FEINGOLD SYNDROME 1
|
0.710 |
Biomarker
|
disease |
BEFREE |
These results indicate that while individuals with deletions of 2p spanning several megabases and including MYCN can present with features not typically associated with FS1, the common core features are usually present.
|
30088856 |
2018 |
FEINGOLD SYNDROME 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
|
18470948 |
2008 |
FEINGOLD SYNDROME 1
|
0.710 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
|
18470948 |
2008 |
FEINGOLD SYNDROME 1
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
|
18470948 |
2008 |
FEINGOLD SYNDROME 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Expanding the clinical spectrum of MYCN-related Feingold syndrome.
|
16906565 |
2006 |
FEINGOLD SYNDROME 1
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
FEINGOLD SYNDROME 1
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
FEINGOLD SYNDROME 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
FEINGOLD SYNDROME 1
|
0.710 |
ChromosomalRearrangement
|
disease |
ORPHANET |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
FEINGOLD SYNDROME 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
FEINGOLD SYNDROME 1
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
|
15821734 |
2005 |
FEINGOLD SYNDROME 1
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
FEINGOLD SYNDROME 1
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Ratios of plasma 3-methoxytyramine to normetanephrine were 7.2-fold higher (P < 0.0001) for patients who had neuroblastomas with MYCN amplification than without MYCN amplification.
|
31724812 |
2020 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The deregulated expression of microRNA (miR) is reported in NB; nonetheless, its effect on MYCN regulation is poorly understood.
|
31637848 |
2020 |
Neuroblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genomic profiles of 628 NB samples analyzed by array-comparative genome hybridization (a-CGH) were re-examined to identify gene amplifications other them MYCN amplification.
|
31756773 |
2020 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We established the model system, OHC-NB1, from a bone marrow metastasis from a patient diagnosed with MYCN-amplified neuroblastoma and performed whole-exome sequencing on the source metastasis and the different models and passages during model development (monolayer cell line, 3D spheroid culture and subcutaneous xenograft tumors propagated in mice).
|
31304977 |
2020 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
MYCN-amplification in neuroblastoma is associated with an aggressive clinical phenotype.
|
31685267 |
2020 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Accordingly, INSM1 has emerged as a critical player closely associated with N-Myc in facilitating NB cell growth.
|
30755485 |
2019 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations.
|
29314142 |
2019 |
Neuroblastoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Combination therapy with the CDK7/super-enhancer inhibitor THZ1 and the histone deacetylase inhibitor panobinostat synergistically reduces JMJD6, E2F2, N-Myc, c-Myc expression, induces apoptosis in vitro and leads to neuroblastoma tumor regression in mice, which are significantly reversed by forced JMJD6 over-expression.
|
31346162 |
2019 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings reveal a critical role of GLDC in sustaining the proliferation of neuroblastoma cells with high-level GLDC expression and suggest that MYCN amplification is a biomarker for GLDC-based therapeutic strategies against high-risk neuroblastoma.
|
31444411 |
2019 |
Neuroblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have identified alterations of the anaplastic lymphoma kinase (ALK) gene in neuroblastoma; ALK F1174L (a phenylalanine-to-leucine substitution at codon 1174) represents one of the most frequent of these somatic mutations, and is associated with amplification of the MYCN gene, the most reliable marker for the poor survival.
|
31218818 |
2019 |
Neuroblastoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
SIGNIFICANCE: This study presents a novel approach to drugging an amplified oncogene by showing that targeting gene amplification of <i>MYCN</i> suppresses MYCN expression and neuroblastoma growth.
|
30584073 |
2019 |
Neuroblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
CX-5461 repressed the growth of established MYCN-amplified neuroblastoma xenograft tumors in nude mice.
|
30542116 |
2019 |