Zobrazeno 1 - 10
of 450
pro vyhledávání: '"D. Wilton"'
Autor:
X. Fettweis, S. Hofer, U. Krebs-Kanzow, C. Amory, T. Aoki, C. J. Berends, A. Born, J. E. Box, A. Delhasse, K. Fujita, P. Gierz, H. Goelzer, E. Hanna, A. Hashimoto, P. Huybrechts, M.-L. Kapsch, M. D. King, C. Kittel, C. Lang, P. L. Langen, J. T. M. Lenaerts, G. E. Liston, G. Lohmann, S. H. Mernild, U. Mikolajewicz, K. Modali, R. H. Mottram, M. Niwano, B. Noël, J. C. Ryan, A. Smith, J. Streffing, M. Tedesco, W. J. van de Berg, M. van den Broeke, R. S. W. van de Wal, L. van Kampenhout, D. Wilton, B. Wouters, F. Ziemen, T. Zolles
Publikováno v:
The Cryosphere, Vol 14, Pp 3935-3958 (2020)
Observations and models agree that the Greenland Ice Sheet (GrIS) surface mass balance (SMB) has decreased since the end of the 1990s due to an increase in meltwater runoff and that this trend will accelerate in the future. However, large uncertainti
Externí odkaz:
https://doaj.org/article/a6eaddd9481f44e4ba65dc8723f8bbd0
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Down syndrome is a genetic-based disorder that results from the triplication of chromosome 21, leading to an overexpression of many triplicated genes, including the gene encoding Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A).
Externí odkaz:
https://doaj.org/article/7bd9e0f2f9304a299516f800d438406f
Autor:
Jessica M. Cale, Kristin A. Ham, Dunhui Li, Craig S. McIntosh, Gerald F. Watts, Steve D. Wilton, May T. Aung-Htut
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Splice modulating antisense oligomers (AOs) are increasingly used to modulate RNA processing. While most are investigated for their use as therapeutics, AOs can also be used for basic research. This study examined their use to investigate in
Externí odkaz:
https://doaj.org/article/10bd2f65b9ba4a9785fccfd552be3f14
Autor:
Sasiwimon Utama, Jessica M. Cale, Chalermchai Mitrpant, Sue Fletcher, Steve D. Wilton, May T. Aung-Htut
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8816 (2024)
Vascular Ehlers–Danlos syndrome or Ehlers–Danlos syndrome type IV (vEDS) is a connective tissue disorder characterised by skin hyperextensibility, joint hypermobility and fatal vascular rupture caused by COL3A1 mutations that affect collagen III
Externí odkaz:
https://doaj.org/article/5f30f03b1b764d8e94c30bc8feb9d6de
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5572 (2024)
Dysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene (DYSF) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle musc
Externí odkaz:
https://doaj.org/article/55faef01923c43a68d09e359fd9612e2
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/69bdad9e8dbe4f62a1217208267b5403
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 22, Iss , Pp 263-272 (2020)
Dystrophin plays a crucial role in maintaining sarcolemma stability during muscle contractions, and mutations that prevent the expression of a functional protein cause Duchenne muscular dystrophy (DMD). Antisense oligonucleotide-mediated manipulation
Externí odkaz:
https://doaj.org/article/5194b4eb8cc142648cdf40c35c8296d1
Autor:
Loren L. Flynn, Ruohan Li, Ianthe L. Pitout, May T. Aung-Htut, Leon M. Larcher, Jack A. L. Cooper, Kane L. Greer, Alysia Hubbard, Lisa Griffiths, Charles S. Bond, Steve D. Wilton, Archa H. Fox, Sue Fletcher
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Oligonucleotides and nucleic acid analogues that alter gene expression are now showing therapeutic promise in human disease. Whilst the modification of synthetic nucleic acids to protect against nuclease degradation and to influence drug function is
Externí odkaz:
https://doaj.org/article/ad5ce073129249a4a67d5806834bf299
Autor:
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Samuel McLenachan, Fred K. Chen
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102439- (2021)
Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallel
Externí odkaz:
https://doaj.org/article/f673ade02e254d86b1205023ee61cecb
Autor:
Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D Wilton, Fred K. Chen, Samuel McLenachan
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102448- (2021)
Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546-–10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient
Externí odkaz:
https://doaj.org/article/34a974bb98524303b53c590d835d3881