These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

538 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. Unilateral focal palmoplantar keratoderma associated with a postzygotic variant in PIK3CA and activation of the PI3K/AKT/mTOR pathway.
    Gong Z; Peng S; Wang H; Jiang X; Ke X; Lin Z
    Eur J Dermatol; 2024 Jun; 34(3):287-293. PubMed ID: 39015962
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 27.