Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
Hydrocephalus
|
0.010 |
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 |
Congenital Hydrocephalus
|
0.010 |
Biomarker
|
disease |
BEFREE |
Based on these findings, we anticipate that future study will determine whether modulation of a SNX27/Notch/γ-secretase pathway can also be of therapeutic interest to congenital hydrocephalus.
|
27974614 |
2016 |
Tumor Progression
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Importantly, we found a PTEN somatic mutation (T401I) that is defective in disrupting the association between SNX27 and VPS26, suggesting a critical role for PTEN in controlling optimal GLUT1 levels at the membrane to prevent tumor progression.
|
29117568 |
2017 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
No obvious or critical role in ICL repair was seen for non-homologous end-joining (cku-80) or base excision repair (nth-1, exo-3), the Fanconi-related proteins BRC-2 (BRCA2/FANCD1) and FCD-2 (FANCD2), the WRN-1 or HIM-6 (BLM) helicases, or the GEN-1 or MRT-1 (SNM1) nucleases.
|
28934497 |
2017 |
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 |
Impaired cognition
|
0.020 |
Biomarker
|
disease |
BEFREE |
Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS.
|
29632483 |
2018 |
Cone-Rod Dystrophy 2
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition, SNX27 haploinsufficiency lowers the infiltration and activation of macrophage/microglia by suppressing their proliferation at the SCI lesion site.
|
30619032 |
2018 |
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 |
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Our data have demonstrated that SNX27 plays a crucial role in tumor growth in vitro and in vivo.
|
31182056 |
2019 |