PMC Links for OMIM (Select 608947) - PMC

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Items: 4

Select item 64894131.

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Thomas Arbogast, Parisa Razaz, Jacob Ellegood, Spencer U McKinstry, Serkan Erdin, Benjamin Currall, Tanya Aneichyk, Jason P Lerch, Lily R Qiu, Ramona M Rodriguiz, R M Henkelman, Michael E Talkowski, William C Wetsel, Christelle Golzio, Nicholas Katsanis

Hum Mol Genet. 2019 May 1; 28(9): 1474–1486. Published online 2018 Dec 26. doi: 10.1093/hmg/ddy436

PMCID:: PMC6489413

Abstract Article PDF–6.8M

Select item 57870332.

Kctd13 deletion reduces synaptic transmission via increased RhoA

Christine Ochoa Escamilla, Irina Filonova, Angela K. Walker, Zhong X. Xuan, Roopashri Holehonnur, Felipe Espinosa, Shunan Liu, Summer B. Thyme, Isabel A. López-García, Dorian B. Mendoza, Noriyoshi Usui, Jacob Ellegood, Amelia J. Eisch, Genevieve Konopka, Jason P. Lerch, Alexander F. Schier, Haley E. Speed, Craig M. Powell

Nature. Author manuscript; available in PMC 2018 Nov 9.

Published in final edited form as: Nature. 2017 Nov 9; 551(7679): 227–231. Published online 2017 Nov 1. doi: 10.1038/nature24470

PMCID:: PMC5787033

Abstract Article PDF–1.9M

Select item 33661153.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV

Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella, Atsushi Kamiya, Jacques S Beckmann, Nicholas Katsanis

Nature. Author manuscript; available in PMC 2012 Nov 16.

Published in final edited form as: Nature. 2012 May 17; 485(7398): 363–367. Published online 2012 May 16. doi: 10.1038/nature11091