Review and update of SPRED1 mutations causing Legius syndrome (Q38023296)

27 August 2017

Review and update of SPRED1 mutations causing Legius syndrome (English)

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27 August 2017

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7

Ludwine Messiaen

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27 August 2017

3

Rick Van Minkelen

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27 August 2017

Hilde Brems

1

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27 August 2017

Eric Pasmant

2

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27 August 2017

Katharina Wimmer

4

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27 August 2017

Meena Upadhyaya

5

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27 August 2017

Eric Legius

6

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27 August 2017

language of work or name

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1 August 2012

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27 August 2017

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27 August 2017

33

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27 August 2017

11

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27 August 2017

1538-1546

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

27 August 2017

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https://api.crossref.org/works/10.1002%2FHUMU.22152

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Getting a first clue about SPRED functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

NF1 tumor suppressor gene function: narrowing the GAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Neurofibromin regulation of ERK signaling modulates GABA release and learning

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22152

Spred1 is required for synaptic plasticity and hippocampus-dependent learning

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22152

Legius syndrome in fourteen families.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22152

Observations on intelligence and behavior in 15 patients with Legius syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22152

Expression and subcellular localization of Spred proteins in mouse and human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

1.15 A crystal structure of the X. tropicalis Spred1 EVH1 domain suggests a fourth distinct peptide-binding mechanism within the EVH1 family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Striatal microRNA controls cocaine intake through CREB signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Spred1 and TESK1--two new interaction partners of the kinase MARKK/TAO1 that link the microtubule and actin cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Molecular cloning of mammalian Spred-3 which suppresses tyrosine kinase-mediated Erk activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Direct association of Sprouty-related protein with an EVH1 domain (SPRED) 1 or SPRED2 with DYRK1A modifies substrate/kinase interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

SPRED 1 mutations in a neurofibromatosis clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Spred-1 negatively regulates interleukin-3-mediated ERK/mitogen-activated protein (MAP) kinase activation in hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

SPRED1 disorder and predisposition to leukemia in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

GeneNote: whole genome expression profiles in normal human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Spred is a Sprouty-related suppressor of Ras signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

The endothelial-specific microRNA miR-126 governs vascular integrity and angiogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Spreds, inhibitors of the Ras/ERK signal transduction, are dysregulated in human hepatocellular carcinoma and linked to the malignant phenotype of tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Interaction of the receptor FGFRL1 with the negative regulator Spred1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

Identification of five novel SPRED1 germline mutations in Legius syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

inferred from DOI database lookup

7 January 2021

based on heuristic

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

inferred from DOI database lookup

7 January 2021

based on heuristic

Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22152

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22152

1 reference

27 August 2017

1 reference