Results 111 to 120 of about 1,665,599 (197)
Ataxia telangiectasia: what the neurologist needs to know.
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
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
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
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, 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
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
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
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
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
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

