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Wyszukujesz frazę ""C1"" wg kryterium: Temat


Tytuł:
Transmission patterns of C1-INH deficiency hereditary angioedema favors a wild-type male offspring: Our experience at Chandigarh, India.
Autorzy:
Machhua S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Kumar Jindal A; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address: .
Basu S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Jangra I; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Barman P; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Tyagi R; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Sil A; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Tyagi R; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Kaur A; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Chawla S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Kumaran SM; Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Dogra S; Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Dhaliwal M; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Sharma S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Rawat A; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Singh S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
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Źródło:
Immunobiology [Immunobiology] 2024 Mar; Vol. 229 (2), pp. 152790. Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Complement C1 Inhibitor Protein*/genetics
Angioedemas, Hereditary*/diagnosis
Angioedemas, Hereditary*/epidemiology
Angioedemas, Hereditary*/genetics
Child ; Humans ; Female ; Male ; India ; Alleles ; Pedigree
Czasopismo naukowe
Tytuł:
NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma.
Autorzy:
Xu J; Department of Hepatobiliary Surgery, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, China.
Chen F; Department of Nuclear Medicine, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, China.
Zhu W; Department of Gastrointestinal Surgery, Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province, China.
Zhang W; Department of Nuclear Medicine, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, China. Electronic address: .
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Źródło:
Gene [Gene] 2024 Mar 01; Vol. 897, pp. 148050. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:
Journal Article
MeSH Terms:
Carcinoma, Hepatocellular*/genetics
Liver Neoplasms*/genetics
Niemann-Pick C1 Protein*/metabolism
Humans ; Autophagy ; Cell Transformation, Neoplastic ; Prognosis ; Reproducibility of Results
Czasopismo naukowe
Tytuł:
Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization.
Autorzy:
Zagkos L; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2BX, UK.
Dib MJ; Division of Cardiovascular Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
Cronjé HT; Department of Public Health, Section of Epidemiology, University of Copenhagen, 1165 Copenhagen, Denmark.
Elliott P; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2BX, UK.; UK Dementia Research Institute at Imperial College London, Hammersmith Hospital, London W1T 7NF, UK.; Medical Research Council Centre for Environment and Health, School of Public Health, Imperial College London, London SW7 2AZ, UK.
Dehghan A; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2BX, UK.; UK Dementia Research Institute at Imperial College London, Hammersmith Hospital, London W1T 7NF, UK.; Medical Research Council Centre for Environment and Health, School of Public Health, Imperial College London, London SW7 2AZ, UK.
Tzoulaki I; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2BX, UK.; UK Dementia Research Institute at Imperial College London, Hammersmith Hospital, London W1T 7NF, UK.; Medical Research Council Centre for Environment and Health, School of Public Health, Imperial College London, London SW7 2AZ, UK.; Centre for Systems Biology, Biomedical Research Foundation of the Academy of Athens, 11527 Athens, Greece.
Gill D; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London SW7 2BX, UK.
Daghlas I; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
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Źródło:
Genes [Genes (Basel)] 2024 Jan 04; Vol. 15 (1). Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:
Journal Article
MeSH Terms:
Complement C1 Inhibitor Protein*
Proteome*/genetics
Humans ; Cognition ; Esterases ; Genome-Wide Association Study ; Mendelian Randomization Analysis ; Meta-Analysis as Topic
Czasopismo naukowe
Tytuł:
Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants.
Autorzy:
Ryø LB; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Haslund D; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Rovsing AB; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Pihl R; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Sanrattana W; CDL Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
de Maat S; CDL Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Palarasah Y; Department of Cancer and Inflammation Research, University of Southern Denmark, Odense, Denmark; Department of Clinical Biochemistry, Hospital of South West Jutland, Esbjerg, Denmark.
Maas C; CDL Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Unit for Thrombosis Research, Department of Regional Health Research, University of Southern Denmark, Esbjerg, Denmark.
Thiel S; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Mikkelsen JG; Department of Biomedicine, Aarhus University, Aarhus, Denmark. Electronic address: .
