المؤلفون: Houck CA; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands., Koopmans M; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2024 Mar-Apr; Vol. 27 (2), pp. 176-180. Date of Electronic Publication: 2023 Dec 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-5742 (Electronic) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Collagen*/metabolism , Fetus*/metabolism , Coatomer Protein*/genetics , Musculoskeletal Abnormalities*/diagnostic imaging , Musculoskeletal Abnormalities*/genetics, Humans ; Mutation ; Phenotype ; Syndrome ; Congenital Abnormalities/genetics ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/genetics

المؤلفون: Sánchez-Simarro J; Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia, Instituto Universitario de Biotecnología y Biomedicina (BIOTECMED), Universitat de València, 46100, Burjassot, Spain., Aniento F; Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia, Instituto Universitario de Biotecnología y Biomedicina (BIOTECMED), Universitat de València, 46100, Burjassot, Spain., Marcote MJ; Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia, Instituto Universitario de Biotecnología y Biomedicina (BIOTECMED), Universitat de València, 46100, Burjassot, Spain. Mariajesus.marcote@uv.es.

المصدر: Plant reproduction [Plant Reprod] 2023 Dec; Vol. 36 (4), pp. 343-347. Date of Electronic Publication: 2023 Jun 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

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*/genetics , Arabidopsis*/metabolism , Coatomer Protein*/genetics , Coatomer Protein*/metabolism, Pollen/genetics ; Pollen/metabolism ; Protein Isoforms

المؤلفون: Delafontaine S; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Iannuzzo A; Université Paris Cité, CNRS, INSERM, Institut Cochin, Paris, France., Bigley TM; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, Missouri, USA., Mylemans B; Laboratory of Biomolecular Modelling and Design, Department of Chemistry, KU Leuven, Leuven, Belgium., Rana R; Division of Immunology, Allergy and Retrovirology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Baatsen P; Electron Microscopy Platform of VIB Bio Imaging Core, KU Leuven, Leuven, Belgium., Poli MC; Department of Pediatrics, Clínica Alemana de Santiago, Universidad del Desarollo, Santiago, Chile.; Immunology and Rheumatology Unit, Hospital de Niños Dr. Roberto del Rio, Santiago, Chile., Rymen D; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Jansen K; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Mekahli D; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology., Casteels I; Department of Ophthalmology, and., Cassiman C; Department of Ophthalmology, and., Demaerel P; Department of Radiology, University Hospitals Leuven, Leuven, Belgium., Lepelley A; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France., Frémond ML; Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.; Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Université Paris Cité, Paris, France., Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, and., Bossuyt X; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Vints K; Electron Microscopy Platform of VIB Bio Imaging Core, KU Leuven, Leuven, Belgium., Huybrechts W; Center for Human Genetics, Leuven University Hospitals, Leuven, Belgium., Tacine R; Université Paris Cité, CNRS, INSERM, Institut Cochin, Paris, France., Willekens K; Center for Human Genetics, Leuven University Hospitals, Leuven, Belgium., Corveleyn A; Center for Human Genetics, Leuven University Hospitals, Leuven, Belgium., Boeckx B; Laboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.; VIB Center for Cancer Biology, Leuven, Belgium., Baggio M; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Ehlers L; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Munck S; VIB Bio Imaging Core and VIB-KU Leuven Center for Brain & Disease Research, KU Leuven Department of Neurosciences, Leuven, Belgium., Lambrechts D; Laboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.; VIB Center for Cancer Biology, Leuven, Belgium., Voet A; Laboratory of Biomolecular Modelling and Design, Department of Chemistry, KU Leuven, Leuven, Belgium., Moens L; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Bucciol G; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, Missouri, USA., Davis CM; Division of Immunology, Allergy and Retrovirology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA., Delon J; Université Paris Cité, CNRS, INSERM, Institut Cochin, Paris, France., Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jan 04; Vol. 134 (4). Date of Electronic Publication: 2024 Jan 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Coatomer Protein*/genetics , Coat Protein Complex I*/genetics , Coat Protein Complex I*/metabolism, Child ; Humans ; Mutation ; Syndrome ; Golgi Apparatus/genetics ; Golgi Apparatus/metabolism

