Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Extrazelluläres Matrixprotein FRAS1

Das FRAS1-Gen kodiert eine extrazelluläres Matrixprotein, welches eine wichtige Rolle bei der Adhäsion an der Basalmembran währen der Ontogenese zu spielen scheint. Mutationen sind für das autosomal rezessive Fraser-Syndrom verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Fraser-Syndrom
FRAS1
FREM2
GRIP1

Referenzen:

1.

Kiyozumi D et. al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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2.

Darling S et. al. (1994) A mouse model for Fraser syndrome?

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3.

McGregor L et. al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

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4.

Vrontou S et. al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

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5.

Petrou P et. al. (2005) Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome.

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6.

Slavotinek A et. al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

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7.

Cavalcanti DP et. al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

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8.

van Haelst MM et. al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.

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9.

Pitera JE et. al. (2008) Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

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