BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

447 related articles for article (PubMed ID: 15107842)

  • 1. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
    Wu X; Steet RA; Bohorov O; Bakker J; Newell J; Krieger M; Spaapen L; Kornfeld S; Freeze HH
    Nat Med; 2004 May; 10(5):518-23. PubMed ID: 15107842
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
    Foulquier F; Ungar D; Reynders E; Zeevaert R; Mills P; García-Silva MT; Briones P; Winchester B; Morelle W; Krieger M; Annaert W; Matthijs G
    Hum Mol Genet; 2007 Apr; 16(7):717-30. PubMed ID: 17220172
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
    Morava E; Zeevaert R; Korsch E; Huijben K; Wopereis S; Matthijs G; Keymolen K; Lefeber DJ; De Meirleir L; Wevers RA
    Eur J Hum Genet; 2007 Jun; 15(6):638-45. PubMed ID: 17356545
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
    Paesold-Burda P; Maag C; Troxler H; Foulquier F; Kleinert P; Schnabel S; Baumgartner M; Hennet T
    Hum Mol Genet; 2009 Nov; 18(22):4350-6. PubMed ID: 19690088
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A COG in the sugar machine.
    Marquardt T
    Nat Med; 2004 May; 10(5):457-8. PubMed ID: 15122242
    [No Abstract]   [Full Text] [Related]  

  • 6. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
    Foulquier F; Vasile E; Schollen E; Callewaert N; Raemaekers T; Quelhas D; Jaeken J; Mills P; Winchester B; Krieger M; Annaert W; Matthijs G
    Proc Natl Acad Sci U S A; 2006 Mar; 103(10):3764-9. PubMed ID: 16537452
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new mutation in COG7 extends the spectrum of COG subunit deficiencies.
    Zeevaert R; Foulquier F; Cheillan D; Cloix I; Guffon N; Sturiale L; Garozzo D; Matthijs G; Jaeken J
    Eur J Med Genet; 2009; 52(5):303-5. PubMed ID: 19577670
    [TBL] [Abstract][Full Text] [Related]  

  • 8. COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation.
    Shestakova A; Zolov S; Lupashin V
    Traffic; 2006 Feb; 7(2):191-204. PubMed ID: 16420527
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
    Reynders E; Foulquier F; Leão Teles E; Quelhas D; Morelle W; Rabouille C; Annaert W; Matthijs G
    Hum Mol Genet; 2009 Sep; 18(17):3244-56. PubMed ID: 19494034
    [TBL] [Abstract][Full Text] [Related]  

  • 10. How Golgi glycosylation meets and needs trafficking: the case of the COG complex.
    Reynders E; Foulquier F; Annaert W; Matthijs G
    Glycobiology; 2011 Jul; 21(7):853-63. PubMed ID: 21112967
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Congenital disorders of glycosylation].
    Durand G; Dupré T; Vuillaumier-Barrot S; Seta N
    Ann Pharm Fr; 2003; 61(5):330-9. PubMed ID: 13130291
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
    Zeevaert R; Foulquier F; Jaeken J; Matthijs G
    Mol Genet Metab; 2008 Jan; 93(1):15-21. PubMed ID: 17904886
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
    Grubenmann CE; Frank CG; Hülsmeier AJ; Schollen E; Matthijs G; Mayatepek E; Berger EG; Aebi M; Hennet T
    Hum Mol Genet; 2004 Mar; 13(5):535-42. PubMed ID: 14709599
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
    Leroy JG
    Pediatr Res; 2006 Dec; 60(6):643-56. PubMed ID: 17065563
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
    Spaapen LJ; Bakker JA; van der Meer SB; Sijstermans HJ; Steet RA; Wevers RA; Jaeken J
    J Inherit Metab Dis; 2005; 28(5):707-14. PubMed ID: 16151902
    [TBL] [Abstract][Full Text] [Related]  

  • 16. COG8 deficiency causes new congenital disorder of glycosylation type IIh.
    Kranz C; Ng BG; Sun L; Sharma V; Eklund EA; Miura Y; Ungar D; Lupashin V; Winkel RD; Cipollo JF; Costello CE; Loh E; Hong W; Freeze HH
    Hum Mol Genet; 2007 Apr; 16(7):731-41. PubMed ID: 17331980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. IntraGolgi distribution of the Conserved Oligomeric Golgi (COG) complex.
    Vasile E; Oka T; Ericsson M; Nakamura N; Krieger M
    Exp Cell Res; 2006 Oct; 312(16):3132-41. PubMed ID: 16857184
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.
    Lübbehusen J; Thiel C; Rind N; Ungar D; Prinsen BH; de Koning TJ; van Hasselt PM; Körner C
    Hum Mol Genet; 2010 Sep; 19(18):3623-33. PubMed ID: 20605848
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Molecular diagnosis of congenital disorders of glycosylation].
    Vuillaumier-Barrot S
    Ann Biol Clin (Paris); 2005; 63(2):135-43. PubMed ID: 15771971
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Altered glycan structures: the molecular basis of congenital disorders of glycosylation.
    Freeze HH; Aebi M
    Curr Opin Struct Biol; 2005 Oct; 15(5):490-8. PubMed ID: 16154350
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.