Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nerea Ruiz-Blanes"'
Autor:
Alexander Neil Young, Emerald Perlas, Nerea Ruiz-Blanes, Andreas Hierholzer, Nicola Pomella, Belen Martin-Martin, Alessandra Liverziani, Joanna W. Jachowicz, Thomas Giannakouros, Andrea Cerase
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
Young et al. report a new mouse model for Pelger-Huet anomaly, a genetic disorder caused by mutations in the Lamin B receptor gene (Lbr) that leads to abnormal neutrophil differentiation and skeletal defects. Using CRISPR/Cas-9 editing of Lbr, which
Externí odkaz:
https://doaj.org/article/a0388b7db1f045ad87ee722dcc675a86
Autor:
Hyeong-Min Lee, M. Bram Kuijer, Nerea Ruiz Blanes, Ellen P. Clark, Megumi Aita, Lorena Galiano Arjona, Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Sanchita Bhatnagar, Benjamin D. Philpot, Andrea Cerase
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological
Externí odkaz:
https://doaj.org/article/f1d6c74a535f4002b4d27d4a54f485ae
Autor:
Andreas Hierholzer, Alessandra Liverziani, Thomas Giannakouros, Alexander N. Young, Belen Martin-Martin, Emerald Perlas, Nerea Ruiz-Blanes, Nicola Pomella, Joanna W. Jachowicz, Andrea Cerase
Publikováno v:
Communications Biology
Communications Biology, 4 (1)
Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
Communications Biology, 4 (1)
Communications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe18c469df2993a393c4155c2726f2
http://hdl.handle.net/11568/1120997
http://hdl.handle.net/11568/1120997
Autor:
Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Hyeong-Min Lee, Lorena Galiano Arjona, Nerea Ruiz Blanes, M. Bram Kuijer, Andrea Cerase, Benjamin D. Philpot, Ellen P. Clark, Sanchita Bhatnagar, Megumi Aita
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Journal of neurodevelopmental disorders, vol 12, iss 1
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Journal of neurodevelopmental disorders, vol 12, iss 1
Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological defects.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1756507511338468812543b6ec88c8da
http://hdl.handle.net/11568/1121003
http://hdl.handle.net/11568/1121003
Autor:
Young, Alexander Neil1,2, Perlas, Emerald1, Ruiz-Blanes, Nerea2, Hierholzer, Andreas1,3, Pomella, Nicola2, Martin-Martin, Belen2, Liverziani, Alessandra1, Jachowicz, Joanna W.4, Giannakouros, Thomas5, Cerase, Andrea1,2 a.cerase@qmul.ac.uk
Publikováno v:
Communications Biology. 4/12/2021, Vol. 4 Issue 1, p1-8. 8p.
A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.
Autor:
Lee, Hyeong-Min, Kuijer, M. Bram, Ruiz Blanes, Nerea, Clark, Ellen P., Aita, Megumi, Galiano Arjona, Lorena, Kokot, Agnieszka, Sciaky, Noah, Simon, Jeremy M., Bhatnagar, Sanchita, Philpot, Benjamin D., Cerase, Andrea
Publikováno v:
Journal of Neurodevelopmental Disorders; 11/10/2020, Vol. 12 Issue 1, pN.PAG-N.PAG, 1p