|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC.
|
30611022 |
2019 |
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.
|
28566166 |
2017 |
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
|
27153400 |
2016 |
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Neoplasms
|
0.380 |
Biomarker
|
group |
BEFREE |
Herein, a tumor cell specific "switch-on" PDT nanoplatform, which employs a well-designed hairpin structure mucl protein (MUC1) aptamer (Apt) as specific linker to conjugate gold nanorod and Chlorin e6 (Ce6) (GNR/Apt-Ce6) is prepared, and "switch on" via conformational changes of aptamer-induced fluorescence resonance energy transfer missing between GNR and Ce6 for selective tumor therapy.
|
31532896 |
2019 |
|
Neoplasms
|
0.380 |
Biomarker
|
group |
BEFREE |
Correction: CAPN1 is a novel binding partner and regulator of the tumor suppressor NF1 in melanoma.
|
30863494 |
2019 |
|
Neoplasms
|
0.380 |
AlteredExpression
|
group |
BEFREE |
A high expression level of calpain‑1 was strongly associated with age, metastasis, Dukes stage and survival time but not with sex, histologic grade, tumour location or tumor size.
|
31002357 |
2019 |
|
Neoplasms
|
0.380 |
AlteredExpression
|
group |
BEFREE |
Meanwhile, calpain-1 overexpression was associated with tumor site (P = 0.029), metastasis (P = 0.000), and TNM stage (P = 0.000), but showed no associations with histological grade (P = 0.396), age (P = 0.809), sex (P = 1.000), and lesion size (P = 0.679).
|
30565085 |
2019 |
|
Neoplasms
|
0.380 |
Biomarker
|
group |
BEFREE |
Ca<sup>2+</sup> in nanospheres activates transient receptor potential channels and calcium-sensing receptor on tumor cells, mediates calcium influx, and directly regulates the calpain-1-Bcl-2-caspase-3 signaling pathway to specifically suppress tumor growth without affecting normal cells.
|
29947213 |
2018 |
|
Neoplasms
|
0.380 |
Biomarker
|
group |
BEFREE |
CAPN1 is a novel binding partner and regulator of the tumor suppressor NF1 in melanoma.
|
30131853 |
2018 |
|
Neoplasms
|
0.380 |
AlteredExpression
|
group |
BEFREE |
As a result, a higher level of CAPN1 and ERK1 genes was related to larger tumor size, more aggressive and deeper growth according to TFG scale and SLUG level (p < 0.05).
|
27456359 |
2016 |
|
Neoplasms
|
0.380 |
Therapeutic
|
group |
CTD_human |
Aspirin Has Antitumor Effects via Expression of Calpain Gene in Cervical Cancer Cells.
|
19266085 |
2008 |
|
Neoplasms
|
0.380 |
AlteredExpression
|
group |
BEFREE |
Moreover, there was a correlation of higher calpain I expression with increased malignancy: within the clear cell carcinoma subset, tumor samples with advanced nodal status (N1 and N2) showed a significantly higher calpain I expression than tumors without metastasis to regional lymph nodes.
|
9988224 |
1999 |
|
Malignant Neoplasms
|
0.320 |
Biomarker
|
group |
BEFREE |
Meanwhile, calpain-1 is associated with malignant tumor progression and metastasis.
|
30565085 |
2019 |
|
melanoma
|
0.320 |
Biomarker
|
disease |
BEFREE |
Correction: CAPN1 is a novel binding partner and regulator of the tumor suppressor NF1 in melanoma.
|
30863494 |
2019 |
|
melanoma
|
0.320 |
Biomarker
|
disease |
BEFREE |
This novel mechanism for regulating NF1 in melanoma provides a molecular basis for targeting CAPN1 in order to stabilize NF1 levels and, in doing so, suppressing Ras activation; this mechanism can be exploited therapeutically in melanoma and other cancers.
|
30131853 |
2018 |
|
melanoma
|
0.320 |
Biomarker
|
disease |
CTD_human |
Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation.
|
22535842 |
2012 |
|
Malignant Neoplasms
|
0.320 |
Therapeutic
|
group |
CTD_human |
Aspirin Has Antitumor Effects via Expression of Calpain Gene in Cervical Cancer Cells.
|
19266085 |
2008 |
|
Malignant Neoplasms
|
0.320 |
AlteredExpression
|
group |
BEFREE |
Moreover, there was a correlation of higher calpain I expression with increased malignancy: within the clear cell carcinoma subset, tumor samples with advanced nodal status (N1 and N2) showed a significantly higher calpain I expression than tumors without metastasis to regional lymph nodes.
|
9988224 |
1999 |
|
Optic Neuritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Calcium influx and calpain activation mediate preclinical retinal neurodegeneration in autoimmune optic neuritis.
|
23860028 |
2013 |
|
Retrobulbar Neuritis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Calcium influx and calpain activation mediate preclinical retinal neurodegeneration in autoimmune optic neuritis.
|
23860028 |
2013 |