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Center for Nephrology and Metabolic Disorders
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Transcription factor SOX-17

The SOX17 gene encodes a transcription factor. Mutations cause vesicoureteral reflux 3.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial vesicoureteral reflux 3
SOX17

References:

1.

Gimelli S et al. (2010) Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

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2.

Kanai Y et al. (1996) Identification of two Sox17 messenger RNA isoforms, with and without the high mobility group box region, and their differential expression in mouse spermatogenesis.

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3.

None (2002) Molecular cloning and characterization of human SOX17.

external link
4.

Sinner D et al. (2004) Sox17 and beta-catenin cooperate to regulate the transcription of endodermal genes.

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5.

Liu Y et al. (2007) Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells.

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6.

Orphanet article

Orphanet ID 289375 external link
7.

NCBI article

NCBI 64321 external link
8.

OMIM.ORG article

Omim 610928 external link
9.

Wikipedia article

Wikipedia EN (SOX17) external link
Update: Aug. 14, 2020
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