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Literature DB >> 22907262

Genetics: mutations in mTOR pathway linked to megalencephaly syndromes.

Pasquale Striano, Federico Zara.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2012 PMID： 22907262 DOI： 10.1038/nrneurol.2012.178

Source DB: PubMed Journal: Nat Rev Neurol ISSN： 1759-4758 Impact factor: 42.937

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10 in total

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

Authors: 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
Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330

Review 2. Targeting PI3 kinase/AKT/mTOR signaling in cancer.

Authors: Karen Sheppard; Kathryn M Kinross; Benjamin Solomon; Richard B Pearson; Wayne A Phillips
Journal: Crit Rev Oncog Date: 2012

Review 3. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis.

Authors: David Neal Franz
Journal: Expert Rev Anticancer Ther Date: 2011-08 Impact factor: 4.512

Review 4. Epidemiology of hemimegalencephaly: a case series and review.

Authors: Brad T Tinkle; Elizabeth K Schorry; David N Franz; Kerry R Crone; Howard M Saal
Journal: Am J Med Genet A Date: 2005-12-15 Impact factor: 2.802

5. Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors: 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
Journal: Neuron Date: 2012-04-12 Impact factor: 17.173

6. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Authors: Marjorie J Lindhurst; Julie C Sapp; Jamie K Teer; Jennifer J Johnston; Erin M Finn; Kathryn Peters; Joyce Turner; Jennifer L Cannons; David Bick; Laurel Blakemore; Catherine Blumhorst; Knut Brockmann; Peter Calder; Natasha Cherman; Matthew A Deardorff; David B Everman; Gretchen Golas; Robert M Greenstein; B Maya Kato; Kim M Keppler-Noreuil; Sergei A Kuznetsov; Richard T Miyamoto; Kurt Newman; David Ng; Kevin O'Brien; Steven Rothenberg; Douglas J Schwartzentruber; Virender Singhal; Roberto Tirabosco; Joseph Upton; Shlomo Wientroub; Elaine H Zackai; Kimberly Hoag; Tracey Whitewood-Neal; Pamela G Robey; Pamela L Schwartzberg; Thomas N Darling; Laura L Tosi; James C Mullikin; Leslie G Biesecker
Journal: N Engl J Med Date: 2011-07-27 Impact factor: 91.245

7. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Authors: Ghayda M Mirzaa; Robert L Conway; Karen W Gripp; Tally Lerman-Sagie; Dawn H Siegel; Linda S deVries; Dorit Lev; Nancy Kramer; Elizabeth Hopkins; John M Graham; William B Dobyns
Journal: Am J Med Genet A Date: 2012-01-06 Impact factor: 2.802

Review 8. Macrocephaly syndromes.

Authors: Ann Haskins Olney
Journal: Semin Pediatr Neurol Date: 2007-09 Impact factor: 1.636

Review 9. Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies.

Authors: Michael Wong
Journal: Epilepsia Date: 2009-10-08 Impact factor: 5.864

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

Authors: 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; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Jay Shendure; John M Graham; Kym M Boycott; William B Dobyns
Journal: Nat Genet Date: 2012-06-24 Impact factor: 38.330

10 in total

7 in total

1. NPAS1 represses the generation of specific subtypes of cortical interneurons.

Authors: Amelia Stanco; Ramón Pla; Daniel Vogt; Yiran Chen; Shyamali Mandal; Jamie Walker; Robert F Hunt; Susan Lindtner; Carolyn A Erdman; Andrew A Pieper; Steven P Hamilton; Duan Xu; Scott C Baraban; John L R Rubenstein
Journal: Neuron Date: 2014-11-20 Impact factor: 17.173

Review 2. Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.

Authors: Ethan M Goldberg; Douglas A Coulter
Journal: Nat Rev Neurosci Date: 2013-04-18 Impact factor: 34.870

Review 3. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.

Authors: Piero Pavone; Andrea D Praticò; Giovanna Vitaliti; Martino Ruggieri; Renata Rizzo; Enrico Parano; Lorenzo Pavone; Giuseppe Pero; Raffaele Falsaperla
Journal: Ital J Pediatr Date: 2014-10-18 Impact factor: 2.638

4. Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Authors: Monica Coll; Pasquale Striano; Carles Ferrer-Costa; Oscar Campuzano; Jesús Matés; Bernat Del Olmo; Anna Iglesias; Alexandra Pérez-Serra; Irene Mademont; Ferran Picó; Antonio Oliva; Ramon Brugada
Journal: PLoS One Date: 2017-12-19 Impact factor: 3.240