Ataxia Telangiectasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We also found that low ATM (Ataxia-telangiectasia mutated) expression levels in RR cells showed a significant (p = 0.002) negative correlation with SF2 values.
|
30361826 |
2019 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In agreement with ATM involvement in the regulation of V(D)J recombination, patients with RA who show defective ATM function displayed a skewed B cell receptor (BCR) Igκ repertoire, which resembled that of patients with ataxia telangiectasia (AT).
|
31748230 |
2019 |
Ataxia Telangiectasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Metformin inhibits mTOR activity by activating ATM (ataxia telangiectasia mutated) and LKB1 (liver kinase B1) and then adenosine monophosphate-activated kinase (AMPK), and thus prevents protein synthesis and cell growth.
|
31114366 |
2019 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Reportedly, ataxia telangiectasia mutated (ATM)/ataxia telangiectasia and radiation resistance gene 3 related (ATR)-p53 signaling is considered as a critical DNA damage signaling pathway sensitizing cancer cells to chemotherapies; while wild-type p53-induced phosphatase 1 (WIP1), an oncogene overexpressed in diverse cancers, has been regarded as a critical inhibitor in the ATM/ATR-p53 DNA damage signaling pathway.
|
30387173 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia Telangiectasia (A-T) is neurodegenerative syndrome caused by inherited mutations inactivating the ATM kinase, a master regulator of the DNA damage response (DDR).
|
30679601 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia‑telangiectasia (A‑T) syndrome is a rare autosomal recessive disorder mainly caused by mutations in the A‑T mutated (ATM) gene.
|
31257506 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional classification of ATM variants in ataxia-telangiectasia patients.
|
31050087 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied 5 patients from 2 consanguineous Bedouin families of the same tribe, presenting with A-T. Whole-exome sequencing data identified the 2 aforementioned mutations in ATM, which segregated within all family members as expected of autosomal recessive heredity.
|
30124550 |
2018 |
Ataxia Telangiectasia
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
Zerumbone pretreatment markedly reduced ionizing radiation-induced upregulated expression of phosphorylated ATM (ataxia telangiectasia-mutated), which was partially reversed by the ATM agonist methyl methanesulfonate.
|
28602099 |
2018 |
Ataxia Telangiectasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Targeted knockdown of ATM (ataxia telangiectasia mutated) and ATR (ataxia telangiectasia and Rad3 related; HR regulators) and DNA-dependent protein kinase (NHEJ regulator) mRNAs revealed that the attenuation of HR or both HR and NHEJ regulators severely impaired blastocyst formation and quality.
|
29162700 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In summary, we propose a new Atm mouse model to investigate novel therapeutic strategies for ATM activation in ataxia telangiectasia disease.
|
29472706 |
2018 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia telangiectasia (A-T) is a primary immunodeficiency with mutations in the gene encoding the A-T mutated (ATM) protein that interacts with immune, hematopoietic, and endocrine targets resulting in broad multi-systemic clinical manifestations with a devastating outcome.
|
30420857 |
2018 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition.
|
29249681 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
A crucial role in these events is played by the ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR) kinases, which are hyperactive in AML.
|
30296357 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
ATM (ataxia telangiectasia mutated) deficiency resulted in reduced cell viability, a delay in the resolution of γH2AX expression and a significant increase in intracellular ROS in pulmonary epithelial cells after BLM treatment.
|
29172151 |
2018 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia-telangiectasia (A-T) is a neurodegenerative disease caused by mutation of the A-T mutated (ATM) gene.
|
29338042 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In response to genotoxic stress, ATM (ataxia telangiectasia-mutated) Ser/Thr kinase-mediated phosphorylation of FBXO31 at Ser-278 maintained FBXO31 levels.
|
30171069 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis.
|
28543935 |
2018 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The kinase ATM, which is mutated in the neurodegenerative, autosomal recessive disease ataxia-telangiectasia (A-T), is a key player in the nuclear DNA damage response.
|
29991649 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Moreover, the morphometry-based quantification data collected confirmed other findings associated with radiation sensitizing effects of ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR) inhibitor and the radiation protective effect of IL-22.
|
30409423 |
2018 |
Ataxia Telangiectasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The initiation and transduction of the DNA damage response (DDR) signaling pathway, which is dependent on the activation of ATM (ataxia-telangiectasia mutated) and ATR (ataxia telangiectasia and Rad3-related), is essential for DNA damage repair, the maintenance of genomic stability and cell survival.
|
29890208 |
2018 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice.
|
30400801 |
2018 |
Ataxia Telangiectasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Using western blotting, it was demonstrated that LDIR at 75 mGy induced the expression of ataxia-telangiectasia mutated (ATM) protein in PC-3 as well as RWPE-1 cells.
|
29115439 |
2018 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genome instability syndrome, ataxia-telangiectasia (A-T) is caused by null mutations in the ATM gene, that lead to complete loss or inactivation of the gene's product, the ATM protein kinase.
|
30348496 |
2018 |