Review and update ofSPRED1mutations causing legius syndrome

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

(2011) Emily Spencer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Observations on intelligence and behavior in 15 patients with Legius syndrome

(2011) Ellen Denayer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Interaction of the receptor FGFRL1 with the negative regulator Spred1

(2011) Lei Zhuang et al.   CELLULAR SIGNALLING

Identification of five novel SPRED1 germline mutations in Legius syndrome

(2011) S Laycock-van Spyk et al.   CLINICAL GENETICS

Clinical manifestations of mutations in RAS and related intracellular signal transduction factors

(2011) Martin Zenker   CURRENT OPINION IN PEDIATRICS

miR126 positively regulates mast cell proliferation and cytokine production through suppressing Spred1

(2011) Takuma Ishizaki et al.   GENES TO CELLS

Sprouty-related Ena/Vasodilator-stimulated Phosphoprotein Homology 1-Domain-containing Protein (SPRED1), a Tyrosine-Protein Phosphatase Non-receptor Type 11 (SHP2) Substrate in the Ras/Extracellular Signal-regulated Kinase (ERK) Pathway

(2011) Martina Quintanar-Audelo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

(2010) C. Batz et al.   BLOOD

Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

(2010) T. N. Phoenix et al.   GENES & DEVELOPMENT

Legius syndrome in fourteen families

(2010) Ellen Denayer et al.   HUMAN MUTATION

Direct Association of Sprouty-related Protein with an EVH1 Domain (SPRED) 1 or SPRED2 with DYRK1A Modifies Substrate/Kinase Interactions

(2010) Dan Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SPRED 1 Mutations in a Neurofibromatosis Clinic

(2010) Talia M. Muram-Zborovski et al.   JOURNAL OF CHILD NEUROLOGY

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

(2010) B. Perez et al.   JOURNAL OF MEDICAL GENETICS

Striatal microRNA controls cocaine intake through CREB signalling

(2010) Jonathan A. Hollander et al.   NATURE

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

SPRED1 disorder and predisposition to leukemia in children

(2009) E. Pasmant et al.   BLOOD

Pigmentary Findings in Neurofibromatosis Type 1–like Syndrome (Legius Syndrome)

(2009) David Stevenson et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

(2009) E Pasmant et al.   JOURNAL OF MEDICAL GENETICS

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

(2009) E. Denayer et al.   JOURNAL OF NEUROSCIENCE

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

(2009) Hilde Brems et al.   LANCET ONCOLOGY

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL

The Endothelial-Specific MicroRNA miR-126 Governs Vascular Integrity and Angiogenesis

(2008) Shusheng Wang et al.   DEVELOPMENTAL CELL

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

(2008) Chih-Ping Chen et al.   European Journal of Medical Genetics

Spred1 and TESK1—Two New Interaction Partners of the Kinase MARKK/TAO1 That Link the Microtubule and Actin Cytoskeleton

(2008) Cindy Johne et al.   MOLECULAR BIOLOGY OF THE CELL