Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis.
|
31820782 |
2020 |
Neoplasm Metastasis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
SNX27-retromer assembly recycles MT1-MMP to invadopodia and promotes breast cancer metastasis.
|
31820782 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Impaired cognition
|
0.020 |
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 |
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 |
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 |
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 |