|
Fabry Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Quantitative proteomics enabled the identification of >5,500 proteins in the cardiomyocyte proteome and secretome, and revealed accumulation of the lysosomal protein LIMP-2 and secretion of cathepsin F and HSPA2/HSP70-2 in FD.
|
31378672 |
2019 |
|
Lewy Body Disease
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
|
31116970 |
2019 |
|
Alzheimer's Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Relative mRNA expression of two SCARB2 and two TFEB transcripts was studied by real-time PCR in post-mortem brain samples of cases with pure Lewy body pathology (LBP), cases with concomitant LBP and Alzheimer disease-like pathology, and controls.
|
31116970 |
2019 |
|
Obesity
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
To study the location and expression of receptors (SR-BI/CLA-1, SR-BII, and LDLr) and transporter (ABCA1) involved in uptake and efflux of cholesterol in human spermatozoa and assess whether obesity alters its location/expression and whether this could be related to infertility.
|
30659447 |
2019 |
|
Enterovirus Infections
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Unexpected mode of engagement between enterovirus 71 and its receptor SCARB2.
|
30531980 |
2019 |
|
Hand, Foot and Mouth Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
Scavenger receptor class B member 2 (SCARB2) is the major receptor of EV71, as well as several other enteroviruses responsible for hand, foot and mouth disease, and plays a key role in cell entry<sup>2</sup>.
|
30531980 |
2019 |
|
Enterovirus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Severity of enterovirus A71 infection in a human SCARB2 knock-in mouse model is dependent on infectious strain and route.
|
30518755 |
2018 |
|
Enterovirus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
The atomic-resolution structure of the CVA10 virion, which is within the KREMEN1-dependent subgroup, shows significant conformational differences in the putative receptor binding sites and serotype-specific epitopes, when compared to the SCARB2-dependent subgroup of HEV-A, such as EV71, highlighting specific differences between the sub-groups.
|
30478256 |
2018 |
|
Enterovirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To evaluate the association of enterovirus 71 (EV71) susceptibility and clinical severity with polymorphisms in EV71 receptors, including human scavenger receptor class B member 2 (SCARB2), P-selectin glycoprotein ligand-1 (PSGL-1), and annexin II (ANXA2).
|
30395634 |
2018 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
|
30108127 |
2018 |
|
Enterovirus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
A CpG-adjuvanted intranasal enterovirus 71 vaccine elicits mucosal and systemic immune responses and protects human SCARB2-transgenic mice against lethal challenge.
|
30013088 |
2018 |
|
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4.
|
29941711 |
2018 |
|
REM Sleep Behavior Disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide polymorphisms in SCARB2 (rs6812193) and MAPT (rs12185268) were significantly associated with RBD.
|
29664058 |
2018 |
|
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
|
29605618 |
2018 |
|
Myoclonic Epilepsies, Progressive
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
|
29605618 |
2018 |
|
Unverricht-Lundborg Syndrome
|
0.390 |
Biomarker
|
disease |
BEFREE |
In this study, we identified a SCARB2-related PME patient with normal renal function and a novel homozygous splicing mutation.
|
29605618 |
2018 |
|
Renal Insufficiency
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
To describe the clinical and genetic features of a Chinese progressive myoclonus epilepsy (PME) patient related with SCARB2 mutation without renal impairment and review 27 SCARB2-related PME patients from 11 countries.
|
29605618 |
2018 |
|
Kidney Failure
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
|
29605618 |
2018 |
|
Myoclonus, Action
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
SCARB2 gene should be analyzed in patients with progressive action myoclonus, epilepsy, peripheral neuropathy, without cognitive deterioration or renal failure.
|
29605618 |
2018 |
|
Epilepsy, Rolandic
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
|
29358611 |
2018 |
|
Kidney Failure
|
0.050 |
Biomarker
|
disease |
BEFREE |
LIMP-2 deficiency is associated with neurological abnormalities and kidney failure and, as an acid glucocerebrosidase receptor, impacts Gaucher and Parkinson's diseases.
|
29199275 |
2017 |
|
Familial hematuria
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA of the siblings affected by FH with biopsy‑proven FSGS was analyzed, and their father was screened for 18 gene mutations associated with FSGS [nephrin, podocin, CD2 associated protein, phospholipase C ε, actinin α 4, transient receptor potential cation channel subfamily C member 6, inverted formin, FH2 and WH2 domain containing, Wilms tumor 1, LIM homeobox transcription factor 1 β, laminin subunit β 2, laminin subunit β 3, galactosida α, integrin subunit β 4, scavenger receptor class B member 2, coenzyme Q2, decaprenyl diphosphate synthase subunit 2, mitochondrially encoded tRNA leucine 1 (UUA/G; TRNL1) and SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1] using matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry technology.
|
29138824 |
2018 |
|
Enterovirus Infections
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Furthermore, immunohistochemistry was conducted to detect the distribution and expression level of two enterovirus 71 (EV71) receptors scavenger receptor class B, member 2 (SCARB2), and P-selectin glycoprotein ligand-1 (PSGL1) in the samples of autopsies.
|
28756983 |
2017 |
|
Smoking
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
|
28443625 |
2017 |