Protein bicaudal C homolog 1
Das BICC1-Gen kodiert ein RNA-Bindungsprotein, welches in die Regulation der Translation involviert ist. Mutationen führen in autosomal dominanter Weise zu einer Neigung für zystischen Nierendysplasie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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9. |
OMIM.ORG article
Omim 614295
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10. |
Orphanet article
Orphanet ID 292175
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Update: 14. August 2020