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877 Possible Causes for GPI,, LEU339PRO

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  • Hyperphosphatasia - Intellectual Disability Syndrome

    There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins (GPI-APs).[jstage.jst.go.jp] […] of metabolism Congenital disorders of lipid/glycolipid metabolism H01488 Hyperphosphatasia with mental retardation syndrome Pathway hsa00563 Glycosylphosphatidylinositol (GPI[genome.jp] ) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI-anchor.[spiral.imperial.ac.uk]

    Missing: LEU339PRO
  • Paroxysmal Nocturnal Hemoglobinuria

    We report here the first case of CN-6pLOH in a Japanese PNH patient only in GPI-anchored protein positive (59%) granulocytes, but not in GPI-anchored protein negative (41%[ncbi.nlm.nih.gov] Failure to synthesize GPI anchors leads to an absence of all proteins that utilize GPI to attach to the plasma membrane.[ncbi.nlm.nih.gov] PIGA is essential for GPI anchor synthesis, whereas PIGT is essential for attachment of the preassembled GPI anchor to proteins.[ncbi.nlm.nih.gov]

    Missing: LEU339PRO
  • Hyperphosphatasia-Intellectual Disability Syndrome 1

    There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins (GPI-APs).[jstage.jst.go.jp] […] our understanding of how AP is anchored by GPI to the plasma membrane.[link.springer.com] ホスファターゼ症-精神遅滞症候群 [DS: H01488 ] 概要 先天性 GPI 欠損症は GPI 関連遺伝子の変異により発症する遺伝性の疾患である。[genome.jp]

    Missing: LEU339PRO
  • Hyperphosphatasia with Mental Retardation Syndrome 3

    Secretion of ALP required GPI transamidase that cleaves the C-terminal GPI attachment signal peptide and replaces it with GPI.[bloodjournal.org] It is required for stable association between GPI-anchored proteins (GPI-APs) and the cell-surface membrane rafts.[iofbonehealth.org] There are at least 26 genes involved in the biosynthesis of GPI-anchored proteins (GPI-APs). 1 Recently, many inherited GPI deficiencies (IGDs) were found using whole-exome[neurology.org]

    Missing: LEU339PRO
  • Hyperphosphatasia with Mental Retardation Syndrome 2

    PGAP2 is involved in fatty-acid GPI-anchor remodeling , which occurs in the Golgi apparatus and is required for stable association between GPI-anchored proteins and the cell-surface[pesquisa.bvsalud.org] There are at least 26 genes involved in the biosynthesis of GPI-anchored proteins (GPI-APs). 1 Recently, many inherited GPI deficiencies (IGDs) were found using whole-exome[neurology.org] PIGO gene, such as PIGV gene, is coinvolved in the glycosylphosphatidylinositol (GPI) anchor synthesis pathway, and PIGO mutations lead to a defect in GPI anchor synthesis[iofbonehealth.org]

    Missing: LEU339PRO
  • Hemoglobinuria

    GPI-linked proteins, which are normally present on red cells and regulate red cell survival, are absent in patients with PNH.[clinicaltrials.gov] […] by which aerolysin was used to identify GPI ( ) and GPI ( ) WBCs.[academic.oup.com] The defective biosynthesis in GPI that anchors many proteins onto the plasma membrane, leads to defective cell surface expression of GPI‐anchored proteins.[els.net]

    Missing: LEU339PRO
  • Hyperphosphatasia with Mental Retardation Syndrome 4

    There are at least 26 genes involved in the biosynthesis of GPI-anchored proteins (GPI-APs). 1 Recently, many inherited GPI deficiencies (IGDs) were found using whole-exome[neurology.org] There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs).[jmg.bmj.com] PGAP2 and PGAP3 mutations suggest the importance of the later GPI-anchor remodelling steps for normal neuronal development (see also HPRMS3).[iofbonehealth.org]

    Missing: LEU339PRO
  • Bivalirudin

    BACKGROUND/PURPOSE: Numerous GPIs are available for PCI.[ncbi.nlm.nih.gov] RESULTS: In 714 patients bivalirudin was used for PCI, this cohort was compared to 683 patients with heparin and provisional GPIs.[ncbi.nlm.nih.gov] […] when compared to heparin plus routine GPI.[ncbi.nlm.nih.gov]

    Missing: LEU339PRO
  • Paroxysmal Nocturnal Hemoglobinuria Type 1

    PNH results in a deficiency of cell-surface glycosylphosphatidylinositol (GPI)-anchored proteins, including complement pathway regulatory proteins.[arupconsult.com] One of the more perplexing problems in identifying PNH is the variability in GPI expression, resulting in patients that range from mild to severe suppression of GPI synthesis[clinicaladvisor.com] Cells harboring PIG-A mutations are deficient in a class of proteins called GPI-anchored proteins.[hopkinsmedicine.org]

    Missing: LEU339PRO
  • Meige Syndrome

    However, the experience with GPi-DBS in Meige syndrome is limited.[ncbi.nlm.nih.gov] The patient received a bilateral ventroposterolateral GPi implant.[ncbi.nlm.nih.gov] MATERIALS AND METHODS: We report on our experience in using bilateral GPi DBS in 3 cases of MS.[ncbi.nlm.nih.gov]

    Missing: LEU339PRO

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