|
Stuttering
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
An enrichment analysis demonstrated that the genes identified with the stuttering cortical network shared a significantly overrepresented biological functionality of Neurofilament Cytoskeleton Organization (NEFH, NEFL and INA).
|
31669185 |
2020 |
|
Spinal Muscular Atrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen.
|
31671515 |
2019 |
|
Parkinson Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2).
|
30833663 |
2019 |
|
Schizophrenia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Western blot analysis was used to compare protein levels of myelin basic protein, neurofilament heavy, autophagosome marker LC3, and microtubule marker α-tubulin in post-mortem human CB, CC, and AF in schizophrenia subjects (SZ) and matched normal controls (NC).
|
30735241 |
2019 |
|
Subarachnoid Hemorrhage
|
0.010 |
Biomarker
|
disease |
BEFREE |
SAH induced WMI shown as the accumulation of amyloid precursor protein and neurofilament heavy polypeptide as well as myelin loss.
|
30703614 |
2019 |
|
Postoperative cognitive dysfunction
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Serum Phosphorylated Neurofilament Heavy Subunit-H, a Potential Predictive Biomarker for Postoperative Cognitive Dysfunction in Elderly Subjects Undergoing Hip Joint Arthroplasty.
|
31029495 |
2019 |
|
Amyloidosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Correlation analysis revealed that miRNAs from the 3-factor model also correlated with levels of protein biomarker amyloid-beta1-42 and phosphorylated neurofilament heavy chain, indicating their potential role in the monitoring of progressive neuronal degeneration.
|
29746584 |
2018 |
|
Membranous glomerulonephritis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition, NEFH expression was significantly increased in renal biopsy specimens from patients with focal segmental glomerulosclerosis and membranous nephropathy, but in those with minimal change disease.
|
30464326 |
2018 |
|
Focal glomerulosclerosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition, NEFH expression was significantly increased in renal biopsy specimens from patients with focal segmental glomerulosclerosis and membranous nephropathy, but in those with minimal change disease.
|
30464326 |
2018 |
|
Rabies (disorder)
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of MAP2 and NF-H Associated with Dendritic Pathology in the Spinal Cord of Mice Infected with Rabies Virus.
|
29509660 |
2018 |
|
Epithelial ovarian cancer
|
0.010 |
Biomarker
|
disease |
BEFREE |
Through integrative methylomics, we discovered and validated the epigenetic signature of NEFH and HS3ST2 as an independent prognostic factor for type II EOC in our dataset (n = 84), and two independent methylomics datasets (total n = 467).
|
29732534 |
2018 |
|
Intellectual Disability
|
0.010 |
AlteredExpression
|
group |
BEFREE |
This gene has previously been implicated in intellectual disability and is apparently linked to FMR1 and NEFH overexpression associated with neurological disorders.
|
30567555 |
2018 |
|
Ocular Hypertension
|
0.010 |
Biomarker
|
disease |
BEFREE |
A significant decrease in phosphorylated neurofilament heavy chain immunoreactivity, an increase in ionized calcium-binding adaptor molecule 1(+), ED1(+) (microglial markers), and glial fibrillary acidic protein (astrocytes) (+) area, and decreased luxol fast blue staining were observed in the ON at 6 and 15 weeks of ocular hypertension.
|
28498493 |
2017 |
|
Optic Neuritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate the relationship between optic nerve sheath diameter, optic nerve diameter, visual acuity and osteopontin, and neurofilament heavy chain in patients with acute optic neuritis.
|
29085182 |
2017 |
|
Proximal weakness
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
This study also identified a de novo c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in NEFH from a CMT2 family with an atypical clinical symptom of prominent proximal weakness.
|
28544463 |
2017 |
|
Peripheral axonal neuropathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Therefore, this study suggests that the stop loss and translational elongations by the 3' UTR of the NEFH mutations may be a relatively frequent genetic cause of axonal peripheral neuropathy with the specific characteristics of proximal dominant weakness.
|
28544463 |
2017 |
|
Hypercholesterolemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to compare coronary calcium scores and aortic calcium scores between patients with severe hypercholesterolemia having a DNA-based diagnosis of FH (FH group) versus patients with severe hypercholesterolemia without the FH gene mutation (NFH group).
|
26666465 |
2016 |
|
Malignant neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
Neurofilament heavy polypeptide (NEFH) has recently been identified as a candidate DNA hypermethylated gene within the functional breast cancer hypermethylome.
|
25985363 |
2015 |
|
Neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Nevertheless, overexpression of CRT suppressed cell proliferation and enhanced cell differentiation in stNB-V1 cells, whereas blockage of VEGFR-1 markedly suppressed the expression of neuron-specific markers including GAP43, NSE2, and NFH, as well as TrkA, a molecular marker indicative of NB cell differentiation.
|
25288151 |
2015 |
|
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Neurofilament heavy polypeptide (NEFH) has recently been identified as a candidate DNA hypermethylated gene within the functional breast cancer hypermethylome.
|
25985363 |
2015 |
|
Central neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Nevertheless, overexpression of CRT suppressed cell proliferation and enhanced cell differentiation in stNB-V1 cells, whereas blockage of VEGFR-1 markedly suppressed the expression of neuron-specific markers including GAP43, NSE2, and NFH, as well as TrkA, a molecular marker indicative of NB cell differentiation.
|
25288151 |
2015 |
|
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Restoration of NEFH function, the major subunit of the neurofilament complex, reduces proliferation and growth of breast cancer cells and arrests them in Go/G1 phase of the cell cycle along with a reduction in migration and invasion.
|
25985363 |
2015 |
|
Childhood Neuroblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Nevertheless, overexpression of CRT suppressed cell proliferation and enhanced cell differentiation in stNB-V1 cells, whereas blockage of VEGFR-1 markedly suppressed the expression of neuron-specific markers including GAP43, NSE2, and NFH, as well as TrkA, a molecular marker indicative of NB cell differentiation.
|
25288151 |
2015 |
|
Renal Cell Carcinoma
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Neurofilament Heavy polypeptide CpG island methylation associates with prognosis of renal cell carcinoma and prediction of antivascular endothelial growth factor therapy response.
|
24464810 |
2014 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
Neurofilament Heavy polypeptide CpG island methylation associates with prognosis of renal cell carcinoma and prediction of antivascular endothelial growth factor therapy response.
|
24464810 |
2014 |