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ampar (2) 2
camk2 (2) 2
camk2a (2) 2
camk2b (2) 2
de novo mutations (2) 2
intellectual disability (2) 2
life sciences (2) 2
nmdar (2) 2
synaptic plasticity (2) 2
alpha-camkii (1) 1
animals (1) 1
article (1) 1
autophosphorylation (1) 1
brain - pathology (1) 1
calcium-calmodulin-dependent protein kinase type 2 - genetics (1) 1
cancer (1) 1
cell line (1) 1
epilepsy (1) 1
exome - genetics (1) 1
female (1) 1
genetics & heredity (1) 1
glutamic acid - genetics (1) 1
grin2a mutations (1) 1
hek293 cells (1) 1
human health and pathology (1) 1
humans (1) 1
ii isoforms (1) 1
impact (1) 1
in-vivo (1) 1
index medicus (1) 1
intellectual disability - genetics (1) 1
long-term potentiation (1) 1
male (1) 1
mice (1) 1
mice, inbred c57bl (1) 1
mutation - genetics (1) 1
neurons - pathology (1) 1
phosphorylation - genetics (1) 1
region-specific requirements (1) 1
signal transduction - genetics (1) 1
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1. Full Text De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice,... 
CAMK2B | CAMK2A | de novo mutations | CAMK2 | NMDAR | synaptic plasticity | AMPAR | intellectual disability | IMPACT | GRIN2A MUTATIONS | II ISOFORMS | IN-VIVO | GENETICS & HEREDITY | LONG-TERM POTENTIATION | EPILEPSY | SYNAPTIC PLASTICITY | AUTOPHOSPHORYLATION | REGION-SPECIFIC REQUIREMENTS | ALPHA-CAMKII | Cell Line | Neurons - pathology | Glutamic Acid - genetics | Humans | Mice, Inbred C57BL | Male | Signal Transduction - genetics | Mutation - genetics | Intellectual Disability - genetics | Calcium-Calmodulin-Dependent Protein Kinase Type 2 - genetics | Exome - genetics | Phosphorylation - genetics | Animals | HEK293 Cells | Brain - pathology | Female | Mice | Life Sciences | Human health and pathology
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2. Full Text De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
by Küry, S and Woerden, Geeske and Besnard, T and Proietti Onori, M and Latypova, X and Towne, M.C and Cho, Megan T and Prescott, Trine and Ploeg, M.A and Sanders, S and Stessman, H.A.F and Pujol, A and Distel, Ben and Robak, L.A and Bernstein, J.A and Denommé-Pichon, A.-S and Lesca, G and Sellars, E.A and Berg, J and Carré, W and Busk, ØL and Bon, Bregje and Waugh, J.L and Deardorff, Matthew and Hoganson, G.E and Bosanko, K.B and Johnson, D.S and Dabir, T and Holla, ØL and Sarkar, A and Tveten, K and de Bellescize, J and Braathen, G.J and Terhal, Paulien and Grange, D.K and Haeringen, Arie and Lam, C and Mirzaa, Ghayda and Burton, J and Bhoj, E.J and Douglas, J and Santani, A.B and Nesbitt, A.I and Helbig, K.L and Anews, M.V and Begtrup, A and Tang, S and van Gassen, Koen L.I and Juusola, J and Foss, K and Enns, Gregory and Moog, U and Hinderhofer, K and Paramasivam, N and Lincoln, S and Kusako, B.H and Lindenbaum, P and Charpentier, E and Nowak, C.B and Cherot, E and Simonet, T and Ruivenkamp, Claudia and Hahn, Sihoun and Brownstein, C.A and Xia, F and Schmitt, S and Deb, W and Bonneau, Dominique and Nizon, M and Quinquis, D and Chelly, Jamel and Rudolf, G and Sanlaville, Damien and Parent, P and Gilbert-Dussardier, B and Toutain, Annick and Sutton, V. Reid and Thies, J and Peart-Vissers, L.E.L.M and Boisseau, P and Vincent, M and Grabrucker, A.M and Dubourg, C and Tan, W.-H and Verbeek, Nienke and Granzow, M and Santen, Gijs and Shendure, Jay and Isidor, Bertrand and Pasquier, L and Redon, Richard and Yang, Y and State, Matthew and Kleefstra, Tjitske and Cogné, B and Petrovski, S and Retterer, Kyle and Eichler, Evan and Rosenfeld, Jill and Agrawal, P.B and ...
American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
textabstractCalcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic... 
CAMK2B | CAMK2A | de novo mutations | CAMK2 | NMDAR | synaptic plasticity | AMPAR | intellectual disability | Life Sciences | Cancer
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