APC Membran-Rekrutierungsprotein 1
Das AMER1-Gen kodiert einen Trasnkriptionsfaktor, der unter anderem das das Wilms-Tumore Gen hochreguliert. Keimbahnmutationen führen zur kodominanten x-chromosomalen Erkrankung Osteopathia striata mit kranialer Sklerose. Somatische Mutationen wurden in Wilms-Tumoren gesehen.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Ota T et al. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs.
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| 2. |
Kimura K et al. (2006) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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| 3. |
Rivera MN et. al. (2007) An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.
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| 4. |
Major MB et al. (2007) Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling.
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| 5. |
Grohmann A et al. (2007) AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane.
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| 6. |
Jenkins ZA et al. (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
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| 7. |
Perdu B et al. (2010) Osteopathia striata with cranial sclerosis owing to WTX gene defect.
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| 8. |
Perdu B et al. (2011) Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
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| 9. |
Holman SK et al. (2011) The male phenotype in osteopathia striata congenita with cranial sclerosis.
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| 10. |
König R et al. (1996) Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.
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| 11. |
Keymolen K et al. (1997) How to counsel in osteopathia striata with cranial sclerosis.
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| 12. |
Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
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Update: 26. September 2018
