Results 71 to 80 of about 779,741 (324)

Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]

, 2011
Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core   +1 more source

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source

Gaucher Disease Type I: A Case Report

Acta Medica Bulgarica, 2020
Gaucher disease (GD) is a multi-systemic disease with a low population frequency. It is a lysosomal storage disorder (LSD) that causes accumulation of glucocerebroside in the so called Gaucher cells predominantly in areas like the spleen, liver and bone ...
Nikolova D., Yordanov A., Damyanova V., Yavorova A., Radinov A.   +4 more
doaj   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

The thioredoxin‐like and one glutaredoxin domain are required to rescue the iron‐starvation phenotype of HeLa GLRX3 knock out cells

FEBS Letters, EarlyView.
Glutaredoxin (Grx) 3 proteins contain a thioredoxin domain and one to three class II Grx domains. These proteins play a crucial role in iron homeostasis in eukaryotic cells. In human Grx3, at least one of the two Grx domains, together with the thioredoxin domain, is essential for its function in iron metabolism.
Laura Magdalena Jordt, Manuela Gellert, Finja Zelms, Sander Bekeschus, Christopher Horst Lillig   +4 more
wiley   +1 more source

Drug metabolizing enzyme activities versus genetic variances for drug of clinical pharmacogenomic relevance

Clinical Proteomics, 2011
Enzymes are critically important in the transportation, metabolism, and clearance of most therapeutic drugs used in clinical practice today. Many of these enzymes have significant genetic polymorphisms that affect the enzyme's rate kinetics.
Wu Alan HB
doaj   +1 more source

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, EarlyView.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

Circulating histones as clinical biomarkers in critically ill conditions

FEBS Letters, EarlyView.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez, Juan Carlos Ruiz‐Rodríguez, Ricard Ferrer, Raquel Durá, Antonio Artigas, Iván Bajaña, David Bolado López de Andujar, Irene Cánovas‐Cervera, Adrián Ceccato, Luis Chiscano‐Camón, Elena Climent‐Martinez, Georgia García Fernández, Gemma Goma, Verónica Monforte, Beatriz Quevedo‐Sánchez, Adolf Ruiz‐Sanmartín, Antonio Sierra‐Rivera, Nieves Carbonell Monleón   +17 more
wiley   +1 more source

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

FEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää, Ahmed B. Montaser, Henri Leinonen   +2 more
wiley   +1 more source

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

FEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu, Huseyn Babayev, Ismail Ogulur, Sena Ardicli, Yagiz Pat, Duygu Yazici, Bingjie Zhao, Lihong Chang, Xiaoqing Liu, Paolo D'Avino, Manru Li, Ceren Biçer, Fatma Hacer Kurtoğlu Babayev, Raja Dhir, Kari C. Nadeau, Marie‐Charlotte Brüggen, Mubeccel Akdis, Cezmi A. Akdis   +17 more
wiley   +1 more source