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Tytuł:
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
Autorzy:
Hesami H; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Ghasemi S; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Houshmand G; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Nilipour Y; Pediatric Pathology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Hesami M; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Biglari A; School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Nafissi S; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Maleki M; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kalayinia S; Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. .
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Mar 27; Vol. 25 (1), pp. 241. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Adult ; Humans ; Young Adult ; Dysferlin/genetics ; Mutation ; Mutation, Missense ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of Dysferlin Direct Interactions with Putative Repair Proteins Links Apoptotic Signaling to Ca Elevation via PDCD6 and FKBP8.
Autorzy:
Drescher DG; Laboratory of Bio-otology, Department of Otolaryngology, Wayne State University School of Medicine, Detroit, MI 48201, USA.; Department of Biochemistry, Microbiology and Immunology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Drescher MJ; Laboratory of Bio-otology, Department of Otolaryngology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Selvakumar D; Laboratory of Bio-otology, Department of Otolaryngology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Annam NP; Laboratory of Bio-otology, Department of Otolaryngology, Wayne State University School of Medicine, Detroit, MI 48201, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 28; Vol. 24 (5). Date of Electronic Publication: 2023 Feb 28.
Typ publikacji:
Journal Article
MeSH Terms:
Calcium*/metabolism
Dysferlin*/metabolism
Muscle, Skeletal*/injuries
Muscle, Skeletal*/physiology
Calcium-Binding Proteins*/metabolism
Apoptosis Regulatory Proteins*/metabolism
Tacrolimus Binding Proteins*/metabolism
Regeneration*
Annexin A1/metabolism ; Calpain/metabolism ; Caveolin 3/metabolism ; Sarcolemma/metabolism ; Surface Plasmon Resonance ; Apoptosis ; Signal Transduction ; Animals ; Rats
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An in-frame pseudoexon activation caused by a novel deep-intronic variant in the dysferlin gene.
Autorzy:
Sun C; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Xie Z; Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
Cong L; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Xu Y; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Liu Z; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Feb; Vol. 10 (2), pp. 292-296. Date of Electronic Publication: 2022 Dec 21.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
Dysferlin*/genetics
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Male ; Mutation ; RNA, Messenger ; Exons/genetics
SCR Disease Name:
Dysferlinopathy
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Autorzy:
Folland C; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Johnsen R; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia.
Botero Gomez A; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
Trajanoski D; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
Davis MR; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
Moore U; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK.
Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK.
Barresi R; IRCCS San Camillo Hospital, Venice, Italy.
Guglieri M; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, UK.
Hayhurst H; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Schaefer AM; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Laing NG; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Lamont PJ; Neurogenetic Unit, Royal Perth Hospital, Perth, Western Australia, Australia.
Ravenscroft G; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
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Źródło:
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Dec; Vol. 48 (7), pp. e12846. Date of Electronic Publication: 2022 Aug 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dysferlin*/genetics
Muscular Dystrophies*
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Membrane Proteins/genetics ; Muscle Proteins/genetics ; Muscle, Skeletal/pathology ; Pedigree ; Male ; Female
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Autorzy:
Chen YL; Center for Precision Medicine and Genomics, Tri-Service General Hospital, Medical Defense Medical Center, Taipei, Taiwan.; Department of Pathology, Tri-Service General Hospital, Medical Defense Medical Center, Taipei, Taiwan.
Wu WB; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
Wang P; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
Yip PK; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.; Division of Neurology, Cardinal Tien Hospital, New Taipei City, Taiwan.
Wu YN; School of Medicine, College of Medicine, Fu Je Catholic University, New Taipei City, Taiwan.
Lin YH; Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University, New Taipei City, Taiwan.
Lin WN; Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University, New Taipei City, Taiwan.
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Źródło:
Physiological reports [Physiol Rep] 2023 Dec; Vol. 11 (24), pp. e15887.
Typ publikacji:
Case Reports
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Dysferlin/genetics ; Mutation ; Muscular Atrophy ; Inheritance Patterns
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins.
Autorzy:
Lloyd EM; Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, Perth, WA 6009, Australia.
Pinniger GJ; Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, Perth, WA 6009, Australia.
Grounds MD; Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, Perth, WA 6009, Australia.
Murphy RM; Department of Biochemistry and Chemistry, School of Agriculture, Biomedicine and Environment, La Trobe University, Melbourne, VIC 3086, Australia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 21; Vol. 24 (1). Date of Electronic Publication: 2022 Dec 21.
