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 *

220 related articles for article (PubMed ID: 27213289)

  • 1. NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
    van Karnebeek CD; Bonafé L; Wen XY; Tarailo-Graovac M; Balzano S; Royer-Bertrand B; Ashikov A; Garavelli L; Mammi I; Turolla L; Breen C; Donnai D; Cormier-Daire V; Heron D; Nishimura G; Uchikawa S; Campos-Xavier B; Rossi A; Hennet T; Brand-Arzamendi K; Rozmus J; Harshman K; Stevenson BJ; Girardi E; Superti-Furga G; Dewan T; Collingridge A; Halparin J; Ross CJ; Van Allen MI; Rossi A; Engelke UF; Kluijtmans LA; van der Heeft E; Renkema H; de Brouwer A; Huijben K; Zijlstra F; Heise T; Boltje T; Wasserman WW; Rivolta C; Unger S; Lefeber DJ; Wevers RA; Superti-Furga A
    Nat Genet; 2016 Jul; 48(7):777-84. PubMed ID: 27213289
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The fate of orally administered sialic acid: First insights from patients with
    Tran C; Turolla L; Ballhausen D; Buros SC; Teav T; Gallart-Ayala H; Ivanisevic J; Faouzi M; Lefeber DJ; Ivanovski I; Giangiobbe S; Caraffi SG; Garavelli L; Superti-Furga A
    Mol Genet Metab Rep; 2021 Sep; 28():100777. PubMed ID: 34258226
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
    Wen XY; Tarailo-Graovac M; Brand-Arzamendi K; Willems A; Rakic B; Huijben K; Da Silva A; Pan X; El-Rass S; Ng R; Selby K; Philip AM; Yun J; Ye XC; Ross CJ; Lehman AM; Zijlstra F; Abu Bakar N; Drögemöller B; Moreland J; Wasserman WW; Vallance H; van Scherpenzeel M; Karbassi F; Hoskings M; Engelke U; de Brouwer A; Wevers RA; Pshezhetsky AV; van Karnebeek CD; Lefeber DJ
    JCI Insight; 2018 Dec; 3(24):. PubMed ID: 30568043
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
    den Hollander B; Brands MM; de Boer L; Haaxma CA; Lengyel A; van Essen P; Peters G; Kwast HJT; Klein WM; Coene KLM; Lefeber DJ; van Karnebeek CDM
    J Inherit Metab Dis; 2023 Sep; 46(5):956-971. PubMed ID: 37340906
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Generation of an NANS homozygous knockout human induced pluripotent stem cell line by the insertion of GFP-P2A-Puro via CRISPR/Cas9 editing.
    Bu Q; Zhang H; Liu Q; Dai Y; Wei Q; Xue A; Huang Y; Zhong K; Huang Y; Gao H; Cen X
    Stem Cell Res; 2020 Dec; 49():102052. PubMed ID: 33130469
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neurodevelopmental defects in human cortical organoids with
    Bu Q; Dai Y; Zhang H; Li M; Liu H; Huang Y; Zeng A; Qin F; Jiang L; Wang L; Chen Y; Li H; Wang X; Zhao Y; Qin M; Zhao Y; Zhang N; Kuang W; Zhao Y; Cen X
    Sci Adv; 2023 Nov; 9(47):eadf2772. PubMed ID: 38000033
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.
    Renlund M; Kovanen PT; Raivio KO; Aula P; Gahmberg CG; Ehnholm C
    J Clin Invest; 1986 Feb; 77(2):568-74. PubMed ID: 3944269
    [TBL] [Abstract][Full Text] [Related]  

