المؤلفون: Bulloch MS; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., Huynh LK; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., Kennedy K; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., Ralton JE; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., McConville MJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., Ralph SA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.

المصدر: PLoS pathogens [PLoS Pathog] 2024 Sep 06; Vol. 20 (9), pp. e1012484. Date of Electronic Publication: 2024 Sep 06 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7374 (Electronic) Linking ISSN: 15537366 NLM ISO Abbreviation: PLoS Pathog Subsets: MEDLINE

مواضيع طبية MeSH: Plasmodium falciparum*/metabolism , Apicoplasts*/metabolism , Glycosylphosphatidylinositols*/metabolism , Glycosylphosphatidylinositols*/biosynthesis , Terpenes*/metabolism, Protozoan Proteins/metabolism ; Protozoan Proteins/genetics ; Erythrocytes/parasitology ; Erythrocytes/metabolism ; Humans ; Malaria, Falciparum/parasitology ; Malaria, Falciparum/metabolism ; Animals ; Merozoites/metabolism

المؤلفون: Nagar R; Wellcome Centre for Anti-Infectives Research, School of Life Sciences, University of Dundee, Dundee, UK., Garcia Castillo SS; Department of Molecular Microbiology & Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA; Johns Hopkins Malaria Institute, Johns Hopkins University, Baltimore, Maryland, USA., Pinzon-Ortiz M; Department of Medical Parsitology, New York University School of Medicine, New York, New York, USA., Patray S; Department of Molecular Microbiology & Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA., Coppi A; Department of Medical Parsitology, New York University School of Medicine, New York, New York, USA., Kanatani S; Department of Molecular Microbiology & Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA., Moritz RL; Institute for Systems Biology, Seattle, Washington, USA., Swearingen KE; Institute for Systems Biology, Seattle, Washington, USA., Ferguson MAJ; Wellcome Centre for Anti-Infectives Research, School of Life Sciences, University of Dundee, Dundee, UK. Electronic address: m.a.j.ferguson@dundee.ac.uk., Sinnis P; Department of Molecular Microbiology & Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA; Johns Hopkins Malaria Institute, Johns Hopkins University, Baltimore, Maryland, USA. Electronic address: psinnis1@jhu.edu.

المصدر: The Journal of biological chemistry [J Biol Chem] 2024 Aug; Vol. 300 (8), pp. 107557. Date of Electronic Publication: 2024 Jul 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Protozoan Proteins*/metabolism , Glycosylphosphatidylinositols*/metabolism , Glycosylphosphatidylinositols*/chemistry , Cell Membrane*/metabolism , Sporozoites*/metabolism , Plasmodium falciparum*/metabolism, Animals ; Membrane Proteins/metabolism ; Humans

المؤلفون: Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Sudhakar S; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Biswas A; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Massey F; Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Turchetti V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Lau T; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Cook E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Alvi JR; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Jewell JL; Department of Paediatric Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Orsini A; Department of Paediatric Neurology, University Hospital of Pisa, 56126 Pisa, Italy., Vignoli A; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy., Federico Z; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy., Rosenblum J; Department of Clinical Genetics, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Schoonjans AS; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., de Wachter M; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Delgado Alvarez I; Department of Neuroradiology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Felipe-Rucián A; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut 71515, Egypt., Haider S; Department of Paediatrics, Wah Medical College NUMS, Wah Cantonment, Punjab 47000, Pakistan., Zaman M; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Banu S; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Anwaar N; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Rahman F; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Maqbool S; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Yadav R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Salpietro V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Patel R; Department of Paediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Houston, TX 77030, USA., Radhakrishnan R; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Prabhu SP; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Lichtenbelt K; Department of Clinical Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Osaka 565, Japan., Löbel U; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Wakeling E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Jones W; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Hay E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Bhate S; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Jacques TS; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Mirsky DM; Department of Neuroradiology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA., Whitehead MT; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt., Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Jansen AC; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Lequin M; Department of Radiology and Nuclear Medicine, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., de Vries LS; Department of Neonatology, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Edmondson AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Campeau PM; Department of Paediatrics, CHU Sainte Justine Research Centre, University of Montreal, Montreal QC H3T 1C5, Canada., Houlden H; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., McTague A; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK., Efthymiou S; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK., Mankad K; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.

المصدر: Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2775-2790.

نوع المنشور: Journal Article; Observational Study; Multicenter Study

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/deficiency , Glycosylphosphatidylinositols*/genetics, Humans ; Male ; Female ; Child, Preschool ; Child ; Adolescent ; Retrospective Studies ; Infant ; Adult ; Intellectual Disability/genetics ; Developmental Disabilities/genetics ; Young Adult ; Congenital Disorders of Glycosylation/genetics ; Phenotype ; Seizures/genetics

SCR Disease Name: Glycosylphosphatidylinositol deficiency

المؤلفون: Watanabe Y; Department of Aquatic Bioscience, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1, Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan. yuhowatanabe@g.ecc.u-tokyo.ac.jp., Asada M; National Research Center for Protozoan Diseases, Obihiro University of Agriculture and Veterinary Medicine, Inada-Cho, Obihiro, Hokkaido, 080-8555, Japan., Inokuchi M; Department of Aquatic Bioscience, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1, Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan., Kotake M; Department of Aquatic Bioscience, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1, Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan., Yoshinaga T; Department of Aquatic Bioscience, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1, Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan.

