Publications by authors named "V De Ninis"

Effects of yessotoxin (YTX) on the skeletal muscle: an update.

Food Addit Contam Part A Chem Anal Control Expo Risk Assess

September 2008

Yessotoxins (YTXs) are algal toxins originally included in the diarrheic toxins. After oral intake, YTXs induce only ultra-structural changes (packages of swollen mitochondria) in cardiac cells. The aim of this study was to investigate the possible effects of YTX on the other contractile striated tissue, the skeletal muscle, in vitro and in vivo.

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Ongoing modernization in India has elevated the prevalence of many complex genetic diseases associated with a western lifestyle and diet to near-epidemic proportions. However, although India comprises more than one sixth of the world's human population, it has largely been omitted from genomic surveys that provide the backdrop for association studies of genetic disease. Here, by genotyping India-born individuals sampled in the United States, we carry out an extensive study of Indian genetic variation.

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Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.

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Article Synopsis
  • Seckel syndrome (SCKL) is a rare genetic disorder with diverse symptoms and has multiple identified genetic loci associated with it.
  • A new genetic locus, named SCKL3, has been discovered on chromosome 14q through research involving 13 Turkish families, including 18 affected siblings.
  • Out of 10 families studied, five showed linkage to the new locus, with some also linked to previously known loci, indicating complex genetic relationships among families, and SCKL3 contains a gene linked to DNA repair.
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