Results 71 to 80 of about 14,262 (208)
Cell Biology International, Volume 49, Issue 6, Page 674-691, June 2025.ABSTRACT Ovarian cancer (OC) is a deadly disease and lacks a precise marker for diagnosis worldwide. Our previous work has shown the overexpression of flotillin‐1 (FLOT1) in OC tissue. To improve diagnostic sensitivity and accuracy, we evaluated the serum level of FLOT1 in OC patients and found that the serum concentration of FLOT1 as well as CA125 was
Bin Guan +7 more
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Unstable Mutations in the FMR1 Gene and the Phenotypes [PDF]
, 2012 Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene.
Danuta Z. Loesch, Randi J Hagerman
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The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [PDF]
Journal of Neurodevelopmental Disorders, 2014 The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females.
Grigsby, J. +9 more
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Movement Disorders, Volume 40, Issue 6, Page 996-1008, June 2025.Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan +4 more
wiley +1 more source
Long‐Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
Movement Disorders, Volume 40, Issue 6, Page 1009-1019, June 2025.Abstract Long‐read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long‐read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long‐range phasing.
Thomas Wirth +2 more
wiley +1 more source
Phase Separation: A New Dimension to Understanding Tumor Biology and Therapy
MedComm – Oncology, Volume 4, Issue 2, June 2025.Liquid–liquid phase separation (LLPS) facilitates the assembly of biomolecular condensates by leveraging weak multivalent interactions. The low‐complexity domains, foldable domains of proteins, and nucleic acids provide multivalent interaction sites among different molecules and contribute to the formation of condensates.
Xingwen Wang +4 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2022 Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang +12 more
doaj
Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder +4 more
wiley +1 more source
Frontiers in Cellular Neuroscience, 2013 Young, but not adult, Fmr1 knockout (KO) mice display audiogenic seizures (AGS) that can be prevented by inhibiting extracellular signal-regulated kinases 1/2 (ERK1/2) phosphorylation. In order to identify the cerebral regions involved in these phenomena,
Giulia eCuria +5 more
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Mouse models of fragile X-related disorders
Disease Models & Mechanisms, 2023 Rob Willemsen, R. Frank Kooy
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