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Quoted phrase not found in phrase index: "Glycosylphosphatidylinositol biosynthesis defect 15"
Page 1
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. ...
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class …
Paroxysmal nocturnal hemoglobinuria as a molecular disease.
Rosse WF. Rosse WF. Medicine (Baltimore). 1997 Mar;76(2):63-93. doi: 10.1097/00005792-199703000-00001. Medicine (Baltimore). 1997. PMID: 9100736 Free article. Review.
About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. These defects result in a clinical syndrome that includes intravascular hemolysis mediated by complement, unusual venous thromboses, deficits of hematopoiesis, and other mani …
About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. These defects result in a clinical …
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H. Yang J, et al. Mol Genet Genomic Med. 2018 Sep;6(5):739-748. doi: 10.1002/mgg3.428. Epub 2018 Jul 4. Mol Genet Genomic Med. 2018. PMID: 29974678 Free PMC article.
BACKGROUND: Glycosylphosphatidylinositol (GPI) anchoring is a special type of protein posttranslational modification, by which proteins with diverse function are attached to cell membrane through a covalent linkage between the protein and the glycolipid. Phosphatidylinosit …
BACKGROUND: Glycosylphosphatidylinositol (GPI) anchoring is a special type of protein posttranslational modification, by which protei …
PHR1, a pH-regulated gene of Candida albicans, is required for morphogenesis.
Saporito-Irwin SM, Birse CE, Sypherd PS, Fonzi WA. Saporito-Irwin SM, et al. Mol Cell Biol. 1995 Feb;15(2):601-13. doi: 10.1128/MCB.15.2.601. Mol Cell Biol. 1995. PMID: 7823929 Free PMC article.
PHR1 expression was repressed at pH values below 5.5 and induced at more alkaline pH. The predicted amino acid sequence of the PHR1 protein was 56% identical to that of the Saccharomyces cerevisiae Ggp1/Gas1 protein, a highly glycosylated cell surface protein attached to t …
PHR1 expression was repressed at pH values below 5.5 and induced at more alkaline pH. The predicted amino acid sequence of the PHR1 p …
Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats.
Wang SA, Pozdnyakova O, Jorgensen JL, Medeiros LJ, Stachurski D, Anderson M, Raza A, Woda BA. Wang SA, et al. Haematologica. 2009 Jan;94(1):29-37. doi: 10.3324/haematol.13601. Epub 2008 Nov 10. Haematologica. 2009. PMID: 19001281 Free PMC article.
All paroxysmal nocturnal hemoglobinuria-positive cases demonstrated loss of the four glycosylphosphatidylinositol-anchored proteins, with CD16(-)CD66b(-) clones being larger than those of CD55(-)CD59(-) (p<0.05). Altered glycosylphosphatidylinositol-anchored prot …
All paroxysmal nocturnal hemoglobinuria-positive cases demonstrated loss of the four glycosylphosphatidylinositol-anchored proteins, …
Relationship between bone marrow failure syndromes and the presence of glycophosphatidyl inositol-anchored protein-deficient clones.
Maciejewski JP, Rivera C, Kook H, Dunn D, Young NS. Maciejewski JP, et al. Br J Haematol. 2001 Dec;115(4):1015-22. doi: 10.1046/j.1365-2141.2001.03191.x. Br J Haematol. 2001. PMID: 11843844 Free article.
GPI-AP-deficient cells were similarly present in patients with and without karyotypic abnormalities. Our results indicate that the GPI-AP-deficient clones show quantitative and kinetic differences between classic haemolytic PNH and PNH with marrow failure, in which the evo …
GPI-AP-deficient cells were similarly present in patients with and without karyotypic abnormalities. Our results indicate that the GP …
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C. Zwaenepoel I, et al. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. doi: 10.1073/pnas.082515999. Epub 2002 Apr 23. Proc Natl Acad Sci U S A. 2002. PMID: 11972037 Free PMC article.
A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated during a study aimed at identifying transcripts specifically expressed in the inner ear. ...
A 3,673-bp murine cDNA predicted to encode a glycosylphosphatidylinositol-anchored protein of 1,088 amino acids was isolated d …
Deficiency of glycosyl phosphatidylinositol-anchored proteins in polymorphonuclear leukocytes from patients with paroxysmal nocturnal hemoglobinuria with low-grade hemolysis.
Shibuya K, Ninomiya H, Muraki Y, Nagasawa T, Abe T. Shibuya K, et al. Int J Hematol. 1993 Aug;58(1-2):15-20. Int J Hematol. 1993. PMID: 7693026
We experienced a patient with PNH whose grade of hemolysis was reduced during the course of the disease. An analysis of the expression of GPI-anchored proteins on blood cells revealed typical PNH defects in polymorphonuclear leukocytes (PMN), but not in red blood ce …
We experienced a patient with PNH whose grade of hemolysis was reduced during the course of the disease. An analysis of the expressio …