Update on SLC26A3 mutations in congenital chloride diarrhea (Q37851912)

24 August 2017

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title

Update on SLC26A3 mutations in congenital chloride diarrhea (English)

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24 August 2017

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6

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24 August 2017

Satu Wedenoja

1

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Christer Holmberg

series ordinal

5

object named as

Christer Holmberg

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24 August 2017

Elina Pekansaari

2

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24 August 2017

Pia Höglund

series ordinal

3

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24 August 2017

Siru Mäkelä

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4

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24 August 2017

publication date

7 June 2011

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24 August 2017

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24 August 2017

volume

32

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24 August 2017

issue

7

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24 August 2017

page(s)

715-722

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Molecular cloning and promoter analysis of downregulated in adenoma (DRA)

24 August 2017

cites work

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Understanding what determines the frequency and pattern of human germline mutations

21 January 2018

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A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population

21 January 2018

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The Universal Protein Resource (UniProt)

21 January 2018

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Butyrate as an effective treatment of congenital chloride diarrhea

21 January 2018

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Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

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Standardizing mutation nomenclature: why bother?

21 January 2018

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Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3.

21 January 2018

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

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Intestinal ion transport and the pathophysiology of diarrhea

21 January 2018

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Role of CFTR in the colon

21 January 2018

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Genomic structure of the human congenital chloride diarrhea (CLD) gene

21 January 2018

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The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

21 January 2018

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

21 January 2018

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Long-term clinical outcome in patients with congenital chloride diarrhea

21 January 2018

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Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea.

21 January 2018

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Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

21 January 2018

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

21 January 2018

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Disruption of the SLC26A3-mediated anion transport is associated with male subfertility.

21 January 2018

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Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

21 January 2018

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Electrolyte Economy and Its Hormonal Regulation in Congenital Chloride Diarrhea

21 January 2018

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Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients

21 January 2018

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Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum

21 January 2018

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The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

21 January 2018

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A molecular mechanism for aberrant CFTR-dependent HCO(3)(-) transport in cystic fibrosis

21 January 2018

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Gating of CFTR by the STAS domain of SLC26 transporters

21 January 2018

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The emerging role of PDZ adapter proteins for regulation of intestinal ion transport

21 January 2018

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SLC26A3 mutations in congenital chloride diarrhea

21 January 2018

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Defects in Na /glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

21 January 2018

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The SLC26 gene family of multifunctional anion exchangers

21 January 2018

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Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment

21 January 2018

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The CFTR associated protein CAP70 interacts with the apical Cl-/HCO3- exchanger DRA in rabbit small intestinal mucosa.

21 January 2018

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Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas

21 January 2018

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slc26a3 (dra)-deficient mice display chloride-losing diarrhea, enhanced colonic proliferation, and distinct up-regulation of ion transporters in the colon

21 January 2018

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dbSNP: the NCBI database of genetic variation

21 January 2018

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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

21 January 2018

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Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization

21 January 2018

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Review article: the clinical management of congenital chloride diarrhoea

21 January 2018

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Oral butyrate in treatment of congenital chloride diarrhea

21 January 2018

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The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

21 January 2018

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

21 January 2018

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A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

21 January 2018

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The STAS domain - a link between anion transporters and antisigma-factor antagonists

21 January 2018

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7 January 2021

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

1 reference

7 January 2021

Downregulated in adenoma and putative anion transporter are regulated by CFTR in cultured pancreatic duct cells

1 reference

7 January 2021

Congenital Na diarrhea: a new type of secretory diarrhea

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7 January 2021

CFTR induces the expression of DRA along with Cl(-)/HCO(3)(-) exchange activity in tracheal epithelial cells

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21498

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24 August 2017

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