BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 21979934)

  • 1. An activating mutation of AKT2 and human hypoglycemia.
    Hussain K; Challis B; Rocha N; Payne F; Minic M; Thompson A; Daly A; Scott C; Harris J; Smillie BJ; Savage DB; Ramaswami U; De Lonlay P; O'Rahilly S; Barroso I; Semple RK
    Science; 2011 Oct; 334(6055):474. PubMed ID: 21979934
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.
    Minic M; Rocha N; Harris J; Groeneveld MP; Leiter S; Wareham N; Sleigh A; De Lonlay P; Hussain K; O'Rahilly S; Semple RK
    J Clin Endocrinol Metab; 2017 Aug; 102(8):2914-2921. PubMed ID: 28541532
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia.
    Arya VB; Flanagan SE; Schober E; Rami-Merhar B; Ellard S; Hussain K
    J Clin Endocrinol Metab; 2014 Feb; 99(2):391-4. PubMed ID: 24285683
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
    Leiter SM; Parker VER; Welters A; Knox R; Rocha N; Clark G; Payne F; Lotta L; Harris J; Guerrero-Fernández J; González-Casado I; García-Miñaur S; Gordo G; Wareham N; Martínez-Glez V; Allison M; O'Rahilly S; Barroso I; Meissner T; Davies S; Hussain K; Temple K; Barreda-Bonis AC; Kummer S; Semple RK
    Eur J Endocrinol; 2017 Aug; 177(2):175-186. PubMed ID: 28566443
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.
    Dushar M; Nowaczyk J; Pyrżak B; Akopyan H; Śmigiel R; Walczak A; Rydzanicz M; Płoski R; Szczałuba K
    Eur J Med Genet; 2021 Dec; 64(12):104368. PubMed ID: 34673243
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ubiquitous expression of the Pik3caH1047R mutation promotes hypoglycemia, hypoinsulinemia, and organomegaly.
    Kinross KM; Montgomery KG; Mangiafico SP; Hare LM; Kleinschmidt M; Bywater MJ; Poulton IJ; Vrahnas C; Henneicke H; Malaterre J; Waring PM; Cullinane C; Sims NA; McArthur GA; Andrikopoulos S; Phillips WA
    FASEB J; 2015 Apr; 29(4):1426-34. PubMed ID: 25550458
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A family with severe insulin resistance and diabetes due to a mutation in AKT2.
    George S; Rochford JJ; Wolfrum C; Gray SL; Schinner S; Wilson JC; Soos MA; Murgatroyd PR; Williams RM; Acerini CL; Dunger DB; Barford D; Umpleby AM; Wareham NJ; Davies HA; Schafer AJ; Stoffel M; O'Rahilly S; Barroso I
    Science; 2004 May; 304(5675):1325-8. PubMed ID: 15166380
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Metabolism and insulin signaling in common metabolic disorders and inherited insulin resistance.
    Højlund K
    Dan Med J; 2014 Jul; 61(7):B4890. PubMed ID: 25123125
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Crucial Role for the Small GTPase Rac1 Downstream of the Protein Kinase Akt2 in Insulin Signaling that Regulates Glucose Uptake in Mouse Adipocytes.
    Takenaka N; Nakao M; Matsui S; Satoh T
    Int J Mol Sci; 2019 Oct; 20(21):. PubMed ID: 31683681
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Activity, phosphorylation state and subcellular distribution of GLUT4-targeted Akt2 in rat adipose cells.
    Chen X; Al-Hasani H; Olausson T; Wenthzel AM; Smith U; Cushman SW
    J Cell Sci; 2003 Sep; 116(Pt 17):3511-8. PubMed ID: 12876218
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A critical role of the small GTPase Rac1 in Akt2-mediated GLUT4 translocation in mouse skeletal muscle.
    Takenaka N; Izawa R; Wu J; Kitagawa K; Nihata Y; Hosooka T; Noguchi T; Ogawa W; Aiba A; Satoh T
    FEBS J; 2014 Mar; 281(5):1493-1504. PubMed ID: 24438685
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Partial Loss-of-Function Variant in
    Latva-Rasku A; Honka MJ; Stančáková A; Koistinen HA; Kuusisto J; Guan L; Manning AK; Stringham H; Gloyn AL; Lindgren CM; ; Collins FS; Mohlke KL; Scott LJ; Karjalainen T; Nummenmaa L; Boehnke M; Nuutila P; Laakso M
    Diabetes; 2018 Feb; 67(2):334-342. PubMed ID: 29141982
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Insulin-modulated Akt subcellular localization determines Akt isoform-specific signaling.
    Gonzalez E; McGraw TE
    Proc Natl Acad Sci U S A; 2009 Apr; 106(17):7004-9. PubMed ID: 19372382
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Rac1 Activation Caused by Membrane Translocation of a Guanine Nucleotide Exchange Factor in Akt2-Mediated Insulin Signaling in Mouse Skeletal Muscle.
    Takenaka N; Nihata Y; Satoh T
    PLoS One; 2016; 11(5):e0155292. PubMed ID: 27163697
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Akt2 regulates Rac1 activity in the insulin-dependent signaling pathway leading to GLUT4 translocation to the plasma membrane in skeletal muscle cells.
    Nozaki S; Takeda T; Kitaura T; Takenaka N; Kataoka T; Satoh T
    Cell Signal; 2013 Jun; 25(6):1361-71. PubMed ID: 23499910
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular and genetic studies imply Akt-mediated signaling promotes protein kinase CbetaII alternative splicing via phosphorylation of serine/arginine-rich splicing factor SRp40.
    Patel NA; Kaneko S; Apostolatos HS; Bae SS; Watson JE; Davidowitz K; Chappell DS; Birnbaum MJ; Cheng JQ; Cooper DR
    J Biol Chem; 2005 Apr; 280(14):14302-9. PubMed ID: 15684423
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Akt2 influences glycogen synthase activity in human skeletal muscle through regulation of NH₂-terminal (sites 2 + 2a) phosphorylation.
    Friedrichsen M; Birk JB; Richter EA; Ribel-Madsen R; Pehmøller C; Hansen BF; Beck-Nielsen H; Hirshman MF; Goodyear LJ; Vaag A; Poulsen P; Wojtaszewski JF
    Am J Physiol Endocrinol Metab; 2013 Mar; 304(6):E631-9. PubMed ID: 23321478
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway.
    Şıklar Z; Çetin T; Çakar N; Berberoğlu M
    J Clin Res Pediatr Endocrinol; 2020 Nov; 12(4):439-443. PubMed ID: 32157856
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.