MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Activation by Cd is occluded by modification with 2-aminoethyl MTS (MTSEA), indicating that Cd binds directly and specifically to the substituted cysteines.
|
30498132 |
2019 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MTS is caused by variations in the nuclear TIMM8A gene, which is involved in mitochondrial transport of metabolites.
|
30634948 |
2019 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pathogenic mutations have been identified in the TIMM8A (DDP) and DNAJC19 (TIMM14) genes and are linked to Mohr-Tranebjærg syndrome and dilated cardiomyopathy syndrome (with and without ataxia), respectively.
|
30481057 |
2019 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RESULTS We found that the IC50 value of DDP (Cisplatin) to CHEK2 Y390C expressed MDA-MB-231 cells was significantly higher than that of the CHEK2 WT expressed cells and the control cells.
|
29761796 |
2018 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome).
|
23418071 |
2013 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
|
22736418 |
2012 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
|
22736418 |
2012 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
|
22736418 |
2012 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This can result from a gross deletion that not only involved the Bruton's tyrosine kinase (BTK) gene, but also TIMM8A, mutations in which underlie the Mohr-Tranebjærg syndrome (MTS).
|
21753765 |
2011 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human DDP1 cause the Mohr-Tranebjaerg syndrome (MTS/DFN-1; OMIM #304700), which is one of the two known human diseases of the mitochondrial protein import machinery.
|
19111522 |
2009 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
|
18952432 |
2008 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
|
18952432 |
2008 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.
|
17534980 |
2007 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a new case of Mohr-Tranebjaerg syndrome and report the characteristics of a new pathogenic de novo mutation (c.112C>T, pGln38X) in the TIMM8A gene.
|
17999202 |
2007 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Viability after dutasteride treatment was assayed by MTS (Promega) and apoptosis via caspase 3/7 by DEVD cleavage assay.
|
17477363 |
2007 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
We identified a new case of Mohr-Tranebjaerg syndrome and report the characteristics of a new pathogenic de novo mutation (c.112C>T, pGln38X) in the TIMM8A gene.
|
17999202 |
2007 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness syndrome.
|
15710860 |
2005 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia.
|
15390009 |
2004 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mohr-Tranebjaerg syndrome (MTS/DFN-1, deafness/dystonia syndrome) results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a) and loss of the 70 kDa complex.
|
15254020 |
2004 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mohr-Tranebjaerg syndrome (MTS/DFN-1, deafness/dystonia syndrome) results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a) and loss of the 70 kDa complex.
|
15254020 |
2004 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mohr-Tranebjaerg syndrome (MTS/DFN-1) or deafness/dystonia syndrome results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a).
|
11875042 |
2002 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation.
|
11956200 |
2002 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.
|
11875042 |
2002 |
MOHR-TRANEBJAERG SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
An archival human temporal bone specimen from a male patient with the Mohr-Tranebjaerg syndrome (formerly called DFN-1) and a well-characterized mutation was analyzed for the presence of the mutation by a standard method for extraction, isolation, amplification, and sequencing of deoxyribonucleic acid.The experiment was repeated four times.
|
12218636 |
2002 |