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pro vyhledávání: '"J. Pelka"'
Akademický článek
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Autor:
Gregory J. Pelka, Sook-Kwan Leang, Laura J. Gray, Anthony J. Hannan, Mari Kondo, John Christodoulou, Patrick P.L. Tam
Publikováno v:
Developmental Neurobiology. 76:209-224
Rett syndrome (RTT) is a neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) and consequent dysregulation of brain maturation. Patients suffer from a range of debilitating physical
Autor:
Patrick P.L. Tam, John Christodoulou, Carolyn Ellaway, Greg B. Peters, Sarah L. Williamson, Gregory J. Pelka
Publikováno v:
European Journal of Human Genetics
Rett syndrome (RTT), a neurodevelopmental disorder that predominantly affects females, is primarily caused by variants in MECP2. Variants in other genes such as CDKL5 and FOXG1 are usually associated with individuals who manifest distinct phenotypes
Autor:
Gregory J. Pelka, Sarah L. Williamson, John Christodoulou, Iain P. Hargreaves, Wendy A. Gold, Simranpreet Kaur, Patrick P.L. Tam, John M. Land
Publikováno v:
Mitochondrion. 15:10-17
Rett syndrome (RTT) is a severe neurodevelopmental disorder, predominantly caused by mutations in the X-linked Methyl-CpG-binding protein 2 (MECP2) gene. Patients present with numerous functional deficits including intellectual disability and abnorma
Publikováno v:
RNA Biology. 10:1741-1757
The discovery that Rett syndrome (RTT) is caused by mutation of the methyl-CpG-binding-protein MeCP2 provided a major breakthrough in understanding the neurodevelopmental disorder and accelerated MeCP2 research. However, gene regulation by MeCP2 is c
Autor:
Melinda Power, Alister P. W. Funnell, Ka Sin Mak, Andrew C. Perkins, Natalie A. Twine, Laura J. Norton, Patrick P.L. Tam, Stuart T. Fraser, Tania Radziewic, Richard C. M. Pearson, Marc R. Wilkins, Gregory J. Pelka, Kim S. Bell-Anderson, Merlin Crossley
Publikováno v:
Molecular and Cellular Biology. 33:2976-2987
Krüppel-like factors 3 and 8 (KLF3 and KLF8) are highly related transcriptional regulators that bind to similar sequences of DNA. We have previously shown that in erythroid cells there is a regulatory hierarchy within the KLF family, whereby KLF1 dr
Akademický článek
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Akademický článek
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Autor:
Gregory J. Pelka, Patrick P.L. Tam, Anthony J. Hannan, John Christodoulou, Mari Kondo, Laura J. Gray
Publikováno v:
European Journal of Neuroscience. 27:3342-3350
Rett syndrome, commonly associated with mutations of the methyl CpG-binding protein 2 (MECP2) gene, is characterised by an apparently normal early postnatal development followed by deterioration of acquired cognitive and motor coordination skills in
Autor:
John Christodoulou, Melinda Hayward, Patrick P.L. Tam, Tania Radziewic, Catherine M. Watson, Hooshang Lahooti, Gregory J. Pelka
Publikováno v:
Brain. 129:887-898
Rett syndrome (RTT) is a debilitating neurological condition associated with mutations in the X-linked MECP2 gene, where apparently normal development is seen prior to the onset of cognitive and motor deterioration at 6-18 months of life. A targeted