|
Glomerulonephritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
In ANCA-GN patients (n = 19), we discovered that U-PodCR was positively correlated with the percent of crescent formation until 50% crescent was reached because of podocyte depletion; U-PNR was correlated with the percent of crescent formation in all patients.
|
31768862 |
2020 |
|
Reflex Sympathetic Dystrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
We evaluated whether ESCS modifies tissue oxygen saturation (StO<sub>2</sub> ) measured with near-infrared spectroscopy (NIRS) in the affected limbs in patients diagnosed with CRPS type I.
|
30786089 |
2019 |
|
Cone monochromatism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700).
|
30614359 |
2019 |
|
Mycoplasma Infections
|
0.010 |
Biomarker
|
group |
BEFREE |
Here we describe a group of RNR proteins in Mollicutes-including Mycoplasma pathogens-that possess a metal-independent stable radical residing on a modified tyrosyl residue.
|
30429545 |
2018 |
|
Unspecified visual loss
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
To determine the progression of cone vision loss in patients with recessive disease from NR2E3 gene mutations.
|
29971438 |
2018 |
|
Adult Liver Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Lastly, we demonstrated that both AHR and NR2E3 are significantly associated with good clinical outcomes in liver cancer.
|
28878246 |
2017 |
|
Liver and Intrahepatic Biliary Tract Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Lastly, we demonstrated that both AHR and NR2E3 are significantly associated with good clinical outcomes in liver cancer.
|
28878246 |
2017 |
|
Malignant neoplasm of liver
|
0.010 |
Biomarker
|
disease |
BEFREE |
Lastly, we demonstrated that both AHR and NR2E3 are significantly associated with good clinical outcomes in liver cancer.
|
28878246 |
2017 |
|
Bacterial Infections
|
0.010 |
Biomarker
|
group |
BEFREE |
Although the E. coli RNR enzymes have been extensively characterized both biochemically and enzymatically, little is known about their roles during bacterial infection.
|
25605769 |
2015 |
|
Heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we used a swine model of myocardial infarction (MI) to test preliminarily a novel gene therapy for heart failure based on delivery of the human RNR enzyme complex under the control of a cardiac-specific promoter via an adeno-associated virus serotype 6 vector--designated as BB-R12.
|
25876005 |
2015 |
|
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we used a swine model of myocardial infarction (MI) to test preliminarily a novel gene therapy for heart failure based on delivery of the human RNR enzyme complex under the control of a cardiac-specific promoter via an adeno-associated virus serotype 6 vector--designated as BB-R12.
|
25876005 |
2015 |
|
Myocardial Infarction
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we used a swine model of myocardial infarction (MI) to test preliminarily a novel gene therapy for heart failure based on delivery of the human RNR enzyme complex under the control of a cardiac-specific promoter via an adeno-associated virus serotype 6 vector--designated as BB-R12.
|
25876005 |
2015 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Our results showed that PNR-induced cell migration and metastasis of ERα-negative breast cancer cells both in vitro and in vivo, and the effect was attributed to the upregulation of interleukin (IL)-13Rα2, a high-affinity receptor for IL-13 that regulates tumor growth, invasion and metastasis of various human cancers.
|
24747967 |
2015 |
|
Age related macular degeneration
|
0.010 |
Biomarker
|
disease |
BEFREE |
These data were supported further by murine chromatin immunoprecipitation demonstrating that FLT1 is a target of Nr2e3, a nuclear receptor gene implicated in regulating an AMD pathway.
|
24812550 |
2014 |
|
Retinal Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
|
24891813 |
2014 |
|
Disorder of macula of retina
|
0.010 |
Biomarker
|
group |
BEFREE |
While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and "torpedo-like" lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis.
|
23989059 |
2013 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The unique mechanisms by which PNR stimulates p53 acetylation and functions define this orphan nuclear receptor as a potentially valuable target and tool in p53-associated cancer therapy and offer new insights into the roles of PNR mutation in retinal diseases.
|
22025681 |
2012 |
|
Primary malignant neoplasm
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The unique mechanisms by which PNR stimulates p53 acetylation and functions define this orphan nuclear receptor as a potentially valuable target and tool in p53-associated cancer therapy and offer new insights into the roles of PNR mutation in retinal diseases.
|
22025681 |
2012 |
|
Oestrogen receptor positive breast cancer
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Moreover, expression of NR2E3 was significantly associated with recurrence-free survival and a favourable response to tamoxifen treatment in women with ER-positive breast cancer.
|
22174013 |
2012 |
|
Macular Edema, Cystoid
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Macular cysts in retinal dystrophy are seen in retinopathies caused by mutations in the NR2E3 gene, juvenile X-linked retinoschisis (XLRS), and some other retinal dystrophies.These must be distinguished from CME.
|
21730849 |
2011 |
|
Cholangiocarcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of p53R2 may predict gemcitabine resistance, and upregulated RNR activity may influence gemcitabine resistance in cholangiocarcinoma cells.
|
21451941 |
2011 |
|
Stargardt's disease
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Diseases that could be included in the EOCRDs are Leber congenital amaurosis, achromatopsia, congenital stationary night blindness, X-linked juvenile retinoschisis, Goldmann-Favre disease and other NR2E3-related disorders, and possibly some very early-onset forms of Stargardt disease and juvenile retinitis pigmentosa.
|
19825837 |
2010 |
|
Metamorphopsia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
setting: University-based practice. patient: A 48-year old Jewish Italian male with clinically, functionally, and molecularly confirmed ESCS, attributable to homozygosity for the R311Q mutation in the NR2E3 gene, presented with sudden visual acuity (VA) loss (20/200) and metamorphopsia in the left eye resulting from acute, late-onset, asymmetric macular RS. intervention: Open-label, off-label treatment with the oral CAI acetazolamide. main outcome measure(s): Best-corrected VA, retinal thickness, and retinal microanatomy, assessed by Stratus optical coherence tomography (OCT) criteria.
|
18835469 |
2009 |
|
Achromatopsia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones.
|
12187427 |
2002 |
|
Achromatopsia 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones.
|
12187427 |
2002 |