ALBERT

All Library Books, journals and Electronic Records Telegrafenberg

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects (2016)
    Oxford University Press
    Details
    Publication Date: 2016-07-06
    Description: Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. Whilst 〉450 skeletal dysplasias have been reported, 30% are genetically uncharacterized. We report two Irish Traveller families with a previously undescribed lethal skeletal dysplasia characterized by fetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic dysplasia, pulmonary hypoplasia and protruding abdomen. Single nucleotide polymorphism homozygosity mapping and whole exome sequencing identified a novel homozygous stop-gain mutation in NEK9 (c.1489C〉T; p.Arg497*) as the cause of this disorder. NEK9 encodes a never in mitosis gene A-related kinase involved in regulating spindle organization, chromosome alignment, cytokinesis and cell cycle progression. This is the first disorder to be associated with NEK9 in humans. Analysis of NEK9 protein expression and localization in patient fibroblasts showed complete loss of full-length NEK9 (107 kDa). Functional characterization of patient fibroblasts showed a significant reduction in cell proliferation and a delay in cell cycle progression. We also provide evidence to support possible ciliary associations for NEK9. Firstly, patient fibroblasts displayed a significant reduction in cilia number and length. Secondly, we show that the NEK9 orthologue in Caenorhabditis elegans , nekl-1 , is almost exclusively expressed in a subset of ciliated cells, a strong indicator of cilia-related functions. In summary, we report the clinical and molecular characterization of a lethal skeletal dysplasia caused by NEK9 mutation and suggest that this disorder may represent a novel ciliopathy.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 2
    facet.materialart.
    Unknown
    Cysteine redox sensor in PKGIa enables oxidant-induced activation (2007)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2007-08-25
    Description: Changes in the concentration of oxidants in cells can regulate biochemical signaling mechanisms that control cell function. We have found that guanosine 3',5'-monophosphate (cGMP)-dependent protein kinase (PKG) functions directly as a redox sensor. The Ialpha isoform, PKGIalpha, formed an interprotein disulfide linking its two subunits in cells exposed to exogenous hydrogen peroxide. This oxidation directly activated the kinase in vitro, and in rat cells and tissues. The affinity of the kinase for substrates it phosphorylates was enhanced by disulfide formation. This oxidation-induced activation represents an alternate mechanism for regulation along with the classical activation involving nitric oxide and cGMP. This mechanism underlies cGMP-independent vasorelaxation in response to oxidants in the cardiovascular system and provides a molecular explantion for how hydrogen peroxide can operate as an endothelium-derived hyperpolarizing factor.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Burgoyne, Joseph R -- Madhani, Melanie -- Cuello, Friederike -- Charles, Rebecca L -- Brennan, Jonathan P -- Schroder, Ewald -- Browning, Darren D -- Eaton, Philip -- G0700320/Medical Research Council/United Kingdom -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2007 Sep 7;317(5843):1393-7. Epub 2007 Aug 23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Cardiology, Cardiovascular Division, King's College London, Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17717153" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Aorta ; Cell Line ; Cyclic GMP/metabolism ; Cyclic GMP-Dependent Protein Kinase Type I ; Cyclic GMP-Dependent Protein Kinases/genetics/*metabolism ; Cysteine/*metabolism ; Disulfides/metabolism ; Enzyme Activation ; Humans ; Hydrogen Peroxide/metabolism ; Male ; Nitric Oxide/metabolism ; Oxidants/*metabolism ; Oxidation-Reduction ; Oxidative Stress ; Rats ; Rats, Wistar ; Signal Transduction ; Tissue Culture Techniques ; Transfection ; Vasodilation/physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 3
    Electronic Resource
    Electronic Resource
    An Economic Investigation of Early-Generation Quality Testing in a Wheat Breeding Program (1991)
    Oxford, UK : Blackwell Publishing Ltd
    Plant breeding 106 (1991), S. 0 
    Details
    ISSN: 1439-0523
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: Public plant breeders, in seeking the most efficient means of achieving their objectives, face decisions on the appropriate breeding strategy and program structure to use. This paper reports an analysis comparing the changes in costs and benefits from the introduction of recent technology enabling testing for flour and dough properties to be carried out on small samples in the early-generations of a wheat breeding program in Australia. The average costs of a suite of early-generation tests are higher than the equivalent (unreplicated) yield testing. The analysis presented confirms that the introduction of early-generation quality testing leads to a faster rate of expected progress in quality, but a slower rate of progress in yield. The estimated market value of an increase in yield is greater than that for quality, based on current market information. Thus, the result of incorporating early-generation quality testing is higher costs and lower expected returns, so that there is a loss of community welfare from using early-generation quality testing if the resultant cultivar is released from each program. However, the probability of the higher-quality cultivar being released for commercial cultivation is greater, so that recognition of the probability of release means that there may be net gains from the use of early-generation quality testing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1439-0523.1991.tb00491.x
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    facet.materialart.
    Unknown
    Widespread sulfenic acid formation in tissues in response to hydrogen peroxide (2004)
    National Academy of Sciences
    Details
    Publication Date: 2004-12-16
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 5
    facet.materialart.
    Unknown
    PAPER PRESENTED AT INTERNATIONAL WORKSHOP ON INCREASING WHEAT YIELD POTENTIAL, CIMMYT, OBREGON, MEXICO, 20–24 MARCH 2006 An economic assessment of the use of physiological selection for stomatal aperture-related traits in the CIMMYT wheat breeding programme (2007)
    Cambridge University Press
    Details
    Publication Date: 2007-03-15
    Description: Physiological research has shown that measurements on small plots of stomatal conductance, canopy temperature depression (CTD) or carbon isotope discrimination may be useful for screening breeding populations for yield potential, prior to the execution of expensive replicated yield trials. Such indirect selection criteria may be very effective as lower cost alternatives for estimating genetic gain for complex characteristics such as yield that are relatively expensive to measure accurately in the field. In the present paper, economic analysis is undertaken of the results of trials conducted at the International Maize and Wheat Improvement Center (CIMMYT) over three seasons to determine the value of the physiological traits being assessed. The results indicate that the economic value of incorporating these measurements into CIMMYT's breeding programme is potentially important. CTD and stomatal conductance are relatively cheap to measure and could be used to discard lines prior to extensive yield testing, whereas carbon isotope discrimination is relatively expensive and would not be economic for this purpose. The analysis indicates that the incorporation of physiological measurements is likely to provide important economic benefits to the programme. Indications are that other breeding programmes with similar breeding goals and comparable costing structures might also consider using such indirect selection traits.
    Print ISSN: 0021-8596
    Electronic ISSN: 1469-5146
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Published by Cambridge University Press
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...