CONE-ROD DYSTROPHY 12 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
|
26153215 |
2016 |
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 |
A novel and unique intronic mutation of PROM1, underlying autosomal recessive CRD in a consanguineous Israeli family, was found.
|
26702251 |
2015 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
|
19718270 |
2009 |
Cone-Rod Dystrophy 2
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
|
19718270 |
2009 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
|
17605048 |
2007 |
Retinitis Pigmentosa
|
0.440 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Retinitis Pigmentosa
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Malignant tumor of colon
|
0.400 |
Biomarker
|
disease |
BEFREE |
To determine the role of CD133 in colon cancer, we silenced CD133 in human colon cancer cells.
|
31736063 |
2020 |
Colorectal Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
This review aims to gather the old and most recent data on the prognostic and therapeutic values of CD133 and CD133-targeted therapies in CRC.
|
31579983 |
2020 |
Colorectal Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The in vitro evaluation in terms of cellular uptake and cytotoxicity demonstrated that the CD133-PCAD-DMSN@DOX specifically targets HT29 as a CD133 overexpressed cancer cells confirmed by flow cytometry and 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2-H-tetrazolium bromide assay.
|
31276199 |
2020 |
Glioblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
CD133 has reproducibly been shown to correlate with disease progression, recurrence, and poor overall survivorship in the malignant adult brain tumor, glioblastoma (GBM).
|
31695152 |
2020 |
Glioblastoma Multiforme
|
0.400 |
Biomarker
|
disease |
BEFREE |
CD133 has reproducibly been shown to correlate with disease progression, recurrence, and poor overall survivorship in the malignant adult brain tumor, glioblastoma (GBM).
|
31695152 |
2020 |
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 |
CD133+ colon cancer cells (LoVo) were infected with the lentiviral vector carrying CD133 gRNA and purified cell by culturing single cell colonies.
|
31393941 |
2019 |