Diamond-Blackfan Anemia 8
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
|
19061985 |
2008 |
Anemia, Diamond-Blackfan
|
0.450 |
Biomarker
|
disease |
BEFREE |
We also demonstrate that mutations of RPL5, RPL11, or RPS7 in DBA cells is associated with diverse defects in the maturation of ribosomal RNAs in the large or the small ribosomal subunit production pathway, expanding the repertoire of ribosomal RNA processing defects associated with DBA.
|
19061985 |
2008 |
Anemia, Diamond-Blackfan
|
0.450 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We also demonstrate that mutations of RPL5, RPL11, or RPS7 in DBA cells is associated with diverse defects in the maturation of ribosomal RNAs in the large or the small ribosomal subunit production pathway, expanding the repertoire of ribosomal RNA processing defects associated with DBA.
|
19061985 |
2008 |
Abnormality of radial ray
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
|
19061985 |
2008 |
Anemia, Diamond-Blackfan
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients.
|
20116044 |
2010 |
Diamond-Blackfan Anemia 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
DBA has been associated with mutations in seven ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients.
|
20116044 |
2010 |
Anemia, Diamond-Blackfan
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients.
|
21435509 |
2011 |
Malignant neoplasm of breast
|
0.300 |
Biomarker
|
disease |
CTD_human |
An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells.
|
21466612 |
2011 |
Breast Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells.
|
21466612 |
2011 |
Mammary Neoplasms, Human
|
0.300 |
Biomarker
|
disease |
CTD_human |
An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells.
|
21466612 |
2011 |
Mammary Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells.
|
21466612 |
2011 |
Mammary Carcinoma, Human
|
0.300 |
Biomarker
|
disease |
CTD_human |
An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells.
|
21466612 |
2011 |
Anemia, Diamond-Blackfan
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Several reports show that DBA is associated with mutations in the ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7.
|
22510774 |
2012 |
Anemia, Diamond-Blackfan
|
0.450 |
Biomarker
|
disease |
BEFREE |
Here we report the first two mouse mutations (Rps7(Mtu) and Rps7(Zma)) of ribosomal protein S7 (Rps7), a gene that has been implicated in Diamond-Blackfan anemia.
|
23382688 |
2013 |
Neoplasms
|
0.040 |
Biomarker
|
group |
BEFREE |
Both the in vitro anchorage-independent colony formation and in vivo animal tumor formation capability of cells were enhanced after RPS7 was depleted.
|
24244431 |
2013 |
Malignant Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Small ribosomal protein subunit S7 (RPS7) has been reported to be associated with various malignancies, but the role of RPS7 in ovarian cancer remains unclear.
|
24244431 |
2013 |
Carcinogenesis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
In sum, our results suggest that RPS7 suppresses ovarian tumorigenesis and metastasis through PI3K/AKT and MAPK signal pathways.
|
24244431 |
2013 |
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Interestingly, Rps7 mutants have additional overt malformations of the developing central nervous system and deficits in working memory, phenotypes that are not reported in murine or human RP gene mutants.
|
23382688 |
2013 |
Anemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Conversely, Rps7 mouse mutants show no anemia or hyperpigmentation, phenotypes associated with mutation of human RPS7 and other murine RPs, respectively.
|
23382688 |
2013 |
Eye Abnormalities
|
0.010 |
Biomarker
|
group |
BEFREE |
Rps7 disruption results in decreased body size, abnormal skeletal morphology, mid-ventral white spotting, and eye malformations.
|
23382688 |
2013 |
Neoplasm Metastasis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In sum, our results suggest that RPS7 suppresses ovarian tumorigenesis and metastasis through PI3K/AKT and MAPK signal pathways.
|
24244431 |
2013 |
ovarian neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, RPS7 may be used as a potential marker for diagnosis and treatment of ovarian cancer.
|
24244431 |
2013 |
Malignant neoplasm of ovary
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, RPS7 may be used as a potential marker for diagnosis and treatment of ovarian cancer.
|
24244431 |
2013 |
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We also showed that silencing of RPS7 enhanced ovarian cancer cell migration and invasion.
|
24244431 |
2013 |
Carcinoma, Ovarian Epithelial
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, RPS7 may be used as a potential marker for diagnosis and treatment of ovarian cancer.
|
24244431 |
2013 |