Typ publikacji:
Journal Article
MeSH Terms:
Calcium*/metabolism
Dysferlin*/deficiency
Glycogen*/metabolism
Animals ; Male ; Mice ; Glucose/metabolism ; Mice, Inbred C57BL ; Muscle, Skeletal/metabolism
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis.
Autorzy:
Chernova ON; Human Morphology Department, North-Western State Medical University named after I.I. Mechnikov, Saint-Petersburg, Russian Federation.; Pathology and Forensic Medicine Department, Saint-Petersburg Medico-Social Institute, Saint-Petersburg, Russian Federation.
Chekmareva IA; A.V. Vishnevsky National Medical Research Center of Surgery, Moscow, Russian Federation.
Mavlikeev MO; Pathology Department, North-Western State Medical University named after I.I. Mechnikov, Saint-Petersburg, Russian Federation.
Yakovlev IA; Genotarget LLC, Moscow, Russian Federation.; Human Stem Cell Institute PJSC, Moscow, Russian Federation.
Kiyasov AP; Morphology and General Pathology Department, Kazan (Volga region) Federal University, Kazan, Russian Federation.
Deev RV; Pathology Department, North-Western State Medical University named after I.I. Mechnikov, Saint-Petersburg, Russian Federation.; Human Stem Cell Institute PJSC, Moscow, Russian Federation.
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Źródło:
Ultrastructural pathology [Ultrastruct Pathol] 2022 Jul 04; Vol. 46 (4), pp. 359-367. Date of Electronic Publication: 2022 Jul 26.
Typ publikacji:
Journal Article
MeSH Terms:
Dysferlin*/genetics
Dysferlin*/metabolism
Muscle, Skeletal*/pathology
Muscular Dystrophies, Limb-Girdle*/pathology
Animals ; Mice ; Mice, Inbred C57BL ; Muscle Fibers, Skeletal/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2.
Autorzy:
Yakovlev IA; Genotarget LLC, Skolkovo Innovation Center, 121205 Moscow, Russia.; PJSC Human Stem Cells Institute, 129110 Moscow, Russia.
Emelin AM; Department of Pathological Anatomy, I. I. Mechnikov North-West State Medical University, Ministry of Health of the Russian Federation, 191036 St. Petersburg, Russia.
Slesarenko YS; Genotarget LLC, Skolkovo Innovation Center, 121205 Moscow, Russia.
Limaev IS; Department of Pathological Anatomy, I. I. Mechnikov North-West State Medical University, Ministry of Health of the Russian Federation, 191036 St. Petersburg, Russia.
Vetrova IA; Department of Pathological Anatomy, I. I. Mechnikov North-West State Medical University, Ministry of Health of the Russian Federation, 191036 St. Petersburg, Russia.
Belikova LD; Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119992 Moscow, Russia.
Grafskaia EN; Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.
Bobrovsky PA; Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.
Pokrovsky MV; Laboratory for Modeling and Gene Therapy of Human Diseases, Belgorod State National Research University, 308015 Belgorod, Russia.
Kuzubova EV; Laboratory for Modeling and Gene Therapy of Human Diseases, Belgorod State National Research University, 308015 Belgorod, Russia.
Pokrovsky VM; Laboratory for Modeling and Gene Therapy of Human Diseases, Belgorod State National Research University, 308015 Belgorod, Russia.
Lebedev PA; Laboratory for Modeling and Gene Therapy of Human Diseases, Belgorod State National Research University, 308015 Belgorod, Russia.
Bardakov SN; PJSC Human Stem Cells Institute, 129110 Moscow, Russia.
Isaev AA; PJSC Human Stem Cells Institute, 129110 Moscow, Russia.
Deev RV; Genotarget LLC, Skolkovo Innovation Center, 121205 Moscow, Russia.; PJSC Human Stem Cells Institute, 129110 Moscow, Russia.; Department of Pathological Anatomy, I. I. Mechnikov North-West State Medical University, Ministry of Health of the Russian Federation, 191036 St. Petersburg, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 31; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:
Journal Article
MeSH Terms:
Dependovirus*/genetics
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/therapy
Animals ; Mice ; Dysferlin/genetics ; Codon ; Muscle Fibers, Skeletal ; RNA, Messenger
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Beevor's Sign in Limb Girdle Dysferlinopathy Due to a Novel Mutation.
Autorzy:
Usman S; Department of Neurology, MES Medical College, Perinthalmanna, Kerala, India.
