6 research outputs found

    Nosology of genetic skeletal disorders: 2023 revision.

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    The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine

    The need to breed crop varieties suitable for organic farming, using wheat, tomato and broccoli as examples: A review

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    It is estimated that more than 95% of organic production is based on crop varieties that were bred for the conventional high-input sector. Recent studies have shown that such varieties lack important traits required under organic and low-input production conditions. This is primarily due to selection in conventional breeding programmes being carried out in the background of high inorganic fertilizer and crop protection inputs. Also, some of the traits (e.g., semi-dwarf genes) that were introduced to address problems like lodging in cereals in high-input systems were shown to have negative side-effects (reduced resistance to diseases such as Septoria, lower protein content and poorer nutrient-use efficiency) on the performance of varieties under organic and low-input agronomic conditions. This review paper, using wheat, tomato and broccoli as examples, describes (1) the main traits required under low-input conditions, (2) current breeding programmes for organic, low-input agriculture, (3) currently available breeding and/or selection approaches, and (4) the benefits and potential negative side-effects of different breeding methodologies and their relative acceptability under organic farming principles. © 2010 Royal Netherlands Society for Agricultural Sciences. Published by Elsevier B.V. All rights reserved

    Experimental Results: In vivo

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