Results 51 to 60 of about 1,665,599 (197)

Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations

, 2021
Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this ...
Ernst J. Wolvetang, Hunter, Zoe, Martin F. Lavin, Hannah C. Leeson, Wolvetang, Ernst J, Alan Mackay-Sim, Leeson, Hannah C, Harman Kaur Chaggar, Chaggar, Harman Kaur, Mackay-Sim, Alan, Zoe Hunter, Lavin, Martin F   +11 more
core   +1 more source

Mismatch repair proteins play a role in ATR activation upon temozolomide treatment in MGMT-methylated glioblastoma

Scientific Reports, 2022
The methylation status of the O6-methylguanine methyltransferase (MGMT) gene promoter has been widely accepted as a prognostic biomarker for treatment with the alkylator, temozolomide (TMZ). In the absence of promoter methylation, the MGMT enzyme removes
Sachita Ganesa, Amrita Sule, Ranjini K. Sundaram, Ranjit S. Bindra   +3 more
doaj   +1 more source

Identification of an ataxia telangiectasia-mutated protein mediated surveillance system to regulate Bcl-2 overexpression [PDF]

Oncogene, 2006
Bcl-2 can both promote and attenuate tumorigenesis. Although the former function is relatively well characterized, the mechanism of the latter remains elusive. We report here that enforced Bcl-2 expression in MCF7 cells stabilizes p53, induces phosphorylation of p53 serine 15 (p53pSer15) and inhibits MCF7 cell growth.
J, Zhang, J M, Lahti, A, Bruce, L, He, K, Parihar, C, Fan, J, Grenet, L, Liu, V J, Kidd, S, Cormier, D, Tang   +10 more
openaire   +2 more sources

Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining

Molecular Oncology, EarlyView.
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis, Jack V. Mills, Wojciech Niedzwiedz, Valentine M. Macaulay   +3 more
wiley   +1 more source

Cancer‐associated mutations in endometriosis reframe a benign disease through molecular oncology

Molecular Oncology, EarlyView.
This review aims to comprehensively analyse cancer‐associated somatic mutations (CAMs) present in endometriotic lesions, emphasizing their biological roles, spatial distribution and implications for translational applications in medicine. By contextualizing a benign state within a genomic framework, this analysis seeks to establish its value as a ...
Clarissa Mujacic, Maria Concetta Vitale, Rita Siino, Emilia Di Giovanni, Carla Ferrante Bannera, Enrico Di Marco, Andrea Gottardo, Tancredi Didier Bazan Russo, Nadia Barraco, Alessandro Perez, Valerio Gristina, Antonio Galvano, Giuseppe Badalamenti, Antonio Russo, Viviana Bazan, Lorena Incorvaia   +15 more
wiley   +1 more source

Targeting the DNA damage response in cancer

MedComm
DNA damage response (DDR) pathway is the coordinated cellular network dealing with the identification, signaling, and repair of DNA damage. It tightly regulates cell cycle progression and promotes DNA repair to minimize DNA damage to daughter cells.
Guffanti Federica, Chiappa Michela, Damia Giovanna   +2 more
doaj   +1 more source

Homeodomain Proteins Directly Regulate ATM Kinase Activity

Cell Reports, 2018
Summary: Ataxia-telangiectasia mutated (ATM) is a serine/threonine kinase that coordinates the response to DNA double-strand breaks and oxidative stress.
Tanya E. Johnson, Ji-Hoon Lee, Logan R. Myler, Yi Zhou, Trenell J. Mosley, Soo-Hyun Yang, Nadima Uprety, Jonghwan Kim, Tanya T. Paull   +8 more
doaj   +1 more source

Adipose-Derived Mesenchymal Stem Cells Inhibit JNK-Mediated Mitochondrial Retrograde Pathway to Alleviate Acetaminophen-Induced Liver Injury

Antioxidants, 2023
Acetaminophen (APAP) is the major cause of drug-induced liver injury, with limited treatment options. APAP overdose invokes excessive oxidative stress that triggers mitochondria-to-nucleus retrograde pathways, contributing to APAP-induced liver injury ...
Yelei Cen, Guohua Lou, Jinjin Qi, Minwei Li, Min Zheng, Yanning Liu   +5 more
doaj   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia

Clinical and Experimental Immunology, 2001
Summary Three ataxia telangiectasia (AT) patients have been characterized immunologically and molecularly. Patient 1 presents two nondescribed splicing mutations which affect exons 15 and 21 of the ATM gene. The maternal defect consists of a G > A transition in the first nucleotide of the intron 21 donor splicing site which ...
García Pérez, Miguel Ángel, Allende Martínez, Luis Miguel, Corell, A., Varela, P., Moreno, A. A., Sotoca, Andrés, Moreno, Ángel, Paz Artal, Estela Natividad, Barreiro, E., Arnaiz Villena, Antonio   +9 more
openaire   +4 more sources