Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The NCSTN gene encodes a transmembrane glycoprotein proteinase that cleaves several regulatory proteins. Mutations cause ausosomal dominant familial acne inversa 1 and PASH syndrome.
| 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 |
| 1. |
Zubenko GS et. al. (1998) A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution. 
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| 2. |
Lu P et. al. (2014) Three-dimensional structure of human γ-secretase.
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| 3. |
Pink AE et. al. (2011) PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).
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| 4. |
Wang B et. al. (2010) Gamma-secretase gene mutations in familial acne inversa.
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| 5. |
Kaether C et. al. (2004) The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity.
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| 6. |
Helisalmi S et. al. (2004) Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.
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| 7. |
FELDMAN RG et. al. (1963) FAMILIAL ALZHEIMER'S DISEASE.
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| 8. |
Pasternak SH et. al. (2003) Presenilin-1, nicastrin, amyloid precursor protein, and gamma-secretase activity are co-localized in the lysosomal membrane.
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| 9. |
Orlacchio A et. al. (2002) Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.
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| 10. |
Rozmahel R et. al. (2002) Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.
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| 11. |
Lee SF et. al. (2002) Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.
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| 12. |
Steiner H et. al. (2002) PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin.
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| 13. |
Dermaut B et. al. (2002) The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.
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| 14. |
Kopan R et. al. (2002) Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization.
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| 15. |
Goutte C et. al. (2002) APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos.
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| 16. |
Hiltunen M et. al. (2001) Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.
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| 17. |
Yu G et. al. (2000) Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.
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| 18. |
Kehoe P et. al. (1999) A full genome scan for late onset Alzheimer's disease.
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| 19. |
Foncin JF et. al. (1985) [Alzheimer's presenile dementia transmitted in an extended kindred].
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| 20. |
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