Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Blake A Creighton"'
Autor:
Blake A Creighton, Simone Afriyie, Deepa Ajit, Cristine R Casingal, Kayleigh M Voos, Joan Reger, April M Burch, Eric Dyne, Julia Bay, Jeffrey K Huang, ES Anton, Meng-Meng Fu, Damaris N Lorenzo
Publikováno v:
eLife, Vol 10 (2021)
Variants in the high confident autism spectrum disorder (ASD) gene ANK2 target both ubiquitously expressed 220 kDa ankyrin-B and neurospecific 440 kDa ankyrin-B (AnkB440) isoforms. Previous work showed that knock-in mice expressing an ASD-linked Ank2
Externí odkaz:
https://doaj.org/article/617903977b8c47b6bcec06f59021d6f8
Autor:
April M Burch, Deepa Ajit, Damaris N Lorenzo, Meng-Meng Fu, Jeff Huang, Eric Dyne, Joan Reger, Kayleigh M Voos, Eva S. Anton, Blake A Creighton, Simone Afriyie, Cristine R Casingal, Julia Bay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb10b2eb42d8364cdf04d8f30874d5d7
https://doi.org/10.7554/elife.69815.sa2
https://doi.org/10.7554/elife.69815.sa2
Autor:
Damaris N Lorenzo, April M Burch, Kayleigh M Voos, Eva S. Anton, Deepa Ajit, Eric Dyne, Meng-Meng Fu, Jeff Huang, Julia Bay, Cristine R Casingal, Joan Reger, Blake A Creighton, Simone Afriyie
Publikováno v:
eLife
eLife, Vol 10 (2021)
eLife, Vol 10 (2021)
Variants in the high confident autism spectrum disorder (ASD) gene ANK2 target both ubiquitously expressed 220 kDa ankyrin-B and neurospecific 440 kDa ankyrin-B (AnkB440) isoforms. Previous work showed that knock-in mice expressing an ASD-linked Ank2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05575bdf0529709b5c0e1c0381ead40f
https://escholarship.org/uc/item/0182v11f
https://escholarship.org/uc/item/0182v11f
Autor:
Jessica Becker, Julia Bay, Deepa Ajit, Sheryl S. Moy, Katja Kloth, Michael T. Zimmermann, Pilar Cacheiro, Ingrid M.B.H. van de Laar, Richard H. van Jaarsveld, Queenie K-G Tan, Adriana S. Beltran, Allyn McConkie-Rosell, Keith A. Breau, Laura Schultz-Rogers, Deike Weiss, Damaris N Lorenzo, Marie T. McDonald, Robert Jech, Paul R. Mark, Erin Torti, Richard E. Person, Benjamin Cogné, Renske Oegema, Eva H. Brilstra, Robert Stratton, Koen L.I. van Gassen, Reginald James Edwards, Rebecca C. Spillmann, Michael C. Stankewich, Amy Kritzer, Liset Falcon Rodriguez, Parul Jayakar, Joseph T. Shieh, Margot A. Cousin, Elizabeth A. Normand, Jennifer L. Kemppainen, Jennifer MacKenzie, Hartmut Engels, Marjon van Slegtenhorst, Evangeline Kurtz-Nelson, Tianyun Wang, Yue Si, Damian Smedley, Bertrand Isidor, Blake A Creighton, Vimla Aggarwal, Michael Zech, Alvaro A. Beltran, Stefan Aretz, Brenda Temple, Simone Afriyie, Sarah E McKeown, Louise Bier, Tatjana Bierhals, Grace Yoon, Juliane Winkelmann, Swarnendu Tripathi, Brendan C. Lanpher, Amy Blevins, Pavel N. Pichurin, Eric W. Klee, Kathryn M. Harper, Cecilia Fairley, Lauren Gunderson, Ingo Helbig, Sruthi Dontu, Kirsten Cremer, Raphael Bernier, Helen V. Firth, Gretchen Parsons, Lorena J. Munoz, Evan E. Eichler, Alison S May, Grazia M.S. Mancini
Publikováno v:
Nature Genetics, 53(7), 1006-1021. Nature Publishing Group
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4874221589b63cb383656f262aebe07d
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175a
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175a
Variants in the high confident autism spectrum disorder gene ANK2 target both ubiquitously expressed 220-kDa ankyrin-B and neurospecific 440-kDa ankyrin-B (AnkB440) isoforms. Previous work showed that knock-in mice expressing an ASD-linked Ank2 varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6aeabe67e8174b65982a5d461aa9eb96
https://doi.org/10.1101/2021.05.03.442401
https://doi.org/10.1101/2021.05.03.442401
Autor:
Louise Bier, Grace Yoon, Paul R. Mark, Brendan C. Lanpher, Grazia M.S. Mancini, Jessica Becker, Juliane Winkelmann, Sheryl S. Moy, Rebecca C. Spillmann, Alison S May, Eric W. Klee, Michael T. Zimmermann, Amy Kritzer, Tatjana Bierhals, Renske Oegema, Michael Zech, Pilar Cacheiro, Queenie K.-G. Tan, Deepa Ajit, Richard H. van Jaarsveld, Swarnendu Tripathi, Hartmut Engels, Parul Jayakar, Kathryn M. Harper, Evan E. Eichler, Evangeline Kurtz-Nelson, Tianyun Wang, Blake A Creighton, Jennifer L. Kemppainen, Jennifer MacKenzie, Cecilia Fairley, Keith A. Breau, Robert Stratton, Deike Weiss, Stefan Aretz, Benjamin Cogné, Richard E. Person, Vimla Aggarwal, Brenda Temple, Marie T. McDonald, Yue Si, Robert Jech, Elizabeth A. Normand, Sarah E McKeown, Koen L.I. van Gassen, Lauren Gunderson, Ingrid M.B.H. van de Laar, Ingo Helbig, Joseph T. Shieh, Margot A. Cousin, Marjon van Slegtenhorst, Damian Smedley, Sruthi Dontu, Kirsten Cremer, Laura Schultz-Rogers, Damaris N Lorenzo, Michael C. Stankewich, Katja Kloth, Erin Torti, Allyn McConkie-Rosell, Eva H. Brilstra, Amy Blevins, Pavel N. Pichurin, Bertrand Isidor, Raphael Bernier, Helen V. Firth, Gretchen Parsons
SPTBN1 encodes βII-spectrin, the ubiquitously expressed member of the β-spectrin family that forms micrometer-scale networks associated with plasma membranes. βII-spectrin is abundantly expressed in the brain, where it is essential for neuronal de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e60206bd3c998406bd51183fbe28a710
https://doi.org/10.1101/2020.08.31.20184481
https://doi.org/10.1101/2020.08.31.20184481