Burnett Schwartz Berberian syndrome
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) and LDL receptor-related protein 1 (<i>LRP1</i>), variations of which have been associated with autism spectrum disorder and keratosis pilaris atrophicans, respectively.
|
29545257 |
2018 |
Burnett Schwartz Berberian syndrome
|
0.520 |
Biomarker
|
disease |
BEFREE |
The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1.
|
26142438 |
2015 |
Burnett Schwartz Berberian syndrome
|
0.520 |
GeneticVariation
|
disease |
UNIPROT |
The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1.
|
26142438 |
2015 |
Burnett Schwartz Berberian syndrome
|
0.520 |
Biomarker
|
disease |
CTD_human |
|
|
|
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
The large number of detected loci, chief among them TRPM8, PRDM16, and LRP1, have enabled a number of in silico analyses, which have shed light on the functional and tissue-level aspects of the common risk variants for migraine, including evidence for involvement of both vascular and neuronal mechanisms.
|
29478595 |
2018 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASCAT |
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
|
27322543 |
2016 |
Migraine Disorders
|
0.480 |
Biomarker
|
group |
BEFREE |
Four of these genes (TRPM8, UFL1, FHL5 and LRP1) were located in close proximity to previously reported genome-wide significant SNPs for migraine, while two genes, TARBP2 and NPFF separated by just 259 bp on chromosome 12q13.13, represent a novel risk locus.
|
26660531 |
2016 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
To further replicate the GWAS findings, we investigated the 3 variants rs2651899 (1p36.32, PRDM16), rs10166942 (2q37.1, TRPM8), and rs11172113 (12q13.3, LRP1) for their association with migraine in the Chinese Han population.
|
24666033 |
2014 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
Five loci met stringent significance for association with migraine, among which four were selective for sub-classified migraine, including rs11172113 (LRP1) for MO.
|
24852292 |
2014 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
We report significant influence of rs1835740, LRP1 rs11172113 and PRDM16 rs2651899 polymorphisms on migraine susceptibility in the North Indian population.
|
24266335 |
2014 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASCAT |
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
|
23793025 |
2013 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASDB |
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
|
23793025 |
2013 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
Two out of three SNPs that showed genome-wide significant associations in the previous study: rs10166942 (near TRPM8) and rs11172113 (in LRP1) were significantly associated with migraine in the present study.
|
23294458 |
2013 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
We also replicated associations at two previously reported migraine loci in or near TRPM8 and LRP1.
|
22683712 |
2012 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASDB |
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
|
22683712 |
2012 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASCAT |
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
|
22683712 |
2012 |
Migraine Disorders
|
0.480 |
Biomarker
|
group |
CTD_human |
TRPM8 has been the focus of neuropathic pain models, whereas LRP1 modulates neuronal glutamate signaling, plausibly linking both genes to migraine pathophysiology.
|
21666692 |
2011 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
In a population-based genome-wide analysis including 5,122 migraineurs and 18,108 non-migraineurs, rs2651899 (1p36.32, PRDM16), rs10166942 (2q37.1, TRPM8) and rs11172113 (12q13.3, LRP1) were among the top seven associations (P < 5 × 10(-6)) with migraine.
|
21666692 |
2011 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASCAT |
TRPM8 has been the focus of neuropathic pain models, whereas LRP1 modulates neuronal glutamate signaling, plausibly linking both genes to migraine pathophysiology.
|
21666692 |
2011 |
Migraine Disorders
|
0.480 |
GeneticVariation
|
group |
GWASDB |
TRPM8 has been the focus of neuropathic pain models, whereas LRP1 modulates neuronal glutamate signaling, plausibly linking both genes to migraine pathophysiology.
|
21666692 |
2011 |
Colorectal Carcinoma
|
0.420 |
GeneticVariation
|
disease |
GWASCAT |
Discovery of common and rare genetic risk variants for colorectal cancer.
|
30510241 |
2019 |
Colorectal Carcinoma
|
0.420 |
GeneticVariation
|
disease |
GWASCAT |
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
|
31089142 |
2019 |
Colorectal Carcinoma
|
0.420 |
Biomarker
|
disease |
BEFREE |
Thus, this study suggests that siRNA-mediated knock-down of LRP could be a possible therapeutic strategy for the treatment of early and late stage colorectal carcinoma.
|
29843646 |
2018 |
Colorectal Carcinoma
|
0.420 |
Biomarker
|
disease |
BEFREE |
PRIMA-1met (APR-246) inhibits growth of colorectal cancer cells with different p53 status through distinct mechanisms.
|
26452133 |
2015 |