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 *

216 related articles for article (PubMed ID: 39259723)

  • 1. Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers.
    Thorpe HJ; Partha R; Little J; Clark NL; Chow CY
    PLoS Genet; 2024 Sep; 20(9):e1011406. PubMed ID: 39259723
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes.
    Thorpe HJ; Owings KG; Aziz MC; Haller M; Coelho E; Chow CY
    G3 (Bethesda); 2024 Mar; 14(3):. PubMed ID: 38124489
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
    de la Morena-Barrio ME; Hernández-Caselles T; Corral J; García-López R; Martínez-Martínez I; Pérez-Dueñas B; Altisent C; Sevivas T; Kristensen SR; Guillén-Navarro E; Miñano A; Vicente V; Jaeken J; Lozano ML
    Orphanet J Rare Dis; 2013 Oct; 8():170. PubMed ID: 24139637
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Analysis of Variants in the General Population Reveals That
    Citro V; Cimmaruta C; Monticelli M; Riccio G; Hay Mele B; Cubellis MV; Andreotti G
    Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30061496
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of
    Thorpe HJ; Pedersen BS; Dietze M; Link N; Quinlan AR; Bonkowsky JL; Thomas A; Chow CY
    bioRxiv; 2024 Aug; ():. PubMed ID: 39211166
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Glycosphingolipids in congenital disorders of glycosylation (CDG).
    Jáñez Pedrayes A; Rymen D; Ghesquière B; Witters P
    Mol Genet Metab; 2024 May; 142(1):108434. PubMed ID: 38489976
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
    Kasapkara CS; Olgac A; Derinkuyu BE; Oztoprak U; Jaeken J
    J Coll Physicians Surg Pak; 2022 Dec; 32(12):SS221-SS226. PubMed ID: 36597345
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
    Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
    Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
    Lam C; Scaglia F; Berry GT; Larson A; Sarafoglou K; Andersson HC; Sklirou E; Tan QKG; Starosta RT; Sadek M; Wolfe L; Horikoshi S; Ali M; Barone R; Campbell T; Chang IJ; Coles K; Cook E; Eklund EA; Engelhardt NM; Freeman M; Friedman J; Fu DYT; Botzo G; Rawls B; Hernandez C; Johnsen C; Keller K; Kramer S; Kuschel B; Leshinski A; Martinez-Duncker I; Mazza GL; Mercimek-Andrews S; Miller BS; Muthusamy K; Neira J; Patterson MC; Pogorelc N; Powers LN; Ramey E; Reinhart M; Squire A; Thies J; Vockley J; Vreugdenhil H; Witters P; Youbi M; Zeighami A; Zemet R; Edmondson AC; Morava E
    Mol Genet Metab; 2024 Aug; 142(4):108509. PubMed ID: 38959600
    [TBL] [Abstract][Full Text] [Related]  

  • 10. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
    Johnsen C; Tabatadze N; Radenkovic S; Botzo G; Kuschel B; Melikishvili G; Morava E
    Mol Genet Metab; 2024 Jul; 142(3):108477. PubMed ID: 38805916
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital disorders of glycosylation.
    Jaeken J
    Handb Clin Neurol; 2013; 113():1737-43. PubMed ID: 23622397
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CDG biochemical screening: Where do we stand?
    Bruneel A; Cholet S; Tran NT; Mai TD; Fenaille F
    Biochim Biophys Acta Gen Subj; 2020 Oct; 1864(10):129652. PubMed ID: 32512173
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.
    Wang Y; Tan J; Sutton-Smith M; Ditto D; Panico M; Campbell RM; Varki NM; Long JM; Jaeken J; Levinson SR; Wynshaw-Boris A; Morris HR; Le D; Dell A; Schachter H; Marth JD
    Glycobiology; 2001 Dec; 11(12):1051-70. PubMed ID: 11805078
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital disorders of glycosylation: Still "hot" in 2020.
    Ondruskova N; Cechova A; Hansikova H; Honzik T; Jaeken J
    Biochim Biophys Acta Gen Subj; 2021 Jan; 1865(1):129751. PubMed ID: 32991969
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
    Shah R; Eklund EA; Radenkovic S; Sadek M; Shammas I; Verberkmoes S; Ng BG; Freeze HH; Edmondson AC; He M; Kozicz T; Altassan R; Morava E
    Mol Genet Metab; 2024 Jun; 142(2):108472. PubMed ID: 38703411
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
    Würde AE; Reunert J; Rust S; Hertzberg C; Haverkämper S; Nürnberg G; Nürnberg P; Lehle L; Rossi R; Marquardt T
    Mol Genet Metab; 2012 Apr; 105(4):634-41. PubMed ID: 22304930
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
    Jaeken J; Vleugels W; Régal L; Corchia C; Goemans N; Haeuptle MA; Foulquier F; Hennet T; Matthijs G; Dionisi-Vici C
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S335-8. PubMed ID: 19856127
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital disorders of glycosylation--a challenging group of IEMs.
    Vodopiutz J; Bodamer OA
    J Inherit Metab Dis; 2008 Apr; 31(2):267-9. PubMed ID: 18392739
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Nutrition interventions in congenital disorders of glycosylation.
    Boyer SW; Johnsen C; Morava E
    Trends Mol Med; 2022 Jun; 28(6):463-481. PubMed ID: 35562242
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital disorders of glycosylation (CDG): state of the art in 2022.
    Francisco R; Brasil S; Poejo J; Jaeken J; Pascoal C; Videira PA; Dos Reis Ferreira V
    Orphanet J Rare Dis; 2023 Oct; 18(1):329. PubMed ID: 37858231
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.