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: Meuser E; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Chang K; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas., Walters A; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Hurley JJ; Department of Gastroenterology, Cwm Taf Morgannwg University Health Board, Llantrisant, United Kingdom., West HD; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Perry I; Institute of Life Science 1, Swansea University, Swansea, United Kingdom., Mort M; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Reyes-Uribe L; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas., Truscott R; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Jones N; Institute of Life Science 1, Swansea University, Swansea, United Kingdom., Lawrence R; Institute of Life Science 1, Swansea University, Swansea, United Kingdom., Jenkins G; Institute of Life Science 1, Swansea University, Swansea, United Kingdom., Giles P; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Dolwani S; Division of Population Medicine, School of Medicine, Cardiff University, United Kingdom., Al-Sarireh B; Department of Gastroenterology, Swansea Bay University Health Board, Swansea, United Kingdom., Hawkes N; Department of Gastroenterology, Cwm Taf Morgannwg University Health Board, Llantrisant, United Kingdom., Short E; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom.; Department of Cellular Pathology, Swansea Bay University Health Board, Swansea, United Kingdom., Williams GT; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Taggart MW; Department of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas., Luetchford K; Cellesce Limited, Cardiff Medicentre, Cardiff, United Kingdom., Lynch PM; Department of Gastroenterology, Hepatology and Nutrition, UT MD Anderson Cancer Center, Houston, Texas.; Clinical Cancer Genetics Program, UT MD Anderson Cancer Center, Houston, Texas., Terlouw D; Leiden University Medical Center (LUMC), Department of Clinical Genetics, Leiden, The Netherlands., Nielsen M; Leiden University Medical Center (LUMC), Department of Clinical Genetics, Leiden, The Netherlands., Walton SJ; St Mark's Centre for Familial Intestinal Cancer, St Marks Hospital, London, United Kingdom.; Department of Surgery and Cancer, Faculty of Medicine, Imperial College, London, United Kingdom., Latchford A; St Mark's Centre for Familial Intestinal Cancer, St Marks Hospital, London, United Kingdom.; Department of Surgery and Cancer, Faculty of Medicine, Imperial College, London, United Kingdom., Clark SK; St Mark's Centre for Familial Intestinal Cancer, St Marks Hospital, London, United Kingdom.; Department of Surgery and Cancer, Faculty of Medicine, Imperial College, London, United Kingdom., Sampson JR; Division of Cancer and Genetics, School of Medicine, Cardiff University, United Kingdom., Vilar E; Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas.; Clinical Cancer Genetics Program, UT MD Anderson Cancer Center, Houston, Texas., Thomas LE; Institute of Life Science 1, Swansea University, Swansea, United Kingdom.

المصدر: Molecular cancer research : MCR [Mol Cancer Res] 2024 Jun 04; Vol. 22 (6), pp. 515-523.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101150042 Publication Model: Print Cited Medium: Internet ISSN: 1557-3125 (Electronic) Linking ISSN: 15417786 NLM ISO Abbreviation: Mol Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/metabolism , Glycosylphosphatidylinositols*/genetics , Duodenal Neoplasms*/genetics , Duodenal Neoplasms*/metabolism , Duodenal Neoplasms*/pathology , Mutation* , Adenomatous Polyposis Coli*/genetics , Adenomatous Polyposis Coli*/metabolism , Adenomatous Polyposis Coli*/pathology, Humans ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Carcinogenesis/genetics ; Male ; Female

المؤلفون: Álvarez-Sánchez A; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain., Grinat J; Epigenetics Programme, The Babraham Institute, Babraham Research Campus, Cambridge, UK., Doria-Borrell P; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain., Mellado-López M; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain., Pedrera-Alcócer É; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain., Malenchini M; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain., Meseguer S; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain., Hemberger M; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada., Pérez-García V; Centro de Investigación Príncipe Felipe, Calle de Eduardo Primo Yúfera, 3, 46012, Valencia, Spain. vperez@cipf.es.; Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain. vperez@cipf.es.

المصدر: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 May 31; Vol. 81 (1), pp. 246. Date of Electronic Publication: 2024 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

مواضيع طبية MeSH: Trophoblasts*/metabolism , Trophoblasts*/cytology , Cell Differentiation* , Placentation*/genetics , Glycosylphosphatidylinositols*/metabolism , Glycosylphosphatidylinositols*/biosynthesis, Female ; Pregnancy ; Animals ; Humans ; Mice ; Placenta/metabolism ; Placenta/cytology ; Wnt Signaling Pathway ; Pre-Eclampsia/metabolism ; Pre-Eclampsia/genetics ; Pre-Eclampsia/pathology ; Endoplasmic Reticulum/metabolism ; Biosynthetic Pathways/genetics ; Unfolded Protein Response ; CRISPR-Cas Systems

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

المؤلفون: Thompson MD; Krembil Brain Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, University of Bonn, 53127 Bonn, Germany.

المصدر: Genes [Genes (Basel)] 2024 May 14; Vol. 15 (5). Date of Electronic Publication: 2024 May 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Developmental Disabilities*/genetics , Glycosylphosphatidylinositols*/genetics , Congenital Disorders of Glycosylation*/genetics, Humans ; Phenotype ; Male ; Mutation ; Female ; Membrane Proteins/genetics ; Mannosyltransferases

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: Thorpe HJ; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Owings KG; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Aziz MC; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Haller M; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Coelho E; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Chow CY; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

المصدر: G3 (Bethesda, Md.) [G3 (Bethesda)] 2024 Mar 06; Vol. 14 (3).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Print Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols* , Drosophila*, Animals ; Humans ; Glycosylation ; Phosphatidylinositols ; Phenotype ; Seizures/genetics ; Mutation

المؤلفون: Kundu S; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA., Jaiswal M; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA., Babu Mullapudi V; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA., Guo J; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA., Kamat M; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA., Basso KB; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA., Guo Z; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA.; UF Health Cancer Centre, University of Florida, Gainesville, FL 32611, USA.

المصدر: Chemistry (Weinheim an der Bergstrasse, Germany) [Chemistry] 2024 Feb 07; Vol. 30 (8), pp. e202303047. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 9513783 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-3765 (Electronic) Linking ISSN: 09476539 NLM ISO Abbreviation: Chemistry Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/chemistry , Polysaccharides*/metabolism, Cell Membrane/metabolism ; Membrane Proteins/metabolism ; Signal Transduction

المؤلفون: Guo Z; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA; UF Health Cancer Center, University of Florida, Gainesville, FL 32611, USA. Electronic address: zguo@chem.ufl.edu., Kundu S; Department of Chemistry, University of Florida, Gainesville, FL 32611, USA.

المصدر: Current opinion in chemical biology [Curr Opin Chem Biol] 2024 Feb; Vol. 78, pp. 102421. Date of Electronic Publication: 2024 Jan 04.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 9811312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0402 (Electronic) Linking ISSN: 13675931 NLM ISO Abbreviation: Curr Opin Chem Biol Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/metabolism , Membrane Proteins*/metabolism, Cell Membrane/metabolism ; Protein Processing, Post-Translational