Publications by authors named "N K Fennelly"
Synaptic plasticity plays a fundamental role in neuronal dynamics, governing how connections between neurons evolve in response to experience. In this study, we extend a network model of θ-neuron oscillators to include a realistic form of adaptive plasticity. In place of the less tractable spike-timing-dependent plasticity, we employ recently validated phase-difference-dependent plasticity rules, which adjust coupling strengths based on the relative phases of θ-neuron oscillators.
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- Identified a new variant (p.R79W) in the ALG5 gene linked to late-onset ADPKD in two Irish families, highlighting its impact on kidney damage and fibrosis.
- Employed whole exome and targeted sequencing along with immunohistochemistry to examine genetic segregation and protein abnormalities in kidney biopsies from affected individuals.
- Found that ALG5 dysfunction disrupts the maturation and transport of uromodulin, leading to changes in kidney structure and function, thereby confirming ALG5's role in late-onset ADPKD.
Background And Aims: Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies.
Methods: In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria.
Actinomycosis is an invasive infection, which can affect numerous anatomical sites, though rarely the kidney. The rate of nephrectomy is high despite antibiotic therapy. A 51 year old presented with a renal abscess 9 years following a similar renal abscess.
View Article and Find Full Text PDFBackground: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to be identified.
Methods: Whole-genome sequencing was performed on 320 individuals from 201 families with familial and sporadic NS/FSGS with no pathogenic mutations in any known NS/FSGS genes.