Temat: "duchenne" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Mitochondrial Transplantation Therapy Ameliorates Muscular Dystrophy in mdx Mouse Model.
Autorzy:: Dubinin MV; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.; Prokhorov General Physics Institute, Russian Academy of Sciences, Vavilov St. 38, 119991 Moscow, Russia.
Mikheeva IB; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.
Stepanova AE; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Igoshkina AD; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Cherepanova AA; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Semenova AA; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Sharapov VA; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.
Kireev II; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991 Moscow, Russia.
Belosludtsev KN; Department of Biochemistry, Cell Biology and Microbiology, Mari State University, pl. Lenina 1, 424001 Yoshkar-Ola, Russia.; Laboratory of Mitochondrial Transport, Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Institutskaya 3, 142290 Pushchino, Russia.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2024 Mar 07; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 07.
Typ publikacji:: Journal Article
MeSH Terms:: Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/pathology
Animals ; Mice ; Mice, Inbred mdx ; Calcium/metabolism ; Quality of Life ; Muscle, Skeletal/metabolism ; Mitochondria/metabolism

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Skocz do pozycji: 2.

Tytuł:: A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle.
Autorzy:: In 't Groen SLM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands.; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Franken M; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands.
Bock T; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany.
Krüger M; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany.
de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands.
Pijnappel WWMP; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands. .; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands. .; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. .; Pokaż więcej
Źródło:: Skeletal muscle [Skelet Muscle] 2024 Feb 22; Vol. 14 (1), pp. 3. Date of Electronic Publication: 2024 Feb 22.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/pathology
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/therapy
Muscular Dystrophies, Limb-Girdle*/pathology
Animals ; Humans ; Muscle, Skeletal/metabolism ; Muscle Contraction ; RNA, Small Interfering

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Skocz do pozycji: 3.

Tytuł:: The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.
Autorzy:: Golli T; Department of Child, Adolescent and Developmental Neurology, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Juříková L; Department of Pediatric Neurology, Faculty of Medicine, University Hospital Brno, Masaryk University in Brno, Brno, Moravia, Czech Republic.
Sejersen T; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden.
Dixon C; MASS Team, Suite 99, 95 Mortimer Street, London, W1W 7GB, UK. .; Pokaż więcej
Źródło:: BMC neurology [BMC Neurol] 2024 Feb 21; Vol. 24 (1), pp. 73. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/therapy
Oxadiazoles*
Child ; Humans ; Codon, Nonsense ; Greece ; Sweden ; Israel ; Consensus ; Dystrophin/genetics ; Europe, Eastern

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Skocz do pozycji: 4.

Tytuł:: Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.
Autorzy:: Shen J; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China. .
Ding T; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Sun X; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Yang J; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Zhang Y; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Wang J; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Ge M; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Xu H; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Xie J; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China.
Wang F; Yikon Genomics Company, Ltd, Jiangsu Province, Suzhou, 215000, China.
Diao F; State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, Nanjing, 210029, China. phenix_.; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2024 Mar 19; Vol. 25 (1), pp. 292. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/diagnosis
Humans ; Male ; Dystrophin/genetics ; Exons ; Genomics ; Protein Isoforms/genetics

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Skocz do pozycji: 5.

Tytuł:: LEDT and Idebenone treatment modulate autophagy and improve regenerative capacity in the dystrophic muscle through an AMPK-pathway.
Autorzy:: Silva HNMD; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.
Fernandes EM; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.
Pereira VA; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.
Mizobuti DS; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.
Covatti C; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.
Rocha GLD; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.
Minatel E; Department of Structural and Functional Biology, Institute of Biology, University of Campinas, Campinas, Brazil.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2024 Mar 18; Vol. 19 (3), pp. e0300006. Date of Electronic Publication: 2024 Mar 18 (Print Publication: 2024).
Typ publikacji:: Journal Article
MeSH Terms:: Muscle, Skeletal*/metabolism
Muscular Dystrophy, Duchenne*/drug therapy
Muscular Dystrophy, Duchenne*/metabolism
Ubiquinone/*analogs & derivatives
Animals ; Mice ; Humans ; Mice, Inbred mdx ; AMP-Activated Protein Kinases/metabolism ; Autophagy ; Disease Models, Animal

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Skocz do pozycji: 6.

Tytuł:: Gait Characterization in Duchenne Muscular Dystrophy (DMD) Using a Single-Sensor Accelerometer: Classical Machine Learning and Deep Learning Approaches.
Autorzy:: Ramli AA; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA.
Liu X; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA.
Berndt K; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Goude E; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Hou J; Department of Electrical and Computer Engineering, School of Engineering, University of Waterloo, Waterloo, ON N2L 3G1, Canada.
Kaethler LB; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Liu R; Department of Computer Science, School of Engineering, University of California, Davis, CA 95616, USA.
Lopez A; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Nicorici A; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Owens C; UC Davis Center for Health and Technology, University of California, Davis, CA 95616, USA.
Rodriguez D; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Wang J; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Zhang H; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Aranki D; Berkeley School of Information, University of California Berkeley, Berkeley, CA 94720, USA.
McDonald CM; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.
Henricson EK; Department of Physical Medicine and Rehabilitation, School of Medicine, University of California, Davis, CA 95616, USA.; Graduate Group in Computer Science (GGCS), University of California, Davis, CA 95616, USA.; Pokaż więcej
Źródło:: Sensors (Basel, Switzerland) [Sensors (Basel)] 2024 Feb 08; Vol. 24 (4). Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*
Deep Learning*
Adolescent ; Humans ; Gait ; Walking ; Accelerometry

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Skocz do pozycji: 7.

