Results 141 to 150 of about 106,654 (267)

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ   +8 more
wiley   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang   +8 more
wiley   +1 more source

Registration of three near‐isogenic soybean lines carrying the Rcs3 allele for frogeye leaf spot resistance

open access: yesJournal of Plant Registrations, Volume 20, Issue 2, May/August 2026.
Abstract Soybean [Glycine max (L.) Merr.] yield can be reduced by 30% or more when infected with frogeye leaf spot (FLS), a fungal disease caused by Cercospora sojina K. Hara. The Rcs3 quantitative trait locus (QTL) provides strong resistance to all races of C. sojina reported in the United States and Brazil.
Samuel C. McDonald   +6 more
wiley   +1 more source

DNA Flap‐Mediated Control of Transcription for Programmable RNA Synthesis

open access: yesAngewandte Chemie, Volume 138, Issue 18, 27 April 2026.
Pyrimidine‐rich ssDNA flaps on the T7 promoter inhibit T7 RNA polymerase (T7RP) transcription. Leveraging this pyrimidine bias, we developed DNAzyme‐ and MNAzyme‐mediated flap promoter induced transcription control (D‐FIT and M‐FIT) systems. These platforms enable regulated transcription and sequence‐specific detection, highlighting the programmable ...
Eun Sung Lee   +5 more
wiley   +2 more sources

Development and application of KASP assays to differentiate between Sorghum bicolor, halepense, and their hybrids

open access: yesPest Management Science, Volume 82, Issue 5, Page 5063-5072, May 2026.
A panel showing the morphological differences between Sorghum halepense (A), hybrids (B), and Sorghum bicolor (C) with a novel KASP‐based genetic assay capable of reliably distinguishing between them. Partially Created in BioRender. https://BioRender.com/1u30ukv Abstract BACKGROUND Sorghum bicolor and Sorghum halepense can readily hybridize, creating ...
Connor Purvis   +2 more
wiley   +1 more source

Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders

open access: yesAnnals of Human Genetics, Volume 90, Issue 3, Page 202-214, May 2026.
ABSTRACT Background and Aims Sherpa highlanders exhibit remarkable tolerance to hypoxia, most likely due to genetic adaptations shaped by natural selection at high altitude. This study examined the roles of endothelial PAS domain protein 1 (EPAS1) and egl‐9 family hypoxia‐inducible factor 1 (EGLN1) in the genetic mechanisms underlying this adaptation ...
Yunden Droma   +5 more
wiley   +1 more source

Dissipatively Fueled Unidirectionally Communicating DNA Circuits That Control Biocatalysis

open access: yesAngewandte Chemie, Volume 138, Issue 17, 20 April 2026.
Unidirectionally communicating, out‐of‐equilibrium DNA circuits are used to control enzyme activity. Transient DNAzyme activation generates fuel for temporal trypsin activation. Cyclic fuel‐driven hybridization and exonuclease‐mediated reset enable precise control over lifetimes, which is analyzed using combined experimental and computational ...
Philippe Jung   +6 more
wiley   +2 more sources

Guanine base modifications in antisense oligonucleotides mitigate acute central nervous system toxicity. [PDF]

open access: yesRSC Chem Biol
Katsuyama M   +9 more
europepmc   +1 more source

Anti‐inflammatory effects of physical stimuli: The central role of networks in shaping the future of pharmacological research

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 10, Page 2177-2196, May 2026.
Addressing complexity in the study of life sciences through Systems Biology and Systems Medicine has been transformative, making Systems Pharmacology the next logical step. In this review, we focus on physical stimuli, whose potential in pharmacology has been neglected, despite demonstrated therapeutic properties.
Veronica Paparozzi   +10 more
wiley   +1 more source

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