Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Carole, Shum"'
Autor:
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg, Cidi Chen, Elizabeth D. Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W. Scherer
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 638-647 (2024)
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas nucleases and human induced pluripotent stem cell (iPSC) technology can reveal deep insight into the genetic and molecular bases of human biology and disease. Undesired editing ou
Externí odkaz:
https://doaj.org/article/fce05ccaaede435b84e6e74474bfe7f5
Autor:
Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C. Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L. Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P. Joel Ross, Clarrisa A. Bradley, James Ellis, Stephen W. Scherer
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD, or a sub-cl
Externí odkaz:
https://doaj.org/article/ad5d028dd05343348ea7357073f240f8
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D’abate, Clarissa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma’n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants. With the aim of generating an unprecedented resource
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b717e0844196ee000bbf7582208abb19
https://doi.org/10.1101/2022.05.05.22274031
https://doi.org/10.1101/2022.05.05.22274031
Autor:
Anjali Bhat, Haritz Irizar, Amalie C.M. Couch, Pooja Raval, Rodrigo R.R. Duarte, Lucia Dutan Polit, Bjorn Hanger, Timothy Powell, P.J. Michael Deans, Carole Shum, Roland Nagy, Grainne McAlonan, Conrad O. Iyegbe, Jack Price, Elvira Bramon, Sagnik Bhattacharyya, Anthony C. Vernon, Deepak P. Srivastava
Publikováno v:
Bhat, A, Irizar, H, Couch, A, Raval, P, Duarte, R R R, Dutan Polit, L, Hanger, B, Powell, T, Michael Deans, P J, Shum, C, Nagy, R, McAlonan, G, Iyegbe, C O, Price, J, Bramon, E, Bhattacharyya, S, Vernon, A C & Srivastava, D P 2022, ' Attenuated transcriptional response to pro-inflammatory cytokines in schizophrenia hiPSC-derived neural progenitor cells ', Brain, Behavior, and Immunity, vol. 105, pp. 82-97 . https://doi.org/10.1016/j.bbi.2022.06.010
Maternal immune activation (MIA) during prenatal development is an environmental risk factor for psychiatric disorders including schizophrenia (SZ). Converging lines of evidence from human and animal model studies suggest that elevated cytokine level
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f87714f84abda0eb04878775811511
https://pubmed.ncbi.nlm.nih.gov/35716830
https://pubmed.ncbi.nlm.nih.gov/35716830
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D'Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma'n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Publikováno v:
Cell. 185:4409-4427.e18
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ad9e408a13971a4d30b81a0b6b80b6
https://doi.org/10.1016/j.cell.2022.10.009
https://doi.org/10.1016/j.cell.2022.10.009
Autor:
Agnes L Nishimura, Carole Shum, Emma L Scotter, Amr Abdelgany, Valentina Sardone, Jamie Wright, Youn-Bok Lee, Han-Jou Chen, Bilada Bilican, Monica Carrasco, Tom Maniatis, Siddharthan Chandran, Boris Rogelj, Jean-Marc Gallo, Christopher E Shaw
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e91269 (2014)
TDP-43 is found in cytoplasmic inclusions in 95% of amyotrophic lateral sclerosis (ALS) and 60% of frontotemporal lobar degeneration (FTLD). Approximately 4% of familial ALS is caused by mutations in TDP-43. The majority of these mutations are found
Externí odkaz:
https://doaj.org/article/fa42f11aa6034af69f65a96cb5723752
Autor:
Maria Andreina Mendez, Roland Nagy, David Skuse, Eva P. Valencia-Alarcón, Jamie Horder, Irene Lee, Frances Flinter, Grainne M. McAlonan, Simon Baron-Cohen, Declan G. Murphy, Kamila M. Jozwik, Jason S. Carroll, Daniel H. Geschwind, Lucia Dutan, Paulina Nowosiad, Dwaipayan Adhya, Jack Price, Vivek Swarup, Carole Shum, Eva Loth, Deepak Srivastava
Publikováno v:
Adhya, D, Swarup, V, Nagy, R, Dutan Polit, L, Shum, C, Valencia-Alarcón, E, Jozwik, K, Mendez Hernandez, M, Horder, J, Loth, E, Nowosiad, P, Lee, I, Skuse, D, Flinter, F, Murphy, D, McAlonan, G, Geschwind, D H, Price, J, Carroll, J, Srivastava, D & Baron-Cohen, S 2020, ' Atypical neurogenesis in induced pluripotent stem cell (iPSC) from autistic individuals ', Biological psychiatry . https://doi.org/10.1016/j.biopsych.2020.06.014
Biological Psychiatry
Biological Psychiatry
BackgroundAutism is a heterogenous collection of disorders with a complex molecular underpinning. Evidence from post-mortem brain studies using adult brains have indicated that early prenatal development may be altered in autism. Induced pluripotent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d1d7df9dd39a663e7d9cfbddb68f6b
https://www.repository.cam.ac.uk/handle/1810/307568
https://www.repository.cam.ac.uk/handle/1810/307568
Autor:
Samuel E. Taylor, Lucia Dutan, Laura C. Andreae, Sagnik Bhattacharyya, Deepak Srivastava, Noel J. Buckley, Carole Shum, Jack Price, Ruth D. Taylor, Katherine Warre-Cornish, Emily Annuario
Publikováno v:
Shum, C, Dutan, L, Annuario, E, Warre-Cornish, K, Taylor, S E, Taylor, R D, Andreae, L C, Buckley, N J, Price, J, Bhattacharyya, S & Srivastava, D P 2020, ' Δ 9-tetrahydrocannabinol and 2-AG decreases neurite outgrowth and differentially affects ERK1/2 and Akt signaling in hiPSC-derived cortical neurons ', Molecular and Cellular Neuroscience, vol. 103, 103463 . https://doi.org/10.1016/j.mcn.2019.103463
Endocannabinoids regulate different aspects of neurodevelopment. In utero exposure to the exogenous psychoactive cannabinoid Δ9-tetrahydrocannabinol (Δ9-THC), has been linked with abnormal cortical development in animal models. However, much less i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4df105b5023a37b446741b8654cb892
https://doi.org/10.1016/j.mcn.2019.103463
https://doi.org/10.1016/j.mcn.2019.103463
Autor:
Carole, Shum, Lucia, Dutan, Emily, Annuario, Katherine, Warre-Cornish, Samuel E, Taylor, Ruth D, Taylor, Laura C, Andreae, Noel J, Buckley, Jack, Price, Sagnik, Bhattacharyya, Deepak P, Srivastava
Publikováno v:
Molecular and cellular neurosciences. 103
Endocannabinoids regulate different aspects of neurodevelopment. In utero exposure to the exogenous psychoactive cannabinoid Δ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67f69e53829621f1185b8a971781491d
https://pubmed.ncbi.nlm.nih.gov/31917333
https://pubmed.ncbi.nlm.nih.gov/31917333
Autor:
Carole Shum, Lucia Dutan, Emily Annuario, Katherine Warre-Cornish, Samuel E. Taylor, Ruth D. Taylor, Laura C. Andreae, Noel J. Buckley, Jack Price, Sagnik Bhattacharyya, Deepak P. Srivastava
Endocannabinoids regulate different aspects of neurodevelopment. In utero exposure to the exogenous psychoactive cannabinoid Δ9-tetrahydrocannabinol (Δ9-THC), has been linked with abnormal cortical development in animal models. However, much less i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02da6e06228ea694ccbb0ab2df01a6b
https://doi.org/10.1101/440909
https://doi.org/10.1101/440909