PMC Links for OMIM (Select 611223) - PMC

Select item 68025131.

SIAH1 ubiquitin ligase mediates ubiquitination and degradation of Akt3 in neural development

Hyo Rim Ko, Eun-Ju Jin, Sang Bae Lee, Chung Kwon Kim, Taegwan Yun, Sung-Woo Cho, Kye Won Park, Jee-Yin Ahn

J Biol Chem. 2019 Oct 18; 294(42): 15435–15445. Published online 2019 Aug 30. doi: 10.1074/jbc.RA119.009618

PMCID:: PMC6802513

Select item 44179422.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Jeong Ho Lee, My Huynh, Jennifer L Silhavy, Sangwoo Kim, Tracy Dixon-Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J Hill, Adrienne Collazo, Vincent Funari, Carsten Russ, Stacey B Gabriel, Gary W Mathern, Joseph G Gleeson

Nat Genet. Author manuscript; available in PMC 2015 May 4.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 941–945. Published online 2012 Jun 24. doi: 10.1038/ng.2329

PMCID:: PMC4417942

Abstract Article PDF–1.3M

Select item 41486863.

Sequence analysis of mutations and translocations across breast cancer subtypes

Shantanu Banerji, Kristian Cibulskis, Claudia Rangel-Escareno, Kristin K. Brown, Scott L. Carter, Abbie M. Frederick, Michael S. Lawrence, Andrey Y. Sivachenko, Carrie Sougnez, Lihua Zou, Maria L. Cortes, Juan C. Fernandez-Lopez, Shouyong Peng, Kristin G. Ardlie, Daniel Auclair, Veronica Bautista-Piña, Fujiko Duke, Joshua Francis, Joonil Jung, Antonio Maffuz-Aziz, Robert C. Onofrio, Melissa Parkin, Nam H. Pho, Valeria Quintanar-Jurado, Alex H. Ramos, Rosa Rebollar-Vega, Sergio Rodriguez-Cuevas, Sandra L. Romero-Cordoba, Steven E. Schumacher, Nicolas Stransky, Kristin M. Thompson, Laura Uribe-Figueroa, Jose Baselga, Rameen Beroukhim, Kornelia Polyak, Dennis C. Sgroi, Andrea L. Richardson, Gerardo Jimenez-Sanchez, Eric S. Lander, Stacey B. Gabriel, Levi A. Garraway, Todd R. Golub, Jorge Melendez-Zajgla, Alex Toker, Gad Getz, Alfredo Hidalgo-Miranda, Matthew Meyerson

Nature. Author manuscript; available in PMC 2014 Aug 29.

Published in final edited form as: Nature. 2012 Jun 21; 486(7403): 405–409. Published online 2012 Jun 20. doi: 10.1038/nature11154

PMCID:: PMC4148686

Abstract Article PDF–466K

Select item 34605514.

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess Christina Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony Hill, R. Sean Hill, Brenda J. Barry, Blaise F.D. Bourgeois, James J. Riviello, A. James Barkovich, Peter M. Black, Keith L. Ligon, Christopher A. Walsh

Neuron. Author manuscript; available in PMC 2012 Oct 12.

Published in final edited form as: Neuron. 2012 Apr 12; 74(1): 41–48. doi: 10.1016/j.neuron.2012.03.010

PMCID:: PMC3460551

Abstract Article PDF–2.3M

Select item 34088135.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St-Onge, Jeremy A. Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas R. Ward, Hailly E. Butler, Nancy A. Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie L. Lauzon, Angela E. Lin, Grazia M. S. Mancini, Wendy S. Meschino, James D. Reggin, Anand K. Saggar, Tally Lerman-Sagie, Gökhan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Jr., Kym M. Boycott, William B. Dobyns

Nat Genet. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 934–940. Published online 2012 Jun 24. doi: 10.1038/ng.2331

PMCID:: PMC3408813

Abstract Article PDF–816K

Select item 30331896.

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

Satoko Tokuda, Connie L. Mahaffey, Bobby Monks, Christian R. Faulkner, Morris J. Birnbaum, Steve C. Danzer, Wayne N. Frankel

Hum Mol Genet. 2011 Mar 1; 20(5): 988–999. Published online 2010 Dec 15. doi: 10.1093/hmg/ddq544

PMCID:: PMC3033189

Abstract Article PDF–457K

Select item 19507987.

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D. C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Dobyns, Graeme C. M. Black

Am J Hum Genet. 2007 Aug; 81(2): 292–303. Published online 2007 Jun 13. doi: 10.1086/519999

PMCID:: PMC1950798

Abstract Article PDF–499K

Select item 5493788.

Role for Akt3/Protein Kinase Bγ in Attainment of Normal Brain Size

Rachael M. Easton, Han Cho, Kristin Roovers, Diana W. Shineman, Moshe Mizrahi, Mark S. Forman, Virginia M.-Y. Lee, Matthias Szabolcs, Ron de Jong, Tilman Oltersdorf, Thomas Ludwig, Argiris Efstratiadis, Morris J. Birnbaum

Mol Cell Biol. 2005 Mar; 25(5): 1869–1878. doi: 10.1128/MCB.25.5.1869-1878.2005

PMCID:: PMC549378

Abstract Article PDF–449K

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