المؤلفون: Thomason PA; Cancer Research UK Scotland Institute, Garscube Estate, Switchback Road, Glasgow G61 1BD, UK. Electronic address: p.thomason@crukscotlandinstitute.ac.uk., Corbyn R; Cancer Research UK Scotland Institute, Garscube Estate, Switchback Road, Glasgow G61 1BD, UK., Lilla S; Cancer Research UK Scotland Institute, Garscube Estate, Switchback Road, Glasgow G61 1BD, UK., Sumpton D; Cancer Research UK Scotland Institute, Garscube Estate, Switchback Road, Glasgow G61 1BD, UK., Gilbey T; Cancer Research UK Scotland Institute, Garscube Estate, Switchback Road, Glasgow G61 1BD, UK., Insall RH; School of Cancer Sciences, University of Glasgow, Garscube Estate, Switchback Road, Glasgow G61 1QH, UK; Division of Cell & Developmental Biology, University College London, London WC1E 6BT, UK. Electronic address: r.insall@ucl.ac.uk.

المصدر: Current biology : CB [Curr Biol] 2024 Aug 05; Vol. 34 (15), pp. 3564-3581.e6. Date of Electronic Publication: 2024 Jul 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: England NLM ID: 9107782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0445 (Electronic) Linking ISSN: 09609822 NLM ISO Abbreviation: Curr Biol Subsets: MEDLINE

مواضيع طبية MeSH: Dictyostelium*/genetics , Dictyostelium*/metabolism , Lysosomes*/metabolism , Protozoan Proteins*/genetics , Protozoan Proteins*/metabolism, Animals ; Evolution, Molecular ; Coatomer Protein/genetics ; Coatomer Protein/metabolism ; Hermanski-Pudlak Syndrome/genetics ; Hermanski-Pudlak Syndrome/metabolism

المؤلفون: O'Donoghue L; UCD School of Medicine, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Belfield Dublin 4, Ireland.; Irish Centre for Vascular Biology, Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin D02 YN77, Ireland., Comer SP; UCD School of Medicine, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Belfield Dublin 4, Ireland.; Irish Centre for Vascular Biology, Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin D02 YN77, Ireland., Hiebner DW; Irish Centre for Vascular Biology, Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin D02 YN77, Ireland.; UCD School of Chemical & Bioprocess Engineering, Engineering & Materials Science Centre, University College Dublin, Belfield Dublin 4, Ireland., Schoen I; Irish Centre for Vascular Biology, Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin D02 YN77, Ireland.; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland (RCSI), 123 St Stephen's Green, Dublin D02 YN77, Ireland., von Kriegsheim A; Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XR, U.K., Smolenski A; UCD School of Medicine, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Belfield Dublin 4, Ireland.; Irish Centre for Vascular Biology, Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin D02 YN77, Ireland.

المصدر: The Biochemical journal [Biochem J] 2023 Jul 26; Vol. 480 (14), pp. 1109-1127.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

مواضيع طبية MeSH: Coatomer Protein*/chemistry , Coatomer Protein*/metabolism , Tryptophan*/metabolism, Humans ; GTPase-Activating Proteins/genetics ; GTPase-Activating Proteins/metabolism ; Protein Binding ; Protein Transport ; Proteomics

المؤلفون: Xie B; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA.; Center for Structural Biology, Vanderbilt University , Nashville, TN, USA., Guillem C; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA., Date SS; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA., Cohen CI; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA., Jung C; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA., Kendall AK; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA.; Center for Structural Biology, Vanderbilt University , Nashville, TN, USA., Best JT; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA., Graham TR; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA., Jackson LP; Department of Biological Sciences, Vanderbilt University , Nashville, TN, USA.; Center for Structural Biology, Vanderbilt University , Nashville, TN, USA.; Department of Biochemistry, Vanderbilt University , Nashville, TN, USA.

المصدر: The Journal of cell biology [J Cell Biol] 2023 Apr 03; Vol. 222 (4). Date of Electronic Publication: 2023 Feb 22.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: Coatomer Protein*/metabolism , GTPase-Activating Proteins*/metabolism , Saccharomyces cerevisiae Proteins*/metabolism, Coat Protein Complex I/metabolism ; Golgi Apparatus/metabolism ; Saccharomyces cerevisiae/metabolism ; SNARE Proteins/metabolism ; ADP-Ribosylation Factor 1/metabolism

المؤلفون: Zhou G; Department of Otolaryngology Head and Neck Surgery, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, No.3 Qingchun East Road, Hangzhou, 310016, Zhejiang, China., Zhang S; Department of Otolaryngology Head and Neck Surgery, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, No.3 Qingchun East Road, Hangzhou, 310016, Zhejiang, China., Jin M; Department of Otolaryngology Head and Neck Surgery, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, No.3 Qingchun East Road, Hangzhou, 310016, Zhejiang, China., Hu S; Department of Otolaryngology Head and Neck Surgery, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, No.3 Qingchun East Road, Hangzhou, 310016, Zhejiang, China. 3193146@zju.edu.cn.

