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Glypican-3

The GPC3 gene encodes a heparan sulfate proteoglycans which is bound to the outer membrane of cells and involved in various processes of cell growth and apoptosis. Germline deletions cause x-linked recessive Simpson-Golabi-Behmel syndrome and somatic mutations are found in Wilms tumor cells.

Genetests:

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
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Simpson-Golabi-Behmel syndrome 1
GPC3
Somatic nephroblastoma
GPC3
WT1

References:

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 external link
20.

OMIM.ORG article

Omim 300037 external link
21.

Orphanet article

Orphanet ID 122248 external link
22.

Wikipedia article

Wikipedia EN (Glypican_3) external link
Update: Aug. 14, 2020
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