المصدر: Molecular biotechnology [Mol Biotechnol] 2024 Aug; Vol. 66 (8), pp. 1907-1918. Date of Electronic Publication: 2023 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9423533 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0305 (Electronic) Linking ISSN: 10736085 NLM ISO Abbreviation: Mol Biotechnol Subsets: MEDLINE

مواضيع طبية MeSH: Tetrahymena thermophila*/genetics , Tetrahymena thermophila*/metabolism , Protein Sorting Signals*/genetics , Glycosylphosphatidylinositols*/metabolism , Glycosylphosphatidylinositols*/chemistry, Animals ; Antigens, Protozoan/genetics ; Antigens, Protozoan/immunology ; Antigens, Protozoan/metabolism ; Antigens, Protozoan/chemistry ; Ciliophora/metabolism ; Ciliophora/genetics ; Protozoan Proteins/genetics ; Protozoan Proteins/immunology ; Protozoan Proteins/metabolism ; Ciliophora Infections/parasitology ; Ciliophora Infections/immunology ; Ciliophora Infections/veterinary ; Fish Diseases/parasitology ; Fish Diseases/immunology ; Anthozoa/parasitology ; Anthozoa/metabolism ; Anthozoa/immunology ; Anthozoa/genetics

المؤلفون: Li S; Children's Medical Center, Peking University First Hospital, Beijing 100034, China., Tang Q; College of Chemistry and Molecular Engineering, Peking University, Beijing 100871, China.; Beijing National Laboratory for Molecular Sciences, Peking University, Beijing 100871, China., Jiang Y; Children's Medical Center, Peking University First Hospital, Beijing 100034, China., Chen X; College of Chemistry and Molecular Engineering, Peking University, Beijing 100871, China.; Beijing National Laboratory for Molecular Sciences, Peking University, Beijing 100871, China.; Peking-Tsinghua Center for Life Sciences, Peking University, Beijing 100871, China.; Synthetic and Functional Biomolecules Center, Peking University, Beijing 100871, China.; Key Laboratory of Bioorganic Chemistry and Molecular Engineering of Ministry of Education, Peking University, Beijing 100871, China.

المصدر: Acta biochimica et biophysica Sinica [Acta Biochim Biophys Sin (Shanghai)] 2024 Jul 30; Vol. 56 (8), pp. 1234-1243.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: China Science Publishing & Media Ltd Country of Publication: China NLM ID: 101206716 Publication Model: Print Cited Medium: Internet ISSN: 1745-7270 (Electronic) Linking ISSN: 16729145 NLM ISO Abbreviation: Acta Biochim Biophys Sin (Shanghai) Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/deficiency , Glycosylphosphatidylinositols*/metabolism , Glycosylphosphatidylinositols*/genetics, Humans ; Germ-Line Mutation ; Carbohydrate Metabolism, Inborn Errors/genetics ; Carbohydrate Metabolism, Inborn Errors/metabolism ; Seizures

SCR Disease Name: Glycosylphosphatidylinositol deficiency

المؤلفون: Mukai T; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato S; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Tanaka H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kuroda Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kitaoka H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Ito A; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Shitara Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kashima K; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Takami H; Department of Neurosurgery, The University of Tokyo Hospital, Tokyo, Japan., Takahashi N; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato M; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2452.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/deficiency , Glycosylphosphatidylinositols*/genetics , Uniparental Disomy*/genetics , Uniparental Disomy*/pathology, Humans ; Male ; Carboxylic Ester Hydrolases ; Frameshift Mutation ; Homozygote ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/pathology ; Phosphorus Metabolism Disorders/genetics ; Phosphorus Metabolism Disorders/pathology ; Receptors, Cell Surface ; Seizures ; Infant, Newborn

SCR Disease Name: Glycosylphosphatidylinositol deficiency

المؤلفون: Figueiredo R; LAQV/REQUIMTE, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal., Costa M; LAQV/REQUIMTE, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal.; Instituto Gulbenkian de Ciência, Rua da Quinta Grande 6, 2780-156, Oeiras, Portugal., Moreira D; LAQV/REQUIMTE, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal., Moreira M; LAQV/REQUIMTE, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal., Noble J; School of Plant Sciences, University of Arizona, Tucson, AZ, 85721, USA., Pereira LG; GreenUPorto - Sustainable Agrifood Production Research Centre, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal., Melo P; GreenUPorto - Sustainable Agrifood Production Research Centre, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal., Palanivelu R; School of Plant Sciences, University of Arizona, Tucson, AZ, 85721, USA., Coimbra S; LAQV/REQUIMTE, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal., Pereira AM; LAQV/REQUIMTE, Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua do Campo Alegre s/n, 4169-007, Porto, Portugal. ambacpereira@fc.up.pt.

