|
Intervertebral Disc Degeneration
|
0.010 |
Biomarker
|
disease |
BEFREE |
With respect to PHD2, the most abundant PHD isoform in NP cells, very little is known concerning its function and regulation under inflammatory conditions that characterize intervertebral disc degeneration.
|
25635047 |
2015 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes.
|
20959442 |
2011 |
|
Renal Cell Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes.
|
20959442 |
2011 |
|
Adrenal Gland Pheochromocytoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes.
|
20959442 |
2011 |
|
Pheochromocytoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes.
|
20959442 |
2011 |
|
Liver regeneration disorder
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We sought to assess whether pharmacological inhibition of hypoxia-inducible transcription factor (HIF)-prolyl hydroxylase enzymes (PHD1, PHD2, and PHD3) is a suitable strategy to stimulate liver regeneration after partial hepatectomy for colorectal liver metastases (CRLM).
|
28266966 |
2017 |
|
Familial erythrocytosis
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We show that this mutation in PHD2 results in a marked decrease in enzyme activity and is associated with familial erythrocytosis, identifying a previously unrecognized cause of this condition.
|
16407130 |
2006 |
|
Erythrocytosis familial, 1
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We show that this mutation in PHD2 results in a marked decrease in enzyme activity and is associated with familial erythrocytosis, identifying a previously unrecognized cause of this condition.
|
16407130 |
2006 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We show that PHD2 haplodeficiency reduced metastasis via two mechanisms: (1) by decreasing CAF activation, matrix production, and contraction by CAFs, an effect that surprisingly relied on PHD2 deletion in cancer cells, but not in CAFs; and (2) by improving tumor vessel normalization.
|
26235614 |
2015 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
We show that PHD2 haplodeficiency reduced metastasis via two mechanisms: (1) by decreasing CAF activation, matrix production, and contraction by CAFs, an effect that surprisingly relied on PHD2 deletion in cancer cells, but not in CAFs; and (2) by improving tumor vessel normalization.
|
26235614 |
2015 |
|
Malignant Neoplasms
|
0.090 |
GeneticVariation
|
group |
BEFREE |
We reveal that certain PHD2 variants linked to familial erythrocytosis and cancer are highly selective for CODD or NODD.
|
27561929 |
2016 |
|
Primary malignant neoplasm
|
0.080 |
GeneticVariation
|
group |
BEFREE |
We reveal that certain PHD2 variants linked to familial erythrocytosis and cancer are highly selective for CODD or NODD.
|
27561929 |
2016 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We provide evidence that the suppression of the LDH-A gene leads to an increased level of hypoxia inducible factor 1α (HIF1α) but in consequence not to an increase of HIF1 regulated proteins such as carbonic anhydrase IX (CAIX), vascular endothelial growth factor (VEGF), prolyl-hydroxylase 2 (PHD2), and factor-inhibiting HIF (FIH) in cell cultures and tumor lysates.
|
21660559 |
2011 |
|
Avascular necrosis of bone
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We previously reported that macrophages genetically modified to express low levels of prolyl hydroxylase domain protein 2 (PHD2) display an arteriogenic phenotype, which promotes the formation of collateral vessels and protects the skeletal muscle from ischaemic necrosis.
|
23616286 |
2013 |
|
Parkinson Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
We previously reported that inhibition of the enzyme prolyl hydroxylase domain 2 (PHD2) in conjunction with increases in hypoxia-inducible factor 1 alpha (HIF1α) results in protection of vulnerable dopaminergic substantia nigra pars compacta (DAergic SNpc) neurons in in vitro and in vivo models of PD.
|
29471019 |
2018 |
|
Malignant neoplasm of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We observed a significant association between the selected Tibetan EGLN1/PHD2 haplotype and lung cancer (p=0.0012 for D4E, p=0.0002 for C127S), corresponding to a two-fold increase in lung cancer risk.
|
28036300 |
2017 |
|
Carcinoma of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We observed a significant association between the selected Tibetan EGLN1/PHD2 haplotype and lung cancer (p=0.0012 for D4E, p=0.0002 for C127S), corresponding to a two-fold increase in lung cancer risk.
|
28036300 |
2017 |
|
Primary malignant neoplasm of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We observed a significant association between the selected Tibetan EGLN1/PHD2 haplotype and lung cancer (p=0.0012 for D4E, p=0.0002 for C127S), corresponding to a two-fold increase in lung cancer risk.
|
28036300 |
2017 |
|
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
We hypothesized that PHD2 inhibition would restore vigorous muscle regeneration in a murine model of obesity.
|
28725215 |
2017 |
|
Malignant tumor of colon
|
0.020 |
Biomarker
|
disease |
BEFREE |
We have demonstrated that ccRCC cells express low incidence of PHD2 (32%), undetectable PHD3, high incidence of HIF-α (92%), and low incidence of VEGF-A compared to head & neck and colon cancers.
|
22804960 |
2012 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We found that that high PHD2 expression was significantly associated with higher stage (stages III + IV) (odds ratio [OR] = 5.576, P < 0.001), larger tumor size (> 5 cm) (OR = 6.176, P < 0.001), poorer tumor differentiation (OR = 1.424, P = 0.003), and higher serum alpha fetoprotein (AFP) level (OR = 6.861, P < 0.001).
|
25546659 |
2014 |
|
Enteritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We found that deletion of PHD2 in IECs did not lead to spontaneous enteritis or colitis in mice.
|
29688249 |
2018 |
|
Amino acid transport disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We describe the genetic mapping of hyperphenylal-aninemia 2 (hph2), a recessive mutation in the mouse that causes deficient amino acid transport similar to Hartnup disorder, a human genetic amino acid transport disorder.
|
9060407 |
1997 |
|
Paraganglioma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with erythrocytosis and recurrent paraganglioma who carries a newly discovered PHD2 mutation.
|
19092153 |
2008 |
|
Pneumonia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We demonstrate that myeloid-specific loss of Phd2 resulted in an exaggerated inflammatory response to Streptococcus pneumonia, with increases in neutrophil motility, functional capacity, and survival.
|
28805660 |
2017 |