Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Simpson-Golabi-Behmel-Syndrom
GPC3
Somatisches Nephroblastom
GPC3
WT1

Referenzen:

1.

Sood R et al. (2006) Gene expression patterns in human placenta.

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2.

Filmus J et. al. (1988) Isolation of a cDNA corresponding to a developmentally regulated transcript in rat intestine.

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3.

Filmus J et. al. (1995) Identification of a new membrane-bound heparan sulphate proteoglycan.

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4.

Pilia G et. al. (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.

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5.

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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6.

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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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.

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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9.

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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10.

White GR et. al. (2002) Somatic glypican 3 (GPC3) mutations in Wilms' tumour.

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11.

Rodríguez-Criado G et. al. (2005) Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

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12.

Sakazume S et. al. (2007) GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

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13.

Romanelli V et. al. (2007) Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

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14.

Pénisson-Besnier I et. al. (2008) Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.

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15.

Capurro MI et. al. (2008) Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding.

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16.

Filmus J et. al. (2008) Glypicans.

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17.

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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18.

Maurel M et. al. (2013) MicroRNA-1291-mediated silencing of IRE1α enhances Glypican-3 expression.

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