Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Vickie Kwan"'
Autor:
Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1211-1225 (2018)
Summary: Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resou
Externí odkaz:
https://doaj.org/article/ed565f4bc9134ec99bc3339f9bae9c35
Autor:
Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Wei Wei, Alina Piekna, Tadeo Thompson, Jennifer L Howe, Leon Chalil, Vickie Kwan, Susan Walker, Peter Pasceri, Frederick P Roth, Ryan KC Yuen, Karun K Singh, James Ellis, Stephen W Scherer
Publikováno v:
eLife, Vol 8 (2019)
Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants t
Externí odkaz:
https://doaj.org/article/985021e3ed064ed49d8ce14418bde9a2
Autor:
Vickie Kwan, Durga Praveen Meka, Sean H. White, Claudia L. Hung, Nicholas T. Holzapfel, Susan Walker, Nadeem Murtaza, Brianna K. Unda, Birgit Schwanke, Ryan K.C. Yuen, Kendra Habing, Chloe Milsom, Kristin J. Hope, Ray Truant, Stephen W. Scherer, Froylan Calderon de Anda, Karun K. Singh
Publikováno v:
Cell Reports, Vol 17, Iss 7, Pp 1892-1904 (2016)
The development of neural connectivity is essential for brain function, and disruption of this process is associated with autism spectrum disorders (ASDs). DIX domain containing 1 (DIXDC1) has previously been implicated in neurodevelopmental disorder
Externí odkaz:
https://doaj.org/article/3a5ecf5bb9b64b5cab80d85b37eba2ff
Publikováno v:
Neural Plasticity, Vol 2016 (2016)
Cortical inhibitory neurons play crucial roles in regulating excitatory synaptic networks and cognitive function and aberrant development of these cells have been linked to neurodevelopmental disorders. The secreted neurotrophic factor Neuregulin-1 (
Externí odkaz:
https://doaj.org/article/b27b59ce166a46aab267ec37af1e986d
Publikováno v:
Journal of Thrombosis and Thrombolysis. 53:690-696
Thrombotic antiphospholipid syndrome (TAPS) is an autoimmune disorder that manifests with venous thromboembolism (VTE) and/or arterial thromboembolism (ATE) in the presence of persistent antiphospholipid antibodies (aPLs). Recent trials have failed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fab05fc4bce91f140407493e4ac96a57
https://doi.org/10.1007/s11239-021-02578-1
https://doi.org/10.1007/s11239-021-02578-1
Autor:
Vickie Kwan, Sansi Xing, Elyse Rosa, Nadeem Murtaza, Kanwaldeep Singh, Nicholas Holzapfel, Tobias Berg, Karun K. Singh, Yu Lu
Publikováno v:
Journal of Proteome Research. 20:1052-1062
DIX-domain containing 1 (Dixdc1) is an important regulator of neuronal development including cortical neurogenesis, neuronal migration and synaptic connectivity, and sequence variants in the gene have been linked to autism spectrum disorders (ASDs).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2970858c2b9ea7ba80f48aadd7e2967d
https://doi.org/10.1021/acs.jproteome.0c00896
https://doi.org/10.1021/acs.jproteome.0c00896
Autor:
Virginia B. Mattis, Claudia L.K. Hung, James Victor Giordano, Mina Falcone, Jonathan D. Schertzer, Tammy Gillis, Vanessa C. Wheeler, Ray Truant, Tamara Maiuri, Ryan Gotesman, Laura E Bowie, Karun K. Singh, Vickie Kwan, Susie Son, Trevor C. Lau
Publikováno v:
Molecular Biology of the Cell
The huntingtin protein participates in several cellular processes that are disrupted when the polyglutamine tract is expanded beyond a threshold of 37 CAG DNA repeats in Huntington’s disease (HD). Cellular biology approaches to understand these fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d76c12fcccd5c60b1ea835d5ab51fb69
https://doi.org/10.1091/mbc.e18-09-0590
https://doi.org/10.1091/mbc.e18-09-0590
Autor:
Jennifer L. Howe, Vickie Kwan, Kirill Zaslavsky, James Ellis, Anath C. Lionel, Gaganjot Kaur, Deivid C. Rodrigues, Zhuozhi Wang, Daniele Merico, Muhammad Faheem, Alina Piekna, Ryan K. C. Yuen, Karun K. Singh, Bhooma Thiruvahindrapuram, Roumiana Alexandrova, Susan Walker, Giovanna Pellecchia, Eric Deneault, Stephen W. Scherer, P. Joel Ross, Sean H. White, Peter Pasceri, Wei Wei
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1211-1225 (2018)
Stem Cell Reports
Stem Cell Reports
Summary Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc41aaecc8cec3f42dc37670dccd5f6e
https://doi.org/10.1016/j.stemcr.2019.01.008
https://doi.org/10.1016/j.stemcr.2019.01.008
Publikováno v:
Blood. 136:16-17
Introduction: Thrombotic Antiphospholipid syndrome (TAPS) is an autoimmune condition where venous thromboembolism (VTE) and/or arterial thromboembolism (ATE) occurs in the presence of antiphospholipid antibodies (aPLs). TAPS is traditionally managed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69695a136a0556f01dc0318a0506f62f
https://doi.org/10.1182/blood-2020-142842
https://doi.org/10.1182/blood-2020-142842
Autor:
Song Sun, Susan Walker, James Ellis, Alina Piekna, Wei Wei, Jennifer L. Howe, Ryan K. C. Yuen, Leon Chalil, Frederick P. Roth, Peter Pasceri, Deivid C. Rodrigues, Eric Deneault, Stephen W. Scherer, Muhammad Faheem, Karun K. Singh, Sean H. White, Tadeo Thompson, Vickie Kwan
Publikováno v:
eLife, Vol 8 (2019)
eLife
eLife
Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2856f4df53fc39c545cae4b30fc7c1
https://doi.org/10.7554/elife.40092
https://doi.org/10.7554/elife.40092