STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Infantile bilateral striatal necrosis maps to chromosome 19q.
|
14718703 |
2004 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
|
12374138 |
2002 |
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The following clusters were found in the dendrogram: Nrf2 and p21 with ATP5B and GADPH in all the tissues and with NRF1 in all except the tumor tissues with metastasis; Bach1 with ATP5B and GAPDH in the tumor tissues; Keap1 with p62 in all the tissues, with LC3 in the tumor tissues and with NRF1 and HO1 in the tumor tissues with metastasis.
|
31796664 |
2020 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Mechanistically, the Lmdd-MPFG vaccine activates the NF-κB pathway in the tumor-associated macrophages (TAMs) through the TLR2 and MyD88 pathway, and recruits p62 to activate the autophagy pathway.
|
31659256 |
2020 |
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The integrative approach uncovered novel miRNA-gene networks (e.g., miR-146 and miR-34 regulating p62 and Beclin1 in autophagy) that might give new insights into the complex regulatory mechanisms of gene expression in AD and cancer.
|
31608105 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results suggest a difference in HR23B aggregation and co-localization pattern with DPRs, pTDP-43 and p62 between different brain areas from C9FTD/ALS cases.
|
30867060 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previously, two ALS-FTLD-associated p62 mutant proteins within the Keap1 interacting region (KIR) of p62 were found to be associated with decreased Keap1-p62 binding and Nrf2 activation.
|
30954537 |
2019 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Co-localization of autophagy-related protein p62 with cancer stem cell marker dclk1 may hamper dclk1's elimination during colon cancer development and progression.
|
31040926 |
2019 |
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The role of p62 in cancer is controversial.
|
30793399 |
2019 |
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The integrative approach uncovered novel miRNA-gene networks (e.g., miR-146 and miR-34 regulating p62 and Beclin1 in autophagy) that might give new insights into the complex regulatory mechanisms of gene expression in AD and cancer.
|
31608105 |
2019 |
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
p62 was significantly upregulated in CRC, and a high p62 level was an independent risk factor for a poor prognosis in CRC patients. p62 promoted CRC migration and invasion by inhibiting apoptosis and promoting cell proliferation in vitro, and p62 aggravated tumour growth and metastasis in vivo.
|
30793399 |
2019 |
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Furthermore, upregulation of GLDC could significantly decrease p62 expression and impair intrahepatic metastasis in vivo.
|
30804330 |
2019 |
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Moreover, p62 can easily promote tumor metastasis.
|
31698589 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In immunohistochemical analysis, AGG-treated tumor displays higher caspase 3 expression and less p62 and NRF2 expression in comparison to the control.
|
31715238 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here we investigated some mechanistic aspects of these effects.In mammary tumors bearing-dogs, i.m. injections of p62 plasmid reduced tumor sizes and their aggressive potential in 5 out of 6 animals, with one carcinoma switching to adenoma.
|
31754084 |
2019 |