المصدر: BMC cancer [BMC Cancer] 2022 Jun 17; Vol. 22 (1), pp. 667. Date of Electronic Publication: 2022 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407 (Electronic) Linking ISSN: 14712407 NLM ISO Abbreviation: BMC Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Coatomer Protein*/genetics , Coatomer Protein*/metabolism , Laryngeal Neoplasms*/genetics , Laryngeal Neoplasms*/metabolism , Laryngeal Neoplasms*/pathology , Receptor Protein-Tyrosine Kinases*/genetics , Receptor Protein-Tyrosine Kinases*/metabolism , Squamous Cell Carcinoma of Head and Neck*/genetics , Squamous Cell Carcinoma of Head and Neck*/metabolism , Squamous Cell Carcinoma of Head and Neck*/pathology, Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Humans ; Neoplasm Staging ; Prognosis

المؤلفون: Zheng Y; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China., Du Y; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China., Wu Y; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China., Li F; Beijing Chigene Translational Medical Research Center Co, Beijing, China., Gu W; Beijing Chigene Translational Medical Research Center Co, Beijing, China., Zhao C; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2309. Date of Electronic Publication: 2023 Oct 25.

نوع المنشور: Case Reports; Journal Article

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

مواضيع طبية MeSH: Kidney Diseases*/genetics , Arthritis*/genetics, Humans ; Female ; Child, Preschool ; Coatomer Protein/genetics ; Syndrome ; Mutation, Missense

المؤلفون: Lu C; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China., Luo ZF; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China.; The Second Department of Urology, Affiliated Hospital of Guilin Medical University, Guilin, Guangxi, P.R. China., Tang D; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China.; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, P.R. China., Zheng F; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China., Li S; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China., Liu S; Institute of Nephrology and Blood Purification, the First Affiliated Hospital of Jinan University, Jinan University, Guangzhou, P.R. China., Qiu J; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China., Liu F; Institute of Nephrology and Blood Purification, the First Affiliated Hospital of Jinan University, Jinan University, Guangzhou, P.R. China., Dai Y; The Organ Transplantation Department of No.924 Hospital of PLA Joint Logistic Support Force, Medical quality specialty of the Joint Logistic Support Force, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi, P.R. China.; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, P.R. China., Sui WG; The Second Department of Urology, Affiliated Hospital of Guilin Medical University, Guilin, Guangxi, P.R. China., Yan Q; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong, P.R. China.

المصدر: Medicine [Medicine (Baltimore)] 2023 Dec 15; Vol. 102 (50), pp. e36476.

نوع المنشور: Observational Study; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulonephritis, Membranous*/genetics , Glomerulonephritis, Membranous*/diagnosis, Humans ; Galectin 1 ; Coatomer Protein ; Proteomics ; Kidney/pathology ; Biomarkers ; Laminin

المؤلفون: Zhang L; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China., Wang T; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China., Yi Y; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China., Song M; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China., Jin M; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China., Guo K; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China., Zhang Y; College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China.

المصدر: Journal of virology [J Virol] 2022 Mar 23; Vol. 96 (6), pp. e0219321. Date of Electronic Publication: 2022 Jan 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society For Microbiology Country of Publication: United States NLM ID: 0113724 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-5514 (Electronic) Linking ISSN: 0022538X NLM ISO Abbreviation: J Virol Subsets: MEDLINE

مواضيع طبية MeSH: ADP-Ribosylation Factors*/genetics , ADP-Ribosylation Factors*/metabolism , Classical Swine Fever*/physiopathology , Classical Swine Fever*/virology , Classical Swine Fever Virus*/physiology , Coatomer Protein*/genetics , Coatomer Protein*/metabolism , Guanine Nucleotide Exchange Factors*/genetics , Guanine Nucleotide Exchange Factors*/metabolism, Animals ; Cholesterol ; Endothelial Cells/metabolism ; Endothelial Cells/virology ; Swine ; Virus Internalization ; Virus Replication/genetics