Results 211 to 220 of about 70,628 (338)

Molecular mechanisms of hotspot variants in cytoskeletal β‐actin associated with Baraitser–Winter syndrome

open access: yesThe FEBS Journal, EarlyView.
Variants at position R196 in cytoskeletal β‐actin are the most common variants associated with Baraitser–Winter cerebrofrontofacial syndrome and result in craniofacial anomalies and neurodevelopmental disorders, most likely due to neuronal migration defects. This study explores the molecular mechanisms of p.R196 variants using purified proteins.
Johannes N. Greve, Dietmar J. Manstein
wiley   +1 more source

Endogenous Plant signals and human Health: Molecular mechanisms, ecological functions, and therapeutic Prospects. [PDF]

open access: yesBiochem Biophys Rep
Alum EU   +6 more
europepmc   +1 more source

Insulin facilitates entry of calcium ions into human and murine erythrocytes via Piezo1: a newly identified mechanism with implications for type 2 diabetes

open access: yesThe FEBS Journal, EarlyView.
Despite being enucleated, mammalian red blood cells (RBCs) possess complex signaling mechanisms. Here, we show that insulin signals through the mechanosensitive channel Piezo1 to promote influx of calcium ions. This newly identified pathway is disrupted in a murine model of type 2 diabetes and may contribute to driving circulatory deficits in prevalent
Lennart Kuck   +9 more
wiley   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

open access: yesThe FEBS Journal, EarlyView.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng   +2 more
wiley   +1 more source

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