Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Legius-Syndrom
SPRED1

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
Update: 26. September 2018