Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT.
|
30772474 |
2020 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Children with ataxia telangiectasia (AT), a primary immunodeficiency caused by mutations in ATM, which is critical for repairing DNA defects, are at risk for the development of hematologic malignancy, frequently driven by infection with Epstein-Barr virus (EBV).
|
31850668 |
2020 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Next, Pull-down assay and dual-luciferase reporter assay verified that miR-421 was a target of circ_0001546 while ATM (Ataxia telangiectasia mutated) was target by miR-421.
|
31668372 |
2020 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the ATM gene cause Ataxia-telangiectasia (A-T), characterized by cerebellar ataxia and cancer predisposition.
|
31690822 |
2020 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder caused by mutations of ATM gene.
|
31691010 |
2020 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
These have resulted in higher resolution structural models of the signalling proteins ATM (ataxia telangiectasia mutated), and ATR (ataxia telangiectasia and Rad3-related protein), along with various structures of Rad51.
|
31748913 |
2020 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning.
|
31709473 |
2020 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the study the modulating effect of inhibition of phosphatidylinositol 3-kinase-related kinases (PIKK): ATM (Ataxia Telangiectasia Mutated), ATR (Ataxia Telangiectasia and Rad3 Related) and DNA-PK (DNA-dependent protein kinase) on genotoxicity of dibenzo[def,p]chrysene (DBC) in HepG2 human hepatocellular cancer cells was investigated.
|
31838185 |
2020 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unexpectedly, the DNA damage response serine/threonine kinase ATM (mutated in Ataxia-Telangiectasia) was found to be essential for ferroptosis.
|
31320750 |
2020 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in ATM are found in ataxia-telangiectasia (A-T) patients and ATM is one of the most frequently mutated genes in many cancers.
|
31740029 |
2020 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATM gene result in a condition known as ataxia-telangiectasia (A-T) that is characterized by cancer predisposition, radiosensitivity, neurodegeneration, sterility, and acquired immune deficiency.
|
31189575 |
2019 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The pathogenesis of A-T is not limited to the role of ATM in the DNA damage response (DDR) pathway, and it has other functions mainly in the hematopoietic cells and neurons.
|
30685876 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this report, we present the genetic characterization of a 4-year-old female with clinical diagnosis of A-T. Next-generation sequencing (NGS) revealed two novel heterozygous mutations in the ATM gene: a single-nucleotide variant (SNV) at exon 47 (NM_000051.3:c.6899G > C; p.Trp2300Ser) and ∼90 kb genomic duplication spanning exons 17-61, NG_009830.1:g.(41245_49339)_(137044_147250)dup.
|
30888062 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.
|
31669783 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia‑telangiectasia (A‑T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM serine/threonine kinase (ATM) gene.
|
30816533 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Accumulating evidence has suggested that the ataxia telangiectasia group D complementing (ATDC) gene is an emerging cancer-related gene in multiple human cancer types.
|
31168819 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene.
|
30339652 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia telangiectasia (AT) is a genetic disease caused by mutations in the ATM gene but the mechanisms underlying AT are not completely understood.
|
30670828 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of ATM/Tel1 are associated with ataxia telangiectasia syndrome.
|
31097817 |
2019 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings identify ATM as a guardian of mitochondrial output, as well as genomic integrity, and suggest that alternative fuel sources may ameliorate A-T disease symptoms.
|
30642892 |
2019 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder that causes deficiency or dysfunction of the ataxia-telangiectasia mutated (ATM) protein.
|
31443742 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder caused by a mutation in the ATM gene.
|
30854690 |
2019 |
Ataxia Telangiectasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
|
30482293 |
2019 |
Ataxia Telangiectasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activity.
|
30549301 |
2019 |
Ataxia Telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
CHK-2 is activated by the PIP3-kinase-like kinases (PI3KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR), and in metazoan also by DNA-dependent protein kinase catalytic subunit (DNA-PKcs).
|
31413202 |
2019 |