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 |
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
Biomarker
|
disease |
BEFREE |
Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS.
|
29632483 |
2018 |
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 |
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 |
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 |
SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis.
|
31820782 |
2020 |
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 |
Impaired cognition
|
0.020 |
Biomarker
|
disease |
BEFREE |
Moreover, SNX27 deficiency is an important contributor for synaptic and cognitive impairment in DS.
|
29632483 |
2018 |
Breast Carcinoma
|
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 |
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 |
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 |
Strabismus
|
0.010 |
Biomarker
|
disease |
BEFREE |
We conclude that Wash-independent retromer function and the Snx27 cargo adaptor are important components in the endosomal recycling of Flamingo and Strabismus back to the plasma membrane and thus contribute to the establishment and maintenance of planar polarization.
|
30661800 |
2019 |
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 |
Respiratory Failure
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
One family previously reported with a homozygous SNX27 frameshift variant (c.515_516del;p.His172Argfs*6), exhibited infantile intractable myoclonic epilepsy, axial hypotonia, startle-like movements, cardiac septal defects, global developmental delay, failure to thrive, recurrent chest infections, persistent hypoxemia and early death secondary to respiratory failure.
|
31721175 |
2020 |
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 |
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 |
Refractory myoclonic epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
One family previously reported with a homozygous SNX27 frameshift variant (c.515_516del;p.His172Argfs*6), exhibited infantile intractable myoclonic epilepsy, axial hypotonia, startle-like movements, cardiac septal defects, global developmental delay, failure to thrive, recurrent chest infections, persistent hypoxemia and early death secondary to respiratory failure.
|
31721175 |
2020 |