Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

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

Krankheiten:

Osteopathia striata mit kranialer Sklerose
AMER1

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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