Global developmental delay
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
|
31721175 |
2020 |
Global developmental delay
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.
|
23524343 |
2013 |
Seizures
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.
|
23524343 |
2013 |
Generalized hypotonia
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.
|
23524343 |
2013 |
Intellectual Disability
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.
|
23524343 |
2013 |
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Down Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS.
|
29632483 |
2018 |
Complete Trisomy 21 Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS.
|
29632483 |
2018 |
Down Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
In addition, we find that γ-secretase/Notch modulation may be a candidate drug target in SNX27-associated hydrocephalus such as that observed in DS.
|
27974614 |
2016 |
Down Syndrome
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, trisomy-linked down-regulation of SNX27 expression in the brain of Ts65Dn mice, a model of Down syndrome, correlates with a decrease in GPR17(+) cells and an increase in mature oligodendrocytes, which, however, fail in reaching full maturation, eventually leading to hypomyelination.
|
27270750 |
2016 |
Complete Trisomy 21 Syndrome
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, trisomy-linked down-regulation of SNX27 expression in the brain of Ts65Dn mice, a model of Down syndrome, correlates with a decrease in GPR17(+) cells and an increase in mature oligodendrocytes, which, however, fail in reaching full maturation, eventually leading to hypomyelination.
|
27270750 |
2016 |
Complete Trisomy 21 Syndrome
|
0.030 |
Biomarker
|
disease |
BEFREE |
In addition, we find that γ-secretase/Notch modulation may be a candidate drug target in SNX27-associated hydrocephalus such as that observed in DS.
|
27974614 |
2016 |
Malignant neoplasm of breast
|
0.020 |
Biomarker
|
disease |
BEFREE |
SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis.
|
31820782 |
2020 |
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis.
|
31820782 |
2020 |
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
In this study, we analyzed the phenotype of the familial AD APP/PS mouse strain lacking one copy of the SNX27 gene.
|
30797171 |
2019 |
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
SNX27 is a trafficking component required for normal brain function whose deficit has been linked to Alzheimer's disease (AD) pathogenesis.
|
31000624 |
2019 |
Malignant neoplasm of breast
|
0.020 |
Biomarker
|
disease |
BEFREE |
We have generated a stable SNX27 knockdown clone in a highly aggressive breast cancer cell line MDA-MB-231 using an inducible lentiviral shRNA system.
|
31182056 |
2019 |
Impaired cognition
|
0.020 |
Biomarker
|
disease |
BEFREE |
These data suggest that downregulation of SNX27 alone does not have long-term negative consequences on spatial memory, but that cognitive dysfunction in the context of high Aβ deposition is exacerbated by the cellular or molecular changes induced by reduced SNX27 function.
|
30797171 |
2019 |
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
We have generated a stable SNX27 knockdown clone in a highly aggressive breast cancer cell line MDA-MB-231 using an inducible lentiviral shRNA system.
|
31182056 |
2019 |
Impaired cognition
|
0.020 |
Biomarker
|
disease |
BEFREE |
Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS.
|
29632483 |
2018 |
Neurodegenerative Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
SNX27 deficiency is now added to the growing list of neurodegenerative disorders associated with retromer dysfunction.
|
25894286 |
2015 |
Neurodegenerative Disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
With disruption of SNX27 and retromer function linked to synaptic dysfunction and neurodegenerative disease, our work provides the first step, to our knowledge, in the molecular description of this important sorting complex, and more broadly describes a unique interaction between a PDZ domain and an arrestin-like fold.
|
25136126 |
2014 |
Neoplasm Metastasis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis.
|
31820782 |
2020 |
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
|
31721175 |
2020 |
Invasive carcinoma of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Analysis from a publicly available database showed SNX27 to be overexpressed or frequently altered in the patients having invasive breast cancer.
|
31820782 |
2020 |