|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
CTD_human |
|
|
|
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Considering the role of proto-oncogene c-Met (c-Met) in oncogenesis, we examined the effects of the metastasis suppressor, N-myc downstream regulated gene-1 (NDRG1), and two NDRG1-inducing thiosemicarbazone-based agents, Dp44mT and DpC, on c-Met expression in DU145 and Huh7 cells.
|
31744884 |
2020 |
|
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 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
NDRG1 has been reported to exert pivotal roles in tumor progression and metastasis via Wnt/β-catenin signaling pathway.
|
31072445 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Our study could fulfill potential mechanisms of the NDRG1 during tumorigenesis and metastasis, which may serve as a tumor suppressor and potential target for new therapies in human colorectal cancer.
|
31831018 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
N-myc downstream regulated gene 1 (NDRG1) is an intriguing metastasis suppressor protein, which plays an important role in suppressing multiple oncogenic signaling pathways.
|
30763642 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
N-myc downstream regulated gene-1 (NDRG1) is a potent metastasis suppressor that is regulated by hypoxia, metal ions including iron, the free radical nitric oxide (NO<sup>.</sup>), and various stress stimuli.
|
31132412 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
NDRG1 is a metastasis suppressor and a prognostic biomarker for colorectal cancer (CRC).
|
30407715 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
These agents also upregulate the metastasis suppressor, N-myc downstream regulated gene 1 (NDRG1), which functions as an NF-κB signaling inhibitor.
|
29161883 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
N-myc downstream regulated gene 1 (NDRG1) has been well characterized as a suppressor of metastasis in numerous types of carcinoma.
|
31452779 |
2019 |
|
Neoplasm Metastasis
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
The metastasis suppressor NDRG1 down-regulates the epidermal growth factor receptor via a lysosomal mechanism by up-regulating mitogen-inducible gene 6.
|
30679310 |
2019 |