Publications by authors named "K A Fagan"
Cas9 editing of in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons.
Mol Ther Nucleic Acids
December 2024
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the gene. Currently there are no disease-modifying treatments; however, previous work has shown the potential of gene therapy, specifically RNAi, as a potential modality. Cas9 editing offers potential for these patients but has yet to be evaluated in SCA1 models.
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- Researchers identified bi-allelic disruptive variants as the cause of autosomal recessive intellectual developmental disorder type 65, while dominant variants are harder to link to specific traits due to their presence in unaffected individuals.
- The study involved a retrospective analysis of 21 individuals with likely pathogenic variants, focusing on clinical information and molecular data from their families.
- Key findings revealed that those with dominant disruptive variants exhibited more developmental and behavioral problems, while individuals with dominant missense variants had a higher occurrence of renal and skin anomalies, enhancing the understanding of the related neurodevelopmental disorder.
Two Squamomelanocytic Tumors With Dendritic Melanocytes: Thoughts About Origin.
Am J Dermatopathol
September 2024
Cutaneous malignant squamomelanocytic tumor (SMT) is a rare neoplasm comprising 2 distinct cell populations of squamous cell carcinoma and a second component of either benign or malignant melanocytes. SMT most often presents as a keratotic papule in areas of chronic sun exposure, typically on the head or neck of middle-aged and elderly-aged, White male patient populations. In recent years, there has been an increase in case reports, including a review article published in 2023, identifying a total of 37 cases published in the literature.
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