• Title/Summary/Keyword: EDMD

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Laminopathies; Mutations on single gene and various human genetic diseases

  • Kang, So-mi;Yoon, Min-Ho;Park, Bum-Joon
    • BMB Reports
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    • v.51 no.7
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    • pp.327-337
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    • 2018
  • Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy. In this review, we briefly overview the relevance of genetic mutations of Lamin A, human disorders and laminopathies. We also discuss a mouse model for genetic diseases. Finally, we describe the current treatment for laminopathies.

Determination of Nutritive Value of Wild Mustard, Sinapsis arvensis Harvested at Different Maturity Stages Using In situ and In vitro Measurements

  • Kamalak, Adem;Canbolat, Onder;Gurbuz, Yavuz;Ozkan, Cagri Ozgur;Kizilsimsek, Mustafa
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.9
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    • pp.1249-1254
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    • 2005
  • The aim of this study was to determine the effect of maturity stage on the nutritive value of wild mustard straw in terms of chemical composition, in situ, in vitro dry matter degradability and calculated ME. The nutritive values of wild mustard, Sinapsis arvensis hays harvested at three stages were evaluated by chemical composition, in vitro gas production and in situ dry matter degradation methods. Gas production or dry matter (DM) degradation were determined at 0, 3, 6, 12, 24, 48, 72 and 96 h and their kinetics were described using the equation p = a+b(1-e$^{-ct}$). Maturity had a significant effect on both the chemical composition and degradability of wild mustard. Neutral detergent fibre (NDF) and acid detergent fibre (ADF) (p<0.001) increased with increasing maturity whereas the crude protein (CP) (p<0.001) decreased. The gas produced after 96 h incubation ranged between 64.7 and 81.5 ml per 0.200 g of dry matter. The gas production (ml) at all incubation times and estimated parameters decreased with increasing maturity of wild mustard. The gas production at all incubation times and estimated parameters (a, b (a+b), metabolizable energy (ME) and organic matter digestibility (OMD)) were negatively correlated with NDF and ADF. The DM disappearance after 96 h incubation ranged between 50.8 and 76.1%. The in situ DM disappearance at all incubation times and estimated parameters decreased with increasing maturity of wild mustard. The in situ dry matter disappearance at all incubation times and some estimated parameters (c, a, b and effective dry matter degradability (EDMD)) were negatively correlated with NDF and ADF but positively correlated with CP. The nutritive value of wild mustard continually changed as it matured. Wild mustard, harvested at the proper stage of maturity offers considerable potential as a high quality forage for ruminants during the winter feeding period. The present study showed that if higher quality forage is an objective, wild mustard should be harvested at the early flowering stage.