|
Stargardt disease 4
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD.
|
29416601 |
2018 |
|
Stargardt disease 4
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4).
|
28437526 |
2017 |
|
Cone-Rod Dystrophy 2
|
0.480 |
Biomarker
|
disease |
BEFREE |
Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.
|
31136651 |
2019 |
|
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy.
|
24763286 |
2014 |
|
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy.
|
20859302 |
2011 |
|
Cone-Rod Dystrophy 2
|
0.480 |
Biomarker
|
disease |
BEFREE |
We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous family with clinical evidence of CRD.
|
26153215 |
2016 |
|
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.
|
21496248 |
2011 |
|
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
In this report, we highlight that pediatric cone-rod dystrophy with high myopia and nystagmus suggests recessive mutations in the gene PROM1.
|
24547909 |
2015 |
|
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
|
19718270 |
2009 |
|
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
A novel and unique intronic mutation of PROM1, underlying autosomal recessive CRD in a consanguineous Israeli family, was found.
|
26702251 |
2015 |
|
Retinitis Pigmentosa
|
0.440 |
Biomarker
|
disease |
BEFREE |
PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa.
|
28840994 |
2017 |
|
Retinitis Pigmentosa
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
|
17605048 |
2007 |
|
Retinitis Pigmentosa
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy.
|
20859302 |
2011 |
|
Retinitis Pigmentosa
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
|
27082927 |
2016 |
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
CD133-positive cancer stem cells in colon cancer are resistant to conventional chemotherapy.
|
23245395 |
2013 |
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
CD66c was absent in CD133-positive cells that were isolated from normal colon, whereas its expression was brightest (CD66c(bright) ) in CD133-positive cells from colon cancer samples.
|
23027178 |
2013 |
|
Malignant tumor of colon
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
CD133 is one of the most important cancer-initiating (stem) cell markers and was confirmed to be expressed in solid cancers such as colon cancer.
|
20379837 |
2010 |
|
Malignant tumor of colon
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
To elucidate the role of CD133 expression in chemoresistance, we silenced the CD133 expression in a colon cancer cell line and determined its effect on the biological characteristics downstream.
|
26002465 |
2015 |
|
Malignant tumor of colon
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Using three independent primary spheroidal colon cancer cultures that expressed a Wnt reporter construct we observed high Wnt activity was associated with the cell surface markers CD133, CD166, and CD29, but not CD24 and CD44, while the original study found all five markers were correlated with high Wnt activity (Figure 2F; Vermeulen et al., 2010).
|
31215867 |
2019 |
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
Colon cancer stem cell markers CD44 and CD133 in patients with colorectal cancer and synchronous hepatic metastases.
|
25625240 |
2015 |
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent studies suggest CD133, a surface protein widely used for isolation of colon cancer stem cells, to be associated with tumor angiogenesis and recurrence.
|
22231565 |
2013 |
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
Care must be taken if CD133 is used as the only marker of cancer stem cells in colon cancer, especially in established cell lines.
|
20023382 |
2010 |
|
Malignant tumor of colon
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Different results were also obtained using the two antibodies to analyze the expression of the CD133 molecule in human colon cancers.
|
20333645 |
2010 |
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
Various differentially expressed genes were identified and the most relevant transcripts found to be over-expressed in CD133(+) cells were evaluated by quantitative RT-PCR in the CD133(+) fractions isolated from several CC cell lines.
|
21826669 |
2011 |
|
Malignant tumor of colon
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
On the whole, our data indicated that patients with colon cancer with CD133-negative expression had a reduced disease-free survival.
|
29328371 |
2018 |