Results 41 to 50 of about 20,159 (186)

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

Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration

Translational Psychiatry, 2022
Impaired proteostasis is associated with normal aging and is accelerated in neurodegeneration. This impairment may lead to the accumulation of protein, which can be toxic to cells and tissue.
Sidhartha Mahali, Rita Martinez, Melvin King, Anthony Verbeck, Oscar Harari, Bruno A. Benitez, Kanta Horie, Chihiro Sato, Sally Temple, Celeste M. Karch   +9 more
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

Maximum a posteriori Threshold Genomic Prediction Model for Ordinal Traits

G3: Genes, Genomes, Genetics, 2020
Due to the ever-increasing data collected in genomic breeding programs, there is a need for genomic prediction models that can deal better with big data.
Abelardo Montesinos-López, Humberto Gutierrez-Pulido, Osval Antonio Montesinos-López, José Crossa   +3 more
doaj   +1 more source

Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease [PDF]

, 2004
The MAPT H1 haplotype has been associated with four-repeat (4R) tauopathies, including progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease.
Aasly, Jan, Wilkes, Kristen, Baker, Matthew, Hulihan, Mary, Hutton, Mike, Lincoln, Sarah, Skipper, Lisa, Farrer, Matthew, Toft, Mathias, Ross, Owen A.   +9 more
core   +1 more source

Orthogonal Ionic Liquid‐Based Extraction Strategy Enables Amyloid‐Specific Profiling of Aggregate Proteome

Advanced Science, EarlyView.
An orthogonal ionic‐liquid extraction (Orth‐iEA) enables selective isolation of amyloid fibrils. TMGBF4 disrupts hydrogen‐bonded β‐sheet networks to solubilize amyloid aggregates, whereas C12ImCl interacts with hydrophobic regions of non‐amyloid proteins.
Shiying Zheng, Ye Liu, Bowen Zhong, Huiying Chu, Zhou Gong, Baofeng Zhao, Mengchun Cheng, Zhen Liang, Yukui Zhang, Qun Zhao, Lihua Zhang   +10 more
wiley   +1 more source

Implicación de los genes MAPT y PGRN en la degeneración lobar frontotemporal: mecanismos patgénicos y expresión fenotípica. [PDF]

, 2008
[spa] Este trabajo se centra en el estudio de la implicación de los genes MAPT y PGRN en la degeneración lobar frontotemporal (DLFT). Se describen 2 nuevas mutaciones en estos genes (P301T en el gen MAPT y la A303AfsX57 en el gen PGRN) y no se ...
Lladó Plarrumaní, Albert
core  

Clinical subtypes in Parkinson's disease: the impact of MAPT haplotypes [PDF]

, 2014
The H1 haplotype of the MAPT gene influences the risk of PD and has been related to the development of PDD. We evaluated the influence of MAPT haplotypes on the expression of motor features in PD patients. We genotyped, for the MAPT haplotypes H1 and H2,
PASSARELLI, Francesca, Emanuela Passarelli, PASCALE, ESTERINA, PURCARO, CARLO, MECO, Giuseppe, VANACORE, NICOLA, GUGLIELMI, Renzo, Maria Elena Di Battista   +7 more
core   +1 more source

Further validation of the association between MAPT haplotype-tagging polymorphisms and Alzheimer’s disease: neuropsychological tests, cerebrospinal fluid biomarkers, and APOE genotype

Frontiers in Molecular Neuroscience
IntroductionGenetic studies have shown that variants in the microtubule-associated protein tau (MAPT) gene, which encodes tau protein, can increase the risk for Alzheimer’s disease (AD).
Mirjana Babić Leko, Ena Španić Popovački, Nanet Willumsen, Matea Nikolac Perković, Nikolina Pleić, Klara Zubčić, Lea Langer Horvat, Željka Vogrinc, Marina Boban, Marina Boban, Fran Borovečki, Fran Borovečki, Fran Borovečki, Tatijana Zemunik, Tatijana Zemunik, Rohan de Silva, Goran Šimić   +16 more
doaj   +1 more source

A Phase‐Resolved Geometric Deep Learning Framework Maps Structural Determinants of Disease‐Associated Protein Aggregation and Guides Suppressor Design

Advanced Science, EarlyView.
SKALE 2.0 maps disease‐associated protein aggregation as a phase‐resolved structural process, linking mutation‐induced geometric perturbations to nucleation, elongation, and suppressor design. Across neurodegenerative proteins, the framework reveals cryptic aggregation vulnerabilities, separates phase‐concordant and phase‐switching mutations, and ...
Jia Shen Sio, Wei Xuan Wilson Loo, Yan Shan Loo, Wen Xin Tan, Hui Xuan Lim, Huitao Liu, Chen Seng Ng   +6 more
wiley   +1 more source