Khan FS; Department of Neurology, MES Medical College, Perinthalmanna, Kerala, India.
Subir AH; Department of Neurology, MES Medical College, Perinthalmanna, Kerala, India.
A Ghafoor FP; Department of Neurology, MES Medical College, Perinthalmanna, Kerala, India.
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Źródło:
Neurology India [Neurol India] 2023 Sep-Oct; Vol. 71 (5), pp. 1061-1062.
Typ publikacji:
Letter
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Muscle Weakness ; Mutation/genetics ; Dysferlin/genetics
SCR Disease Name:
Dysferlinopathy
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle.
Autorzy:
Barefield DY; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 303 E Superior Lurie 5-500, Chicago, IL, 60611, USA. .; Department of Cell and Molecular Physiology, Loyola University Chicago, 2160 S. 1st Ave, Maywood, IL, 60153, USA. .
Sell JJ; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 303 E Superior Lurie 5-500, Chicago, IL, 60611, USA.
Tahtah I; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 303 E Superior Lurie 5-500, Chicago, IL, 60611, USA.
Kearns SD; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 303 E Superior Lurie 5-500, Chicago, IL, 60611, USA.
McNally EM; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 303 E Superior Lurie 5-500, Chicago, IL, 60611, USA.
Demonbreun AR; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 303 E Superior Lurie 5-500, Chicago, IL, 60611, USA. .; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. .; Center for Genetic Medicine, Northwestern University, 303 E Superior Lurie 5-512, Chicago, IL, 60611, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Aug 05; Vol. 11 (1), pp. 15865. Date of Electronic Publication: 2021 Aug 05.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Dysferlin/*metabolism
Excitation Contraction Coupling/*physiology
Membrane Proteins/*metabolism
Muscle Proteins/*metabolism
Animals ; Calcium-Binding Proteins/metabolism ; Cell Membrane/metabolism ; Dysferlin/genetics ; Female ; Male ; Membrane Fusion/physiology ; Membrane Proteins/genetics ; Mice ; Mice, 129 Strain ; Muscle Contraction/physiology ; Muscle Proteins/genetics ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiology ; Muscular Dystrophies/physiopathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Sarcolemma wounding activates dynamin-dependent endocytosis in striated muscle.
Autorzy:
McDade JR; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
Naylor MT; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA.
Michele DE; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA.; Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI, USA.
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Źródło:
The FEBS journal [FEBS J] 2021 Jan; Vol. 288 (1), pp. 160-174. Date of Electronic Publication: 2020 Sep 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Calcium/*metabolism
Dynamins/*genetics
Dysferlin/*genetics
Endocytosis/*genetics
Sarcolemma/*genetics
Animals ; Animals, Genetically Modified ; Dimethyl Sulfoxide/pharmacology ; Dynamins/metabolism ; Dysferlin/metabolism ; Fluorescent Dyes/metabolism ; Gene Expression Regulation ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Hydrazones/pharmacology ; Mice ; Mice, Inbred C57BL ; Muscle Fibers, Skeletal/metabolism ; Muscle Fibers, Skeletal/pathology ; Pyridinium Compounds/metabolism ; Quaternary Ammonium Compounds/metabolism ; Sarcolemma/drug effects ; Sarcolemma/metabolism ; Sarcolemma/pathology ; Staining and Labeling/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.
Autorzy:
Yasa J; Kids Neuroscience Centre, The Children's Hospital at Westmead, Cnr Hawkesbury Road, Hainsworth Street, Westmead, Sydney, NSW, 2145, Australia.; Functional Neuromics, Children's Medical Research Institute, Westmead, Sydney, NSW, Australia.
Reed CE; Kids Neuroscience Centre, The Children's Hospital at Westmead, Cnr Hawkesbury Road, Hainsworth Street, Westmead, Sydney, NSW, 2145, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Cnr Hawkesbury Road, Hainsworth Street, Westmead, Sydney, NSW, 2145, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
Evesson FJ; Kids Neuroscience Centre, The Children's Hospital at Westmead, Cnr Hawkesbury Road, Hainsworth Street, Westmead, Sydney, NSW, 2145, Australia.; Functional Neuromics, Children's Medical Research Institute, Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
Pang I; Synapse Proteomics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia.
Graham ME; Synapse Proteomics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia.
Wark JR; Operations, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia.
Nijagal B; Metabolomics Australia, Bio21 Institute, The University of Melbourne, Victoria, Australia.
