|
rs529730514
|
UBE2V1;TMEM189-UBE2V1
|
Rett Syndrome
|
|
0.020 |
GeneticVariation |
BEFREE |
Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length.
|
19217433 |
2009 |
|
rs529730514
|
UBE2V1;TMEM189-UBE2V1
|
Rett Syndrome
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
|
18499664 |
2008 |
|
rs749456635
|
UBE2V1;TMEM189-UBE2V1
|
Amyotrophic Lateral Sclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we have characterized both protein and RNA TDP-43 interactors from neuropathologically normal (control) and ALS-affected ventral lumbar spinal cord, including sporadic ALS (sALS) and familial cases harboring either a A4T mutant SOD1 or a 3' UTR *c.41G>A mutant FUS/TLS or expressing pathological c9orf72 expanded repeats.
|
29513014 |
2018 |
|
rs749456635
|
UBE2V1;TMEM189-UBE2V1
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we have characterized both protein and RNA TDP-43 interactors from neuropathologically normal (control) and ALS-affected ventral lumbar spinal cord, including sporadic ALS (sALS) and familial cases harboring either a A4T mutant SOD1 or a 3' UTR *c.41G>A mutant FUS/TLS or expressing pathological c9orf72 expanded repeats.
|
29513014 |
2018 |
|
rs867403430
|
UBE2V1;TMEM189-UBE2V1
|
Frontotemporal dementia
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data show not only that the IVS1 + 5G > C mutation has an exclusive association with FTLD-TDP type A proteinopathy but also that other proteinopathies can occur and should be looked for.
|
29370838 |
2018 |
|
rs73598395
|
UBE2V1;TMEM189-UBE2V1
|
Diabetic Polyneuropathies
|
|
0.010 |
GeneticVariation |
BEFREE |
This study addressed the association of Leu54Phe and Val762Ala polymorphisms of PARP-1 with DPN in Russian type 1 diabetic (T1D) patients.
|
18054108 |
2008 |
|
rs1423493595
|
UBE2V1;TMEM189-UBE2V1
|
Carcinoma of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Loss of TP53-DNA interaction induced by p.C135R in lung cancer.
|
17914575 |
2007 |
|
rs1423493595
|
UBE2V1;TMEM189-UBE2V1
|
Malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Loss of TP53-DNA interaction induced by p.C135R in lung cancer.
|
17914575 |
2007 |
|
rs1423493595
|
UBE2V1;TMEM189-UBE2V1
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
These results demonstrate that the amino acid change C135R in the human TP53 generates the loss of TP53 DNA-binding activity directly affecting its role as a transcription factor and suggests that this observation can explain part of the phenotype described in patients affected by this type of tumor.
|
17914575 |
2007 |
|
rs1423493595
|
UBE2V1;TMEM189-UBE2V1
|
Non-Small Cell Lung Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation does not necessarily alter the protein function and since not all altered tumor protein p53 (TP53) conformations lead to the same biological properties, we studied Cys135Arg TP53 gene mutation in squamous cell type of non-small cell lung cancers (NSCLCs), by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and direct sequencing.
|
17914575 |
2007 |
|
rs1423493595
|
UBE2V1;TMEM189-UBE2V1
|
Primary malignant neoplasm of lung
|
|
0.010 |
GeneticVariation |
BEFREE |
Loss of TP53-DNA interaction induced by p.C135R in lung cancer.
|
17914575 |
2007 |
|
rs781517199
|
UBE2V1;TMEM189-UBE2V1
|
MYELODYSPLASTIC SYNDROME
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, point mutations of the AML1 gene, V105ter (single-letter amino acid code) and R139G, (single-letter amino acid codes) were identified in 2 cases of myelodysplastic syndrome (MDS) by means of the reverse transcriptase-polymerase chain reaction single-strand conformation polymorphism method.
|
11049997 |
2000 |