Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Lucille Voullaire"'
Autor:
Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e55940 (2013)
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression a
Externí odkaz:
https://doaj.org/article/6c818b2755be434799b34faa3af0db95
Autor:
Samuel McLenachan, Kerry J. Fowler, Lucille Voullaire, Yona Goldshmit, Panos A. Ioannou, Timothy P. Holloway, Joseph P. Sarsero, Ann M. Turnley
Publikováno v:
Transgenic Research. 17:1103-1116
The development of homologous recombination methods for the precise modification of bacterial artificial chromosomes has allowed the introduction of disease causing mutations or fluorescent reporter genes into human loci for functional studies. We ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3fb9e04299b5ea131025d7d2cacc626
https://doi.org/10.1007/s11248-008-9210-7
https://doi.org/10.1007/s11248-008-9210-7
Publikováno v:
Gene Therapy. 15:1372-1383
The stable, regulated and tissue-specific expression of a therapeutic transgene can be best achieved by the transfer of a complete genomic locus, which will include the short- and long-range regulatory elements that are critical for the accurate cont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d9bf51765e435f772e263520b009e50
https://doi.org/10.1038/gt.2008.84
https://doi.org/10.1038/gt.2008.84
Publikováno v:
The Journal of Gene Medicine. 10:42-50
Background There is a risk of insertional mutagenesis when techniques that facilitate random integration of exogenous DNA into the human genome are used for gene therapy. Wild-type adeno-associated virus (AAV) integrates preferentially into a specifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4be1fd0af54e90e072ac49450d6f5cfb
https://doi.org/10.1002/jgm.1118
https://doi.org/10.1002/jgm.1118
Autor:
Suthat Fucharoen, Kerry J. Fowler, Faten Zaibak, Duangporn Jamsai, Robert Williamson, Jim Vadolas, Sophie Gazeas, Wantana Khongnium, Panayiotis A. Ioannou, Lucille Voullaire
Publikováno v:
Genomics. 85:453-461
Accurate animal models that recapitulate the phenotype and genotype of patients with beta-thalassemia would enable the development of a range of possible therapeutic approaches. Here we report the generation of a mouse model carrying the codons 41-42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60a31ea8f7747c3920e9ca077818380
https://doi.org/10.1016/j.ygeno.2004.11.016
https://doi.org/10.1016/j.ygeno.2004.11.016
Publikováno v:
American Journal of Medical Genetics Part A. :151-157
We describe a boy with moderate intellectual disability associated with distinctive hand malformations (hypoplastic and angel-shaped middle phalanges) and partial growth hormone (GH) deficiency associated with mosaic deletion of 13q31.1-13q32.3. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcdfd33e3a2bf78a9afadf01ba2b316c
https://doi.org/10.1002/ajmg.a.30527
https://doi.org/10.1002/ajmg.a.30527
Autor:
Lingli Li, Robert Williamson, Kerry J. Fowler, Timothy P. Holloway, Michel Koenig, Lucille Voullaire, David R. Thorburn, Denise M. Kirby, Sophie Gazeas, Panos A. Ioannou, Surindar S Cheema, Adam Galle, Joseph P. Sarsero
Publikováno v:
Mammalian Genome. 15:370-382
Three independent transgenic mouse lines were generated with the human Friedreich ataxia gene, FRDA, in an 188-kb bacterial artificial chromosome (BAC) genomic sequence. Three copies of the transgene per diploid mouse genome were integrated in a sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38080592727ca6c9e113345b357e9f43
https://doi.org/10.1007/s00335-004-3019-3
https://doi.org/10.1007/s00335-004-3019-3
Autor:
Hady Wardan, Lucille Voullaire, Jim Vadolas, Michael Orford, Faten Zaibak, Panayiotis A. Ioannou, Robert Williamson
Publikováno v:
Blood. 100:4209-4216
Reactivation of fetal hemoglobin genes has been proposed as a potential therapeutic procedure in patients with beta-thalassemia, sickle cell disease, or other beta-hemoglobinopathies. In vitro model systems based on small plasmid globin gene construc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285a085c2744783fdfa10ec2090725c5
https://doi.org/10.1182/blood-2001-12-0365
https://doi.org/10.1182/blood-2001-12-0365
Publikováno v:
New England Journal of Medicine. 345:1537-1541
Embryos that are transferred after in vitro fertilization frequently fail to implant in the uterus; in many cases, this failure is due to chromosomal abnormalities in the embryo. The current methods of diagnosis of aneuploidy cannot detect many chrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f531e96a4e20e28457925be1b5e8d76a
https://doi.org/10.1056/nejmoa011052
https://doi.org/10.1056/nejmoa011052
Autor:
Sue Dale, Elizabeth D. Earle, Danielle V. Irvine, Lucille Voullaire, Richard Saffery, K. H. Andy Choo, Tracy Fleming, Desirée du Sart, Howard R. Slater
Publikováno v:
American Journal of Medical Genetics. 102:86-94
Marker chromosomes containing active human neocentromeres have been described in individuals where the chromosomes are non-mosaic, suggesting that they are mitotically stable, but also in individuals where there is mosaicism, raising the possibility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fda6f12b043e54ef4810801325ca3aa1
https://doi.org/10.1002/1096-8628(20010722)102:1<86::aid-ajmg1390>3.0.co
https://doi.org/10.1002/1096-8628(20010722)102:1<86::aid-ajmg1390>3.0.co