|
ABLEPHARON-MACROSTOMIA SYNDROME
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The EGLN1 (rs480902) SNP had a significant correlation with hematocrit (HCT), HR and SaO(2) in AMS patients.
|
22595196 |
2012 |
|
ABLEPHARON-MACROSTOMIA SYNDROME
|
0.030 |
Biomarker
|
disease |
BEFREE |
In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively.
|
30278484 |
2018 |
|
ABLEPHARON-MACROSTOMIA SYNDROME
|
0.030 |
Biomarker
|
disease |
BEFREE |
To assess the association between EGLN1 and HIF-1AN SNPs and AMS in a Han Chinese population, a case-control study was performed including 190 patients and 190 controls.
|
25431923 |
2014 |
|
Acute kidney injury
|
0.200 |
Biomarker
|
disease |
RGD |
In rat models of acute renal injury, changes in PHD expression levels were variable; while cisplatin and ischemia/reperfusion led to significant decreases in PHD2 and 3 expression levels, no changes were seen in a model of contrast media-induced nephropathy.
|
19349364 |
2009 |
|
Acute mountain sickness
|
0.020 |
Biomarker
|
disease |
BEFREE |
Three SNPs within EPAS1 and EGLN1 were evaluated in Han and Tibetan patients with acute mountain sickness (AMS) and chronic mountain sickness (CMS).
|
22595196 |
2012 |
|
Acute mountain sickness
|
0.020 |
Biomarker
|
disease |
BEFREE |
Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.
|
25431923 |
2014 |
|
Acute myocardial infarction
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we report the localized myocardial delivery of shRNA against PHD2 through ultrasound-targeted microbubble destruction (UTMD) for protection the heart from acute myocardial infarction.
|
28042316 |
2017 |
|
Acute Undifferentiated Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeostasis (β-catenin and Notch), cell motility, and adhesion (integrin-β3, ras-related C3 botulinum toxin substrate [RAC], and fibronectin), hypoxia (Hypoxia-inducible factor 1-alpha [HIF1α], egl-9 family hypoxia-inducible factor 1 [Egln1], and glucose-regulated protein, 78 kDa [GRP78]), and apoptosis (B-cell lymphoma-extra large (BclXL) and caspase 9).
|
25248926 |
2015 |
|
Adenocarcinoma of lung (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Elevated PHD2 expression might only serve as a valuable biomarker of poor prognosis in LUAD, but no in LUSC.
|
30575913 |
2018 |
|
Adrenal Gland Pheochromocytoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development.
|
23418310 |
2013 |
|
Adrenal Gland Pheochromocytoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2.
|
21115163 |
2010 |
|
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 |
|
Adrenal Gland Pheochromocytoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.
|
25263965 |
2015 |
|
Adrenal Gland Pheochromocytoma
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
|
17579185 |
2007 |
|
Adrenal Gland Pheochromocytoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
In addition to these ten PCC susceptibility genes, two other genes, KIF1B and PHD2, have also been associated with PCC.
|
23061808 |
2013 |
|
Adult Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings show that PHD2 inhibits the adaptation of glioblastoma cells to hypoxia by regulating the HIF-α subunits in a non-canonical way.
|
25010988 |
2014 |
|
Altitude Hypoxia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The observed indicators of natural selection on EPAS1 and EGLN1 suggest that during the long-term occupation of high-altitude areas, the functional sequence variations for acquiring biological adaptation to high-altitude hypoxia have been enriched in Tibetan populations.
|
21030426 |
2011 |
|
Altitude Sickness
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
EPAS1 and EGLN1 associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau.
|
22595196 |
2012 |
|
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 |
|
Anemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
EglN1 is a 2-oxoglutarate-dependent dioxygenase; such enzymes can be inhibited with drug-like small molecules and EglN1 inhibitors are currently being tested for the treatment of anemia.
|
20973793 |
2010 |
|
Anemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
Therefore, it is valid to improve anemia by inhibiting HIF-PHD2.
|
28625716 |
2017 |
|
Anemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
Taken together, our results demonstrate for the first time that conditional loss of PHD2 in mice leads to HIF-2α-dependent erythrocytosis, whereas HIF-1α protects these mice, providing a platform for developing new treatments of EPO-related disorders, such as anemia.
|
23264599 |
2013 |
|
Anoxia
|
0.010 |
AlteredExpression
|
phenotype |
LHGDN |
Thus, we proposed that the accumulated EGLN1 in hypoxia acts as a negative-feedback mechanism to modulate HIF-1alpha target gene expression.
|
16157596 |
2005 |
|
Arthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
PHD-2 appears to regulate responses relevant to arthritis via HIF-α, highlighting the major importance of this enzyme in hypoxia- and angiogenesis-dependent inflammatory diseases such as RA.
|
22488178 |
2012 |
|
Autoimmune Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
In this issue of the JCI, Yamamoto, Hester, and colleagues show that temporal and reversible inhibition of PHD2 in vivo leads to systemic autoimmune disorder.
|
31355780 |
2019 |