509 related articles for article (PubMed ID: 29296277)
1. 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]
2. 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]
3. Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
Zollino M; Ranieri C; Grossi V; Leoni C; Lattante S; Mazzà D; Simone C; Resta N
Mol Genet Genomic Med; 2019 Aug; 7(8):e845. PubMed ID: 31290289
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F; Berkseth M; Shear R; Gonzalez L; Timms AE; Sulc J; Pao E; Oyama N; Forzano F; Conti V; Guerrini R; Doherty ES; Saitta SC; Lockwood CM; Pritchard CC; Dobyns WB; Novotny E; Wright JNN; Saneto RP; Friedman S; Hauptman J; Ojemann J; Kapur RP; Mirzaa GM
Brain; 2022 Apr; 145(3):925-938. PubMed ID: 35355055
[TBL] [Abstract][Full Text] [Related]
6. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G; Tenorio J; Arias P; Santos-Simarro F; García-Miñaur S; Moreno JC; Nevado J; Vallespin E; Rodriguez-Laguna L; de Mena R; Dapia I; Palomares-Bralo M; Del Pozo Á; Ibañez K; Silla JC; Barroso E; Ruiz-Pérez VL; Martinez-Glez V; Lapunzina P
Clin Genet; 2018 Apr; 93(4):762-775. PubMed ID: 28892148
[TBL] [Abstract][Full Text] [Related]
7. The Landscape of Somatic Genetic Alterations in Metaplastic Breast Carcinomas.
Ng CKY; Piscuoglio S; Geyer FC; Burke KA; Pareja F; Eberle CA; Lim RS; Natrajan R; Riaz N; Mariani O; Norton L; Vincent-Salomon A; Wen YH; Weigelt B; Reis-Filho JS
Clin Cancer Res; 2017 Jul; 23(14):3859-3870. PubMed ID: 28153863
[No Abstract] [Full Text] [Related]
8. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
[TBL] [Abstract][Full Text] [Related]
9. Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.
Yan W; Zhang B; Wang H; Mo R; Jiang X; Qin W; Ma L; Lin Z
Hereditas; 2021 Jun; 158(1):18. PubMed ID: 34074347
[TBL] [Abstract][Full Text] [Related]
10. Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.
Maines E; Franceschi R; Martinelli D; Soli F; Lepri FR; Piccoli G; Soffiati M
Hormones (Athens); 2021 Dec; 20(4):623-640. PubMed ID: 33876391
[TBL] [Abstract][Full Text] [Related]
11. A comprehensive immunohistochemical and molecular approach to the PI3K/AKT/mTOR (phosphoinositide 3-kinase/v-akt murine thymoma viral oncogene/mammalian target of rapamycin) pathway in bladder urothelial carcinoma.
Korkolopoulou P; Levidou G; Trigka EA; Prekete N; Karlou M; Thymara I; Sakellariou S; Fragkou P; Isaiadis D; Pavlopoulos P; Patsouris E; Saetta AA
BJU Int; 2012 Dec; 110(11 Pt C):E1237-48. PubMed ID: 23107319
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Shang L; Henderson LB; Cho MT; Petrey DS; Fong CT; Haude KM; Shur N; Lundberg J; Hauser N; Carmichael J; Innis J; Schuette J; Wu YW; Asaikar S; Pearson M; Folk L; Retterer K; Monaghan KG; Chung WK
Neurogenetics; 2016 Jan; 17(1):43-9. PubMed ID: 26576547
[TBL] [Abstract][Full Text] [Related]
15. Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
Wu H; Li H; Bai T; Han L; Ou J; Xun G; Zhang Y; Wang Y; Duan G; Zhao N; Chen B; Du X; Yao M; Zou X; Zhao J; Hu Z; Eichler EE; Guo H; Xia K
Clin Genet; 2020 Feb; 97(2):338-346. PubMed ID: 31674007
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
Papke CM; Smolen KA; Swingle MR; Cressey L; Heng RA; Toporsian M; Deng L; Hagen J; Shen Y; Chung WK; Kettenbach AN; Honkanen RE
J Biol Chem; 2021; 296():100313. PubMed ID: 33482199
[TBL] [Abstract][Full Text] [Related]
18. Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis.
Kurata H; Shirai K; Saito Y; Okazaki T; Ohno K; Oguri M; Adachi K; Nanba E; Maegaki Y
Brain Dev; 2018 Jan; 40(1):36-41. PubMed ID: 28774669
[TBL] [Abstract][Full Text] [Related]
19. Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
Kaymakcalan H; Kaya İ; Cevher Binici N; Nikerel E; Özbaran B; Görkem Aksoy M; Erbilgin S; Özyurt G; Jahan N; Çelik D; Yararbaş K; Yalçınkaya L; Köse S; Durak S; Ercan-Sencicek AG
Mol Genet Genomic Med; 2021 Aug; 9(8):e1739. PubMed ID: 34268892
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]