Results 21 to 30 of about 62,984 (216)

A Sclerosis Multiplex és terápiás lehetőségei

, 2022
A dolgozat a Sclerosis Multiplex betegség bemutatásáról, a diagnosztizálásának feltételeiről, illetve a gyógyszeres és nem gyógyszeres kezelési lehetőségeiről szól.gyógyszerésznappalimagyaregységes ...
Mészáros, Eszter
core  

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

Molecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A. Davis, Huiping Liu, William J Gradishar, Carolina Reduzzi, Massimo Cristofanilli, Evi Lianidou   +12 more
wiley   +1 more source

Liquid biopsy‐based diagnostic evaluation of hypermethylated CpG sites for ovarian cancer diagnosis

Molecular Oncology, EarlyView.
This schematic outlines the workflow from biomarker identification to duplex MethyLight assay validation for epithelial ovarian cancer diagnosis using cfDNA‐based liquid biopsy. Initial screening of hypermethylated CpG candidates (cg02957270, cg10061138 cg00480298, COL2A1) was performed in tissue using ARMS‐PCR, COBRA, qPCR and image analysis. Selected
Deepa Bisht, Sameer Gupta, Amrita Chaurasia, Manisha Sachan   +3 more
wiley   +1 more source

Emerging insights into CC and CXC chemokines and their receptors in Mycobacterium tuberculosis infection

FEBS Open Bio, EarlyView.
The dual roles of CC and CXC chemokines in distinguishing active, latent, and subclinical tuberculosis were reviewed, along with an evaluation of their potential as diagnostic biomarkers and therapeutic targets to advance precision medicine in tuberculosis management. The graphical abstract was generated with AI assistance (Gemini 3.0).
Xuying Yin, Dangsheng Xiao, Jiezuan Yang
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Multiplex and multilevel networks

, 2018
Multiplex and Multilayer Networks is a collection of some of the results obtained in the new field of complex networks theory with respect to multilevel, multiplex, and interacting networks. The ever-increasing availability of data in fields ranging from
Garas, Antonios, Battiston, Stefano, Garas, A., Caldarelli, Guido   +3 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Near‐Infrared Light‐Driven Zn/Au Janus Micromotors for Multiplex SERS Detection of Anticancer Drugs

Advanced Functional Materials, EarlyView.
Zn/Au Janus micromotors, propelled by thermophoretic effects under NIR light, function as active SERS platforms for single and multiplex detection of anticancer drugs. Their dynamic motion enhances analyte exchange at the Au interface, reducing saturation and competitive adsorption, thereby improving sensitivity and extending the linear detection range.
Tijana Maric, Gohar Soufi, Ziqiao Li, Erick Chica, Amran Abdirasheed Ali Jinow, Nada Al‐Roubaï, Noor Ahmed, Yaman Göksel, Anja Boisen   +8 more
wiley   +1 more source