|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 (MAGT1) gene.
|
31714901 |
2020 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
In humans, loss-of-function mutations in the <i>MAGT1</i> gene cause X-linked magnesium deficiency with Epstein-Barr virus (EBV) infection and neoplasia (XMEN), a disease that has a broad range of clinical and immunological consequences.
|
31337704 |
2019 |
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
|
25504528 |
2015 |
|
Lymphoma
|
0.160 |
Biomarker
|
group |
BEFREE |
There are currently exciting opportunities to rationally exploit the therapeutic targeting of IAP proteins for the treatment of leukemia and lymphoma.
|
24487414 |
2014 |
|
Lymphoma
|
0.160 |
GeneticVariation
|
group |
BEFREE |
XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1].
|
25504528 |
2015 |
|
Lymphoma
|
0.160 |
GeneticVariation
|
group |
BEFREE |
Individuals with genetic deficiencies in MAGT1 have high levels of Epstein-Barr virus (EBV) and a predisposition to lymphoma.
|
23846901 |
2013 |
|
Lymphoma
|
0.160 |
AlteredExpression
|
group |
BEFREE |
We have recently characterized a novel PID now named "X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia" (XMEN) disease characterized by loss-of-function mutations in the gene encoding magnesium transporter 1 (MAGT1), chronic high-level EBV with increased EBV-infected B cells, and heightened susceptibility to EBV-associated lymphomas.
|
24550228 |
2014 |
|
Lymphoma
|
0.160 |
Biomarker
|
group |
BEFREE |
On one hand, the defective expansion of EBV-specific CD8 T cells results from mutations in genes involved in T-cell activation (such as RASGRP1, MAGT1, and ITK), DNA metabolism (CTPS1) or co-stimulatory pathways (CD70, CD27, and TNFSFR9 (also known as CD137/4-1BB)) leads to impaired elimination of proliferating EBV-infected B cells and the occurrence of lymphoma.
|
31402499 |
2019 |
|
Lymphoma
|
0.160 |
AlteredExpression
|
group |
BEFREE |
EBV control was improved by magnesium (Mg<sup>2+</sup>) supplementation in XMEN, an X-linked genetic disease associated with Mg<sup>2+</sup> deficiency, high circulating EBV levels (viral loads), and EBV-related lymphomas.
|
29248801 |
2018 |
|
Congenital Disorders of Glycosylation
|
0.130 |
Biomarker
|
group |
BEFREE |
Hence, we delineate MAGT1-CDG as a disorder associated with two different clinical phenotypes caused by defects in glycosylation.
|
31036665 |
2019 |
|
Congenital Disorders of Glycosylation
|
0.130 |
Biomarker
|
group |
BEFREE |
Indeed, mutations in the subunit paralogs N33/Tusc3 and IAP do not yield the pleiotropic phenotypes typical for CDG type I but specifically result in nonsyndromic mental retardation, suggesting that the oxidoreductase activity of these subunits is required for glycosylation of a subset of proteins essential for brain development.
|
21614585 |
2011 |
|
Congenital Disorders of Glycosylation
|
0.130 |
GeneticVariation
|
group |
BEFREE |
All known neurological CDG have an autosomal recessive inheritance except for IAP-CDG, an X-linked pure mental retardation syndrome.
|
23622397 |
2013 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Survivin, a unique member of the inhibitor of apoptosis (IAP) protein family, is highly expressed in cancer but is undetectable in nonproliferating normal adult tissues, suggesting a potential role in tumorigenesis.
|
15611788 |
2005 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
IAP-targeted therapies for cancer.
|
18931692 |
2008 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Smac mimetics are designed to neutralize inhibitor of apoptosis (IAP) proteins, thus reactivating the apoptotic program in cancer cells.
|
27424523 |
2016 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Survivin, a member of the inhibitor of apoptosis protein (IAP) gene family, has been detected widely in fetal tissue and in a variety of human malignancies.
|
15068902 |
2004 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Since IAP proteins have been linked to radioresistance in several malignancies, therapeutic targeting of IAP proteins may open new perspectives to overcome radioresistance.
|
22342104 |
2012 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Herein, the role of IAP proteins in cancer and strategies toward targeting IAP proteins for therapeutic intervention will be discussed.
|
18336193 |
2008 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Survivin was the smallest member of the IAP family, which was over expressed in many different cancers, and considered to be a promising hot target for cancer therapy, and our previous study demonstrated that multiple dominant negative mutants from full-length survivin could have many complex effects on cancer cells, such as cell cycle, apoptosis, and autophagy.
|
29371939 |
2017 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Our results identify IGF2BP1 as a critical translational regulator of cIAP1-mediated apoptotic resistance in RMS and advocate for the combined use of IAP antagonists and tumour necrosis factor-α as a therapeutic approach for this type of cancer.
|
24704827 |
2015 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We pay particular attention to pancreatic adenocarcinoma, an aggressive tumor that has a 5-year survival rate of 3-5%, and is the fourth leading cause of cancer mortality in the US. and IAP.
|
20299817 |
2010 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Inhibitors of Apoptosis Protein (IAP) genes participate in processes like apoptosis, proliferation, innate immunity, inflammation, cell motility, differentiation and in malignancies.
|
30385275 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
In recent years, the identification and characterization of the molecules and pathways that are involved in the regulation and execution of cell death in leukaemia and lymphoma cells, for example tumour necrosis factor-related apoptosis inducing ligand (TRAIL), 'inhibitor of apoptosis' (IAP) proteins and Bcl-2, have set the ground for the development of novel diagnostic tools and molecular therapeutics targeting apoptosis pathways in haematological malignancies.
|
19298593 |
2009 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
With respect to chemotherapy regimens, our results establish that memTNF-mediated killing is significantly augmented by IAP antagonists (Smac mimetics) in a broad spectrum of cancer types, and with their effects most prominently manifested in patient-derived xenograft (PDX) models in which cell-cell contacts are highly reminiscent of human tumors.
|
31645676 |
2019 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The X-linked inhibitor of apoptosis protein (XIAP) is a potent mammalian IAP, and has been shown to play an important role in development and progression of cancer.
|
18068526 |
2008 |