Results 71 to 80 of about 102,021 (242)
Annals of Neurology, EarlyView.Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano +13 more
wiley +1 more source
Role of G{alpha}12 and G{alpha}13 as Novel Switches for the Activity of Nrf2, a Key Antioxidative Transcription Factor [PDF]
, 2007 G{alpha}12 and G{alpha}13 function as molecular regulators responding to extracellular stimuli. NF-E2-related factor 2 (Nrf2) is involved in a protective adaptive response to oxidative stress.
Cho, Min Kyung +6 more
core +2 more sources
Annals of Neurology, EarlyView.Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl +6 more
wiley +1 more source
Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]
, 2016 Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Micro-RNA family that modulates fibrosis and uses thereof [PDF]
, 2017 The present invention relates to the identification of a microRNA family, designated miR-29a-c, that is a key regulator of fibrosis in cardiac tissue. The inventors show that members of the miR-29 family are down-regulated in the heart tissue in response
Olson, Eric N., van Rooij, Eva
core +1 more source
An Update: Enzymatic Synthesis for Industrial Applications
Angewandte Chemie International Edition, EarlyView.Biocatalysis has become a sustainable and cost‐competitive alternative to established chemical synthesis, enabling the enzyme‐based production of not only commodity chemicals but (non‐natural) amino acids, (rare) sugars, as well as synthetic nucleotides.
Thomas Bayer +4 more
wiley +1 more source
In Vitro Structure-Activity Relationship Stability Study of Antisense Oligonucleotide Therapeutics Using Biological Matrices and Nucleases. [PDF]
Pharmacol Res PerspectABSTRACT The primary degradation pathway for antisense oligonucleotides (ASOs) involves endonuclease and exonuclease‐mediated breakdown. The effect of various chemical modifications on the stability of oligonucleotides has not been systematically investigated.
Lovrić J +7 more
europepmc +2 more sources
Noncoding RNAs in Host–Microbiota Interaction
Animal Research and One Health, EarlyView.The intricate interplay between gut microbiota and the host exerts a profound impact on host biological processes and disease development. This review highlights the pivotal role of noncoding RNAs (ncRNAs) in this interaction. Host ncRNAs regulate gene expression and microbiota composition, whereas microbial small RNAs (sRNAs) modulate host gene ...
Ziyi Zhao +7 more
wiley +1 more source
X‐ray controlled release strategy in cancer therapy
BMEMat, EarlyView.A comprehensive review on the design principles and current strategies of X‐ray stimulated release systems in cancer therapy, focusing on the X‐ray responsive functional groups and materials as well as discussing the advantages and current challenges of X‐ray controlled release systems in cancer therapy.
Yiling Ruan +5 more
wiley +1 more source