  • 8. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
    Marom R; Burrage LC; Venditti R; Clément A; Blanco-Sánchez B; Jain M; Scott DA; Rosenfeld JA; Sutton VR; Shinawi M; Mirzaa G; DeVile C; Roberts R; Calder AD; Allgrove J; Grafe I; Lanza DG; Li X; Joeng KS; Lee YC; Song IW; Sliepka JM; Batkovskyte D; Washington M; Dawson BC; Jin Z; Jiang MM; Chen S; Chen Y; Tran AA; Emrick LT; Murdock DR; Hanchard NA; Zapata GE; Mehta NR; Weis MA; Scott AA; Tremp BA; Phillips JB; Wegner J; Taylor-Miller T; Gibbs RA; Muzny DM; Jhangiani SN; Hicks J; Stottmann RW; Dickinson ME; Seavitt JR; Heaney JD; Eyre DR; ; Westerfield M; De Matteis MA; Lee B
    Am J Hum Genet; 2021 Sep; 108(9):1710-1724. PubMed ID: 34450031
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of a sialate-O-acetylesterase (NanS) from the oral pathogen Tannerella forsythia that enhances sialic acid release by NanH, its cognate sialidase.
    Phansopa C; Kozak RP; Liew LP; Frey AM; Farmilo T; Parker JL; Kelly DJ; Emery RJ; Thomson RI; Royle L; Gardner RA; Spencer DI; Stafford GP
    Biochem J; 2015 Dec; 472(2):157-67. PubMed ID: 26378150
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.
    Paschke E; Höfler G; Roscher A
    J Inherit Metab Dis; 1987; 10(1):48-51. PubMed ID: 3106716
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A simple enzymatic determination of urinary sialic acid--its significance in the diagnosis of disorders of sialic acid metabolism.
    Okamura-Oho Y; Yamanaka T; Suzuki Y; Akagi M; Kobayashi T
    Clin Chim Acta; 1984 Dec; 144(2-3):263-7. PubMed ID: 6529860
    [No Abstract]   [Full Text] [Related]  

  • 12. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
    den Hollander B; Rasing A; Post MA; Klein WM; Oud MM; Brands MM; de Boer L; Engelke UFH; van Essen P; Fuchs SA; Haaxma CA; Jensson BO; Kluijtmans LAJ; Lengyel A; Lichtenbelt KD; Østergaard E; Peters G; Salvarinova R; Simon MEH; Stefansson K; Thorarensen Ó; Ulmen U; Coene KLM; Willemsen MA; Lefeber DJ; van Karnebeek CDM
    Front Neurol; 2021; 12():668640. PubMed ID: 34163424
    [No Abstract]   [Full Text] [Related]  

  • 13. Origin and evolution of nonulosonic acid synthases and their relationship with bacterial pathogenicity revealed by a large-scale phylogenetic analysis.
    Vieira AZ; Raittz RT; Faoro H
    Microb Genom; 2021 Apr; 7(4):. PubMed ID: 33848237
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sialuria: a second case.
    Wilcken B; Don N; Greenaway R; Hammond J; Sosula L
    J Inherit Metab Dis; 1987; 10(2):97-102. PubMed ID: 2443758
    [TBL] [Abstract][Full Text] [Related]  

  • 15. YjhS (NanS) is required for Escherichia coli to grow on 9-O-acetylated N-acetylneuraminic acid.
    Steenbergen SM; Jirik JL; Vimr ER
    J Bacteriol; 2009 Nov; 191(22):7134-9. PubMed ID: 19749043
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.
    Renlund M; Tietze F; Gahl WA
    Science; 1986 May; 232(4751):759-62. PubMed ID: 3961501
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency.
    Anderson RA; Schwalbach KT; Mui SR; LeClair EE; Topczewska JM; Topczewski J
    Dis Model Mech; 2020 Jun; 13(6):. PubMed ID: 32430393
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.
    Stevenson RE; Lubinsky M; Taylor HA; Wenger DA; Schroer RJ; Olmstead PM
    Pediatrics; 1983 Oct; 72(4):441-9. PubMed ID: 6889058
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    Volpi S; Yamazaki Y; Brauer PM; van Rooijen E; Hayashida A; Slavotinek A; Sun Kuehn H; Di Rocco M; Rivolta C; Bortolomai I; Du L; Felgentreff K; Ott de Bruin L; Hayashida K; Freedman G; Marcovecchio GE; Capuder K; Rath P; Luche N; Hagedorn EJ; Buoncompagni A; Royer-Bertrand B; Giliani S; Poliani PL; Imberti L; Dobbs K; Poulain FE; Martini A; Manis J; Linhardt RJ; Bosticardo M; Rosenzweig SD; Lee H; Puck JM; Zúñiga-Pflücker JC; Zon L; Park PW; Superti-Furga A; Notarangelo LD
    J Exp Med; 2017 Mar; 214(3):623-637. PubMed ID: 28148688
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Manifold decrease of sialic acid synthase in fetal Down syndrome brain.
    Gulesserian T; Engidawork E; Fountoulakis M; Lubec G
    Amino Acids; 2007 Jan; 32(1):141-4. PubMed ID: 16729195
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.