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Źródło:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2023 Nov; Vol. 152 (5), pp. 1218-1236.e9. Date of Electronic Publication: 2023 Jun 09.
Typ publikacji:
Journal Article
MeSH Terms:
Complement C1 Inhibitor Protein*/genetics
Complement C1 Inhibitor Protein*/metabolism
Angioedemas, Hereditary*/genetics
Humans ; HeLa Cells ; Endopeptidases ; Peptide Hydrolases
Czasopismo naukowe
Tytuł:
Hereditary angioedema caused by a novel intronic variant of SERPING1.
Autorzy:
López-Martínez R; Department of Immunology, Hospital Universitario Central de Asturias, Oviedo, Spain.
Martínez-Borra J; Department of Immunology, Hospital Universitario Central de Asturias, Oviedo, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, Oviedo, Spain.
Fernández-González P; Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.
Coto E; Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, Oviedo, Spain.; Department of Genetics, Hospital Universitario Central de Asturias, Oviedo, Spain.; Universidad de Oviedo, Oviedo, Spain.
Toyos-González P; Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.
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Źródło:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2022 Jan; Vol. 33 (1), pp. e13681.
Typ publikacji:
Letter
MeSH Terms:
Angioedemas, Hereditary*/diagnosis
Angioedemas, Hereditary*/genetics
Complement C1 Inhibitor Protein*/genetics
Complement C1 Inactivator Proteins/genetics ; Humans ; Mutation ; Pedigree
Opinia redakcyjna
Tytuł:
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Autorzy:
Grombirikova H; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Bily V; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Soucek P; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Kramarek M; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Faculty of Science, Masaryk University, Brno, Czech Republic.
Hakl R; Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Department of Allergology and Clinical Immunology, St. Anne's University Hospital in Brno, Brno, Czech Republic.
Ballonova L; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Science, Masaryk University, Brno, Czech Republic.
Ravcukova B; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Ricna D; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Kozena K; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Kratochvilova L; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Sobotkova M; Department of Immunology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic.
Zachova R; Department of Immunology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic.
Kuklinek P; Faculty of Science, Masaryk University, Brno, Czech Republic.
Kralickova P; Institute of Clinical Immunology and Allergy, University Hospital Hradec Kralove, Faculty of Medicine in Hradec Kralove, Charles University, Hradec Kralove, Czech Republic.
Krcmova I; Institute of Clinical Immunology and Allergy, University Hospital Hradec Kralove, Faculty of Medicine in Hradec Kralove, Charles University, Hradec Kralove, Czech Republic.
Hanzlikova J; Department of Immunology and Allergology, University Hospital Pilsen, Pilsen, Czech Republic.
Vachova M; Department of Immunology and Allergology, University Hospital Pilsen, Pilsen, Czech Republic.; Department of Immunology and Allergology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.
Krystufkova O; Institute of Rheumatology and Department of Rheumatology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.
Dankova E; Immunia, Prague, Czech Republic.
Jesenak M; National Centre for Hereditary Angioedema, Department of Pediatrics, Department of Pulmonology and Pathophysiology, Department of Clinical Immunology and Allergology, Comenius University in Bratislava, Jessenius Faculty of Medicine, University Teaching Hospital in Martin, Martin, Slovakia.
Novackova M; Institute of Biostatistics and Analyses, Ltd., Brno, Czech Republic.
Svoboda M; Institute of Biostatistics and Analyses, Ltd., Brno, Czech Republic.
Litzman J; Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Department of Allergology and Clinical Immunology, St. Anne's University Hospital in Brno, Brno, Czech Republic.
Freiberger T; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. .; Faculty of Medicine, Masaryk University, Brno, Czech Republic. .
