Results 141 to 150 of about 99,285 (246)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Long-Read, High-Resolution Sanger Sequencing by Micelle-Tagging Electrophoresis. [PDF]

Electrophoresis
Gamble R, Wenz HM, Mullah B, Schneider JW.   +3 more
europepmc   +1 more source

A Case Report of a Special Type of Multiple Myeloma: Kappa Light Chain‐Only

Organ Medicine, EarlyView.
This case illustrates the clinical course of a patient diagnosed with kappa light chain‐only multiple myeloma, a rare subtype of multiple myeloma. Of note, light chain multiple myeloma is characterized by rapid disease progression and severe target organ damage.
Yanhua Dai, Yuanyue Guan, Shiwei Cui, Yuan Gao, Zhipeng Zhao, Rui Li, Li Song, Xiuying Zhao, Runqing Li   +8 more
wiley   +1 more source

The Analytical Performance and Inter-laboratory Standardization of Next-Generation Sequencing (NGS) Panels for Genetic Risk Stratification in Acute Myeloid Leukemia: A Systematic Review and Meta-Analysis. [PDF]

Cureus
Alqurain A, Mashat LF, Alshammari NM, Al-Sumaily HA, Alamer AM, Aldhmadi RS, Albalawi MD, Alghamdi NS, Metwaly AS.   +8 more
europepmc   +1 more source

Nigericin‐Triggered Phosphodynamics in Inflammasome Formation and Pyroptosis

PROTEOMICS, EarlyView.
ABSTRACT Innate immune signaling relies heavily on phosphorylation cascades to mount effective immune responses. Although traditional innate immune signaling cascades following TLR4 stimulation have been investigated through a temporally quantitative phosphoproteomic lens, far fewer studies have applied these methods to distinct signaling following the
Vanya Bhushan, Clinton J. Bradfield, Sandhini Saha, Sung Hwan Yoon, Iain D. C. Fraser, Aleksandra Nita‐Lazar   +5 more
wiley   +1 more source

Isothermal nucleic acid amplification techniques: A comprehensive overview on their principle & applications as alternative to PCR. [PDF]

Pract Lab Med
Amare Amdiyee A, Sisay Tessema T.
europepmc   +1 more source

Practical Impact of Imputation and Batch‐Effect Correction for Proteomics/Peptidomics Differential‐Abundance Analysis

PROTEOMICS, EarlyView.
ABSTRACT MS‐based proteomics offers powerful opportunities for biomarker discovery; nevertheless, it is associated with technical challenges, including missing values and batch effects. Although imputation and batch‐correction methods are well established in proteomics, their impact remains incompletely characterized in large‐scale clinical proteomics ...
Charis Gonidaki, Agnieszka Latosinska, Antonia Vlahou, Rafael Stroggilos, Harald Mischak   +4 more
wiley   +1 more source

Development of a Green Capillary Electrophoresis Method for Determining and Quality Control of Dapagliflozin: An Oral Hypoglycemic Agent. [PDF]

Electrophoresis
Bueno LM, Rocha MO, Mohr A, Fernandes AN, Steppe M.   +4 more
europepmc   +1 more source

The N‐Glycome to Differentiate Mesenchymal Stem Cells Upon Chondrogenic Differentiation, Dedifferentiation, and Senescence

PROTEOMICS, EarlyView.
ABSTRACT Mesenchymal stem cells (MSCs) are adult stem cells able to self‐renewal or differentiation into different cell types, including chondrocytes. N‐Glycans are post‐translational modifications of glycoproteins that contribute to vital cell functions.
Houda Montacir, Karina Biskup, Michael Sittinger, Rudolf Tauber, Véronique Blanchard   +4 more
wiley   +1 more source

Lecanemab alters basement membrane collagen IV in viable microvessels isolated from brains with high Alzheimer's disease neuropathology. [PDF]

J Alzheimers Dis
Damodarasamy M, Hernandez GJ, Johnson RS, Keene CD, Latimer CS, MacCoss MJ, Banks WA, Erickson MA, Reed MJ.   +8 more
europepmc   +1 more source