334 related articles for article (PubMed ID: 28086757)
1. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
Negishi Y; Miya F; Hattori A; Johmura Y; Nakagawa M; Ando N; Hori I; Togawa T; Aoyama K; Ohashi K; Fukumura S; Mizuno S; Umemura A; Kishimoto Y; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Nakanishi M; Saitoh S
BMC Med Genet; 2017 Jan; 18(1):4. PubMed ID: 28086757
[TBL] [Abstract][Full Text] [Related]
2. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Jansen LA; Mirzaa GM; Ishak GE; O'Roak BJ; Hiatt JB; Roden WH; Gunter SA; Christian SL; Collins S; Adams C; Rivière JB; St-Onge J; Ojemann JG; Shendure J; Hevner RF; Dobyns WB
Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
Klein SD; Nguyen DC; Bhakta V; Wong D; Chang VY; Davidson TB; Martinez-Agosto JA
Am J Med Genet A; 2019 Dec; 179(12):2517-2531. PubMed ID: 31639285
[TBL] [Abstract][Full Text] [Related]
4. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS; Tso WWY; Ip JJK; Mak CCY; Leung GKC; Tsang MHY; Ying D; Pei SLC; Lee SL; Yang W; Chung BH
Mol Autism; 2017; 8():66. PubMed ID: 29296277
[TBL] [Abstract][Full Text] [Related]
5. Activation of PI3K/Akt/mTOR signaling pathway triggered by PTEN downregulation in the pathogenesis of Crohn's disease.
Long SH; He Y; Chen MH; Cao K; Chen YJ; Chen BL; Mao R; Zhang SH; Zhu ZH; Zeng ZR; Hu PJ
J Dig Dis; 2013 Dec; 14(12):662-9. PubMed ID: 23962154
[TBL] [Abstract][Full Text] [Related]
6. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB; Mirzaa GM; O'Roak BJ; Beddaoui M; Alcantara D; Conway RL; St-Onge J; Schwartzentruber JA; Gripp KW; Nikkel SM; Worthylake T; Sullivan CT; Ward TR; Butler HE; Kramer NA; Albrecht B; Armour CM; Armstrong L; Caluseriu O; Cytrynbaum C; Drolet BA; Innes AM; Lauzon JL; Lin AE; Mancini GM; Meschino WS; Reggin JD; Saggar AK; Lerman-Sagie T; Uyanik G; Weksberg R; Zirn B; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Shendure J; Graham JM; Boycott KM; Dobyns WB
Nat Genet; 2012 Jun; 44(8):934-40. PubMed ID: 22729224
[TBL] [Abstract][Full Text] [Related]
7. Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB; Mirzaa GM
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):582-590. PubMed ID: 31441589
[TBL] [Abstract][Full Text] [Related]
8. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Mirzaa GM; Rivière JB; Dobyns WB
Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320
[TBL] [Abstract][Full Text] [Related]
9. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
Tapper WJ; Foulds N; Cross NC; Aranaz P; Score J; Hidalgo-Curtis C; Robinson DO; Gibson J; Ennis S; Temple IK; Collins A
PLoS One; 2014; 9(1):e86940. PubMed ID: 24497998
[TBL] [Abstract][Full Text] [Related]
10. A detailed immunohistochemical analysis of the PI3K/AKT/mTOR pathway in lung cancer: correlation with PIK3CA, AKT1, K-RAS or PTEN mutational status and clinicopathological features.
Trigka EA; Levidou G; Saetta AA; Chatziandreou I; Tomos P; Thalassinos N; Anastasiou N; Spartalis E; Kavantzas N; Patsouris E; Korkolopoulou P
Oncol Rep; 2013 Aug; 30(2):623-36. PubMed ID: 23728071
[TBL] [Abstract][Full Text] [Related]
11. PI3K/Akt/mTOR signaling & its regulator tumour suppressor genes
Makker A; Goel MM; Mahdi AA; Bhatia V; Das V; Agarwal A; Pandey A
Indian J Med Res; 2016 May; 143(Supplement):S112-S119. PubMed ID: 27748285
[TBL] [Abstract][Full Text] [Related]
12. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
Stutterd C; McGillivray G; Stark Z; Messazos B; Cameron F; White S; ; Mirzaa G; Leventer R
Eur J Med Genet; 2018 Dec; 61(12):738-740. PubMed ID: 29883676
[TBL] [Abstract][Full Text] [Related]
13. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
[TBL] [Abstract][Full Text] [Related]
14. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
Nakamura K; Kato M; Tohyama J; Shiohama T; Hayasaka K; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Matsumoto N; Saitsu H
Clin Genet; 2014 Apr; 85(4):396-8. PubMed ID: 23745724
[No Abstract] [Full Text] [Related]
15. Targeting the PI3K/PTEN/AKT/mTOR Pathway in Treatment of Sarcoma Cell Lines.
Lim HJ; Wang X; Crowe P; Goldstein D; Yang JL
Anticancer Res; 2016 Nov; 36(11):5765-5771. PubMed ID: 27793898
[TBL] [Abstract][Full Text] [Related]
16. Increased expression of the PI3K catalytic subunit p110δ underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family.
Poopal AC; Schroeder LM; Horn PS; Bassell GJ; Gross C
Mol Autism; 2016; 7():3. PubMed ID: 26770665
[TBL] [Abstract][Full Text] [Related]
17. PTEN promoter methylation and activation of the PI3K/Akt/mTOR pathway in pediatric gliomas and influence on clinical outcome.
Mueller S; Phillips J; Onar-Thomas A; Romero E; Zheng S; Wiencke JK; McBride SM; Cowdrey C; Prados MD; Weiss WA; Berger MS; Gupta N; Haas-Kogan DA
Neuro Oncol; 2012 Sep; 14(9):1146-52. PubMed ID: 22753230
[TBL] [Abstract][Full Text] [Related]
18. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D; Timms AE; Gripp K; Baker L; Park K; Collins S; Cheng C; Stewart F; Mehta SG; Saggar A; Sztriha L; Zombor M; Caluseriu O; Mesterman R; Van Allen MI; Jacquinet A; Ygberg S; Bernstein JA; Wenger AM; Guturu H; Bejerano G; Gomez-Ospina N; Lehman A; Alfei E; Pantaleoni C; Conti V; Guerrini R; Moog U; Graham JM; Hevner R; Dobyns WB; O'Driscoll M; Mirzaa GM
Brain; 2017 Oct; 140(10):2610-2622. PubMed ID: 28969385
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N; Carmignac V; Sorlin A; Duffourd Y; Philippe C; Thauvin-Robinet C; Guibaud L; Faivre L; Vabres P; Kuentz P;
Ultrasound Obstet Gynecol; 2022 Apr; 59(4):532-542. PubMed ID: 34170046
[TBL] [Abstract][Full Text] [Related]
20. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
Döcker D; Schubach M; Menzel M; Spaich C; Gabriel HD; Zenker M; Bartholdi D; Biskup S
Eur J Hum Genet; 2015 Mar; 23(3):409-12. PubMed ID: 24939587
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
