Publications by authors named "Wayne M Jepsen"

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results in muscle wasting and the replacement of myocytes with fatty or fibrous tissues. In the heart, cardiomyocytes eventually fail and cause fatal cardiomyopathy.

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Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase () gene (c.746 A>G, p.

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Article Synopsis
  • Mutations in the X-linked gene that encodes methyl-CpG-binding protein 2 are known to cause classical Rett syndrome (RTT) primarily in girls, while some patients present a 'Rett-syndrome-like phenotype' (RTT-L) without the typical mutations.
  • The study reports on eight patients diagnosed with RTT-L who have mutations in genes not directly linked to classical RTT, and analyzes their genetic data along with insights from existing research to build a comprehensive network of protein interactions involving RTT and RTT-L genes.
  • Functional analysis reveals key biological processes associated with these genes, highlighting the roles of specific transcription factors and suggesting that proteins HDAC1 and CHD4 may play crucial roles in the interaction network between RTT
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TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters to assemble the RNA polymerase II preinitiation complex. So far disorders related to variants in 5 of the 13 subunits of human transcription factor II D have been described.

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The organic anion transporter (), also known as , has been demonstrated in murine models of Alzheimer's disease (AD) to export amyloid beta (Abeta) from the endothelial cells of the blood-brain barrier to the periphery, and that pharmaceutical activation of can reduce amyloid plaque deposition in the brain. Here, we show that ABCC1 is not only capable of exporting Abeta from the cytoplasm of human cells, but also that its overexpression significantly reduces Abeta production and increases the ratio of alpha- versus beta-secretase mediated cleavage of the amyloid precursor protein (APP), likely via indirect modulation of alpha-, beta- and gamma-secretase activity.

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Telomeres are repetitive noncoding deoxynucleotide sequences that cap chromosomes to protect DNA. Telomere length (TL) is affected by both genetic and environmental factors, and shortening of telomeres is associated with multiple neuropsychiatric disorders, early life stress, and age-related cognitive dysfunction. Two previous studies associated shorter TL with autism spectrum disorder (ASD).

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Article Synopsis
  • Pelizaeus-Merzbacher-like disease (PMLD) is a genetic disorder marked by neurological issues like early-onset nystagmus, developmental delays, and spasticity, resembling another condition called Pelizaeus-Merzbacher disease (PMD).
  • A study reported a 12-year-old boy exhibiting classic PMLD symptoms and MRI results indicating severe myelination issues, linked to mutations in the SNAP29 gene.
  • The research highlights that mutations in SNAP29, previously associated with a different syndrome (CEDNIK), can also contribute to PMLD, broadening our understanding of the disease's genetic causes.
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We used Illumina Human HT-12 v4 arrays to compare RNA expression of middle temporal gyrus (MTG; BA21) in Alzheimer's disease (AD = 97) and non-demented controls (ND = 98). A total of 938 transcripts were highly differentially expressed (adj p < 0.01; log2 FC ≥ |0.

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Aim: To explore differential DNA methylation (DNAm) in Aicardi syndrome (AIC), a severe neurodevelopmental disorder with largely unknown etiology.

Patients & Methods: We characterized DNAm in AIC female patients and parents using the Illumina 450 K array. Differential DNAm was assessed using the local outlier factor algorithm, and results were validated via qPCR in a larger set of AIC female patients, parents and unrelated young female controls.

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