Kwan KH; Metabolomics Australia, Bio21 Institute, The University of Melbourne, Victoria, Australia.
Kwiatkowski T; West Chester University, West Chester, PA, 19383, USA.
Jung R; Department of Physiology and Cell Biology, Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, 43210-1252, USA.
Weisleder N; Department of Physiology and Cell Biology, Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, 43210-1252, USA.
Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Cnr Hawkesbury Road, Hainsworth Street, Westmead, Sydney, NSW, 2145, Australia.; Functional Neuromics, Children's Medical Research Institute, Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia.
Lemckert FA; Kids Neuroscience Centre, The Children's Hospital at Westmead, Cnr Hawkesbury Road, Hainsworth Street, Westmead, Sydney, NSW, 2145, Australia. .; Functional Neuromics, Children's Medical Research Institute, Westmead, Sydney, NSW, Australia. .; Discipline of Child and Adolescent Health, Faculty of Medicine, University of Sydney, Sydney, NSW, Australia. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Jan 18; Vol. 11 (1), pp. 15. Date of Electronic Publication: 2023 Jan 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Membrane Proteins*/metabolism
Muscular Dystrophies, Limb-Girdle*/pathology
Mice ; Animals ; Dysferlin/genetics ; Dysferlin/metabolism ; Mice, Knockout ; Calpain/genetics ; Proteomics ; Muscle, Skeletal/pathology ; Exons/genetics
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice.
Autorzy:
White Z; Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), 217-2176 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada.
Sun Z; Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), 217-2176 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada.
Sauge E; Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), 217-2176 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada.
Cox D; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
Donen G; Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), 217-2176 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada.
Pechkovsky D; Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), 217-2176 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada.; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada.
Straub V; Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.
Francis GA; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada.; Department of Medicine, UBC, Vancouver, Canada.
Bernatchez P; Department of Anesthesiology, Pharmacology & Therapeutics, University of British Columbia (UBC), 217-2176 Health Sciences Mall, Vancouver, BC, V6T 1Z3, Canada. .; UBC Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, Canada. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2022 Nov 29; Vol. 12 (1), pp. 25. Date of Electronic Publication: 2022 Nov 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hydroxymethylglutaryl-CoA Reductase Inhibitors*/pharmacology
Hydroxymethylglutaryl-CoA Reductase Inhibitors*/therapeutic use
Muscular Dystrophies, Limb-Girdle*/drug therapy
Muscular Dystrophies, Limb-Girdle*/genetics
Mice ; Animals ; Dysferlin/genetics ; Dystrophin ; Cholesterol, HDL ; Muscular Atrophy ; Simvastatin/pharmacology ; Simvastatin/therapeutic use
SCR Disease Name:
Limb-girdle muscular dystrophy, type 2B
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
Autorzy:
Wang N; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Han X; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Hao S; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Han J; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Zhou X; MyGenosticsInc, Beijing, China.
Sun S; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Tang J; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Lu Y; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Wu H; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Ma S; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
Song X; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China. .; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China. .
Ji G; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China. .; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China. .
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Źródło:
BMC neurology [BMC Neurol] 2022 Nov 01; Vol. 22 (1), pp. 398. Date of Electronic Publication: 2022 Nov 01.
Typ publikacji:
Journal Article
MeSH Terms:
Distal Myopathies*/genetics
Distal Myopathies*/pathology
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; China ; Diagnostic Errors ; Dysferlin/genetics ; Membrane Proteins/genetics ; Muscle Proteins/genetics ; Mutation
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains.
Autorzy:
Báez-Matus X; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
Figueroa-Cares C; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
Gónzalez-Jamett AM; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
Almarza-Salazar H; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
Arriagada C; Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago 8389100, Chile.
Maldifassi MC; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
Guerra MJ; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
Mouly V; Sorbonne Université, Inserm, Institut de Myologie, UMRS 974, Center for Research in Myology, 75013 Paris, France.
Bigot A; Sorbonne Université, Inserm, Institut de Myologie, UMRS 974, Center for Research in Myology, 75013 Paris, France.
Caviedes P; Programa de Farmacología Molecular y Clínica, ICBM, Facultad de Medicina, Universidad de Chile, Santiago 8389100, Chile.; Centro de Biotecnología y Bioingeniería (CeBiB), Departamento de Ingeniería Química, Biotecnología y Materiales, Facultad de Ciencias Físicas y Matemáticas, Universidad de Chile, Santiago 8370456, Chile.
