Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NUP85 gene encodes a protein, nuclear pore complex protein Nup85, which is involved in formation of pores in the membrane of the nucleus and in signal transduction in immune processes. Mutations cause autosomal recessive congenital nephrotic syndrome type 17.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Doxsey SJ et al. (1994) Pericentrin, a highly conserved centrosome protein involved in microtubule organization. 
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| 2. |
Cronshaw JM et al. (2002) Proteomic analysis of the mammalian nuclear pore complex.
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| 3. |
Loïodice I et al. (2004) The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis.
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| 4. |
Terashima Y et al. (2005) Pivotal function for cytoplasmic protein FROUNT in CCR2-mediated monocyte chemotaxis.
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| 5. |
Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.
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| 6. |
Brohawn SG et al. (2008) Structural evidence for common ancestry of the nuclear pore complex and vesicle coats.
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| 7. |
Toda E et al. (2009) FROUNT is a common regulator of CCR2 and CCR5 signaling to control directional migration.
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| 8. |
Braun DA et al. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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