Zobrazeno 1 - 10
of 449
pro vyhledávání: '"Michael Piper"'
Autor:
Samantha Eby, Michael Piper
Publikováno v:
ARQ, Iss 116, Pp 134-143 (2024)
ReHousing y el proyecto de título “Santiago, Ciudad Cooperativa” ofrecen contribuciones al tema de la vivienda colectiva desde la perspectiva del diseño y la investigación académica, explorando alternativas al desarrollo inmobiliario convenci
Externí odkaz:
https://doaj.org/article/d9720903ccad43ce90d1bdbc8708705e
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S84-S85 (2023)
Externí odkaz:
https://doaj.org/article/b9cf13e340704aa88df3397cd6cb09d0
Autor:
Kreepa G. Kooblall, Mark Stevenson, Michelle Stewart, Lachlan Harris, Oressia Zalucki, Hannah Dewhurst, Natalie Butterfield, Houfu Leng, Tertius A. Hough, Da Ma, Bernard Siow, Paul Potter, Roger D. Cox, Stephen D.M. Brown, Nicole Horwood, Benjamin Wright, Helen Lockstone, David Buck, Tonia L. Vincent, Fadil M. Hannan, J.H. Duncan Bassett, Graham R. Williams, Kate E. Lines, Michael Piper, Sara Wells, Lydia Teboul, Raoul C. Hennekam, Rajesh V. Thakker
Publikováno v:
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall–Smi
Externí odkaz:
https://doaj.org/article/e6e65049660d4723b8974df714e0b83f
Autor:
Mainá Bitar, Christin Weissleder, Hayley F. North, Misaki S. Clearwater, Oressia Zalucki, Glenda M. Halliday, Maree J. Webster, Michael Piper, Cynthia Shannon Weickert, Guy Barry
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract The generation of new neurons within the mammalian forebrain continues throughout life within two main neurogenic niches, the subgranular zone (SGZ) of the hippocampal dentate gyrus, and the subependymal zone (SEZ) lining the lateral ventric
Externí odkaz:
https://doaj.org/article/9fb28e833e2a4b5da74e8d0075ffd3b1
Autor:
Tracey J. Harvey, Raul Ayala Davila, Diana Vidovic, Sazia Sharmin, Michael Piper, David G. Simmons
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-4 (2021)
Abstract Objective Sulfation is an essential physiological process that regulates the function of a wide array of molecules involved in brain development. We have previously shown expression levels for the sulfate transporter Slc13a4 to be elevated d
Externí odkaz:
https://doaj.org/article/eb7e968a24b344f8917377eaf004d03a
Autor:
Monika Gaik, Marija Kojic, Megan R Stegeman, Tülay Öncü‐Öner, Anna Kościelniak, Alun Jones, Ahmed Mohamed, Pak Yan Stefanie Chau, Sazia Sharmin, Andrzej Chramiec‐Głąbik, Paulina Indyka, Michał Rawski, Anna Biela, Dominika Dobosz, Amanda Millar, Vann Chau, Aycan Ünalp, Michael Piper, Mark C Bellingham, Evan E Eichler, Deborah A Nickerson, Handan Güleryüz, Nour El Hana Abbassi, Konrad Jazgar, Melissa J Davis, Saadet Mercimek‐Andrews, Sultan Cingöz, Brandon J Wainwright, Sebastian Glatt
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 7, Pp n/a-n/a (2022)
Abstract The highly conserved Elongator complex is a translational regulator that plays a critical role in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant variants have been reported in the catalytic Elp123 sub
Externí odkaz:
https://doaj.org/article/f87fbaa46ca24838baab46a1729467a8
Autor:
Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina D. Fenger, Camilla G. Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K. Hansen, Martin F. Boxill, Boris Keren, Isabelle Marey, Margarita S. Saenz, Kathleen Brown, Suzanne A. Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Bodén, Thomas H. J. Burne, Nathan J. Palpant, Rikke S. Møller, Sebastian Glatt, Brandon J. Wainwright
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stabi
Externí odkaz:
https://doaj.org/article/04bbd860a4c34da0ae14a920e50e23e1
Autor:
Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
Abstract USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense v
Externí odkaz:
https://doaj.org/article/698c9b16e7d1463b82071a45d7227565
Autor:
Behnam Rashidieh, Belal Shohayeb, Amanda Louise Bain, Patrick R. J. Fortuna, Debottam Sinha, Andrew Burgess, Richard Mills, Rachael C. Adams, J. Alejandro Lopez, Peter Blumbergs, John Finnie, Murugan Kalimutho, Michael Piper, James Edward Hudson, Dominic C. H. Ng, Kum Kum Khanna
Publikováno v:
PLoS Genetics, Vol 17, Iss 10 (2021)
Homozygous nonsense mutations in CEP55 are associated with several congenital malformations that lead to perinatal lethality suggesting that it plays a critical role in regulation of embryonic development. CEP55 has previously been studied as a cruci
Externí odkaz:
https://doaj.org/article/ca113dc23d2f42909600bf1b070bc7e6
Autor:
Elise Matuzelski, Alexandra Essebier, Lachlan Harris, Richard M. Gronostajski, Tracey J. Harvey, Michael Piper
Publikováno v:
BMC Research Notes, Vol 13, Iss 1, Pp 1-3 (2020)
Abstract Objective Nuclear Factor One X (NFIX) is a transcription factor expressed by neural stem cells within the developing mouse brain and spinal cord. In order to characterise the pathways by which NFIX may regulate neural stem cell biology withi
Externí odkaz:
https://doaj.org/article/a0ce9aefc2004715a118f6a8f2a8406f