Results 71 to 80 of about 21,431 (261)

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Measuring Blood Plasma Glutamine Levels Using a Nanopore‐Based Sensor

Advanced Healthcare Materials, EarlyView.
Glutamine (GLN) is a biomarker useful for predicting toxic ammonia accumulation. Here, we used a biosensor based on the Cytolysin A (ClyA) nanopore coupled with the GLN‐specific protein substrate‐binding domain 2 (SBD2) to demonstrate real‐time measurement of GLN in blood plasma, highlighting the potential for future point‐of‐care applications ...
Sofia B. Relvas, Iris M. Kormelink, Sandra Michel‐Souzy, Florian L. R. Lucas, Nieck J. van der Heide, Hans R. Waterham, Ramon Versteeg, Judith Jans, Loes I. Segerink, Carsten Wloka   +9 more
wiley   +1 more source

BİYOLOJİK DOZİMETRİ VE İLGİLİ GELİŞMELER

Cerrahpaşa Medical Journal, 2014
Background.- It is inevitable to use radiation in many fields of the life at present and in future. In this respect, monitoring of the radiation has a big importance to keep of the harmful effects of radiation for human being and his future.
Münevver COŞKUN, Mahmut COŞKUN
doaj  

Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries

Advanced Science, EarlyView.
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun, Siyu Wei, Junxian Tao, Haiyan Chen, Chi Yan, Jiacheng Wang, Jing Xu, Lian Duan, Yuanbo Zhan, Yuping Zou, Ruilin Li, Linna Yuan, Wei She, Songlin Lu, Ning Wang, Qinduo Ren, Yan Guo, Yuan Xu, Chang Wang, Hongsheng Tian, Chen Zhang, Yu Dong, Guoping Tang, Zhenwei Shang, Yongshuai Jiang, Wenhua Lv, Mingming Zhang, Hongchao Lyu   +27 more
wiley   +1 more source

Metformin (dimethyl-biguanide) induced DNA damage in mammalian cells

Genetics and Molecular Biology, 2012
Metformin (dimethyl-biguanide) is an insulin-sensitizing agent that lowers fasting plasma-insulin concentration, wherefore it's wide use for patients with a variety of insulin-resistant and prediabetic states, including impaired glucose tolerance. During
Rubem R. Amador, João Paulo Figueiró Longo, Zulmira G. Lacava, José G. Dórea, Maria de Fátima M. Almeida Santos   +4 more
doaj  

Mitochondria and Neuromast Tagging With Fluorescent Gallium‐Triapine Analogues: In Cellulo MP FLIM and Zebrafish Live Imaging

Advanced Science, EarlyView.
Fluorescent BODIPY‐conjugated thiosemicarbazone ligands and their Ga(III), In(III), and Fe(III) complexes, inspired by Triapine, are developed as theranostic agents. Multiphoton FLIM and confocal microscopy in cancer cells and zebrafish reveal real‐time uptake, mitochondrial localisation, and whilst spectroscopic assays indicated preserved complex ...
Megan J. Green, Michael W. Jones, Merissa Saleem, Haobo Ge, Melita Tvardauskaite, Julia Dudzic, Fernando Cortezon‐Tamarit, Rory L. Arrowsmith, Charareh Pourzand, Gabriele Kociock‐Kohn, Nicholas H. Rees, Jonathan R. Dilworth, Stephen Faulkner, Stanley W. Botchway, David Gurevich, Sofia I. Pascu   +15 more
wiley   +1 more source

TRAIP Mediates Alcohol‐Induced Liver Injury through Regulating β‐catenin Ubiquitin Degradation via Direct Interaction

Advanced Science, EarlyView.
This study reveals that NF‐κB1‐driven TRAIP upregulation in ALD correlates with disease severity. Mechanistically, TRAIP directly binds β‐catenin via its CC domain and promotes its K48‐linked ubiquitination and degradation, which is independent of the GSK3β/β‐TrCP pathway.
Zhan Wu, Mingjiang Liu, Lijuan Liao, Zhaohong Mo, Wenli Xu, Linfeng Mao, Yubing Chen, Qiuli Xie, Ming Yao, Shilian Chen, Stephen Tomlinson, Sebastian Mueller, Songqing He, Guandou Yuan   +13 more
wiley   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source