Results 101 to 110 of about 39,769 (244)

Ryanodine‐1‐Calstabin Complex Stabilizers in Antidoping Research: Synthesis, Metabolism, and Characterization

open access: yesChemPlusChem, Volume 91, Issue 1, January 2026.
RYR‐stabilizers such as S107, JTV‐519, ARM 036, and ARM 210 are emerging doping‐relevant compounds due to their performance‐enhancing effects on leaky skeletal muscle Ca2+ channels. To support proactive antidoping efforts, all four compounds were synthesized and their in vitro metabolism was systematically investigated.
Tristan Möller   +2 more
wiley   +1 more source

Biomarkers for Duchenne muscular dystrophy progression: impact of age in the mdx tongue spared muscle [PDF]

open access: green, 2023
Marcelo dos Santos Voltani Lorena   +6 more
openalex   +1 more source

Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Shaolian Zang   +4 more
wiley   +1 more source

Reviewer #1 (Public Review): Development and validation of a high throughput screening platform to enable target identification in skeletal muscle cells from Duchenne Muscular Dystrophy (DMD) patients [PDF]

open access: gold, 2023
Santosh Hariharan   +12 more
openalex   +1 more source

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang   +6 more
wiley   +1 more source

Respiratory Muscle Strength and Cough Capacity in Patients with Duchenne Muscular Dystrophy [PDF]

open access: gold, 2006
Seong‐Woong Kang   +4 more
openalex   +1 more source

Protein Target Highlights in CASP16: Insights From the Structure Providers

open access: yesProteins: Structure, Function, and Bioinformatics, Volume 94, Issue 1, Page 25-50, January 2026.
ABSTRACT This article presents an in‐depth analysis of selected CASP16 targets, with a focus on their biological and functional significance. The authors highlight the most relevant features of the target proteins and discuss how well these were reproduced in the submitted predictions.
Leila T. Alexander   +34 more
wiley   +1 more source

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