|
Myopathy, Centronuclear, Autosomal Recessive
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly progressive muscle disorder typically showing abnormal nuclear centralization on biopsies.
|
23754947 |
2013 |
|
Myopathy, Centronuclear, Autosomal Recessive
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
|
17676042 |
2007 |
|
Myopathy, Centronuclear, Autosomal Recessive
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.
|
21129173 |
2010 |
|
Autosomal Recessive Centronuclear Myopathy
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
|
17676042 |
2007 |
|
Autosomal Recessive Centronuclear Myopathy
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly progressive muscle disorder typically showing abnormal nuclear centralization on biopsies.
|
23754947 |
2013 |
|
Autosomal Recessive Centronuclear Myopathy
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.
|
21129173 |
2010 |
|
Myopathy, Centronuclear, Autosomal Dominant
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
|
25260562 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Differential Methylation Levels in CpGs of the BIN1 Gene in Individuals With Alzheimer Disease.
|
31335457 |
2020 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in the BIN1 (rs744373) and IL-6 (rs1800795) genes are associated with AD.
|
26733302 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Altogether, five loci (rs6656401 at CR1, rs983392within MS4A6A, rs11218343 at SORL1, rs6733839 at BIN1, and APOE ε4) have been detected to be associated with one or a few established AD-related neuroimaging measures.
|
26732597 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The bridging integrator 1 Gene rs7561528 polymorphism contributes to Alzheimer's disease susceptibility in East Asian and Caucasian populations.
|
28302384 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study verified the association between PICALM, BIN1, CLU, and MS4A4E variants and AD susceptibility in Han Chinese populations.
|
25452228 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a subsequent promoter analysis, we found the single nucleotide polymorphism rs744373 C-allele to be associated with high mRNA levels of bridging integrator 1 (BIN1)/Amphiphysin 2, i.e. a major component of the endocytotic machinery and located in a crucial genetic AD risk locus.
|
26631617 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We hypothesized that the Bin1 monoclonal antibody (mAb) could be used in the treatment of AD by lowering the levels of Tau in cell culture and animal models.
|
31211444 |
2019 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
We propose that BIN1 mediates AD risk by modulating Tau pathology.
|
23399914 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals.
|
24582639 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, nsSNPs in CLU, PICALM and BIN1 genes were screened for their functional impact on concerned proteins and their plausible role in Alzheimer disease (AD) susceptibility.
|
22960267 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The increased proteome depth afforded by our TMT pipeline allowed us to identify and quantify a large number of alternatively spliced protein isoforms in brain, including AD risk factors such as BIN1, PICALM, PTK2B, and FERMT2.
|
30286791 |
2018 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
As a consequence, how BIN1 through its interaction with Tau affects AD risk is also still not determined.
|
28755476 |
2017 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Correlation of gene expression with well-established AD-related factors, such as α-, β-, and γ-secretase activities, brain amyloid-β42 levels, and cerebrospinal fluid biomarkers, revealed a positive correlation between β-secretase activity and the expression of TREM2 and BIN1.
|
25281018 |
2015 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions.
|
21321396 |
2011 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By contrast, genetic risk for Alzheimer disease (AD) was associated with worse item and associative memory, indicating adverse effects of APOE ε4 and a genetic risk score for AD (PICALM, BIN1, CLU) on episodic memory in general.
|
27647283 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Post-mortem and in vitro studies suggest that BIN1-associated AD risk is mediated by increased tau pathology but whether rs744373 is associated with increased tau pathology in vivo is unknown.
|
30992433 |
2019 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Predominant expression of Alzheimer's disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts.
|
27488240 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings demonstrate that rs744373 itself or a variation in linkage disequilibrium may provide a neurogenetic mechanism for BIN1 while further validating the possibility of combining genetic and neuroimaging strategies to monitor individuals at risk for AD.
|
25630570 |
2015 |