Results 241 to 250 of about 265,912 (308)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α

Animal Models and Experimental Medicine, EarlyView.
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang, Jinming Zhang, Siyuan Song, Mingyang Li, Liying Sun, Zhijun Zhu, Dongdong Lin   +6 more
wiley   +1 more source

Citrus aurantium honey‐mediated gut homeostasis and anti‐inflammation via Thorl/Nprl2‐TORC1 signaling: Network pharmacology and Drosophila validation

Animal Models and Experimental Medicine, EarlyView.
The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan, Ruiguang Huang, Shuqiong Cao, Luxia Pan, Wenkai Zhang, Wujun Jiang, Zhiyong Liu   +6 more
wiley   +1 more source

AND‐Logic‐Gated Aptamer Switch for Precise Targeting and Regulation of RNA G‐Quadruplexes

Angewandte Chemie, EarlyView.
An AND‐logic‐gated aptamer switch enables tumor‐selective activation of RNA G‐quadruplex (rG4)‐targeting function. By combining cell‐surface recognition and intracellular redox sensing, the system achieves precise regulation of disease‐relevant RNA structures exclusively in tumor cells, with minimal off‐target effects in normal cells, offering a ...
Dan Wang, Ying Feng, Chun Kit Kwok
wiley   +2 more sources

Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding, Dylan Hamitouche, Simon Thebault, Patrick Kearns, Ahmed Abdelhak, Adil Harroud   +5 more
wiley   +1 more source

Cold Gas Plasma Induces Platelet Activation and Hemostasis in Native and Anticoagulated Human Blood

Advanced NanoBiomed Research, EarlyView.
Cold physical gas plasma induces platelet activation and hemostatic responses in native and anticoagulated human blood. Treatment efficacy depends on plasma parameters, including gas composition, distance, and exposure mode, which govern reactive species delivery and energy transfer.
Sander Bekeschus, Broder Poschkamp, Lea Miebach, Anke Schmidt, Linus Hübner, Julia van der Linde   +5 more
wiley   +1 more source

CSAKD: Determining Absolute Ligand Affinities From 19F NMR Chemical Shift Anisotropy

Angewandte Chemie, EarlyView.
Affinity determination is crucial in drug discovery, yet remains difficult for weakly binding fragments. We introduce chemical shift anisotropy KD$K_{\text{D}}$ (CSAKD) by 19F$^{19}{\rm F}$ NMR relaxation experiments, a titration‐free method that requires no isotopic labeling.
Simon H. Rüdisser, Gabriela Stadler, Alvar D. Gossert   +2 more
wiley   +1 more source

Mapping the ATP-Binding Pockets of FLT3 and TAK1: A Structural Basis for Dual Inhibition by FLT3-Targeted Therapies. [PDF]

ACS Chem Biol
Haystead T, Freeze R, Liu G, Chen J, Hughes P, Scarneo S.   +5 more
europepmc   +1 more source