|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our data provide structural insight into the interaction of Spred1 and neurofibromin and characterize the structural or functional consequence of selected patient-derived mutations associated with Legius syndrome.
|
31401120 |
2019 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
|
28150585 |
2017 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.
|
27423141 |
2017 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM).
|
28643916 |
2017 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
These data clearly demonstrate that SPRED1 inhibits the Ras-ERK pathway by recruiting neurofibromin to Ras through the EVH1-GRD interaction, and this study also provides molecular basis for the pathogenic mutations of NF1 and Legius syndrome.
|
26635368 |
2016 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The SPRED1 gene also carries loss-of-function mutations in the RASopathy Legius syndrome.
|
27503857 |
2016 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Neurofibromatosis type 1 (NF1) and Legius syndrome are related diseases with partially overlapping symptoms caused by alterations of the tumor suppressor genes NF1 (encoding the protein neurofibromin) and SPRED1 (encoding sprouty-related, EVH1 domain-containing protein 1, Spred1), respectively.
|
27313208 |
2016 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
The SPRED1 gene also carries loss-of-function mutations in the RASopathy Legius syndrome.
|
27503857 |
2016 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
The discovery of SPRED1 as a cause of Legius syndrome which is manifested by CAL, freckling and learning difficulties has introduced substantial heterogeneity to the NIH criteria.
|
27322474 |
2016 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
|
25074460 |
2015 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
|
25981987 |
2015 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome.
|
25981987 |
2015 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We found a loss-of-function frameshift SPRED1 mutation in a patient with Legius syndrome.
|
24469042 |
2015 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Legius syndrome is a recently described syndrome caused by Sprouty-related, Ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1) mutations that also has multiple café-au-lait macules and intertriginous freckling.
|
23016555 |
2014 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in one feedback regulator of Ras/MAPK signaling, SPRED1 (Sprouty-related protein with an EVH1 domain), cause Legius syndrome, an autosomal dominant human disorder that resembles Neurofibromatosis-1 (NF1).
|
22751498 |
2012 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Review and update of SPRED1 mutations causing Legius syndrome.
|
22753041 |
2012 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
|
22751498 |
2012 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of five novel SPRED1 germline mutations in Legius syndrome.
|
21649642 |
2011 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
To determine if copy number changes (CNCs) are a cause of Legius syndrome, we have used a Multiplex Ligation-dependent Probe Amplification (MLPA) assay covering all SPRED1 exons in a cohort of 510 NF1-negative patients presenting with multiple CALMs with or without freckling, but no other NF1 diagnostic signs.
|
21548021 |
2011 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To determine if copy number changes (CNCs) are a cause of Legius syndrome, we have used a Multiplex Ligation-dependent Probe Amplification (MLPA) assay covering all SPRED1 exons in a cohort of 510 NF1-negative patients presenting with multiple CALMs with or without freckling, but no other NF1 diagnostic signs.
|
21548021 |
2011 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for NF1 were enrolled at the University of Utah NF Clinic, and SPRED1 mutation analysis was performed to identify the frequency of Legius syndrome within an NF1 clinic population.
|
20179001 |
2010 |