|
Hepatitis B
|
0.010 |
Biomarker
|
disease |
BEFREE |
In summary, our study suggests that HBV precore protein, specifically the p22 form, impedes JAK-STAT signaling to help the virus evade the host innate immune response and, thus, causes resistance to IFN therapy.<b>IMPORTANCE</b> Chronic hepatitis B virus (HBV) infection continues to be a major global health concern, and patients who fail to mount an efficient immune response to clear the virus will develop a life-long chronic infection that can progress to chronic active hepatitis, cirrhosis, and primary hepatocellular carcinoma.
|
31019054 |
2019 |
|
Chronic active hepatitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
In summary, our study suggests that HBV precore protein, specifically the p22 form, impedes JAK-STAT signaling to help the virus evade the host innate immune response and, thus, causes resistance to IFN therapy.<b>IMPORTANCE</b> Chronic hepatitis B virus (HBV) infection continues to be a major global health concern, and patients who fail to mount an efficient immune response to clear the virus will develop a life-long chronic infection that can progress to chronic active hepatitis, cirrhosis, and primary hepatocellular carcinoma.
|
31019054 |
2019 |
|
Polycystic Kidney Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys.
|
30042193 |
2018 |
|
Virus Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
We used cryogenic electron microscopy to obtain what is, to our knowledge, the first asymmetric reconstruction of mature bacteriophage P22 after double-stranded DNA has been extruded from the capsid-a state representative of one step during viral infection.
|
29590587 |
2018 |
|
Polycystic Kidney - body part
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including <i>Arg1</i>, an arginine metabolism-associated gene, were identified in late-stage polycystic kidneys.
|
30042193 |
2018 |
|
Oestrogen receptor positive breast cancer
|
0.010 |
Biomarker
|
disease |
BEFREE |
This work clearly demonstrated that the targeted combinatory treatment using multifunctional biocatalytic P22 represents the effective nanotherapeutics for ER+ breast cancer.
|
29463260 |
2018 |
|
estrogen receptor-negative breast cancer
|
0.010 |
Biomarker
|
disease |
BEFREE |
This work clearly demonstrated that the targeted combinatory treatment using multifunctional biocatalytic P22 represents the effective nanotherapeutics for ER+ breast cancer.
|
29463260 |
2018 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Recent studies reported the altered expression of DYNC1H1 in different cancers and DYNC1H1 was suggested to be potential biomarker in colorectal cancers.
|
28455235 |
2017 |
|
Chronic granulomatous disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The main genetic form is the X-linked CGD leading to the absence of cytochrome <i>b</i><sub>558</sub> composed of NOX2 and p22 <i>
|
28356734 |
2017 |
|
Toxoplasmosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
P35 and P22 Toxoplasma gondii proteins are recognized by specific IgG at the early infection stage, making them ideal for acute toxoplasmosis pregnancy control.
|
27658149 |
2017 |
|
Tuberculosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, the objective of this study was to carry out a proteomic characterisation of bPPD, aPPD and an immunopurified subcomplex from bPPD called P22 in order to identify proteins contributing to cross-reactivity among these three products in tuberculosis diagnosis.
|
29142508 |
2017 |
|
Encephalopathies
|
0.010 |
Biomarker
|
group |
BEFREE |
Taken together, these results demonstrate DYNC1H1 as a strong candidate and RTP1 as a potential candidate on the onset of EE.
|
28325891 |
2017 |
|
Lesion of brain
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We report on the detailed neuropathological features of brain lesions from 2 fetuses aged 36 and 22 weeks of gestation (WG), respectively, carrying de novo DYNC1H1 mutations, p.Arg2720Lys and p.Val3951Ala and presenting the most severe phenotype reported to date.
|
28395088 |
2017 |
|
Congenital anomaly of brain
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.
|
28395088 |
2017 |
|
Congenital myopathy (disorder)
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here, we present a detailed clinical and pathological examination of these patients, and show that patients with DYNC1H1 mutations may present with a phenotype mimicking a congenital myopathy.
|
28554554 |
2017 |
|
Malignant neoplasm of pancreas
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Previously, DYNC1H1 mutations have been associated with neurodegenerative diseases, however mutations of DYNC1H1 have not been fully investigated in cancers except for different types of pancreatic cancers.
|
28455235 |
2017 |
|
Adult Acquired Toxoplasmosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
P35 and P22 Toxoplasma gondii antigens abbreviate regions to diagnose acquired toxoplasmosis during pregnancy: toward single-sample assays.
|
27658149 |
2017 |
|
Spastic Paraplegia, Hereditary
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The cytoplasmic dynein heavy chain (DYNC1H1) gene has been implicated in various neurodegenerative disorders, and dynactin 1 (DCTN1) genes have been implicated in a wide spectrum of disorders including motor neuron disease, Parkinson's disease, spinobulbar muscular atrophy and hereditary spastic paraplegia.
|
26662454 |
2016 |
|
Paresis
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one of its cargo adaptors, BICD2.
|
25497877 |
2015 |
|
Spastic Paraplegia
|
0.010 |
Biomarker
|
disease |
BEFREE |
It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways.
|
26100331 |
2015 |
|
Muscle Weakness
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one of its cargo adaptors, BICD2.
|
25497877 |
2015 |
|
Motor Neuron Disease, Upper
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease.
|
26100331 |
2015 |
|
Inherited Peripheral Neuropathy
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this current study, we examined the possible contribution of other cytoplasmic dynein subunits that bind to DYNC1H1 as a cause of inherited peripheral neuropathy.
|
25028179 |
2014 |
|
Hyperglycemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
As a likely consequence of systemic mitochondrial dysfunction, Dync1h1 mutant mice develop hyperinsulinemia and hyperglycemia and progress to glucose intolerance with age.
|
23742762 |
2013 |
|
Hyperinsulinism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
As a likely consequence of systemic mitochondrial dysfunction, Dync1h1 mutant mice develop hyperinsulinemia and hyperglycemia and progress to glucose intolerance with age.
|
23742762 |
2013 |