|
Amyotrophic Lateral Sclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
17824900 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD).
|
16240349 |
2005 |
|
Neoplasm Metastasis
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Furthermore, high p150 expression was more frequently seen in tumors at early invasive stages (p < 0.005), in tumors without metastases (both local and distant, p < 0.005) and in early TNM stages (p < 0.005) in general.
|
15382063 |
2004 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Several interactions of H19-hsa-mir-222-chromobox 2 (CBX2), H19-hsa-mir-330-phosphoinositide-3-kinase regulatory subunit 4 (PIK3R4), KCNQ1 opposite strand/antisense transcript 1 (KCNQ1OT1)/CTB-89H12.4-hsa-mir-374a-vascular endothelial growth factor A (VEGFA), MALAT1/X inactive specific transcript (XIST)/XIST antisense RNA (TSIX)-hsa-mir-340-tumor necrosis factor receptor superfamily member 10A (NFRSF10A) were identified to play key roles in the metastasis of ESCC.
|
30891809 |
2019 |
|
Rubella
|
0.020 |
Biomarker
|
disease |
BEFREE |
We measured antibodies to all rubella virus structural proteins (i.e., the glycoproteins E1 and E2 and the capsid C protein) and to the non-structural protein P150.
|
29145521 |
2017 |
|
Rubella
|
0.020 |
Biomarker
|
disease |
BEFREE |
The P150 and P90 replicase proteins of rubella virus (RUBV), a plus-strand RNA Togavirus, produce a unique cytoplasmic fiber network resembling microtubules.
|
20696450 |
2010 |
|
Frontotemporal dementia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD).
|
16240349 |
2005 |
|
Frontotemporal dementia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
17824900 |
2007 |
|
Congenital arteriovenous malformation
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Thus, the activity of the Vps34/Vps15 complex is critical in disease conditions such as AVMs, and possibly a variety of other lysosomal storage diseases.
|
23630012 |
2013 |
|
Blast Phase
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In this study, whole-transcriptome sequencing of normal, chronic phase, and serially transplantable blast crisis chronic myeloid leukemia (CML) progenitors revealed increased IFN-γ pathway gene expression in concert with BCR-ABL amplification, enhanced expression of the IFN-responsive ADAR1 p150 isoform, and a propensity for increased adenosine-to-inosine RNA editing during CML progression.
|
23275297 |
2013 |
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Deregulation of chromatin assembly factor 1, p150 subunit A (CHAF1A) has recently been reported to be involved in the development of some cancer types.
|
24845563 |
2014 |
|
Chediak-Higashi Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Analysis of the CHS polypeptide demonstrates that its modular architecture is similar to the yeast vacuolar sorting protein, VPS15.
|
8896560 |
1996 |
|
Diabetes
|
0.010 |
Biomarker
|
disease |
BEFREE |
On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated.
|
26387534 |
2015 |
|
Diabetes Mellitus
|
0.010 |
Biomarker
|
group |
BEFREE |
On depletion of Vps15, the metabolic syndrome in genetic and diet-induced models of insulin resistance and diabetes is alleviated.
|
26387534 |
2015 |
|
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans.
|
29311744 |
2018 |
|
Fatigue
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Mouse patellar tendons (PT) and flexor digitorum longus (FDL) tendons were fatigue loaded while an integrated plane polariscope simultaneously assessed crimp properties at P150 and P570 days of age to model mature and aged tendon phenotypes (N = 10-11/group).
|
31286548 |
2020 |
|
Glycogen storage disease type II
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both DD and GSDII show accumulation and altered localization of VPS15 in autophagy-incompetent fibers.
|
28102838 |
2017 |
|
Malignant neoplasm of stomach
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Statistical analysis revealed a close association between p150 overexpression and the clinicopathologic parameters of gastric cancer.
|
15382063 |
2004 |
|
Multiple Sclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis.
|
17824900 |
2007 |
|
Myopathy
|
0.010 |
Biomarker
|
group |
BEFREE |
Mice lacking Vps15 in skeletal muscles, develop a severe myopathy.
|
23630012 |
2013 |
|
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Furthermore, high p150 expression was more frequently seen in tumors at early invasive stages (p < 0.005), in tumors without metastases (both local and distant, p < 0.005) and in early TNM stages (p < 0.005) in general.
|
15382063 |
2004 |
|
Ovarian Carcinoma
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
The P2 promoter is CpG-rich and susceptible to methylation silencing. p150 expression was restored in OVCA cell lines following growth in the presence of 5-azacytidine.
|
23273547 |
2013 |
|
Lysosomal Storage Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Thus, the activity of the Vps34/Vps15 complex is critical in disease conditions such as AVMs, and possibly a variety of other lysosomal storage diseases.
|
23630012 |
2013 |
|
Cerebral atrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, we report that mutations in VPS15 are associated with cortical atrophy and epilepsy in humans.
|
29311744 |
2018 |
|
Parkinsonian Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
|
23143281 |
2013 |