BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 19168132)

  • 1. Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG.
    Almeida A; Layton M; Karadimitris A
    Biochim Biophys Acta; 2009 Sep; 1792(9):874-80. PubMed ID: 19168132
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
    Almeida AM; Murakami Y; Layton DM; Hillmen P; Sellick GS; Maeda Y; Richards S; Patterson S; Kotsianidis I; Mollica L; Crawford DH; Baker A; Ferguson M; Roberts I; Houlston R; Kinoshita T; Karadimitris A
    Nat Med; 2006 Jul; 12(7):846-51. PubMed ID: 16767100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
    Chiyonobu T; Inoue N; Morimoto M; Kinoshita T; Murakami Y
    J Med Genet; 2014 Mar; 51(3):203-7. PubMed ID: 24367057
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Inherited GPI deficiency; a new disease with intellectual disability and epilepsy].
    Murakami Y; Kinoshita T
    Nihon Rinsho; 2015 Jul; 73(7):1227-37. PubMed ID: 26165085
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeted therapy for inherited GPI deficiency.
    Almeida AM; Murakami Y; Baker A; Maeda Y; Roberts IA; Kinoshita T; Layton DM; Karadimitris A
    N Engl J Med; 2007 Apr; 356(16):1641-7. PubMed ID: 17442906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Altered lipid raft composition and defective cell death signal transduction in glycosylphosphatidylinositol anchor-deficient PIG-A mutant cells.
    Szpurka H; Schade AE; Jankowska AM; Maciejewski JP
    Br J Haematol; 2008 Jul; 142(3):413-22. PubMed ID: 18544084
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inherited GPI deficiency: a disorder of histone hypoacetylation.
    Georgiou E; Layton M; Karadimitris A
    Birth Defects Res C Embryo Today; 2009 Dec; 87(4):327-34. PubMed ID: 19960552
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology.
    Bessler M; Schaefer A; Keller P
    Transfus Med Rev; 2001 Oct; 15(4):255-67. PubMed ID: 11668433
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
    Murakami Y; Kanzawa N; Saito K; Krawitz PM; Mundlos S; Robinson PN; Karadimitris A; Maeda Y; Kinoshita T
    J Biol Chem; 2012 Feb; 287(9):6318-25. PubMed ID: 22228761
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
    Murakami Y; Nguyen TTM; Baratang N; Raju PK; Knaus A; Ellard S; Jones G; Lace B; Rousseau J; Ajeawung NF; Kamei A; Minase G; Akasaka M; Araya N; Koshimizu E; van den Ende J; Erger F; Altmüller J; Krumina Z; Strautmanis J; Inashkina I; Stavusis J; El-Gharbawy A; Sebastian J; Puri RD; Kulshrestha S; Verma IC; Maier EM; Haack TB; Israni A; Baptista J; Gunning A; Rosenfeld JA; Liu P; Joosten M; Rocha ME; Hashem MO; Aldhalaan HM; Alkuraya FS; Miyatake S; Matsumoto N; Krawitz PM; Rossignol E; Kinoshita T; Campeau PM
    Am J Hum Genet; 2019 Aug; 105(2):384-394. PubMed ID: 31256876
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Structure and chromosomal localization of the GPI-anchor synthesis gene PIGF and its pseudogene psi PIGF.
    Ohishi K; Inoue N; Endo Y; Fujita T; Takeda J; Kinoshita T
    Genomics; 1995 Oct; 29(3):804-7. PubMed ID: 8575782
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The function of GPI-anchored proteins in T cell development, activation and regulation of homeostasis.
    Marmor MD; Julius M
    J Biol Regul Homeost Agents; 2000; 14(2):99-115. PubMed ID: 10841285
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital Defects in the Expression of the Glycosylphosphatidylinositol-Anchored Complement Regulatory Proteins CD59 and Decay-Accelerating Factor.
    Kinoshita T
    Semin Hematol; 2018 Jul; 55(3):136-140. PubMed ID: 30032750
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
    Johnstone DL; Nguyen TT; Murakami Y; Kernohan KD; Tétreault M; Goldsmith C; Doja A; Wagner JD; Huang L; Hartley T; St-Denis A; le Deist F; Majewski J; Bulman DE; ; Kinoshita T; Dyment DA; Boycott KM; Campeau PM
    Hum Mol Genet; 2017 May; 26(9):1706-1715. PubMed ID: 28334793
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular basis of paroxysmal nocturnal hemoglobinuria.
    Parker CJ
    Stem Cells; 1996 Jul; 14(4):396-411. PubMed ID: 8843541
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
    Peron A; Iascone M; Salvatici E; Cavirani B; Marchetti D; Corno S; Vignoli A
    Am J Med Genet A; 2020 Jun; 182(6):1477-1482. PubMed ID: 32198969
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
    Pode-Shakked B; Heimer G; Vilboux T; Marek-Yagel D; Ben-Zeev B; Davids M; Ferreira CR; Philosoph AM; Veber A; Pode-Shakked N; Kenet G; Soudack M; Hoffmann C; Vernitsky H; Safaniev M; Lodzki M; Lahad A; Shouval DS; Levinkopf D; Weiss B; Barg AA; Daka A; Amariglio N; Malicdan MCV; Gahl WA; Anikster Y
    Mol Genet Metab; 2019; 128(1-2):151-161. PubMed ID: 31445883
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Mutations in the PIG-A gene lead to GPI-deficiency in paroxysmal nocturnal hemoglobinuria].
    Ostendorf T; Schubert J; Schmidt RE
    Immun Infekt; 1994 Aug; 22(4):154-5. PubMed ID: 7927481
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glycosyl phosphatidylinositol anchor biosynthesis is essential for maintaining epithelial integrity during Caenorhabditis elegans embryogenesis.
    Budirahardja Y; Doan TD; Zaidel-Bar R
    PLoS Genet; 2015 Mar; 11(3):e1005082. PubMed ID: 25807459
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.