4 results match your criteria: "Cleveland Clinic College of Medicine of Case Western Reserve University[Affiliation]"

Spliceosomal factor mutations and mis-splicing in MDS.

Best Pract Res Clin Haematol

September 2020

Department of Molecular Medicine, Cleveland Clinic College of Medicine of Case Western Reserve University, Cleveland, OH, USA. Electronic address:

Article Synopsis
  • * These mutations cause specific changes in alternative splicing patterns, influencing the expression of certain genes.
  • * The paper reviews the normal roles of these proteins, identifies key mis-spliced genes, and explores other potential disease mechanisms linked to these mutations.
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encodes the metabotropic glutamate receptor 6 (mGluR6) used by retinal depolarizing bipolar cells (DBCs). Mutations in lead to DBC dysfunction and underlie the human condition autosomal recessive complete congenital stationary night blindness. Mouse mutants for are important models for this condition.

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Transcriptional profile of genes involved in oxidative stress and antioxidant defense in a dietary murine model of steatohepatitis.

Antioxid Redox Signal

July 2011

Department of Cell Biology, Lerner Research Institute, The Cleveland Clinic College of Medicine of Case Western Reserve University, Cleveland Clinic, Cleveland, Ohio, USA.

Oxidative stress is a core abnormality responsible for disease progression in nonalcoholic steatohepatitis (NASH). However, the relevant pathways that contribute to oxidative damage in vivo remain poorly understood. Here we explore the gene-expression patterns related to oxidative stress, antioxidant defense, and reactive oxygen metabolism in an established dietary murine model of NASH.

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Platelet-activating factor (PAF), a phospholipid autacoid with potent effects throughout the innate immune system, is selectively degraded by two small families of PAF acetylhydrolases (PAF-AHs). These Ca2+-independent phospholipases A2 display remarkable specificity for the length of the sn-2 residue, but this selectivity is lost as the residue gains oxygen functions. Two of the PAF-AHs therefore are specific oxidized phospholipid phospholipases that reduce inflammation, but also remove oxidatively truncated phospholipids that induce apoptosis.

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