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 *

149 related articles for article (PubMed ID: 33198675)

  • 1. Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
    Li X; Li Y; Lei M; Tian J; Yang Z; Kuang S; Tan Y; Bo T
    BMC Med Genet; 2020 Nov; 21(1):224. PubMed ID: 33198675
    [TBL] [Abstract][Full Text] [Related]  

  • 2. GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
    Izumi R; Niihori T; Suzuki N; Sasahara Y; Rikiishi T; Nishiyama A; Nishiyama S; Endo K; Kato M; Warita H; Konno H; Takahashi T; Tateyama M; Nagashima T; Funayama R; Nakayama K; Kure S; Matsubara Y; Aoki Y; Aoki M
    Neuromuscul Disord; 2014 Dec; 24(12):1068-72. PubMed ID: 25257349
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in
    Smolag KI; Fager Ferrari M; Zetterberg E; Leinoe E; Ek T; Blom AM; Rossing M; Martin M
    Front Immunol; 2021; 12():777402. PubMed ID: 34858435
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
    Mori-Yoshimura M; Monma K; Suzuki N; Aoki M; Kumamoto T; Tanaka K; Tomimitsu H; Nakano S; Sonoo M; Shimizu J; Sugie K; Nakamura H; Oya Y; Hayashi YK; Malicdan MC; Noguchi S; Murata M; Nishino I
    J Neurol Sci; 2012 Jul; 318(1-2):100-5. PubMed ID: 22507750
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice.
    Gagiannis D; Orthmann A; Danssmann I; Schwarzkopf M; Weidemann W; Horstkorte R
    Glycoconj J; 2007 Apr; 24(2-3):125-30. PubMed ID: 17235685
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel GNE compound heterozygous mutations in a GNE myopathy patient.
    Cai H; Yabe I; Shirai S; Nishimura H; Hirotani M; Kano T; Houzen H; Yoshida K; Sasaki H
    Muscle Nerve; 2013 Oct; 48(4):594-8. PubMed ID: 23558691
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
    Zieger B; Boeckelmann D; Anani W; Falet H; Zhu J; Glonnegger H; Full H; Andresen F; Erlacher M; Lausch E; Fels S; Strahm B; Lang P; Hoffmeister KM
    Thromb Haemost; 2022 Jul; 122(7):1139-1146. PubMed ID: 35052006
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells.
    Kemmner W; Kessel P; Sanchez-Ruderisch H; Möller H; Hinderlich S; Schlag PM; Detjen K
    FASEB J; 2012 Feb; 26(2):938-46. PubMed ID: 22049060
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
    Chanana P; Padhy G; Bhargava K; Arya R
    Neuromolecular Med; 2017 Dec; 19(4):525-540. PubMed ID: 28895049
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
    Chu CC; Kuo HC; Yeh TH; Ro LS; Chen SR; Huang CC
    Clin Neurol Neurosurg; 2007 Apr; 109(3):250-6. PubMed ID: 17098358
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
    Kim BJ; Ki CS; Kim JW; Sung DH; Choi YC; Kim SH
    J Hum Genet; 2006; 51(2):137-140. PubMed ID: 16372135
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MYH9-macrothrombocytopenia caused by a novel variant (E1421K) initially presenting as apparent neonatal alloimmune thrombocytopenia.
    Samelson-Jones BJ; Kramer PM; Chicka M; Gunning WT; Lambert MP
    Pediatr Blood Cancer; 2018 Apr; 65(4):. PubMed ID: 29286575
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
    Khademian H; Mehravar E; Urtizberea J; Sagoo S; Sandoval L; Carbajo R; Darvish B; Valles-Ayoub Y; Darvish D
    Clin Genet; 2013 Dec; 84(6):589-92. PubMed ID: 23278550
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.
    Weidemann W; Reinhardt A; Thate A; Horstkorte R
    Neuromuscul Disord; 2011 Dec; 21(12):824-31. PubMed ID: 21873062
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
    Penner J; Mantey LR; Elgavish S; Ghaderi D; Cirak S; Berger M; Krause S; Lucka L; Voit T; Mitrani-Rosenbaum S; Hinderlich S
    Biochemistry; 2006 Mar; 45(9):2968-77. PubMed ID: 16503651
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Compound heterozygosity of HLA-DRB3*01:01 and HLA-DRB4*01:01 as a potential predictor of fetal neonatal alloimmune thrombocytopenia.
    Loewenthal R; Rosenberg N; Kalt R; Dardik R; Landau M; Yahalom V; Avishai O; Frenkel O; Gazit E; Steinberg DM; Lipitz S; Salomon O
    Transfusion; 2013 Feb; 53(2):344-52. PubMed ID: 22671039
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
    Galeano B; Klootwijk R; Manoli I; Sun M; Ciccone C; Darvish D; Starost MF; Zerfas PM; Hoffmann VJ; Hoogstraten-Miller S; Krasnewich DM; Gahl WA; Huizing M
    J Clin Invest; 2007 Jun; 117(6):1585-94. PubMed ID: 17549255
    [TBL] [Abstract][Full Text] [Related]  

  • 18. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
    Salama I; Hinderlich S; Shlomai Z; Eisenberg I; Krause S; Yarema K; Argov Z; Lochmuller H; Reutter W; Dabby R; Sadeh M; Ben-Bassat H; Mitrani-Rosenbaum S
    Biochem Biophys Res Commun; 2005 Mar; 328(1):221-6. PubMed ID: 15670773
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
    Liewluck T; Pho-Iam T; Limwongse C; Thongnoppakhun W; Boonyapisit K; Raksadawan N; Murayama K; Hayashi YK; Nishino I; Sangruchi T
    Muscle Nerve; 2006 Dec; 34(6):775-8. PubMed ID: 16810679
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
    Kayashima T; Matsuo H; Satoh A; Ohta T; Yoshiura K; Matsumoto N; Nakane Y; Niikawa N; Kishino T
    J Hum Genet; 2002; 47(2):77-9. PubMed ID: 11916006
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.