Apolipoprotein A-IV amyloidosis (AApoA-Ⅳ) is a rare subtype of cardiac amyloidosis (CA) and is often overlooked because of its clinical similarity to transthyretin (ATTR) CA. An 82-year-old man presen Show more
Apolipoprotein A-IV amyloidosis (AApoA-Ⅳ) is a rare subtype of cardiac amyloidosis (CA) and is often overlooked because of its clinical similarity to transthyretin (ATTR) CA. An 82-year-old man presented with heart failure with preserved ejection fraction. His clinical features, including grade 1 uptake on Although the pathologic significance of the unique histologic features remains unclear, they may represent distinguishing characteristics of AApoA-IV amyloidosis. AApoA-IV CA typically presents with elderly-onset heart failure with preserved ejection fraction and may show positive uptake on bone scintigraphy. Differentiation from ATTR CA is possible based on characteristic histopathologic findings and mass spectrometry-based proteomic analysis. Show less
Sox9 is a direct transcriptional activator of cartilage-specific extracellular matrix genes and has essential roles in chondrogenesis. Mutations in or around the SOX9 gene cause campomelic dysplasia o Show more
Sox9 is a direct transcriptional activator of cartilage-specific extracellular matrix genes and has essential roles in chondrogenesis. Mutations in or around the SOX9 gene cause campomelic dysplasia or Pierre Robin Sequence. However, Sox9-dependent transcriptional control in chondrogenesis remains largely unknown. Here we identify Wwp2 as a direct target of Sox9. Wwp2 interacts physically with Sox9 and is associated with Sox9 transcriptional activity via its nuclear translocation. A yeast two-hybrid screen using a cDNA library reveals that Wwp2 interacts with Med25, a component of the Mediator complex. The positive regulation of Sox9 transcriptional activity by Wwp2 is mediated by the binding between Sox9 and Med25. In zebrafish, morpholino-mediated knockdown of either wwp2 or med25 induces palatal malformation, which is comparable to that in sox9 mutants. These results provide evidence that the regulatory interaction between Sox9, Wwp2 and Med25 defines the Sox9 transcriptional mechanisms of chondrogenesis in the forming palate. Show less
DUSP6 (alias PYST1), one of the dual-specificity tyrosine phosphatases, is localized on 12q21, one of the regions of frequent allelic loss in pancreatic cancer. This gene is composed of three exons, a Show more
DUSP6 (alias PYST1), one of the dual-specificity tyrosine phosphatases, is localized on 12q21, one of the regions of frequent allelic loss in pancreatic cancer. This gene is composed of three exons, and two forms of alternatively spliced transcripts are ubiquitously expressed. Although no mutations were observed in 26 pancreatic cancer cell lines, reduced expressions of the full-length transcripts were observed in some cell lines, which may suggest some role for DUSP6 in pancreatic carcinogenesis. Show less