Results 21 to 30 of about 1,536 (226)
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
FEBS Open Bio, EarlyView.Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
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
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley +1 more source
Portable Molecularly Imprinted Polymer Sensor for Rapid Swab‐Based Detection of Norovirus
Advanced Healthcare Materials, EarlyView.This work reports a rapid, portable smartphone‐based sensor capable of detecting four norovirus genotypes from swab samples within 15 min. Sensor selectivity was validated through evaluation against four common live viruses. The swab‐based sampling process enabled simple sample preparation combined with the compact detection system, supporting use of ...
Amy Dann +13 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira +8 more
wiley +1 more source
Recent Advances in Ferrite‐Based Materials for Biomedical Applications: A Comprehensive Review
Advanced Materials, EarlyView.Ferrite nanoplatforms are presented as tunable biomedical materials in which synthesis control, cation engineering, defect/morphology regulation, and surface functionalization govern structure–property–bioactivity relationships. These design strategies enable multifunctional applications including MRI contrast, magnetic hyperthermia, targeted drug ...
Pramod D. Mhase +6 more
wiley +1 more source
Advanced Materials, EarlyView.A novel engineering strategy that establishes material design principles for incorporating anti‐inflammatory steroids into lipid nanoparticles to reduce LNP‐induced inflammation while retaining mRNA delivery. Results are validated in vitro and in three animal models of inflammation and autoimmunity in vivo.
Ajay S. Thatte +21 more
wiley +1 more source
KIR Genotyping by Multiplex PCR-SSP [PDF]
, 2009 Diversity across KIR haplotypes stems from differences in numbers of inhibitory and activating receptors, as well as allelic polymorphism of individual genes. The KIR locus has undergone large expansions and contractions over time and is believed to be coevolving with genes encoding its HLA class I ligands located within the MHC locus.
Smita, Kulkarni +2 more
openaire +2 more sources