Cárdenas AM; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Dec 19; Vol. 21 (1). Date of Electronic Publication: 2019 Dec 19.
Typ publikacji:
Journal Article
MeSH Terms:
Actins/*metabolism
Dysferlin/*chemistry
Muscular Dystrophies, Limb-Girdle/*metabolism
Myoblasts/*cytology
Actin Cytoskeleton/metabolism ; Actins/genetics ; Adolescent ; Adult ; Cell Line ; Dysferlin/genetics ; Dysferlin/metabolism ; Female ; Humans ; Male ; Muscular Dystrophies, Limb-Girdle/genetics ; Myoblasts/metabolism ; Protein Domains
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models.
Autorzy:
Vallecillo-Zúniga ML; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Rathgeber MF; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Poulson PD; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Hayes S; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Luddington JS; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Gill HN; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Teynor M; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Kartchner BC; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Valdoz J; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Stowell C; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Markham AR; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
Arthur C; Center for Apheresis, Emory Hospital, Laboratory and Blood Bank, Emory Orthopaedics and Spine Hospital, Center for Transfusion and Cellular Therapies, School of Medicine, Emory University, Atlanta, GA, United States of America.
Stowell S; Center for Apheresis, Emory Hospital, Laboratory and Blood Bank, Emory Orthopaedics and Spine Hospital, Center for Transfusion and Cellular Therapies, School of Medicine, Emory University, Atlanta, GA, United States of America.
Van Ry PM; Department of Chemistry & Biochemistry, Brigham Young University, Provo, UT, United States of America.
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Źródło:
PloS one [PLoS One] 2020 Sep 03; Vol. 15 (9), pp. e0238441. Date of Electronic Publication: 2020 Sep 03 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dysferlin/*genetics
Galectin 1/*pharmacology
Muscular Dystrophies, Limb-Girdle/*therapy
Animals ; Cell Line ; Disease Models, Animal ; Dysferlin/metabolism ; Galectin 1/metabolism ; Male ; Membrane Proteins/metabolism ; Membranes/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Muscle Development/genetics ; Muscle Fibers, Skeletal/metabolism ; Muscle Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscular Dystrophies, Limb-Girdle/metabolism ; Myofibrils/metabolism
SCR Disease Name:
Limb-girdle muscular dystrophy, type 2B
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Ischemia reperfusion injury provokes adverse left ventricular remodeling in dysferlin-deficient hearts through a pathway that involves TIRAP dependent signaling.
Autorzy:
Evans S; Center for Cardiovascular Research, Cardiovascular Division, Division of Cardiology, Washington University School of Medicine, 660 S. Euclid Ave,, Campus Box 8086, St. Louis, MO, 63110, USA.
Weinheimer CJ; Center for Cardiovascular Research, Cardiovascular Division, Division of Cardiology, Washington University School of Medicine, 660 S. Euclid Ave,, Campus Box 8086, St. Louis, MO, 63110, USA.
Kovacs A; Center for Cardiovascular Research, Cardiovascular Division, Division of Cardiology, Washington University School of Medicine, 660 S. Euclid Ave,, Campus Box 8086, St. Louis, MO, 63110, USA.
Williams JW; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.
Randolph GJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.
Jiang W; Center for Cardiovascular Research, Cardiovascular Division, Division of Cardiology, Washington University School of Medicine, 660 S. Euclid Ave,, Campus Box 8086, St. Louis, MO, 63110, USA.
Barger PM; Center for Cardiovascular Research, Cardiovascular Division, Division of Cardiology, Washington University School of Medicine, 660 S. Euclid Ave,, Campus Box 8086, St. Louis, MO, 63110, USA.
Mann DL; Center for Cardiovascular Research, Cardiovascular Division, Division of Cardiology, Washington University School of Medicine, 660 S. Euclid Ave,, Campus Box 8086, St. Louis, MO, 63110, USA. .
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Źródło:
Scientific reports [Sci Rep] 2020 Aug 24; Vol. 10 (1), pp. 14129. Date of Electronic Publication: 2020 Aug 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Dysferlin/*genetics
Membrane Glycoproteins/*metabolism
Myocardial Ischemia/*pathology
Receptors, Interleukin-1/*metabolism
Reperfusion Injury/*pathology
Ventricular Remodeling/*physiology
Animals ; Cardiotonic Agents/pharmacology ; Dysferlin/deficiency ; Inflammation/pathology ; Membrane Glycoproteins/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Myocardium/pathology ; Phospholipids/metabolism ; Poloxamer/pharmacology ; Receptors, Interleukin-1/genetics ; Sarcolemma/physiology ; Signal Transduction ; Surface-Active Agents/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Blockade of Hemichannels Normalizes the Differentiation Fate of Myoblasts and Features of Skeletal Muscles from Dysferlin-Deficient Mice.
