Disease: Glycosylphosphatidylinositol deficiency
- <sub>Inducible Nitric Oxide Synthase Activity Mediates TNF-α-Induced Endothelial</sub> <sub>Cell Dysfunction</sub>
- A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
- A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
- A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation
- A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
- A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia
- A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma
- A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency
- A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism
- A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
- A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder
- Accumulated precursors of specific GPI-anchored proteins upregulate GPI biosynthesis with ARV1
- Advances in research for pathogenesis of paroxysmal nocturnal hemoglobinuria
- Advances in the creation of animal models of paroxysmal nocturnal hemoglobinuria
- Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report
- Alternative splicing encodes functional intracellular CD59 isoforms that mediate insulin secretion and are down-regulated in diabetic islets
- An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1
- C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures
- Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy
- Case report: Functional characterization of a <em>de novo</em> c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
- CD109 on Dendritic Cells Regulates Airway Hyperreactivity and Eosinophilic Airway Inflammation
- CD24 is expressed on FoxP3<sup>+</sup> regulatory T cells and regulates their function
- Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency
- Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation
- Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders
- CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model
- Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy
- Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
- Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes
- Contribution and limits of CD157 in the detection of the paroxysmal nocturnal hemoglobinuria clone: a case report
- Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
- Defected lipid rafts suppress cavin1-dependent IFN-α signaling endosome in paroxysmal nocturnal hemoglobinuria
- Deficiency of GPI Glycan Modification by Ethanolamine Phosphate Results in Increased Adhesion and Immune Resistance of <em>Aspergillus fumigatus</em>
- Diagnosis of immune pathophysiology in patients with bone marrow failure
- Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency
- Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review
- Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations
- Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins
- Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy
- Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins
- Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients
- Excluding Digenic Inheritance of <em>PGAP2</em> and <em>PGAP3</em> Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with <em>PGAP2</em> Gene Variants in Hyperphosphatasia with Mental Reta
- Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome
- Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <em>GPAA1</em>
- Expression and one-step purification of active LPL contemplated by biophysical considerations
- Familial immune-mediated aplastic anaemia in six different families
- Frequencies of glycosylphosphatidylinositol (GPI)-deficient cells using high-sensitivity flow cytometry as per the 2018 ICCS/ESCCA consensus guideline in patients with hematologic malignancy, aplastic anemia, or cytopenia
- Further delineation of PIGB-related early infantile epileptic encephalopathy
- Generating anchors only to lose them: The unusual story of glycosylphosphatidylinositol anchor biosynthesis and remodeling in yeast and fungi
- Glycosylphosphatidylinositol (GPI) anchored protein deficiency serves as a reliable reporter of Pig-a gene Mutation: Support from an in vitro assay based on L5178Y/Tk<sup>+/-</sup> cells and the CD90.2 antigen
- Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by <em>GPAA1</em> gene mutation: a rare disease study
- Glypican 4 mediates Wnt transport between germ layers via signaling filopodia
- Hedgehog pathway modulation by glypican 3-conjugated heparan sulfate
- High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency
- Hyaluronidase 6 Does Not Affect Cumulus-Oocyte Complex Dispersal and Male Mice Fertility
- Identification of a novel splicing variant in the phosphatidylinositol glycan class S (<em>PIGS</em>) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report
- IgLON4 Regulates Myogenesis via Promoting Cell Adhesion and Maintaining Myotube Orientation
- Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders
- Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives
- Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy
- Inherited GPI deficiency; a new disease with intellectual disability and epilepsy
- Joint researches supported by Japanese Society of Child Neurology (JSCN) The Committee of Joint Researches
- Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models
- Longitudinal study of t-cell somatic mutations conferring glycosylphosphatidylinositol-anchor deficiency in gulf war I veterans exposed to depleted uranium
- Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis
- Meflin-positive cancer-associated fibroblasts enhance tumor response to immune checkpoint blockade
- Molecular analysis of glycosylphosphatidylinositol anchor deficient aerolysin resistant isolates in gulf war i veterans exposed to depleted uranium
- Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
- Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
- Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
- Natural killer (NK) cell function in paroxysmal nocturnal hemoglobinuria: a deficiency of NK cells, but not an NK cell deficiency
- Neuronal growth regulator 1 promotes adipocyte lipid trafficking via interaction with CD36
- On pathways and blind alleys-The importance of biomarkers in vitamin B<sub>6</sub> -dependent epilepsies
- Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties
- Phosphacan acts as a repulsive cue in murine and rat cerebellar granule cells in a TAG-1/GD3 rafts-dependent manner
- PIGF deficiency causes a phenotype overlapping with DOORS syndrome
- PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype
- PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
- PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review
- PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature
- Plasma Proteomics Characteristics of Subclinical Vitamin E Deficiency of Dairy Cows During Early Lactation
- Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study
- Relationship of paroxysmal nocturnal hemoglobinuria (PNH) granulocyte clone size to disease burden and risk of major vascular events in untreated patients: results from the International PNH Registry
- Remodeling-defective GPI-anchored proteins on the plasma membrane activate the spindle assembly checkpoint
- Rescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides
- Selenoprotein I deficiency in T cells promotes differentiation into tolerant phenotypes while decreasing Th17 pathology
- Sequential hydrolysis of FAD by ecto-5' nucleotidase CD73 and alkaline phosphatase is required for uptake of vitamin B<sub>2</sub> into cells
- Severe hypertriglyceridemia caused by Gpihbp1 deficiency facilitates vascular remodeling through increasing endothelial activation and oxidative stress
- Silencing uridine diphosphate N-acetylglucosamine pyrophosphorylase gene impairs larval development in Henosepilachna vigintioctopunctata
- Somatic mutations and clonal expansions in paroxysmal nocturnal hemoglobinuria
- Sperm hyaluronidase is critical to mammals' fertilization for its ability to disperse cumulus-oocyte complex layer
- The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
- The complement alternative pathway in paroxysmal nocturnal hemoglobinuria: From a pathogenic mechanism to a therapeutic target
- The effectiveness of immunosuppressive therapy in patients with aplastic anaemia secondary to chemoradiotherapy for cancers
- The Glycosylphosphatidylinositol-Anchored Superoxide Dismutase of <em>Scedosporium apiospermum</em> Protects the Conidia from Oxidative Stress
- The NK cell receptor NKp46 recognizes ecto-calreticulin on ER-stressed cells
- The role of glycosylphosphatidylinositol phospholipase C in membrane trafficking in Trypanosoma brucei
- The Role of T Lymphocytes in the Pathogenesis of Paroxysmal Nocturnal Hemoglobinuria
- The yapsin family of aspartyl proteases regulate glucose homeostasis in Candida glabrata
- Transfer of Proteins from Cultured Human Adipose to Blood Cells and Induction of Anabolic Phenotype Are Controlled by Serum, Insulin and Sulfonylurea Drugs