Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Thomas K, Creson"'
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Publikováno v:
eLife, Vol 11 (2022)
Loss-of-function variants in SYNGAP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple cellul
Externí odkaz:
https://doaj.org/article/b2d529b24e8e40d98531dc9a6b1666ca
Autor:
Thomas K Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissiere, Murat Kilinc, Andres Jimenez-Gomez, Jimmy Lloyd Holder Jr, Jianrong Tang, Laura L Colgin, Courtney A Miller, Gavin Rumbaugh
Publikováno v:
eLife, Vol 8 (2019)
It remains unclear to what extent neurodevelopmental disorder (NDD) risk genes retain functions into adulthood and how they may influence disease phenotypes. SYNGAP1 haploinsufficiency causes a severe NDD defined by autistic traits, cognitive impairm
Externí odkaz:
https://doaj.org/article/10c02d4e26fb45a18f6fa15636bfbc56
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2632c3ea572bd76f5bc9d445cec22daf
https://doi.org/10.7554/elife.75707.sa2
https://doi.org/10.7554/elife.75707.sa2
Autor:
Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh
SummaryLoss-of-function variants in SYNAGP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efb18f076d5c40f09c226078126faafd
https://doi.org/10.1101/2021.12.05.471306
https://doi.org/10.1101/2021.12.05.471306
Autor:
Murat, Kilinc, Vineet, Arora, Thomas K, Creson, Camilo, Rojas, Aliza A, Le, Julie, Lauterborn, Brent, Wilkinson, Nicolas, Hartel, Nicholas, Graham, Adrian, Reich, Gemma, Gou, Yoichi, Araki, Àlex, Bayés, Marcelo, Coba, Gary, Lynch, Courtney A, Miller, Gavin, Rumbaugh
Publikováno v:
eLife. 11
Loss-of-function variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f5dbee7add81c55648ff7db937942db8
https://pubmed.ncbi.nlm.nih.gov/36285208
https://pubmed.ncbi.nlm.nih.gov/36285208
Autor:
Gemma Gou, Courtney A. Miller, Murat Kilinc, Nicholas A. Graham, Sabyasachi Maity, Gavin Rumbaugh, Yoichi Araki, Adrian Reich, Brent Wilkinson, Nicolas G. Hartel, Julie C. Lauterborn, Camilo Rojas, Aliza A. Le, Thomas K. Creson, Marcelo P. Coba, Gary Lynch, Àlex Bayés
SummarySynGAP-α1 is a splice variant of the neurodevelopmental disorder risk gene, SYNGAP1/Syngap1. α1 encodes the C-terminal PDZ binding motif (PBM) that promotes liquid-liquid phase separation, a candidate process for postsynaptic density organiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada8ed2e72f883ce1258bce0819fb451
Autor:
Gavin Rumbaugh, Thomas K. Creson, Massimiliano Aceti, Jason P. Lerch, Camilo Rojas, Murat Kilinc, Jacob Ellegood, Thomas Vaissière
Publikováno v:
Molecular and Cellular Neuroscience. 91:140-150
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. While there are hundreds of genetic risk factors for neurodevelopmental disorders (NDDs), this gene i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3ae145efb3cfecd6e4f3e6d914e8d8
https://doi.org/10.1016/j.mcn.2018.03.008
https://doi.org/10.1016/j.mcn.2018.03.008
Autor:
Jimmy Holder, Gavin Rumbaugh, Thomas Vaissière, Courtney A. Miller, Thomas K. Creson, Camilo Rojas, Jianrong Tang, Murat Kilinc, Andres Jimenez-Gomez, Ernie Hwaun, Laura Lee Colgin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95b2114bd3265a85f5a879503b35caf2
https://doi.org/10.7554/elife.46752.029
https://doi.org/10.7554/elife.46752.029
Autor:
Camilo Rojas, Murat Kilinc, Thomas K. Creson, Jimmy Holder, Gavin Rumbaugh, Thomas Vaissière, Courtney A. Miller, Ernie Hwaun, Jianrong Tang, Laura Lee Colgin, Andres Jimenez-Gomez
Publikováno v:
eLife
eLife, Vol 8 (2019)
eLife, Vol 8 (2019)
It remains unclear to what extent neurodevelopmental disorder (NDD) risk genes retain functions into adulthood and how they may influence disease phenotypes. SYNGAP1 haploinsufficiency causes a severe NDD defined by autistic traits, cognitive impairm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791a4993a6f73a3a2057611638788218
https://pubmed.ncbi.nlm.nih.gov/31025938
https://pubmed.ncbi.nlm.nih.gov/31025938
Autor:
Camilo Rojas, Ernie Hwaun, Thomas K. Creson, Laura Lee Colgin, Murat Kilinc, Gavin Rumbaugh, Jimmy Holder, Thomas Vaissière, Jianrong Tang, Courtney A. Miller
BackgroundNeurodevelopmental disorder (NDD) risk genes have pleiotropic biological functions, such as control over both developmental and non-developmental processes that influence disease-related phenotypes. Currently, it remains unclear how develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75aa5e4c3726a9db0202c5c23ffa1fd7
https://doi.org/10.1101/474965
https://doi.org/10.1101/474965