Results 131 to 140 of about 197,182 (311)
Growth Standards for Children With Smith–Magenis Syndrome (SMS)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong +10 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang +10 more
wiley +1 more source
A rapamycin-sensitive signaling pathway contributes to long-term synaptic plasticity in the hippocampus [PDF]
, 2002 Many forms of long-lasting behavioral and synaptic plasticity require the synthesis of new proteins. For example, long-term potentiation (LTIP) that endures for more than an hour requires both transcription and translation.
Gingras, Anne-Claude +5 more
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Hydroxycarboxylic Acid Receptor 2 Mediates β‐hydroxybutyrate's Antiseizure Effect in Mice
Annals of Neurology, EarlyView.A Objective The ketogenic diet, a high‐fat, low‐carbohydrate regimen, is often used to treat drug‐resistant seizures and is being studied for Alzheimer's disease and other neuropsychiatric disorders. However, its mechanism of action remains unclear. β‐hydroxybutyrate, a primary circulating ketone body produced by the ketogenic diet, may mediate its ...
Soudabeh Naderi +10 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Carpal tunnel syndrome (CTS) can drastically impair one's ability to work and interferes with activities of daily living. We recently demonstrated that, in rodents, conditioning electrical stimulation (CES) delivered to the nerve 7 days prior to surgery imparts a conditioning lesion‐like effect by accelerating the rate of regeneration along ...
Yusuke Osaki +19 more
wiley +1 more source
Implantable Drug Delivery Systems for Skeletal Muscles and Eyes
Advanced NanoBiomed Research, EarlyView.This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov +8 more
wiley +1 more source
Bioprinted Excitable Tissues with Multistimulation Systems for Promoting Function and Maturation
Advanced NanoBiomed Research, EarlyView.This review provides an overview of stimulation strategies used to enhance the functional maturation of bioprinted excitable tissues. It addresses key limitations in physiological performance of bioprinted excitable tissues, outlines major stimulation modalities—including electrical, mechanical, optical, magnetic, ultrasound, and hybrid—and examines ...
Uijung Yong, Jinseon Park, Jinah Jang
wiley +1 more source
BMEMat, EarlyView.Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen +7 more
wiley +1 more source