Results 101 to 110 of about 82,343 (351)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Nucleotide excision repair in chronic neurodegenerative diseases

DNA Repair, 2013
Impaired DNA repair involving the nucleotide excision repair (NER)/transcription-coupled repair (TCR) pathway cause human pathologies associated with severe neurological symptoms. These clinical observations suggest that defective NER/TCR might also play a critical role in chronic neurodegenerative disorders (ND), such as Alzheimer's and Parkinson's ...
César Payán-Gómez, César Payán-Gómez, Chiara Milanese, Jan H.J. Hoeijmakers, Pier G. Mastroberardino, Sara Sepe   +5 more
openaire   +3 more sources

Cognitive Resilience in Apolipoprotein ε4 Carrier Women Predicted by Neuron‐Derived Extracellular Vesicles

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos, Maja Mustapic, Carlos Nogueras‐Ortiz, Francheska Delgado‐Peraza, Krishna A. Pucha, Pamela J. Yao, Joseph Blommer, Michael P. Vreones, William York, De' Larrian Knight, Stephen R. Rapp, Aladdin H. Shadyab, JoAnn E. Manson, Ramon Casanova, Robert B. Wallace, Luigi Ferrucci, Susan M. Resnick, Dimitrios Kapogiannis   +17 more
wiley   +1 more source

ERCC1 and XRCC1 as biomarkers for lung and head and neck cancer

Pharmacogenomics and Personalized Medicine, 2011
Alec Vaezi1,2, Chelsea H Feldman2, Laura J Niedernhofer2,31Department of Otolaryngology and Head and Neck Surgery, University of Pittsburgh School of Medicine, 2University of Pittsburgh Cancer Institute, 3Department of Microbiology and Molecular Genetics,
Vaezi A, Feldman CH, Niedernhofer LJ
doaj  

Chemical Incorporation of Chain-Terminating Nucleoside Analogs as 3′-Blocking DNA Damage and Their Removal by Human ERCC1-XPF Endonuclease

Molecules, 2016
Nucleoside/nucleotide analogs that lack the 3′-hydroxy group are widely utilized for HIV therapy. These chain-terminating nucleoside analogs (CTNAs) block DNA synthesis after their incorporation into growing DNA, leading to the antiviral effects. However,
Junpei Yamamoto, Chiaki Takahata, Isao Kuraoka, Kouji Hirota, Shigenori Iwai   +4 more
doaj   +1 more source

Targeting RAGE with Nanobodies for Molecular Imaging of Cancers and Alzheimer's Disease

Advanced Biology, EarlyView.
RAGE‐specific nanobodies were isolated via phage display and characterized by ELISA, cell ELISA, and SPR. In vivo imaging in renal carcinoma and Alzheimer's disease mouse models demonstrated that NbF8, the highest‐affinity clone, selectively targeted RAGE‐overexpressing tumors and brain tissues, highlighting its potential as a molecular imaging agent ...
Guangfeng Liang, Fujing Wang, Wei Xiong, Guangwei Shi, Junling Yuan, Yang Li, Hongyan Zhang, Yanmei Xing, Shan Jin, Kongjun Yang, Zhongliang Dai, Jichao Sun, Zhijie Li, Jianhong Wang   +13 more
wiley   +1 more source

DNA Repair Synthesis and Ligation Affect the Processing of Excised Oligonucleotides Generated by Human Nucleotide Excision Repair*

Journal of Biological Chemistry, 2014
Background: The mechanism of excised oligonucleotide processing during nucleotide excision repair is unknown. Results: UV photoproduct-containing oligonucleotides associate with chromatin following the dual incisions. Inhibition of gap-filling activities
M. Kemp, S. Gaddameedhi, Jun-Hyuk Choi, Jinchuan Hu, A. Sancar   +4 more
semanticscholar   +1 more source

RhoA and Rac1 as Mechanotransduction Mediators in Colorectal Cancer

Advanced Biology, EarlyView.
Analysing RhoA and Rac1 protein levels in Colorectal cancer (CRC) samples under mechanical strain highlights their potential as diagnostic markers. Monitoring their activity could offer valuable insights into how cancer spreads, paving the way for new approaches to better understand and diagnose colorectal cancer.
Sharda Yadav, Sanjaya KC, Mark A. T. Blaskovich, Cu‐tai Lu, Alfred K Lam, Nam‐Trung Nguyen   +5 more
wiley   +1 more source

Subpathways of nucleotide excision repair and their regulation [PDF]

Oncogene, 2002
Nucleotide excision repair provides an important cellular defense against a large variety of structurally unrelated DNA alterations. Most of these alterations, if unrepaired, may contribute to mutagenesis, oncogenesis, and developmental abnormalities, as well as cellular lethality. There are two subpathways of nucleotide excision repair; global genomic
openaire   +3 more sources

LIN28B Promotes Cancer Cell Dissemination and Angiogenesis

Advanced Biology, EarlyView.
Children diagnosed with high‐risk neuroblastoma have a 5‐year event‐free survival rate of less than 50% and poor outcomes after recurrence. Deregulation of the LIN28B oncogene can be addressed in these patients. Upregulation of LIN28B is shown to support the metastatic cascade.
Diana Corallo, Sara Menegazzo, Marcella Pantile, Silvia Bresolin, Carlo Zanon, Alessandro Davini, Massimiliano Mazzone, Alessandra Biffi, Sanja Aveic   +8 more
wiley   +1 more source