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111 Possible Causes for FUKUOKA, GPI

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  • Hyperphosphatasia with Mental Retardation Syndrome 4

    West syndrome (infantile spasms). ( 26810914 ) Arita J.H....Barsottini O.G. 2016 31 Quinidine therapy for West syndrome with KCNTI mutation: A case report. ( 27578169 ) Fukuoka[] 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[] There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs).[]

  • Multiple Congenital Anomalies

    The surface expression of GPI-anchored proteins (GPI-APs) on patient granulocytes was lower than that of healthy controls.[] Mary's Hospital, Kurume, Fukuoka 830-8543, Japan. Electronic address: [email protected][] […] pathogenic consequences of the mutation on GPI dependent protein expression.[]

  • Hemolytic Anemia

    Mary's Hospital, 422 Tsubukuhon-machi, Kurume, Fukuoka, 830-8543, Japan.[] KEYWORDS: GPI deficiency; Glucose-6-phosphate isomerase (GPI); Glycolysis; Hemolytic anemia; Portugal[] Sciences , Syarif Hidayatullah State Islamic University , Jakarta , Indonesia. 3 c Division of Structural Biology , Medical Institute of Bioregulation, Kyushu University , Fukuoka[]

  • Mental Retardation

    Author information 1 Department of Thoracic, Endocrine and Pediatric Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. [email protected] Abstract Colonic[] Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI[] […] level of GPI-anchored substrates localized at the cell surface is reduced.[]

  • Rhizomelic Chondrodysplasia Punctata

    Author information 1 Graduate School of Systems Life Sciences, Kyushu University Graduate School, Higashi-ku, Fukuoka, Japan. 2 Department of Biology, Faculty of Sciences,[] Abstract Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI).[] […] mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100 ) Itzkovitz B....Braverman N. 2012 23 Defective lipid remodeling of GPI[]

  • Familial Juvenile Hyperuricemic Nephropathy Type 2

    Japan Yuzo Takada Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka[] It is synthesized as a membrane protein which is attached to the apical membrane by a GPI-anchor facing the tubular lumen; when cleaved off it is excreted in the urine.[] Urinary excretion occurs by proteolytic cleavage of the GPI counterpart at the luminal surface of TAL.[]

  • Bacillus Thuringiensis

    Technology, Iizuka, Fukuoka 820-8502, Japan. [email protected] 5 Biotechnology and Food Research Institute, Fukuoka Industrial Technology Center, 1465-5 Aikawa-machi[] This protein was identified as a GPI-anchored ALP enzyme ( Fernández et al., 2006 ).[] Author information 1 Biotechnology and Food Research Institute, Fukuoka Industrial Technology Center, 1465-5 Aikawa-machi, Kurume, Fukuoka, 839-0861, Japan, [email protected][]

  • Parkinson's Disease

    2) Indirect trisynaptic projections to the GPi via the globus pallidus pars externa (GPe).[] Hideaki Shimizu Department of Molecular Biology, Graduate School of Medical Science, Kyushu University, Fukuoka 812-8582, Japan.[] Naoko Kimura, Akihide Watanabe, Kazutaka Suzuki, Haruyoshi Toyoda, Naotoshi Hakamata, Hideki Fukuoka, Yukihiko Washimi, Yutaka Arahata, Akinori Takeda, Masaki Kondo, Toshiki[]

  • West Syndrome

    Author information 1 Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.[] There are at least 26 genes involved in the biosynthesis and remodelling of GPI anchored proteins (GPI-APs).[] Fukuoka M 1 , Kuki I 2 , Kawawaki H 1 , Okazaki S 1 , Kim K 1 , Hattori Y 1 , Tsuji H 1 , Nukui M 1 , Inoue T 1 , Yoshida Y 3 , Uda T 4 , Kimura S 5 , Mogami Y 5 , Suzuki[]

  • Rasmussen’s Encephalitis

    Takuya Fukuoka, Hidetaka Takeda, Yasuko Ohe, Ichiro Deguchi, Yukitoshi Takahashi and Norio Tanahashi , Anti-glutamate receptor δ2 antibody-positive migrating focal encephalitis[] HPS3109 HPS3110 HPS3111 HPS3112 高ホスファターゼ症-精神遅滞症候群 先天性GPI欠損症、先天性糖鎖合成異常症 1 不要 HPS2989 HPS2990 HPS2991 HPS2992 HPS2993 HPS2994[] 先天性グリコシルホスファチジルイノシトール(GPI)欠損症 Glycosylphosphatidylinositol(GPI) anchor deficiency 先天性グリコシルホスファチジルイノシトール(GPI)欠損症 1 不要 HPS3102 HPS3103 HPS3104 HPS3105 HPS3106 HPS3107 2 不要 HPS3108[]

Further symptoms