Results 111 to 120 of about 1,665,599 (197)

Ataxia telangiectasia: what the neurologist needs to know.

open access: yes, 2020
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications.

core   +2 more sources

Resolution and Quantitation of Ribonucleosides and Deoxyribonucleosides in Digested Genomic DNA by UHPLC–MS/MS

open access: yesBiomedical Chromatography, Volume 40, Issue 10, October 2026.
ABSTRACT Deoxyuridine (dUrd) is often misincorporated into genomic DNA in cancer patients receiving antimetabolite chemotherapy. This activates base excision repair and recruits ataxia telangiectasia‐mutated and Rad3‐related (ATR), which coordinates DNA repair with nucleotide metabolism by facilitating ribonucleotide reductase (RNR) activity ...
Joshua J. Deppas   +5 more
wiley   +1 more source

Endoplasmic Reticulum Stress and Unfolded Protein Response in Atm-Deficient Thymocytes and Thymic Lymphoma Cells Are Attributable to Oxidative Stress

open access: yesNeoplasia: An International Journal for Oncology Research, 2008
Both oxidative stress and endoplasmic reticulum (ER) stress have been implicated in carcinogenesis. It is well documented that cells deficient in the ataxia-telangiectasia mutated (ATM) gene undergo oxidative stress, which is critically involved in ...
Mingshan Yan   +6 more
doaj   +1 more source

Oocyte–cumulus cell interaction: a key factor in early embryo development

open access: yesBiological Reviews, Volume 101, Issue 5, Page 2265-2278, October 2026.
ABSTRACT The evaluation of oocyte competence is a fundamental step in achieving successful outcomes following assisted reproduction techniques (ART). At present, however, conventional oocyte maturation assessment is carried out by morphological observation, which is a subjective method that does not consider molecular features.
Marc Torres‐Garrido   +2 more
wiley   +1 more source

SIRT1 in Neurodegenerative Diseases: Molecular Mechanisms, Disease Relevance, and Therapeutic Potential

open access: yesThe FASEB Journal, Volume 40, Issue 17, 15 September 2026.
SIRT1, an NAD+‐dependent deacetylase, supports cognitive resilience by coordinating neuroprotection, synaptic plasticity, autophagy–lysosomal proteostasis, and mitochondrial energy homeostasis. Reduced or dysregulated SIRT1 is associated with protein aggregation, neuroinflammation, mitochondrial dysfunction, synaptic loss, and cognitive decline in ...
Jiabin Duan   +6 more
wiley   +1 more source

Thyroid hormones derivatives reduce proliferation and induce cell death and DNA damage in ovarian cancer

open access: yesScientific Reports, 2017
Ovarian cancer is a highly aggressive disease and novel treatments are required. Thyroid hormones binding to αvβ3 integrin produced growth-promoting activities in ovarian cancer and we hypothesized that natural thyroid hormone derivatives may antagonize ...
Elena Shinderman-Maman   +7 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

open access: yesPediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo   +5 more
wiley   +1 more source

Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling

open access: yes, 2017
Ataxia-telangiectasia mutated kinase (ATM) is a serine/threonine kinase. Mutations in the ATM gene cause a rare autosomal multisystemic disease known as Ataxia-telangiectasia (AT).
Singh, Mahipal   +2 more
core   +1 more source

Dual role of Nbs1 in the ataxia telangiectasia mutated-dependent DNA damage response

open access: yes, 2006
The Nbs1 protein associates with Mre11 and Rad50 proteins to form the Mre11-Rad50-Nbs1 complex, which plays an important role in the intracellular signaling pathway activated in response to DNA damage.
Lee, Joo-Hyeon, Lim, Dae-Sik
core   +1 more source

Mutation at Intronic Repeats of the Ataxia-Telangiectasia Mutated (ATM) Gene and ATM Protein Loss in Primary Gastric Cancer with Microsatellite Instability

open access: yesPLoS ONE, 2013
Ataxia-telangiectasia mutated (ATM) is a Ser/Thr protein kinase that plays a critical role in DNA damage-induced signaling and initiation of cell cycle checkpoint signaling in response to DNA-damaging agents such as ionizing radiation. We have previously reported the ATM protein loss by immunohistochemistry (IHC) in 16% of human gastric cancer (GC ...
Hee Sung Kim   +4 more
openaire   +4 more sources

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