger SLC26A3 and SLC26A6 in preimplantation embryo cleavage.Bicarbonate transport in health and disease.Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI).The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-in-adenoma) and reduces its expression, leading to intestinal inflammation.A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.
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P2860
Update on SLC26A3 mutations in congenital chloride diarrhea.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 07 June 2011
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Update on SLC26A3 mutations in congenital chloride diarrhea.
@en
Update on SLC26A3 mutations in congenital chloride diarrhea.
@nl
type
label
Update on SLC26A3 mutations in congenital chloride diarrhea.
@en
Update on SLC26A3 mutations in congenital chloride diarrhea.
@nl
prefLabel
Update on SLC26A3 mutations in congenital chloride diarrhea.
@en
Update on SLC26A3 mutations in congenital chloride diarrhea.
@nl
P2093
P2860
P50
P356
P1433
P1476
Update on SLC26A3 mutations in congenital chloride diarrhea.
@en
P2093
Elina Pekansaari
Pia Höglund
Siru Mäkelä
P2860
P304
P356
10.1002/HUMU.21498
P577
2011-06-07T00:00:00Z