|
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
|
30578418 |
2019 |
|
X-linked retinitis pigmentosa
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase.
|
20631154 |
2010 |
|
X-linked retinitis pigmentosa
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
|
8817343 |
1996 |
|
X-linked retinitis pigmentosa
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
|
8673101 |
1996 |
|
Retinitis Pigmentosa
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase.
|
20631154 |
2010 |
|
RETINITIS PIGMENTOSA 3
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
|
8673101 |
1996 |
|
RETINITIS PIGMENTOSA 3
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
|
8817343 |
1996 |
|
Malignant neoplasm of thyroid
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we performed whole-exome sequencing on 10 tissue samples of metastases of RAI-refractory differentiated thyroid cancers and identified a recurrent hot-spot mutation (c.1924G>T) in the <i>RasGRP3</i> gene, which codes for Ras guanine nucleotide-releasing protein 3.
|
30323976 |
2018 |
|
Muscle Spasticity
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The mutation, which falls within the RCC1 domain, was identified in a 34-year-old patient with typical signs of JPLS such as ascending generalized and severe spasticity involving the limbs and the bulbar region, dysphagia, limb atrophy, preserved cognition and sensation.
|
16670179 |
2006 |
|
Breast Cancer, Familial
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1.
|
29363114 |
2018 |
|
Thyroid carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we performed whole-exome sequencing on 10 tissue samples of metastases of RAI-refractory differentiated thyroid cancers and identified a recurrent hot-spot mutation (c.1924G>T) in the <i>RasGRP3</i> gene, which codes for Ras guanine nucleotide-releasing protein 3.
|
30323976 |
2018 |
|
Nephronophthisis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8.
|
22899815 |
2012 |
|
Mammary Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression.
|
29363114 |
2018 |
|
Malignant neoplasm of breast
|
0.040 |
Biomarker
|
disease |
BEFREE |
In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population.
|
29363114 |
2018 |
|
Malignant neoplasm of breast
|
0.040 |
Biomarker
|
disease |
BEFREE |
The RCC-1-defined antigen detects a novel breast cancer associated antigen.
|
1699883 |
1990 |
|
Malignant neoplasm of breast
|
0.040 |
Biomarker
|
disease |
BEFREE |
In this study, we found that estrogen receptor β (ERβ) was more highly expressed in RCC cell lines (A498, RCC-1, 786-O, ACHN, and Caki-1) than in breast cancer cell lines (MCF-7 and HBL-100); however, no androgen receptor (AR) or estrogen receptor α (ERα) could be detected by western blot.
|
23460808 |
2013 |
|
Malignant neoplasm of breast
|
0.040 |
Biomarker
|
disease |
BEFREE |
Cell cycle regulatory protein 5 (Cdk5) is a novel downstream target of ERK in carboplatin induced death of breast cancer cells.
|
19075597 |
2008 |
|
Breast Carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population.
|
29363114 |
2018 |
|
Breast Carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
In this study, we found that estrogen receptor β (ERβ) was more highly expressed in RCC cell lines (A498, RCC-1, 786-O, ACHN, and Caki-1) than in breast cancer cell lines (MCF-7 and HBL-100); however, no androgen receptor (AR) or estrogen receptor α (ERα) could be detected by western blot.
|
23460808 |
2013 |
|
Breast Carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
Cell cycle regulatory protein 5 (Cdk5) is a novel downstream target of ERK in carboplatin induced death of breast cancer cells.
|
19075597 |
2008 |
|
Breast Carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
The RCC-1-defined antigen detects a novel breast cancer associated antigen.
|
1699883 |
1990 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Novel Ran-RCC1 Inhibitory Peptide-Loaded Nanoparticles Have Anti-Cancer Efficacy In Vitro and In Vivo.
|
30769871 |
2019 |
|
Malignant Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
All results demonstrated that Latcripin-4 RCC1 and ANK domain protein can inhibit the growth of human HepG2 liver cancer cells, which brings new insights to identifying antitumor proteins from medicinal food for cancer therapy.
|
30806297 |
2018 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Among 23 mice given injections of RCC-1 cells containing this YAC, 16 (70%) remained tumor free for at least 6 months, whereas tumor formation occurred after a median of 6 weeks in control mice given injections of either RCC-1 parental cells or a revertant cell line (in which the YAC had lost all human sequences) or RCC-1 parental cells containing other, unrelated YACs.
|
10491433 |
1999 |
|
Retinitis Pigmentosa
|
0.020 |
Biomarker
|
disease |
LHGDN |
Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
|
16052169 |
2005 |