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Źródło:
Journal of clinical immunology [J Clin Immunol] 2023 Nov; Vol. 43 (8), pp. 1974-1991. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Complement C1 Inhibitor Protein*/genetics
Angioedemas, Hereditary*/diagnosis
Angioedemas, Hereditary*/epidemiology
Angioedemas, Hereditary*/genetics
Humans ; Czech Republic/epidemiology ; RNA Splicing ; RNA, Messenger
Czasopismo naukowe
Tytuł:
"High plasma levels of C1-inhibitor are associated with lower risk of future venous thromboembolism": comment from Tanaka et al.
Autorzy:
Tanaka KA; Department of Anesthesiology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA. Electronic address: .
Buehler P; Department of Pathology, and the Department of Pediatrics, Center for Blood Oxygen Transport and Hemostasis University of Maryland School of Medicine, Baltimore, Maryland, USA.
Stewart KE; Department of Anesthesiology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA; Department of Surgery and Anesthesiology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
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Źródło:
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Oct; Vol. 21 (10), pp. 2991-2992.
Typ publikacji:
Letter; Comment
MeSH Terms:
Venous Thromboembolism*/diagnosis
Venous Thromboembolism*/drug therapy
Complement C1 Inhibitor Protein*
Humans
Opinia redakcyjna
Tytuł:
"High plasma levels of C1-inhibitor are associated with lower risk of future venous thromboembolism": reply.
Autorzy:
Grover SP; Division of Hematology, Department of Medicine, UNC Blood Research Center, University of North Carolina at Chapel Hill, North Carolina. Electronic address: https://twitter.com/StevenPGrover.
Brækkan SK; Thrombosis Research Group, Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Thrombosis Research Center, Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway. Electronic address: .
Mackman N; Division of Hematology, Department of Medicine, UNC Blood Research Center, University of North Carolina at Chapel Hill, North Carolina. Electronic address: https://twitter.com/NMackman.
Hansen JB; Thrombosis Research Group, Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Thrombosis Research Center, Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway. Electronic address: https://twitter.com/TREC_UiT.
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Źródło:
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Oct; Vol. 21 (10), pp. 2993-2995.
Typ publikacji:
Letter; Comment
MeSH Terms:
Venous Thromboembolism*/diagnosis
Venous Thromboembolism*/drug therapy
Complement C1 Inhibitor Protein*
Humans
Opinia redakcyjna
Tytuł:
Efficacy, pharmacokinetics, and safety of subcutaneous C1-esterase inhibitor as prophylaxis in Japanese patients with hereditary angioedema: Results of a Phase 3 study.
Autorzy:
Fukuda T; Department of Dermatology, Saitama Medical Center, Saitama Medical University, Saitama, Japan. Electronic address: .
Yamagami K; Department of Internal Medicine, Osaka City General Hospital, Osaka, Japan.
Kawahata K; Division of Rheumatology and Allergology, Department of Internal Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.
Suzuki Y; Department of Respiratory Medicine, Clover Hospital, Kanagawa, Japan.
Sasaki Y; Department of Gastroenterology, National Hospital Organization Disaster Medical Center, Tokyo, Japan.
Miyagi T; Department of Hematology, Heart-Life Hospital, Okinawa, Japan.
Jacobs I; CSL Behring, King of Prussia, PA, USA.
Lawo JP; CSL Behring Innovation GmbH, Marburg, Germany.
Glassman F; CSL Behring, King of Prussia, PA, USA.
Akama H; CSL Behring Japan, Tokyo, Japan.
Hide M; Department of Dermatology, Hiroshima University, Hiroshima, Japan; Department of Dermatology, Hiroshima Citizens Hospital, Hiroshima, Japan.
Ohsawa I; Department of Nephrology, Saiyu Soka Hospital, Saitama, Japan.
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Źródło:
Allergology international : official journal of the Japanese Society of Allergology [Allergol Int] 2023 Jul; Vol. 72 (3), pp. 451-457. Date of Electronic Publication: 2023 Feb 28.
Typ publikacji:
Clinical Trial, Phase III; Multicenter Study; Journal Article
MeSH Terms:
Angioedemas, Hereditary*/drug therapy
Angioedemas, Hereditary*/prevention & control
Complement C1 Inhibitor Protein*/pharmacokinetics
Complement C1 Inhibitor Protein*/therapeutic use
Humans ; East Asian People ; Prospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł:
Niemann-Pick C1 protein regulates platelet membrane-associated calcium ion signaling in thrombo-occlusive diseases in mice.
