BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 32684311)

  • 1. Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth.
    Sujjitjoon J; Charoensuk C; Thanyaphon T; Kooptiwut S; Thamtarana PJ; Tangjittipokin W; Chongjaroen N; Chanprasert C; Abubakar Z; Lapbenjakul S; Yenchitsomanus PT; Plengvidhya N
    Biochem Biophys Res Commun; 2020 Aug; 529(3):826-833. PubMed ID: 32684311
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells.
    Low BSJ; Lim CS; Ding SSL; Tan YS; Ng NHJ; Krishnan VG; Ang SF; Neo CWY; Verma CS; Hoon S; Lim SC; Tai ES; Teo AKK
    Nat Commun; 2021 May; 12(1):3133. PubMed ID: 34035238
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.
    Balamurugan K; Bjørkhaug L; Mahajan S; Kanthimathi S; Njølstad PR; Srinivasan N; Mohan V; Radha V
    Clin Genet; 2016 Dec; 90(6):486-495. PubMed ID: 26853433
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.
    Sagen JV; Bjørkhaug L; Haukanes BI; Grevle L; Molnes J; Nedrebø BG; Søvik O; Njølstad PR; Johansson S; Molven A
    Diabetes Res Clin Pract; 2017 Nov; 133():142-149. PubMed ID: 28934671
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic β-cell dysfunction.
    Nocera D; Menniti M; Belviso S; Bond HM; Lanzillotta D; Spoleti CB; Guagliardi MR; Malatesta P; Trapasso F; Irace C; Perrotti N; Iuliano R
    Acta Diabetol; 2019 Aug; 56(8):883-888. PubMed ID: 30963309
    [TBL] [Abstract][Full Text] [Related]  

  • 6. INS-1 cells undergoing caspase-dependent apoptosis enhance the regenerative capacity of neighboring cells.
    Bonner C; Bacon S; Concannon CG; Rizvi SR; Baquié M; Farrelly AM; Kilbride SM; Dussmann H; Ward MW; Boulanger CM; Wollheim CB; Graf R; Byrne MM; Prehn JH
    Diabetes; 2010 Nov; 59(11):2799-808. PubMed ID: 20682686
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bone morphogenetic protein 3 controls insulin gene expression and is down-regulated in INS-1 cells inducibly expressing a hepatocyte nuclear factor 1A-maturity-onset diabetes of the young mutation.
    Bonner C; Farrelly AM; Concannon CG; Dussmann H; Baquié M; Virard I; Wobser H; Kögel D; Wollheim CB; Rupnik M; Byrne MM; König HG; Prehn JH
    J Biol Chem; 2011 Jul; 286(29):25719-28. PubMed ID: 21628466
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes.
    Harries LW; Ellard S; Stride A; Morgan NG; Hattersley AT
    Hum Mol Genet; 2006 Jul; 15(14):2216-24. PubMed ID: 16760222
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
    Ellard S; Colclough K
    Hum Mutat; 2006 Sep; 27(9):854-69. PubMed ID: 16917892
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.
    Jeannot E; Mellottee L; Bioulac-Sage P; Balabaud C; Scoazec JY; Tran Van Nhieu J; Bacq Y; Michalak S; Buob D; ; Laurent-Puig P; Rusyn I; Zucman-Rossi J
    Diabetes; 2010 Jul; 59(7):1836-44. PubMed ID: 20393147
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.
    P S; D TK; C GPD; R S; Zayed H
    PLoS One; 2017; 12(4):e0174953. PubMed ID: 28410371
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An intron mutation of HNF1A causes abnormal splicing and impairs its activity as a transcription factor.
    Wang M; Shu H; Xie J; Huang Y; Wang K; Feng R; Yu X; Guan J; Feng W; Liu M
    Mol Cell Endocrinol; 2022 Apr; 545():111575. PubMed ID: 35081418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hepatocyte nuclear factor-1alpha modulates pancreatic beta-cell growth by regulating the expression of insulin-like growth factor-1 in INS-1 cells.
    Yang Q; Yamagata K; Fukui K; Cao Y; Nammo T; Iwahashi H; Wang H; Matsumura I; Hanafusa T; Bucala R; Wollheim CB; Miyagawa J; Matsuzawa Y
    Diabetes; 2002 Jun; 51(6):1785-92. PubMed ID: 12031966
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
    Kaci A; Solheim MH; Silgjerd T; Hjaltadottir J; Hornnes LH; Molnes J; Madsen A; Sjøholt G; Bellanné-Chantelot C; Caswell R; Sagen JV; Njølstad PR; Aukrust I; Bjørkhaug L
    Hum Mol Genet; 2024 May; 33(10):894-904. PubMed ID: 38433330
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
    Tatsi C; Kanaka-Gantenbein C; Vazeou-Gerassimidi A; Chrysis D; Delis D; Tentolouris N; Dacou-Voutetakis C; Chrousos GP; Sertedaki A
    Pediatr Diabetes; 2013 Nov; 14(7):526-34. PubMed ID: 23517481
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
    Malikova J; Kaci A; Dusatkova P; Aukrust I; Torsvik J; Vesela K; Kankova PD; Njølstad PR; Pruhova S; Bjørkhaug L
    J Clin Endocrinol Metab; 2020 Apr; 105(4):. PubMed ID: 32017842
    [TBL] [Abstract][Full Text] [Related]  

  • 17. MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
    Matsukura H; Nagamori M; Miya K; Yorifuji T
    Clin Nephrol; 2017 Sep; 88(9):162-166. PubMed ID: 28766492
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Primary hepatocellular neoplasms in a MODY3 family with a novel HNF1A germline mutation.
    Willson JS; Godwin TD; Wiggins GA; Guilford PJ; McCall JL
    J Hepatol; 2013 Oct; 59(4):904-7. PubMed ID: 23707370
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rapamycin protects against dominant negative-HNF1A-induced apoptosis in INS-1 cells.
    Farrelly AM; Kilbride SM; Bonner C; Prehn JH; Byrne MM
    Apoptosis; 2011 Nov; 16(11):1128-37. PubMed ID: 21874357
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants.
    Kind L; Raasakka A; Molnes J; Aukrust I; Bjørkhaug L; Njølstad PR; Kursula P; Arnesen T
    J Biol Chem; 2022 Apr; 298(4):101803. PubMed ID: 35257744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.