SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Our work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 mutation, which broadens both the clinical and genetic spectrum for ADHSP.
|
31630374 |
2019 |
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
|
27005418 |
2016 |
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity.
|
28934391 |
2017 |
Obesity
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity.
|
31630374 |
2019 |
Spastic Paraplegia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity.
|
31630374 |
2019 |
Intellectual Disability
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity.
|
31630374 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
<i>EGFR</i> mutations in plasma cfDNA and tumor tissues by ADx-ARMS were detected.
|
31106124 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical analysis indicated that miR-4638-5p in micelle system could effectively downregulate the expression of Kidins220 and further improve the anticancer effect by enhancing tumor cell apoptosis and suppressing tumor cell proliferation.
|
30452268 |
2019 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Results from ARMS testing showed EGFR mutations in tumor tissues from six (6) of 50 NSCLC patients of Uygur ethnic group, with a positive rate of 12.0%; four of them (4) had exon 19 deletion in EGFR, and two (2) had L858R point mutation in exon 21 of EGFR.
|
23803047 |
2013 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Kidins220 is expressed in neuroblastoma tumors and stabilizes NGF-induced, but not BDNF-induced, survival signaling in neuroblastoma cell lines.
|
23999075 |
2013 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Kidins220 and tumour development: Insights into a complexity of cross-talk among signalling pathways (Review).
|
28849114 |
2017 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SNPase-ARMS qPCR: Ultrasensitive Mutation-Based Detection of Cell-Free Tumor DNA in Melanoma Patients.
|
26562020 |
2015 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The aim of this study was to evaluate patient and tumour characteristics, outcome and prognostic factors in adult patients with ERMS and ARMS.
|
31350181 |
2020 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
KRAS ARMS-qPCR assays with amplicon lengths of 120 and 85 base pairs, respectively, were compared using positive control material (PCR fragments) and plasma samples from 46 colorectal cancer patients known to harbor a tumor KRAS mutation.
|
25446878 |
2015 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Of all, 16 patients both had tumor and plasma samples, the T790M mutation rates were 56.3% (9/16) by ARMS in tissue and 50.5% (8/16) by ddPCR in plasma ctDNA.
|
28000387 |
2017 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
EGFR mutation status in plasma samples were tested with ADx-SuperARMS EGFR assay and tumor tissue samples were tested with ADx-ARMS EGFR assay.
|
28829813 |
2017 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We evaluated EGFR gene (exons 18, 19, 20 and 21) mutation status in paired plasma and tumor tissue from 94 NSCLC patients before EGFR-TKIs treatments using the Scorpion amplification refractory mutation system (Scorpion-ARMS) method.
|
26722512 |
2015 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay.
|
18032883 |
2007 |
Non-Small Cell Lung Carcinoma
|
0.060 |
Biomarker
|
disease |
BEFREE |
ADx-ARMS could be introduced into the clinical practice to identify NSCLC patients likely to benefit from TKI treatment, especially those with malignant pleural effusion.
|
24002698 |
2013 |
Non-Small Cell Lung Carcinoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
A Comparison of ddPCR and ARMS for detecting EGFR T790M status in ctDNA from advanced NSCLC patients with acquired EGFR-TKI resistance.
|
28000387 |
2017 |
Non-Small Cell Lung Carcinoma
|
0.060 |
Biomarker
|
disease |
BEFREE |
Comparison of EGFR mutation status between plasma and tumor tissue in non-small cell lung cancer using the Scorpion ARMS method and the possible prognostic significance of plasma EGFR mutation status.
|
26722512 |
2015 |
Non-Small Cell Lung Carcinoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The Scorpions amplification refractory mutation system (Scorpions ARMS) was used to measure mutations in exons 18, 19, 20 and 21 of the EGFR gene in paraffin-embedded tumor tissue from NSCLC cases, and statistical analysis was performed to investigate links with clinicopathological features in different histological types of NSCLC.
|
23803047 |
2013 |
Non-Small Cell Lung Carcinoma
|
0.060 |
Biomarker
|
disease |
BEFREE |
The detection sensitivity of nEV-DNA and cfDNA using ARMS-PCR in early-stage NSCLC was 25.7% and 14.2%, respectively, with 96.6% and 91.7% specificity, respectively.
|
30339193 |
2018 |
Non-Small Cell Lung Carcinoma
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to identify potential epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer that went undetected by amplification refractory mutation system-Scorpion real-time PCR (ARMS-PCR).
|
29214771 |
2018 |
Malignant Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
A sample of 201 patients and 311 controls without cancer were genotyped for 5 tagSNPs using tetra-primer ARMS and/or an allele-specific PCR technique.
|
22178231 |
2013 |