Publications by authors named "A L Duker"

Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing-WES; whole-genome sequencing-WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology.

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  • * Through analysis of fibroblasts and a fruit fly model, we found that these variants resulted in decreased lipid droplet formation and impaired gene expression linked to SREBP, indicating disrupted pathway function.
  • * Our findings suggest that SREBF2 variants hinder the cleavage of S1P targets, causing disease symptoms by negatively affecting SREBP1 and SREBP2 activity.
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  • The skeletal dysplasias are a diverse group of genetic conditions impacting bone and cartilage growth, but the role of cytokines in these disorders is not well understood.
  • A study analyzed cytokine levels in 136 children with skeletal dysplasia compared to 275 healthy controls, focusing on 12 specific cytokines across various dysplasia types.
  • Findings revealed significant differences in cytokine expression, with certain cytokines consistently elevated or decreased across all dysplasia cohorts, highlighting particularly high levels in MOPDII cases.
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Hereditary spastic parapareses (HSPs) are clinically heterogeneous motor neuron diseases with variable age of onset and severity. Although variants in dozens of genes are implicated in HSPs, much of the genetic basis for pediatric-onset HSP remains unexplained. Here, we re-analyzed clinical exome-sequencing data from siblings with HSP of unknown genetic etiology and identified an inherited nonsense mutation (c.

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