|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry.
|
29724652 |
2018 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
This report extends the clinical knowledge of CMT4D and indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied.
|
17142040 |
2007 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
The characteristic N-Myc downstream-regulated gene 1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X.
|
24028195 |
2013 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
|
10831399 |
2000 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
MGD |
CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1).
|
21303696 |
2011 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, only four mutations in NDRG1 -c.442C>T (p.Arg148*), c.739delC (p.His247Thrfs*74), c.538-1G>A, and duplication of exons 6-8-have been described in CMT4D patients.
|
28776325 |
2017 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
MGD |
In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D.
|
15082788 |
2004 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
BEFREE |
In this study, we generated mice lacking Ndrg1 to analyze its function and elucidate the pathogenesis of Charcot-Marie-Tooth disease type 4D.
|
15082788 |
2004 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
To date, only four mutations in NDRG1 -c.442C>T (p.Arg148*), c.739delC (p.His247Thrfs*74), c.538-1G>A, and duplication of exons 6-8-have been described in CMT4D patients.
|
28776325 |
2017 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
BEFREE |
However, the cellular function of NDRG1 and how it causes CMT4D are poorly understood.
|
23813961 |
2013 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
|
10831399 |
2000 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT.
|
27982524 |
2017 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
|
0.970 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Consistent with these results, our immunohistochemical analysis revealed that PTEN expression correlates significantly with Drg-1 in both prostate and breast cancer cases.
|
15520163 |
2004 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
CTD_human |
Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers.
|
15341671 |
2004 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
The hypoxia-responsive lncRNA <i>NDRG-OT1</i> promotes NDRG1 degradation via ubiquitin-mediated proteolysis in breast cancer cells.
|
29535820 |
2018 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Two upregulated (EpCAM, FADD) and two downregulated (NDRG1, αB-crystallin) proteins were associated with the progression of breast cancer.
|
31443698 |
2019 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We have aimed to demonstrate the impact of TGF-β1 and fluvastatin on human breast cancer (MCF-7) and human hepatocellular carcinoma (Hep3B) cell cultures via Real-Time Cell Analyzer (RTCA) and to test the expression levels of some genes (NDRG1, SGK1, TWIST1, AMPKA2) and to compare their gene expression levels according to RTCA results.
|
26419593 |
2016 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemistry was used to evaluate the expression of the Cap43 protein in breast cancer patients (n = 96), and the relationship between Cap43 expression and clinicopathologic findings was examined.
|
16707596 |
2006 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The Gleason grade of prostate and breast cancers was found to correlate with Ndrg-1 expression, with more advanced and poorly differentiated tumors having lower Ndrg-1 levels.
|
16920733 |
2006 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
The analysis revealed that the lipid transport related genes LAPTM4B and NDRG1 are coamplified in breast cancer patients, and identified genes potentially cooperating with LAPTM4B in breast cancer progression.
|
27711123 |
2016 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Treatment with estradiol (E(2)) significantly decreased the expression of Cap43 in ER-alpha-positive breast cancer cell lines.
|
18224398 |
2008 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In breast cancer, elevated NDRG1 expression has been linked to clinical outcomes, but its functional role in breast cancer physiology has remained unclear.
|
29898756 |
2018 |