Autorzy:
Cea LA; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago 8910060, Chile.
Fernández G; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago 8910060, Chile.
Arias-Bravo G; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago 8910060, Chile.
Castillo-Ruiz M; Escuela de Química y Farmacia, Facultad de Medicina, Universidad Andres Bello, Santiago 8370149, Chile.; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O Higgins, Santiago 8370854, Chile.
Escamilla R; Instituto de Neurociencias, Centro Interdisciplinario de Neurociencias de Valparaíso, Universidad de Valparaíso, Valparaíso 2340000, Chile.
Brañes MC; Consorcio de Investigación Naturalis SA, Santiago 8700000, Chile.
Sáez JC; Instituto de Neurociencias, Centro Interdisciplinario de Neurociencias de Valparaíso, Universidad de Valparaíso, Valparaíso 2340000, Chile.; Departamento de Fisiología, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, Santiago 8320000, Chile.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Aug 21; Vol. 21 (17). Date of Electronic Publication: 2020 Aug 21.
Typ publikacji:
Journal Article
MeSH Terms:
Aporphines/*pharmacology
Connexins/*metabolism
Dysferlin/*genetics
Muscle, Skeletal/*pathology
Myoblasts/*pathology
Animals ; Cell Differentiation/drug effects ; Dysferlin/deficiency ; Humans ; Male ; Mice, Inbred C57BL ; Mice, Mutant Strains ; Muscle Fibers, Skeletal/drug effects ; Muscle Fibers, Skeletal/pathology ; Muscle, Skeletal/drug effects ; Muscle, Skeletal/immunology ; Muscular Dystrophies, Limb-Girdle/pathology ; Myoblasts/drug effects ; Neuromuscular Depolarizing Agents/pharmacology ; Rotarod Performance Test ; Sarcolemma/drug effects
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Autorzy:
Spadafora P; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.
Qualtieri A; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.
Cavalcanti F; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.
Di Palma G; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.
Gallo O; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.
De Benedittis S; Department of Medical and Surgical Sciences, Magna Graecia University, 88100 CZ Germaneto, Italy.
Cerantonio A; Department of Experimental and Clinical Medicine, Magna Graecia University, 88100 CZ Germaneto, Italy.
Citrigno L; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Aug 11; Vol. 23 (16). Date of Electronic Publication: 2022 Aug 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Distal Myopathies*
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/pathology
Dysferlin/genetics ; Homozygote ; Humans ; Middle Aged ; Muscular Atrophy ; Mutation
SCR Disease Name:
Limb-girdle muscular dystrophy, type 2B
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Deficient Sarcolemma Repair in ALS: A Novel Mechanism with Therapeutic Potential.
Autorzy:
Li A; Department of Kinesiology, College of Nursing and Health Innovation, University of Texas at Arlington, Arlington, TX 76019, USA.
Yi J; Department of Kinesiology, College of Nursing and Health Innovation, University of Texas at Arlington, Arlington, TX 76019, USA.
Li X; Department of Kinesiology, College of Nursing and Health Innovation, University of Texas at Arlington, Arlington, TX 76019, USA.
Dong L; Department of Kinesiology, College of Nursing and Health Innovation, University of Texas at Arlington, Arlington, TX 76019, USA.
Ostrow LW; Department of Neurology, Lewis Katz School of Medicine at Temple University, Philadelphia, PA 19122, USA.
Ma J; Department of Surgery, University of Virginia, Charlottesville, VA 22903, USA.
Zhou J; Department of Kinesiology, College of Nursing and Health Innovation, University of Texas at Arlington, Arlington, TX 76019, USA.
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Źródło:
Cells [Cells] 2022 Oct 17; Vol. 11 (20). Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Journal Article; Review; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/metabolism
Amyotrophic Lateral Sclerosis*/pathology
Amyotrophic Lateral Sclerosis*/therapy
Sarcolemma*/metabolism
Sarcolemma*/pathology
Regeneration*
Humans ; Annexins/metabolism ; Carrier Proteins/metabolism ; Caveolins/metabolism ; Dysferlin/metabolism ; Membrane Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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