Results 81 to 90 of about 180,100 (266)
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
The Draft Genome of Extinct European Aurochs and its Implications for De-Extinction
Open Quaternary, 2016 Whether as a cave painting, a mounted skeleton in a museum, or as described in ancient texts, the extinct aurochs has long mesmerized humans. In the context of genetics, aurochs have been targeted since the early days of the establishment of ancient DNA ...
Mikkel-Holger S. Sinding +1 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Correction: The Draft Genome of Extinct European Aurochs and its Implications for De-Extinction
Open Quaternary, 2017 This article details a correction to the article: Sinding, M-H.S. & Gilbert, M.T.P. 2016 The Draft Genome of Extinct European Aurochs and its Implications for De-Extinction. 'Open Quaternary'.
Mikkel-Holger S. Sinding +1 more
doaj +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Advanced Functional Materials, EarlyView.DNA strands are employed both as dynamic linkers and nanoscale templates for the integration of Ag2S nanoparticles on MoS2, which in turn imparted photothermal responsiveness; this feature permits the selective cargo (fluorophore, quantum dots or an enzyme) release from the MoS2 surface in response to local heat induced by light irradiation.
Kai Chen +3 more
wiley +1 more source
Advanced Functional Materials, EarlyView.A 3D anisotropic hydrogel derived from heart extracellular matrix guides cytoskeletal alignment and nuclear remodeling in reprogrammed cardiomyocyte‐like cells. This study reveals how matrix alignment modulates nuclear envelope dynamics and chromatin state, triggering transcriptional and functional maturation.
Seung Ju Seo +7 more
wiley +1 more source
Chiral Phase Change Nanomaterials
Advanced Functional Materials, EarlyView.This work demonstrates reversible, non‐volatile phase transitions in chiral Ge2${\rm Ge}_2$Sb2${\rm Sb}_2$Te5${\rm Te}_5$ (GST) nanohelices for high‐speed optical modulation of chirality and dynamic control of the state of polarization (SOP). The chiral nanostructures are fabricated using a highly directional, wafer‐scale physical vapor deposition ...
Joshua A. Burrow +11 more
wiley +1 more source
A multi-trait systems approach reveals a response cascade to bleaching in corals
BMC Biology, 2017 Background Climate change causes the breakdown of the symbiotic relationships between reef-building corals and their photosynthetic symbionts (genus Symbiodinium), with thermal anomalies in 2015–2016 triggering the most widespread mass coral bleaching on
Stephanie G. Gardner +7 more
doaj +1 more source
Advanced Functional Materials, EarlyView.Sulfur fluoride exchange (SuFEx) is a powerful click platform, yet water‐compatible multifunctional linchpins remain elusive. Here, we report decagram‐scalable diazonium linchpins that enable rapid Pd‐catalyzed diversification and direct, catalyst‐free on‐DNA ligation in aqueous media.
Seok Ju Hong +5 more
wiley +1 more source