Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Oxalat-Transporter SLC26A6

Der Oxalat-Transporter SLC26A6 is möglicherweise für das Syndrom der Hyperoxalurie mit Diarrhoe verantwortlich sein.

Diagnostik:

Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Nephrolithiasis-Diarrhoe-Syndrom
SLC26A6

Referenzen:

1.

Lohi H et. al. (2000) Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.

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2.

Waldegger S et al. (2001) Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.

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3.

Chernova MN et al. (2005) Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity.

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4.

Jiang Z et al. (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6.

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5.

Kleta R et al. (2006) A key stone cop regulates oxalate homeostasis.

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6.

Markovich D et al. (2007) Specificity and regulation of renal sulfate transporters.

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7.

Soleimani M et al. (2006) SLC26 chloride/base exchangers in the kidney in health and disease.

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8.

Kere J et al. (2006) Overview of the SLC26 family and associated diseases.

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9.

Sindić A et al. (2007) Renal physiology of SLC26 anion exchangers.

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10.

Sakhaee K et al. (2009) Recent advances in the pathophysiology of nephrolithiasis.

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