Výsledky vyhledávání

Isolation of the canine α-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels

Autor: D. S. Anson, T. Occhiodoro

Publikováno v: Mammalian Genome. 7:271-274

Fucosidosis is a lysosomal storage disorder caused by deficiency of alpha-L-fucosidase. A biochemically and clinically well characterized canine model of fucosidosis exists in a colony of English Springer Spaniels. To facilitate its use as a model fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea5eaad62e9ba7c3a1aabf8e6465ace7
https://doi.org/10.1007/s003359900081

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Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow

Autor: J. R. Arrand, G. T. N. Besley, James E. Wraith, T. M. Dexter, Elaine Spooncer, Linda S Lashford, Alan Cooper, D. S. Anson, C. E. Hatton, J. E. Arrand, G. Lebens, John J. Hopwood, Ilaria Bellantuono, R. H. McDermott, R. Holt, Leslie J. Fairbairn

Publikováno v: Proceedings of the National Academy of Sciences. 93:2025-2030

Allogeneic bone marrow transplantation is the most effective treatment for Hurler syndrome but, since this therapy is not available to all patients, we have considered an alternative approach based on transfer and expression of the normal gene in aut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bec05cddd0ff71220eda0725df57c180
https://doi.org/10.1073/pnas.93.5.2025

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Rational development of a HIV-1 gene therapy vector

Autor: D S, Anson, M, Fuller

Publikováno v: The journal of gene medicine. 5(10)

HIV-1 provides an attractive option as the basis for gene transfer vectors due to its ability to stably transduce non-cycling cell populations. In order to fully utilise the promise of HIV-1 as a vector it is important that the effects of viral cis s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6e23d247ba80ac5aaf82935f31a932ef
https://pubmed.ncbi.nlm.nih.gov/14533191

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Retroviral-mediated gene transduction

Autor: D S, Anson

Publikováno v: Methods in molecular biology (Clifton, N.J.). 175

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::78ff5b808cfb5b111a59bb240c02841e
https://pubmed.ncbi.nlm.nih.gov/11462853

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Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity

Autor: G, Yogalingam, J J, Hopwood, A, Crawley, D S, Anson

Publikováno v: The Journal of biological chemistry. 273(22)

The missense mutation, L476P, in the N-acetylgalactosamine 4-sulfatase (4S) gene, has previously been shown to be associated with a severe feline mucopolysaccharidosis type VI (MPS VI) phenotype. The present study describes a second mutation, D520N,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4a0e82eaef362869804473ad9e026ae6
https://pubmed.ncbi.nlm.nih.gov/9593674

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Determination of cell origin after marrow transplantation in canines by polymerase chain reaction and quantitation of the ZFY/ZFX genes

Autor: M L, Ferrara, S M, Teutsch, W J, Hawthorne, V E, Tucker, G J, Stewart, D S, Anson

Publikováno v: Transplantation. 65(8)

In order to follow the course of bone marrow engraftment in dogs, and to determine the presence, and percentage, of donor-derived cells in other canine tissues, a simple and fast method of determining cell origin after sex-mismatched bone marrow tran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::200dd98533142c466fe293f5b0cd46be
https://pubmed.ncbi.nlm.nih.gov/9583872

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Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease

Autor: G, Yogalingam, T, Litjens, J, Bielicki, A C, Crawley, V, Muller, D S, Anson, J J, Hopwood

Publikováno v: The Journal of biological chemistry. 271(44)

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (4S) leading to the lysosomal accumulation and urinary excretion of dermatan sulfate. MPS VI has also been described

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4dce16cefbca2ed380285bab67dae3e5
https://pubmed.ncbi.nlm.nih.gov/8910299

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Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients

Autor: George G. Brownlee, P.R. Winship, Derek J. Blake, D. S. Anson, D. Birnbaum

Publikováno v: The EMBO Journal. 7:2795-2799

The mcf.2 transforming gene sequence has been located to the region between 29 and 61 kb 3' of the factor IX gene. Two unrelated haemophilia B patients who raise antibodies to infused factor IX ('inhibitors') have deletions in excess of 273 kb encomp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b90d06f707d1e89156962e2e29b25e
https://doi.org/10.1002/j.1460-2075.1988.tb03134.x

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The gene structure of human anti-haemophilic factor IX

Autor: J. A. Huddleston, F. Giannelli, George G. Brownlee, D. J. G. Rees, K. Gould, K. H. Choo, D. S. Anson

Publikováno v: Scopus-Elsevier

The mRNA sequence of the human intrinsic clotting factor IX (Christmas factor) has been completed and is 2802 residues long, including a 29 residue long 5' non-coding and a 1390 residue long 3' non-coding region, but excluding the poly(A) tail. The f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c855a1006b16412a93ddfaa3f1d5ca9
https://doi.org/10.1002/j.1460-2075.1984.tb01926.x

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