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Quoted phrase not found in phrase index: "Glycosylphosphatidylinositol biosynthesis defect 16"
Page 1
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM. Knaus A, et al. Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. Genome Med. 2018. PMID: 29310717 Free PMC article.
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding mol …
BACKGROUND: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping rece …
Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria.
Hillmen P, Bessler M, Mason PJ, Watkins WM, Luzzatto L. Hillmen P, et al. Proc Natl Acad Sci U S A. 1993 Jun 1;90(11):5272-6. doi: 10.1073/pnas.90.11.5272. Proc Natl Acad Sci U S A. 1993. PMID: 8389477 Free PMC article.
Numerous studies have shown that surface proteins anchored to the membrane via a glycosylphosphatidylinositol (GPI) anchor (including proteins protecting the cell from complement) are deficient on the cells of the PNH clone, leading to the notion that GPI-anchor biosynt …
Numerous studies have shown that surface proteins anchored to the membrane via a glycosylphosphatidylinositol (GPI) anchor (including …
Post-translational modification of the NKG2D ligand RAET1G leads to cell surface expression of a glycosylphosphatidylinositol-linked isoform.
Ohashi M, Eagle RA, Trowsdale J. Ohashi M, et al. J Biol Chem. 2010 May 28;285(22):16408-15. doi: 10.1074/jbc.M109.077636. Epub 2010 Mar 19. J Biol Chem. 2010. PMID: 20304922 Free PMC article.
In human, it interacts with two groups of ligands: the major histocompatibility complex class I chain-related A/B (MICA/B) family and the UL-16 binding protein (ULBP) family, also known as retinoic acid early transcript (RAET1). ...(ii) The surface expression pattern of RA …
In human, it interacts with two groups of ligands: the major histocompatibility complex class I chain-related A/B (MICA/B) family and the UL …
Paroxysmal nocturnal haemoglobinuria: a replacement of haematopoietic tissue?
Schrezenmeier H, Hildebrand A, Rojewski M, Häcker H, Heimpel H, Raghavachar A. Schrezenmeier H, et al. Acta Haematol. 2000;103(1):41-8. doi: 10.1159/000041003. Acta Haematol. 2000. PMID: 10705158
Only 4 patients with initially normal GPI-AP expression developed a GPI-AP-deficient population during follow up after immunosuppressive treatment. (3) Persistence of GPI-AP-deficient cells was observed in 16 patients during a median follow-up time of 774 days. Howe …
Only 4 patients with initially normal GPI-AP expression developed a GPI-AP-deficient population during follow up after immunosuppressive tre …