Glypican-3
Das GPC3-Gen kodiert Heparansulfat-Proteoglycan welches sich auf der Außenseite der Zellmembran befindet und bei verschiedenen Zellregulationsprozessen wie Zellteiung, Wachstum und Apoptose beteiligt ist. Keimbahnmutationen insbesondere Deletionen des Gens führen zu Simpson-Golabi-Behmel-Syndrom. Somatische Mutationen werden in Wilms-Tumorzellen gesehen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Pilia G et al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.
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2. |
Maurel M et al. (2013) MicroRNA-1291-mediated silencing of IRE1α enhances Glypican-3 expression.
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3. |
Shi W et al. (2009) A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface.
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4. |
Filmus J et al. (2008) Glypicans.
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5. |
Capurro MI et al. (2008) Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding.
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6. |
Veugelers M et al. (2000) Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
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7. |
Lindsay S et al. (1997) Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
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8. |
Shen T et al. (1997) Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization.
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9. |
Hughes-Benzie RM et al. (1996) Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
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10. |
Filmus J et al. (1995) Identification of a new membrane-bound heparan sulphate proteoglycan.
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11. |
Filmus J et al. (1988) Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.
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12. |
White GR et al. (2002) Somatic glypican 3 (GPC3) mutations in Wilms' tumour.
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13. |
Pénisson-Besnier I et al. (2008) Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
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14. |
Romanelli V et al. (2007) Germinal mosaicism in Simpson-Golabi-Behmel syndrome.
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15. |
Sakazume S et al. (2007) GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
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16. |
Rodríguez-Criado G et al. (2005) Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.
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17. |
Xuan JY et al. (1999) A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.
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18. |
Sood R et al. (2006) Gene expression patterns in human placenta.
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19. |
NCBI article
NCBI 2719
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20. |
OMIM.ORG article
Omim 300037
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21. |
Orphanet article
Orphanet ID 122248
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Update: 14. August 2020