|
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 |
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 |
|
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 |
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 |
GeneticVariation
|
group |
BEFREE |
The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family members of ovarian cancer patients, is the identification of carriers of pathogenic variant, who have inheredited predisposition to cancer development (test for cancer risk).
|
31176273 |
2019 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with a palpable thyroid nodule were eligible if surgical intervention was indicated after a positive or suspicious for malignancy FNAC (TIR 4-5 according to the 2007 Italian SIAPEC-IAP classification), or two inconclusive FNAC at a ≥3 months interval, or a negative FNAC associated with one or more risk factor.
|
29569123 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Moreover, the apoptosis‑suppressor gene baculoviral IAP repeat containing 5 BIRC5) was significantly repressed (by more than 90%) in both cell lines, as well as death‑associated protein kinase 1 (DAPK1) in MM‑231 cells and tumor protein 73 (TP73) in MM‑468 cells.
|
31173249 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
XMEN (X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia) is a complex primary immunological deficiency caused by mutations in MAGT1, a putative magnesium transporter.In this issue of the JCI, Ravell et al. greatly expand the clinical picture.
|
31815737 |
2020 |
|
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with a palpable thyroid nodule were eligible if surgical intervention was indicated after a positive or suspicious for malignancy FNAC (TIR 4-5 according to the 2007 Italian SIAPEC-IAP classification), or two inconclusive FNAC at a ≥3 months interval, or a negative FNAC associated with one or more risk factor.
|
29569123 |
2018 |
|
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family members of ovarian cancer patients, is the identification of carriers of pathogenic variant, who have inheredited predisposition to cancer development (test for cancer risk).
|
31176273 |
2019 |
|
Primary malignant neoplasm
|
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 |
|
melanoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Designed second mitochondrial activator of caspases (Smac) mimetics based on an accessible [7,5]-bicyclic scaffold bind to and antagonize protein interactions involving the inhibitor of apoptosis (IAP) proteins, X-chromosome-linked IAP (XIAP), melanoma IAP (ML-IAP), and c-IAPs 1 and 2 (cIAP1 and cIAP2).
|
17168540 |
2006 |
|
Neoplasm Metastasis
|
0.040 |
GeneticVariation
|
phenotype |
BEFREE |
Ezrin modulation by siRNA, inhibitors and T567A/D point mutations significantly downregulated inhibitors of apoptosis (IAP) proteins XIAP and survivin that have been linked to increased aberrant cell survival and metastasis and increased cell death.
|
24462708 |
2014 |
|
Pancreatic carcinoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The presence of a K-ras mutation in cytology specimens distinguishes PC from CC in this study. and IAP.
|
20720444 |
2010 |
|
Malignant neoplasm of pancreas
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The presence of a K-ras mutation in cytology specimens distinguishes PC from CC in this study. and IAP.
|
20720444 |
2010 |
|
Hematologic Neoplasms
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Given their role in the development and progression of solid tumors and hematologic malignancies, efforts are underway to develop therapeutic IAP inhibitors, with a focus on X-linked IAP (XIAP) and survivin.
|
16304383 |
2005 |
|
Adult Lymphoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Individuals with genetic deficiencies in MAGT1 have high levels of Epstein-Barr virus (EBV) and a predisposition to lymphoma.
|
23846901 |
2013 |
|
Adult Lymphoma
|
0.040 |
GeneticVariation
|
disease |
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 |
|
Childhood Lymphoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Individuals with genetic deficiencies in MAGT1 have high levels of Epstein-Barr virus (EBV) and a predisposition to lymphoma.
|
23846901 |
2013 |
|
Childhood Lymphoma
|
0.040 |
GeneticVariation
|
disease |
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 |