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  1. Article: Evaluation of molecules or extracts modulating seborrhea and its consequences, using normal human culture of sebocytes and keratinocytes, skin explants models and

    Mondon, Philippe / Toso, Roberto Dal / Ringenbach, Caroline / LavaissiÈre, Laurent / Doridot, Emmanuel / Ouvrat, Émilie / Brahimi, Sandra

    Journal of cosmetic science

    2017  Volume 68, Issue 2, Page(s) 183–194

    Abstract: Skin produces sebum through sebocytes. Hyper-seborrhea creates conditions for the development of inflamed cutaneous alterations through bacteria colonization triggering dead cell accumulation and pro-inflammatory mediator release. Study of sebum ... ...

    Abstract Skin produces sebum through sebocytes. Hyper-seborrhea creates conditions for the development of inflamed cutaneous alterations through bacteria colonization triggering dead cell accumulation and pro-inflammatory mediator release. Study of sebum production, its modulation, and its consequences requires complementary
    MeSH term(s) Acne Vulgaris/drug therapy ; Adult ; Cells, Cultured ; Dermatitis, Seborrheic/drug therapy ; Humans ; Keratinocytes/drug effects ; Keratinocytes/physiology ; Lipid Metabolism/drug effects ; Macrophages/drug effects ; Plant Extracts/chemistry ; Plant Extracts/pharmacology ; Plant Extracts/therapeutic use ; Sebum/drug effects ; Skin/cytology ; Skin/drug effects ; Syringa/chemistry ; Tissue Culture Techniques ; Young Adult
    Chemical Substances Plant Extracts
    Language English
    Publishing date 2017-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1435667-3
    ISSN 1525-7886 ; 0037-9832
    ISSN 1525-7886 ; 0037-9832
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3474: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  2. Article: A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

    Abitbol, Marie / Thibaud, Jean-Laurent / Olby, Natasha J / Hitte, Christophe / Puech, Jean-Philippe / Maurer, Marie / Pilot-Storck, Fanny / Hédan, Benoit / Dréano, Stéphane / Brahimi, Sandra / Delattre, Delphine / André, Catherine / Gray, Françoise / Delisle, Françoise / Caillaud, Catherine / Bernex, Florence / Panthier, Jean-Jacques / Aubin-Houzelstein, Geneviève / Blot, Stéphane /
    Tiret, Laurent

    Proceedings of the National Academy of Sciences of the United States of America. 2010 Aug. 17, v. 107, no. 33

    2010  

    Abstract: Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. ... ...

    Abstract Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. Rare adult forms of NCL with late onset are known as Kufs' disease. Loci underlying these adult forms remain unknown due to the small number of patients and genetic heterogeneity. Here we confirm that a late-onset form of NCL recessively segregates in US and French pedigrees of American Staffordshire Terrier (AST) dogs. Through combined association, linkage, and haplotype analyses, we mapped the disease locus to a single region of canine chromosome 9. We eventually identified a worldwide breed-specific variant in exon 2 of the Arylsulfatase G (ARSG) gene, which causes a p.R99H substitution in the vicinity of the catalytic domain of the enzyme. In transfected cells or leukocytes from affected dogs, the missense change leads to a 75% decrease in sulfatase activity, providing a functional confirmation that the variant might be the NCL-causing mutation. Our results uncover a protein involved in neuronal homeostasis, identify a family of candidate genes to be screened in patients with Kufs' disease, and suggest that a deficiency in sulfatase is part of the NCL pathogenesis.
    Keywords American Staffordshire Terrier ; active sites ; adults ; arylsulfatase ; children ; death ; dogs ; exons ; genes ; genetic heterogeneity ; haplotypes ; homeostasis ; leukocytes ; loci ; mutation ; pathogenesis ; patients ; pedigree ; seizures ; vision ; United States
    Language English
    Dates of publication 2010-0817
    Size p. 14775-14780.
    Publishing place National Academy of Sciences
    Document type Article
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.0914206107
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

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  3. Article ; Online: A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

    Abitbol, Marie / Thibaud, Jean-Laurent / Olby, Natasha J / Hitte, Christophe / Puech, Jean-Philippe / Maurer, Marie / Pilot-Storck, Fanny / Hédan, Benoit / Dréano, Stéphane / Brahimi, Sandra / Delattre, Delphine / André, Catherine / Gray, Françoise / Delisle, Françoise / Caillaud, Catherine / Bernex, Florence / Panthier, Jean-Jacques / Aubin-Houzelstein, Geneviève / Blot, Stéphane /
    Tiret, Laurent

    Proceedings of the National Academy of Sciences of the United States of America

    2010  Volume 107, Issue 33, Page(s) 14775–14780

    Abstract: Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. ... ...

    Abstract Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. Rare adult forms of NCL with late onset are known as Kufs' disease. Loci underlying these adult forms remain unknown due to the small number of patients and genetic heterogeneity. Here we confirm that a late-onset form of NCL recessively segregates in US and French pedigrees of American Staffordshire Terrier (AST) dogs. Through combined association, linkage, and haplotype analyses, we mapped the disease locus to a single region of canine chromosome 9. We eventually identified a worldwide breed-specific variant in exon 2 of the Arylsulfatase G (ARSG) gene, which causes a p.R99H substitution in the vicinity of the catalytic domain of the enzyme. In transfected cells or leukocytes from affected dogs, the missense change leads to a 75% decrease in sulfatase activity, providing a functional confirmation that the variant might be the NCL-causing mutation. Our results uncover a protein involved in neuronal homeostasis, identify a family of candidate genes to be screened in patients with Kufs' disease, and suggest that a deficiency in sulfatase is part of the NCL pathogenesis.
    MeSH term(s) ATP-Binding Cassette Transporters/genetics ; Age Factors ; Animals ; Arylsulfatases/deficiency ; Arylsulfatases/genetics ; Catalytic Domain/genetics ; Cell Line ; Cerebellar Cortex/metabolism ; Cerebellar Cortex/pathology ; Cerebellar Cortex/ultrastructure ; Chromosome Mapping ; Chromosomes, Mammalian/genetics ; Dog Diseases/enzymology ; Dog Diseases/genetics ; Dogs ; Female ; Gene Expression Profiling ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Male ; Microscopy, Electron, Transmission ; Molecular Sequence Data ; Mutation, Missense ; Neuronal Ceroid-Lipofuscinoses/veterinary ; Pedigree ; Polymorphism, Single Nucleotide ; Reverse Transcriptase Polymerase Chain Reaction
    Chemical Substances ATP-Binding Cassette Transporters ; Arylsulfatases (EC 3.1.6.1)
    Language English
    Publishing date 2010-08-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.0914206107
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1148: Show issues Location:
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  4. Article: A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

    Abitbol, Marie / Thibaud, Jean-Laurent / Olby, Natasha J. / Hitte, Christophe / Puech, Jean-Philippe / Maurer, Marie / Pilot-Storck, Fanny / Hédan, Benoit / Dréano, Stéphane / Brahimi, Sandra / Delattre, Delphine / André, Catherine / Gray, Françoise / Delisle, Françoise / Caillaud, Catherine / Bernex, Florence / Panthier, Jean-Jacques / Aubin-Houzelstein, Geneviève / Blot, Stéphane /
    Tiret, Laurent
    Language English
    Document type Article
    Database AGRIS - International Information System for the Agricultural Sciences and Technology

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