Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Stuart Cobb"'
Autor:
Stephanie A. Zlatic, Duc Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J. Fink, Omar Khwaja, Lindsay C. Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez
Publikováno v:
iScience, Vol 25, Iss 9, Pp 104966- (2022)
Summary: MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteom
Externí odkaz:
https://doaj.org/article/3dab4af82ddd47d782dbe33e5cc615d1
Autor:
Katalin Susztak, Taosheng Chen, John W. Christman, Yuntao Bai, Stuart Cobb, Ming Poi, Harpreet Singh, Sharyn D. Baker, Rajgopal Govindarajan, Rachel E. Cianciolo, Jiyoung Kim, Sangwoon Chung, Radhika Raj, Alex Sparreboom, Laura A. Jayne, Navjotsingh Pabla, Shreshtha Rojesh, David S. Gardner, Ralph D. Hector, Moray J. Campbell, Mei Ji He Ho Feng, Avinash K. Persaud, Su Sien Ong
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Kim, J Y, Bai, Y, Jayne, L A, Hector, R, Persaud, A K, Ong, S S, Rojesh, S, Feng, M J H H, Chung, S, Cianciolo, R E, Christman, J W, Campbell, M J, Gardner, D S, Baker, S D, Sparreboom, A, Govindarajan, R, Singh, H, Chen, T, Po, M, Susztak, K, Cobb, S & Pabla, N S 2020, ' A Kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury ', Nature Communications . https://doi.org/10.1038/s41467-020-15638-6
Kim, J Y, Bai, Y, Jayne, L A, Hector, R, Persaud, A K, Ong, S S, Rojesh, S, Feng, M J H H, Chung, S, Cianciolo, R E, Christman, J W, Campbell, M J, Gardner, D S, Baker, S D, Sparreboom, A, Govindarajan, R, Singh, H, Chen, T, Po, M, Susztak, K, Cobb, S & Pabla, N S 2020, ' A Kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury ', Nature Communications . https://doi.org/10.1038/s41467-020-15638-6
Renal tubular epithelial cells (RTECs) perform the essential function of maintaining the constancy of body fluid composition and volume. Toxic, inflammatory, or hypoxic-insults to RTECs can cause systemic fluid imbalance, electrolyte abnormalities an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf5c57fa795f052eac079df1d6607f67
https://doaj.org/article/f36413dcdc0f4c47bbdac00ac1a34b20
https://doaj.org/article/f36413dcdc0f4c47bbdac00ac1a34b20
Autor:
Mustafa Sahin, Srikant Rangaraju, Ruth Shah, Brenda Murage, Stuart Cobb, Prateek Kumar, Sruti Rayaprolu, Lindsay C. Swanson, Omar Khwaja, Victor Faundez, Kamal Ke Gadalla, Adrian Bird, Lingyan Ping, Daniel C. Tarquinio, Duc M. Duong, Stephanie A. Zlatic
MECP2 loss-of-function mutations cause Rett syndrome, a disorder that results from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome in Rett syndrome cerebr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b0e562af9454e794223b441a81055d2
https://doi.org/10.1101/2021.11.30.470580
https://doi.org/10.1101/2021.11.30.470580
Autor:
Kamal K.E. Gadalla, Stuart Cobb, Maria Velasco-Estevez, Graham K. Sheridan, Núria Liñan-Barba, Kumlesh K. Dev
Publikováno v:
Velasco-Estevez, M, Gadalla, K K E, Liñan-Barba, N, Cobb, S, Dev, K K & Sheridan, G K 2019, ' Inhibition of Piezo1 attenuates demyelination in the central nervous system ', Glia . https://doi.org/10.1002/glia.23722
Piezo1 is a mechanosensitive ion channel that facilitates the translation of extracellular mechanical cues to intracellular molecular signaling cascades through a process termed, mechanotransduction. In the central nervous system (CNS), mechanically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bcf772141e67ea10e95334a01fc88ac
https://doi.org/10.1002/glia.23722
https://doi.org/10.1002/glia.23722
Autor:
Stuart Cobb
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fcef187f1967ad9611808c918cdfbca
https://pubmed.ncbi.nlm.nih.gov/31973984
https://pubmed.ncbi.nlm.nih.gov/31973984
Autor:
Stuart Cobb, Vincenzo Di Lazzaro, Leo Tomasevic, Antonietta Coppola, Fiore Manganelli, Raffaele Dubbioso, Pia Bernardo, Carmela Bravaccio
Objective Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations in the MECP2 gene. Motor impairment constitutes the core diagnostic feature of RTT. Preclinical studies have consistently demonstrated alter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ecb7501edaa560f4f45f4fe5aba070
http://hdl.handle.net/11588/803120
http://hdl.handle.net/11588/803120
Autor:
Jim Selfridge, Martha V. Koerner, Stuart Cobb, Ralph D. Hector, Adrian Bird, Kamal K.E. Gadalla, Diana De Sousa, Rebekah Tillotson, Jacky Guy
Publikováno v:
Tillotson, R, Selfridge, J, Koerner, M V, Gadalla, K K E, Guy, J, Sousa, D D, Hector, R D, Cobb, S R & Bird, A 2017, ' Radically truncated MeCP2 rescues Rett syndrome-like neurological defects ', Nature, vol. 550, pp. 398-401 . https://doi.org/10.1038/nature24058
Nature
Nature
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome1. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine2, 3. Functiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8baa1c6db53ce914041a3565714eceed
https://doi.org/10.1038/nature24058
https://doi.org/10.1038/nature24058
Autor:
Mark E.S. Bailey, Stuart Cobb, Rhona McGonigal, Noha Gamal Bahey, Julia M. Edgar, Kamal K.E. Gadalla
Publikováno v:
Neuroscience. 358:261-268
Rett syndrome (RTT) is a neurological disorder characterized by motor and cognitive impairment, autonomic dysfunction and a loss of purposeful hand skills. In the majority of cases, typical RTT is caused by de novo mutations in the X-linked gene, MEC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92445add61985e8a46227f86944e963a
https://doi.org/10.1016/j.neuroscience.2017.06.061
https://doi.org/10.1016/j.neuroscience.2017.06.061
Publikováno v:
Hector, R D, Dando, O, Ritakari, T E, Kind, P C, Bailey, M E S & Cobb, S R 2017, ' Characterisation of Cdkl5transcript isoforms in rat ', Gene, vol. 603, pp. 21-26 . https://doi.org/10.1016/j.gene.2016.12.001
CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3′-untran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a46c06c8a30e957b4bda8b5401c5260
https://doi.org/10.1016/j.gene.2016.12.001
https://doi.org/10.1016/j.gene.2016.12.001
Publikováno v:
Leonard, H, Cobb, S & Downs, J 2017, ' Clinical and biological progress over 50 years in Rett syndrome ', Nature Reviews Neurology, vol. 13, no. 1, pp. 37-51 . https://doi.org/10.1038/nrneurol.2016.186
In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be851c09c90d29a785e2e5b1b09abafa
https://doi.org/10.1038/nrneurol.2016.186
https://doi.org/10.1038/nrneurol.2016.186