Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Karun K Singh"'
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
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-21 (2023)
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder caused by genetic or environmental perturbations during early development. Diagnoses are dependent on the identification of behavioral abnormalities that likely emerge w
Externí odkaz:
https://doaj.org/article/3c6a9ae603df440fae5454b7cf7ae8d8
Autor:
Chad O. Brown, Jarryll A. Uy, Nadeem Murtaza, Elyse Rosa, Alexandria Alfonso, Biren M. Dave, Savannah Kilpatrick, Annie A. Cheng, Sean H. White, Stephen W. Scherer, Karun K. Singh
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2024)
SCN2A is an autism spectrum disorder (ASD) risk gene and encodes a voltage-gated sodium channel. However, the impact of ASD-associated SCN2A de novo variants on human neuron development is unknown. We studied SCN2A using isogenic SCN2A–/– induced
Externí odkaz:
https://doaj.org/article/f6fe74ea31354341815d8ba00404d414
Publikováno v:
Canadian Journal of Pain, Vol 4, Iss 4, Pp 37-44 (2020)
Background Pain is a complex neurobiological response with a multitude of causes; however, patients with autism spectrum disorder (ASD) often report chronic pain with no known etiology. Recent research has been aimed toward identifying the causal mec
Externí odkaz:
https://doaj.org/article/d0936ba66c694eaa8927dde8d37e8346
Autor:
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Publikováno v:
Molecular Psychiatry. 28:1747-1769
Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microdeletion mou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60be94dfeb8154f121984bc960016c50
https://doi.org/10.1038/s41380-022-01937-5
https://doi.org/10.1038/s41380-022-01937-5
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:
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
Autor:
Jong-Hee Lee, Ryan R. Mitchell, Jamie D. McNicol, Zoya Shapovalova, Sarah Laronde, Borko Tanasijevic, Chloe Milsom, Fanny Casado, Aline Fiebig-Comyn, Tony J. Collins, Karun K. Singh, Mickie Bhatia
Publikováno v:
Cell Reports, Vol 11, Iss 9, Pp 1367-1376 (2015)
The clinical applicability of direct cell fate conversion depends on obtaining tissue from patients that is easy to harvest, store, and manipulate for reprogramming. Here, we generate induced neural progenitor cells (iNPCs) from neonatal and adult pe
Externí odkaz:
https://doaj.org/article/b11aa922158d4166b81be9280ad2f0aa
Autor:
Melad Henis, Tabitha Rücker, Robin Scharrenberg, Melanie Richter, Lucas Baltussen, Durga Praveen Meka, Birgit Schwanke, Nagammal Neelagandan, Danie Daaboul, Nadeem Murtaza, Christoph Krisp, Sönke Harder, Hartmut Schlüter, Matthias Kneussel, Irm Hermans-Borgmeyer, Joris de Wit, Karun K. Singh, Kent E. Duncan, Froylan Calderón de Anda
Microdeletions in the 16p11.2 region of the human genome are frequently associated with autism spectrum disorders (ASDs), but how these genomic rearrangements cause ASD remains unclear. Here, we reveal that TAOK2β, a protein isoform encoded by the h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e448c12bfba4de860c37afbe5605911c
https://doi.org/10.1101/2022.08.22.504812
https://doi.org/10.1101/2022.08.22.504812
Publikováno v:
Journal of Molecular Evolution
Sexual dimorphism or sex bias in diseases and mental disorders have two biological causes: sexual selection and sex hormones. We review the role of sexual selection theory and bring together decades of molecular studies on the variation and evolution
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddfac287ec7f1bc01a0c411515394eaa
https://doi.org/10.1007/s00239-021-09999-9
https://doi.org/10.1007/s00239-021-09999-9