المصدر: Plant reproduction [Plant Reprod] 2024 Sep; Vol. 37 (3), pp. 341-353. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101602701 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2194-7961 (Electronic) Linking ISSN: 21947953 NLM ISO Abbreviation: Plant Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Arabidopsis Proteins*/metabolism , Arabidopsis Proteins*/genetics , Arabidopsis*/metabolism , Arabidopsis*/genetics , Arabidopsis*/physiology , Glycosylphosphatidylinositols*/metabolism , Ovule*/metabolism , Ovule*/genetics , Ovule*/physiology, Plant Proteins/metabolism ; Plant Proteins/genetics ; Mucoproteins/metabolism ; Mucoproteins/genetics ; Pollen Tube/metabolism ; Pollen Tube/genetics

المؤلفون: Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini,' Genoa, Italy., D'Onofrio G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini,' Genoa, Italy., Pisati A; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini,' Genoa, Italy., Roberti R; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy., Amadori E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini,' Genoa, Italy., Bosch F; Children's Hospital, Fürth, Germany., de Souza CFM; Medical Genetics Service, HCPA, Porto Alegre, Brazil., Thomas A; University of Alabama, Birmingham, Alabama, USA., Russo E; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini,' Genoa, Italy., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.

المصدر: Cannabis and cannabinoid research [Cannabis Cannabinoid Res] 2024 Aug; Vol. 9 (4), pp. 990-995. Date of Electronic Publication: 2023 Mar 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101684827 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2378-8763 (Electronic) Linking ISSN: 23788763 NLM ISO Abbreviation: Cannabis Cannabinoid Res Subsets: MEDLINE

مواضيع طبية MeSH: Drug Resistant Epilepsy*/drug therapy , Cannabidiol*/therapeutic use , Cannabidiol*/pharmacology , Glycosylphosphatidylinositols*/deficiency , Anticonvulsants*/therapeutic use, Humans ; Male ; Female ; Infant ; Child, Preschool ; Treatment Outcome ; Child ; Drug Therapy, Combination ; Seizures

SCR Disease Name: Glycosylphosphatidylinositol deficiency

المؤلفون: Wu H; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Wu Z; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Li H; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Wang Z; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Chen Y; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Bao J; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Chen B; School of Molecular Science, University of Western Australia, Perth, WA, Australia., Xu S; Department of Computer Information Systems, Georgia State University, Atlanta, GA, United States., Xia E; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Ye D; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China., Dai X; Department of Breast Surgery, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.

المصدر: Frontiers in immunology [Front Immunol] 2024 Jul 02; Vol. 15, pp. 1392940. Date of Electronic Publication: 2024 Jul 02 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Breast Neoplasms*/immunology , Breast Neoplasms*/diagnosis , Breast Neoplasms*/metabolism , Breast Neoplasms*/mortality , Glycosylphosphatidylinositols*/metabolism , Biomarkers, Tumor* , Machine Learning* , Tumor Microenvironment*/immunology, Humans ; Female ; Prognosis ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/metabolism ; Lymphocytes, Tumor-Infiltrating/immunology ; Lymphocytes, Tumor-Infiltrating/metabolism ; T-Cell Exhaustion

المؤلفون: Tang YH; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Avenue, Wuxi, Jiangsu 214122, China., Leng JX; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Avenue, Wuxi, Jiangsu 214122, China., Yang G; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Avenue, Wuxi, Jiangsu 214122, China., Gao XD; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Avenue, Wuxi, Jiangsu 214122, China., Liu YS; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Avenue, Wuxi, Jiangsu 214122, China., Fujita M; Key Laboratory of Carbohydrate Chemistry and Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Avenue, Wuxi, Jiangsu 214122, China.; Institute for Glyco-core Research (iGCORE), Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan.

المصدر: Journal of biochemistry [J Biochem] 2024 Jul 01; Vol. 176 (1), pp. 23-34.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0376600 Publication Model: Print Cited Medium: Internet ISSN: 1756-2651 (Electronic) Linking ISSN: 0021924X NLM ISO Abbreviation: J Biochem Subsets: MEDLINE

مواضيع طبية MeSH: Antigens, Tumor-Associated, Carbohydrate*/metabolism , CA-125 Antigen*/metabolism , Glycosylphosphatidylinositols*/metabolism , Galactosyltransferases*/metabolism , Galactosyltransferases*/genetics, Humans ; HEK293 Cells ; Membrane Proteins/metabolism ; Membrane Proteins/genetics ; Female