Autorzy:
Manke MC; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany.
Roslan A; Department of Pharmacology, Toxicology and Clinical Pharmacy, University of Tübingen, Germany.
Walker B; DFG Heisenberg Group Thrombocardiology.
Münzer P; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany.
Kollotzek F; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany.
Peng B; Leibniz-Institut für Analytische Wissenschaften-ISAS, Dortmund, Germany; Division of Rheumatology, Department of Medicine Solna, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
Mencl S; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Coman C; Department of Analytical Chemistry, University of Vienna, Austria.
Szepanowski RD; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Schulze H; Institute of Experimental Biomedicine, University Hospital Würzburg, Germany.
Lieberman AP; Department of Pathology, University of Michigan Medical School, USA.
Lang F; Department of Physiology, University of Tübingen, Germany.
Gawaz M; DFG Heisenberg Group Thrombocardiology.
Kleinschnitz C; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Lukowski R; Department of Pharmacology, Toxicology and Clinical Pharmacy, University of Tübingen, Germany.
Ahrends R; Leibniz-Institut für Analytische Wissenschaften-ISAS, Dortmund, Germany; Department of Analytical Chemistry, University of Vienna, Austria.
Bobe R; HITh, UMR_S1176, INSERM, Université Paris-Saclay, France.
Borst O; DFG Heisenberg Group Thrombocardiology; Department of Cardiology, Angiology and Cardiovascular Medicine, University of Tübingen, Germany. Electronic address: .
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Źródło:
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Jul; Vol. 21 (7), pp. 1957-1966. Date of Electronic Publication: 2023 Apr 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Niemann-Pick C1 Protein*
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/metabolism
Mice ; Animals ; Calcium/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Mice, Knockout
Czasopismo naukowe
Tytuł:
Conformational dynamics of complement protease C1r inhibitor proteins from Lyme disease- and relapsing fever-causing spirochetes.
Autorzy:
Roy S; Department of Microbiology and Immunology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA.
Booth CE Jr; Department of Microbiology and Immunology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA.
Powell-Pierce AD; Department of Microbial Pathogenesis and Immunology, School of Medicine, Texas A&M University, Bryan, Texas, USA.
Schulz AM; Department of Microbiology and Immunology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA.
Skare JT; Department of Microbial Pathogenesis and Immunology, School of Medicine, Texas A&M University, Bryan, Texas, USA. Electronic address: .
Garcia BL; Department of Microbiology and Immunology, Brody School of Medicine, East Carolina University, Greenville, North Carolina, USA. Electronic address: .
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Źródło:
The Journal of biological chemistry [J Biol Chem] 2023 Aug; Vol. 299 (8), pp. 104972. Date of Electronic Publication: 2023 Jun 27.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Bacterial Proteins*/chemistry
Lyme Disease*/immunology
Lyme Disease*/microbiology
Relapsing Fever*/immunology
Relapsing Fever*/microbiology
Complement C1 Inactivator Proteins*/chemistry
Borrelia*
Humans ; Protein Domains ; Crystallography, X-Ray
Czasopismo naukowe
Tytuł:
Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.
Autorzy:
Ren Z; Division of Allergy and Immunology, Department of Medicine, Washington University School of Medicine, St Louis, Mo. Electronic address: .
Zhao S; Department of Molecular Diagnostics and Endocrinology, The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Li T; Department of Developmental Biology, Washington University School of Medicine, St Louis, Mo.
Wedner HJ; Division of Allergy and Immunology, Department of Medicine, Washington University School of Medicine, St Louis, Mo.
Atkinson JP; Division of Rheumatology, Department of Medicine, Washington University School of Medicine, St Louis, Mo.
