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SPRED1 gene

The SPRED1 gene encodes a protein which is like the protein encoded by the NF1 gene invoved in intracellular signal transduction. Mutations cause an autosomal dominant neurofibromatosis like syndrome.

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:

Legius syndrome
SPRED1

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

Orphanet article

Orphanet ID 159367 external link
14.

NCBI article

NCBI 161742 external link
15.

OMIM.ORG article

Omim 609291 external link
16.

Wikipedia article

Wikipedia EN (SPRED1) external link
Update: Aug. 14, 2020
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