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Center for Nephrology and Metabolic Disorders
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Protein bicaudal C homolog 1

The BICC1 gene encodes an RNA binding protein which is involved in translation regulation. Mutations cause autosomal dominant susceptibility to cystic renal dysplasia.

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:

Susceptibility to cystic renal dysplasia
BICC1

References:

1.

Kraus MR et al. (2012) Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.

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2.

Wessely O et al. (2001) Identification and expression of the mammalian homologue of Bicaudal-C.

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3.

Cogswell C et al. (2003) Positional cloning of jcpk/bpk locus of the mouse.

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4.

Chicoine J et al. (2007) Bicaudal-C recruits CCR4-NOT deadenylase to target mRNAs and regulates oogenesis, cytoskeletal organization, and its own expression.

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5.

Maisonneuve C et al. (2009) Bicaudal C, a novel regulator of Dvl signaling abutting RNA-processing bodies, controls cilia orientation and leftward flow.

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6.

Tran U et al. (2010) The RNA-binding protein bicaudal C regulates polycystin 2 in the kidney by antagonizing miR-17 activity.

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7.

Ryan S et al. (2010) Autosomal recessive polycystic kidney disease epithelial cell model reveals multiple basolateral epidermal growth factor receptor sorting pathways.

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8.

NCBI article

NCBI 80114 external link
9.

OMIM.ORG article

Omim 614295 external link
10.

Orphanet article

Orphanet ID 292175 external link
Update: Aug. 14, 2020
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