SPRED1-Gen

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

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

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

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

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

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

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

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

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

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

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

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

Orphanet article

NCBI article

OMIM.ORG article