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Źródło:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2023 Apr; Vol. 151 (4), pp. 1040-1049.e5. Date of Electronic Publication: 2022 Dec 29.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Complement C1 Inhibitor Protein*/genetics
Angioedemas, Hereditary*/genetics
Angioedemas, Hereditary*/diagnosis
Humans ; Frameshift Mutation ; Phenotype ; Heterozygote
Czasopismo naukowe
Tytuł:
Uncovering the true burden of hereditary angioedema due to C1-inhibitor deficiency: A focus on the Asia-Pacific region.
Autorzy:
Honda D; Department of Nephrology, Chiba University Graduate School of Medicine, Chiba, Japan.
Li PH; Division of Rheumatology and Clinical Immunology, Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Pok Fu Lam, Hong Kong.
Jindal AK; Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Katelaris CH; Immunology and Allergy Unit, Department of Medicine, Campbelltown Hospital and Western Sydney University, Campbelltown, Sydney, Australia.
Zhi YX; Department of Allergy and Clinical Immunology, Peking Union Medical College Hospital and Chinese Academy of Medical Sciences, Beijing, China.
Thong BY; Department of Rheumatology, Allergy and Immunology, Tan Tock Seng Hospital, Singapore.
Longhurst HJ; Department of Immunology, Auckland City Hospital, Grafton, Auckland, New Zealand; Department of Medicine, University of Auckland, Auckland, New Zealand. Electronic address: .
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Źródło:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Jan; Vol. 153 (1), pp. 42-54. Date of Electronic Publication: 2023 Oct 28.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Angioedemas, Hereditary*/diagnosis
Angioedemas, Hereditary*/epidemiology
Angioedemas, Hereditary*/therapy
Humans ; Complement C1 Inhibitor Protein/genetics ; Treatment Outcome ; Asia/epidemiology ; China ; Japan
Czasopismo naukowe
Tytuł:
A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann-Pick Type C1 Disease.
Autorzy:
Hughes MP; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Nelvagal HR; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Coombe-Tennant O; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Smith D; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Smith C; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Massaro G; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Poupon-Bejuit L; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
Platt FM; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Rahim AA; UCL School of Pharmacy, University College London, London WC1N 1AX, UK.
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Źródło:
Cells [Cells] 2023 Jun 13; Vol. 12 (12). Date of Electronic Publication: 2023 Jun 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Therapy*/methods
Intracellular Signaling Peptides and Proteins*/metabolism
Niemann-Pick C1 Protein*/genetics
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/therapy
Niemann-Pick Disease, Type C*/metabolism
Animals ; Mice ; Mutation ; Genetic Vectors ; Promoter Regions, Genetic/genetics
Czasopismo naukowe
Tytuł:
Neuroinflammatory gene expression profiles of reactive glia in the substantia nigra suggest a multidimensional immune response to alpha synuclein inclusions.
Autorzy:
Stoll AC; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA; Department of Pharmacology and Toxicology, Michigan State University, East Lansing, MI, USA.
Kemp CJ; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA.
Patterson JR; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA.
Howe JW; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA.
Steece-Collier K; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA.
Luk KC; Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Sortwell CE; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA.
Benskey MJ; Department of Translational Neuroscience, Michigan State University, Grand Rapids, MI, USA. Electronic address: .
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Źródło:
Neurobiology of disease [Neurobiol Dis] 2024 Feb; Vol. 191, pp. 106411. Date of Electronic Publication: 2024 Jan 14.
Typ publikacji:
Journal Article
MeSH Terms:
Parkinson Disease*/metabolism
Synucleinopathies*/pathology
Animals ; Rats ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism ; Complement C1 Inhibitor Protein/genetics ; Complement C1 Inhibitor Protein/metabolism ; Dopaminergic Neurons/metabolism ; In Situ Hybridization, Fluorescence ; Neuroglia/metabolism ; Neuroinflammatory Diseases ; Substantia Nigra/metabolism ; Transcriptome
Czasopismo naukowe
Tytuł:
Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis.
Autorzy:
Guan L; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.; Henan International Joint Laboratory of Noninvasive Neuromodulation, Xinxiang, Henan, China.
