Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SPRED1-Gen

Das SPRED1-Gen kodiert eine Protein, welches genauso wie das NF1 an der intrazellulären Signaltransduktion beteiligt ist. Mutationen führen zu einem auosomal dominanten Neurofibromatose-ähnlichen Syndrom.

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:

Legius-Syndrom
SPRED1

Referenzen:

1.

Wakioka T et. al. (2001) Spred is a Sprouty-related suppressor of Ras signalling.

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2.

Kato R et. al. (2003) Molecular cloning of mammalian Spred-3 which suppresses tyrosine kinase-mediated Erk activation.

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3.

Nonami A et. al. (2004) Spred-1 negatively regulates interleukin-3-mediated ERK/mitogen-activated protein (MAP) kinase activation in hematopoietic cells.

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4.

Inoue H et. al. (2005) Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness.

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5.

Brems H et. al. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

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6.

Wang S et. al. (2008) The endothelial-specific microRNA miR-126 governs vascular integrity and angiogenesis.

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7.

Pasmant E et. al. (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

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8.

Spurlock G et. al. (2009) SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

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9.

Hollander JA et. al. (2010) Striatal microRNA controls cocaine intake through CREB signalling.

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10.

Spencer E et. al. (2011) Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

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11.

Laycock-van Spyk S et. al. (2011) Identification of five novel SPRED1 germline mutations in Legius syndrome.

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12.

Brems H et. al. (2012) Review and update of SPRED1 mutations causing Legius syndrome.

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