Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Protein bicaudal C homolog 1

Das BICC1-Gen kodiert ein RNA-Bindungsprotein, weilches in die Regulation der Translation involviert ist. Mutationen führen in autosomal dominanter Weise zu einer Neigung für zystischen Nierendysplasie.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Neigung zu zystischen Nierenfehlbildung
BICC1

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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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6.

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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7.

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

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