Jia Z; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.
Xu K; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.
Yang M; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.
Li X; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.
Qiao L; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.
Liu Y; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.
Lin J; Stem Cells and Biotherapy Engineering Research Center of Henan, National Joint Engineering Laboratory of Stem Cells and Biotherapy, School of Life Science and Technology, Xinxiang Medical University, Xinxiang, Henan, China.; Henan Key Laboratory of Medical Tissue Regeneration, Xinxiang Medical University, Xinxiang, Henan, China.; Henan International Joint Laboratory of Stem Cell Medicine, School of Medical Engineering, Xinxiang Medical University, Xinxiang, Henan, China.
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Źródło:
Animal genetics [Anim Genet] 2024 Feb; Vol. 55 (1), pp. 99-109. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Journal Article
MeSH Terms:
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/metabolism
Niemann-Pick Disease, Type C*/pathology
Rodent Diseases*/pathology
Animals ; Mice ; Proteins/genetics ; Kidney/metabolism ; Kidney/pathology ; Mutation ; Fibrosis ; Niemann-Pick C1 Protein/genetics
Czasopismo naukowe
Tytuł:
Interplay between C1-inhibitor and group IIA secreted phospholipase A 2 impairs their respective function.
Autorzy:
Ferrara AL; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.; CNR Institute of Experimental Endocrinology and Oncology 'G. Salvatore', Naples, Italy.
Bova M; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.; Department of Internal Medicine, Cardarelli Hospital, Naples, Italy.
Petraroli A; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.
Marasco D; Department of Pharmacy, University of Naples Federico II, Naples, Italy.
Payré C; Institut de Pharmacologie Moléculaire Et Cellulaire, CNRS, Université Côte d'Azur, Valbonne Sophia Antipolis, Nice, France.
Fortuna S; Istituto Italiano Di Tecnologia (IIT), Via E. Melen, 83, 16152, Genoa, Italy.
Palestra F; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.
Ciardi R; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.
Marone G; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.; CNR Institute of Experimental Endocrinology and Oncology 'G. Salvatore', Naples, Italy.
Spadaro G; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.
Lambeau G; Institut de Pharmacologie Moléculaire Et Cellulaire, CNRS, Université Côte d'Azur, Valbonne Sophia Antipolis, Nice, France.
Loffredo S; Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), WAO Center of Excellence, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy. .; CNR Institute of Experimental Endocrinology and Oncology 'G. Salvatore', Naples, Italy. .
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Źródło:
Immunologic research [Immunol Res] 2023 Feb; Vol. 71 (1), pp. 70-82. Date of Electronic Publication: 2022 Nov 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Angioedemas, Hereditary*
Complement C1 Inhibitor Protein*/chemistry
Complement C1 Inhibitor Protein*/metabolism
Group II Phospholipases A2*/chemistry
Group II Phospholipases A2*/metabolism
Humans ; Interleukin-6 ; Leukocytes, Mononuclear ; Molecular Docking Simulation ; Tumor Necrosis Factor-alpha
Czasopismo naukowe
Tytuł:
Purification and structure of luminal domain C of human Niemann-Pick C1 protein.
Autorzy:
Odongo L; Center for Membrane and Cell Physiology, University of Virginia, Charlottesville, VA 22908, USA.
Zadrozny KK; Center for Membrane and Cell Physiology, University of Virginia, Charlottesville, VA 22908, USA.
Diehl WE; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Luban J; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.
White JM; Center for Membrane and Cell Physiology, University of Virginia, Charlottesville, VA 22908, USA.
Ganser-Pornillos BK; Center for Membrane and Cell Physiology, University of Virginia, Charlottesville, VA 22908, USA.
Tamm LK; Center for Membrane and Cell Physiology, University of Virginia, Charlottesville, VA 22908, USA.
Pornillos O; Center for Membrane and Cell Physiology, University of Virginia, Charlottesville, VA 22908, USA.
