Results 131 to 140 of about 545,233 (335)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Incorporation in vitro of labeled amino acids into bone marrow cell proteins [PDF]

open access: yes, 1950
Nearly all experiments on the incorporation of labeled amino acids into tissue proteins in vitro have been done on tissues whose cell structure has been partially or completely disintegrated, e.g. tissue slices, segments, or homogenates.
Borsook, Henry   +4 more
core  

Entropy-Enthalpy Compensation May Be a Useful Interpretation Tool for Complex Systems Like Protein-DNA Complexes: An Appeal to Experimentalists

open access: yes, 2012
In various chemical systems enthalpy-entropy compensation (EEC) is a well-known rule of behavior, although the physical roots of it are still not completely understood.
B. Nordén, E. B. Starikov, Einstein A.
core   +1 more source

Targeted Inhibition of CD74+ Macrophages by Luteolin via CEBPB/P65 Signaling Ameliorates Osteoarthritis Progression

open access: yesAdvanced Science, EarlyView.
This study identifies CD74⁺ macrophages as key drivers of synovial inflammation in osteoarthritis (OA). The flavonoid luteolin is predicted to inhibit this pathway by blocking Nuclear Factor Kappa‐light‐chain‐enhancer of Activated B cells (NF‐κB) signaling. To enhance delivery, a targeted nanoplatform (MDSPL) is developed.
Rui Peng   +15 more
wiley   +1 more source

Metformin Impairs Breast Cancer Growth through the Inhibition of PRMT6

open access: yesAdvanced Science, EarlyView.
Metformin has a biological activity against breast cancer. However, it is largely unknown about its precise therapeutic targets. Here, histone arginine methyltransferase PRMT6 is identified as a new anti‐cancer target for metformin. Metformin directly binds PRMT6 and inhibits its ability to catalyze histone H3R2 asymmetric dimethylation (H3R2me2a ...
Yinsheng Wu   +9 more
wiley   +1 more source

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets

open access: yesAdvanced Science, EarlyView.
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Huixiao Wu   +20 more
wiley   +1 more source

SV2B Promotes the Progression of TFE3‐Rearranged Renal Cell Carcinoma by Interacting with HERC2 to Impede the Degradation of NF‐κB Subunits

open access: yesAdvanced Science, EarlyView.
TFE3‐rearranged renal cell carcinoma (TFE3‐RCC) lacks clearly defined diagnostic and therapeutic targets. SV2B, a TFE3 target gene, promotes TFE3‐RCC progression by activating the NF‐κB pathway. Targeted inhibition with padsevonil or Withaferin A effectively suppresses tumor progression.
Huayi Feng   +13 more
wiley   +1 more source

Physiological and morphological impact of physical activity and nutritional interventions to offset disuse-induced skeletal muscle atrophy

open access: yesEuropean Journal of Translational Myology
Skeletal muscle tissue acts as a functional unit for physical movements, energy metabolism, thermogenesis, and metabolic homeostasis. In this literature review, the underlying mechanisms of skeletal muscle atrophy and the prevention strategies, including
Irfan Arif   +3 more
doaj   +1 more source

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