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Źródło:
Acta crystallographica. Section F, Structural biology communications [Acta Crystallogr F Struct Biol Commun] 2023 Feb 01; Vol. 79 (Pt 2), pp. 45-50. Date of Electronic Publication: 2023 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Membrane Glycoproteins*/genetics
Membrane Glycoproteins*/chemistry
Membrane Glycoproteins*/metabolism
Niemann-Pick C1 Protein*/metabolism
Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Crystallography, X-Ray ; Glycoproteins/chemistry ; Lysosomes/metabolism
Czasopismo naukowe
Tytuł:
A phase 2 open-label extension study of prekallikrein inhibition with donidalorsen for hereditary angioedema.
Autorzy:
Petersen RS; Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Bordone L; Ionis Pharmaceuticals, Inc., Carlsbad, California, USA.
Riedl MA; University of California San Diego, La Jolla, California, USA.
Tachdjian R; Department of Pediatrics, University of California, Los Angeles, California, USA.; Providence Saint John's Health Center, Santa Monica, California, USA.
Craig TJ; Department of Medicine, Pediatrics, and Biomedical Sciences, Pennsylvania State University, Hershey, Pennsylvania, USA.; Vinmec International Hospital, Times City, Hanoi, Vietnam.
Lumry WR; Allergy and Asthma Research Associates Research Center, Dallas, Texas, USA.
Manning ME; Medical Research of Arizona, Scottsdale, Arizona, USA.
Bernstein JA; Department of Internal Medicine, University of Cincinnati College of Medicine, and Bernstein Clinical Research Center, Cincinnati, Ohio, USA.
Raasch J; Midwest Immunology Clinic, Plymouth, Minnesota, USA.
Zuraw BL; Division of Rheumatology, Allergy, and Immunology, Department of Medicine, University of California San Diego, La Jolla, California, USA.
Deng Y; Ionis Pharmaceuticals, Inc., Carlsbad, California, USA.
Newman KB; Ionis Pharmaceuticals, Inc., Carlsbad, California, USA.
Alexander VJ; Ionis Pharmaceuticals, Inc., Carlsbad, California, USA.
Lui C; Ionis Pharmaceuticals, Inc., Carlsbad, California, USA.
Schneider E; Ionis Pharmaceuticals, Inc., Carlsbad, California, USA.
Cohn DM; Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
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Źródło:
Allergy [Allergy] 2024 Mar; Vol. 79 (3), pp. 724-734. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:
Clinical Trial, Phase II; Randomized Controlled Trial; Journal Article
MeSH Terms:
Angioedemas, Hereditary*/drug therapy
Oligonucleotides*
Humans ; Prekallikrein ; Quality of Life ; Treatment Outcome ; Complement C1 Inhibitor Protein/therapeutic use
Czasopismo naukowe
Tytuł:
Mitochondrial dysfunction in NPC1-deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol-binding proteins TSPO and StARD1.
Autorzy:
Wheeler S; Leicester School of Pharmacy, De Montfort University, Leicester, UK.
Bhardwaj M; Leicester School of Pharmacy, De Montfort University, Leicester, UK.
Kenyon V; Atomwise, San Francisco, CA, USA.
Ferraz MJ; Leiden Institute of Chemistry, Leiden University, The Netherlands.
Aerts JMFG; Leiden Institute of Chemistry, Leiden University, The Netherlands.
Sillence DJ; Leicester School of Pharmacy, De Montfort University, Leicester, UK.
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Źródło:
FEBS letters [FEBS Lett] 2024 Feb; Vol. 598 (4), pp. 477-484. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Niemann-Pick Disease, Type C*/drug therapy
Niemann-Pick Disease, Type C*/genetics
Niemann-Pick Disease, Type C*/metabolism
Mitochondrial Diseases*
Phosphoproteins*
Humans ; Glucosylceramidase/genetics ; Glucosylceramidase/metabolism ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Cholesterol/metabolism ; Niemann-Pick C1 Protein/metabolism ; Receptors, GABA/metabolism
Czasopismo naukowe

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