Tytuł:: Hematopoietic Prostaglandin D Synthase Is Increased in Mast Cells and Pericytes in Autopsy Myocardial Specimens from Patients with Duchenne Muscular Dystrophy.
Autorzy:: Hamamura K; Laboratory of Chemical Pharmacology, Faculty of Pharmaceutical Sciences, Daiichi University of Pharmacy, Fukuoka 815-8511, Japan.; Department of Clinical Pharmacokinetics, Faculty of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka 812-8582, Japan.
Yoshida Y; Department of Clinical Pharmacokinetics, Faculty of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka 812-8582, Japan.
Oyama K; Department of Pharmaceutics, Faculty of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka 812-8582, Japan.
Li J; Department of Clinical Pharmacokinetics, Faculty of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka 812-8582, Japan.
Kawano S; Department of Clinical Pharmacokinetics, Faculty of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka 812-8582, Japan.
Inoue K; Department of Neurology and Rehabilitation Medicine, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka 560-8552, Japan.
Toyooka K; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka 560-8552, Japan.
Yamadera M; Department of Clinical Research, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka 560-8552, Japan.
Matsunaga N; Department of Clinical Pharmacokinetics, Faculty of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi Higashi-ku, Fukuoka 812-8582, Japan.
Matsumura T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka 560-8552, Japan.
Aritake K; Laboratory of Chemical Pharmacology, Faculty of Pharmaceutical Sciences, Daiichi University of Pharmacy, Fukuoka 815-8511, Japan.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 03; Vol. 25 (3). Date of Electronic Publication: 2024 Feb 03.
Typ publikacji:: Journal Article
MeSH Terms:: Cardiomyopathies*/etiology
Cardiomyopathies*/metabolism
Intramolecular Oxidoreductases*
Lipocalins*
Muscular Dystrophy, Duchenne*/genetics
Animals ; Humans ; Mice ; Disease Models, Animal ; Mast Cells/metabolism ; Mice, Inbred mdx ; Muscle, Skeletal/metabolism ; Myocardium/metabolism ; Pericytes/metabolism

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Skocz do pozycji: 8.

Tytuł:: Histopathologic Changes of the Esophagus in Duchenne Muscular Dystrophy.
Autorzy:: Marshall MR; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Reyes-Múgica M; Department of Pathology, Children's Hospital of Pittsburgh, Chief of Pathology and Head of Laboratories, Pittsburgh, PA, USA.; Pokaż więcej
Źródło:: International journal of surgical pathology [Int J Surg Pathol] 2024 Feb; Vol. 32 (1), pp. 17-20. Date of Electronic Publication: 2023 Apr 16.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/complications
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/pathology
Parakeratosis*/pathology
Adolescent ; Humans ; Male ; Esophagus/pathology ; Muscle, Skeletal/pathology ; Mutation ; Child ; Young Adult

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Skocz do pozycji: 9.

Tytuł:: Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
Autorzy:: Xie Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Liu C; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Yu H; Department of Clinical Laboratory, Peking University First Hospital, Beijing, 100034, China.
Xie Z; Department of Epidemiology and Biostatistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, 610041, China.
Sun C; Department of Neurology, Peking University People's Hospital, Beijing, 100044, China.
Zhu Y; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Hu X; Department of Radiology, Peking University First Hospital, Beijing, 100034, China.
Bai L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wei L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Sun P; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Lu Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhao Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Zhang W; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Wang Z; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
Meng L; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .
Yuan Y; Department of Neurology, Peking University First Hospital, No. 8 Xishiku Street, Xicheng District, Beijing, 100034, China. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 14; Vol. 19 (1), pp. 123. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:: Journal Article
MeSH Terms:: Dystrophin*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Mutation, Missense/genetics ; RNA, Messenger/genetics ; Sarcoglycans/genetics

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Skocz do pozycji: 10.

Tytuł:: Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy.
Autorzy:: Hassani M; Sorbonne Université, Institut de Biologie Paris-Seine, UMR CNRS 8256, INSERM ERL U1164, Biological Adaptation and Ageing, Paris, F-75013 France.
Moutachi D; Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.
Lemaitre M; Sorbonne Université, UMS28, Paris, F-75013 France.
Boulinguiez A; Department of Biological Sciences, Royal Holloway University of London, Surrey, United Kingdom.
Furling D; Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.
Agbulut O; Sorbonne Université, Institut de Biologie Paris-Seine, UMR CNRS 8256, INSERM ERL U1164, Biological Adaptation and Ageing, Paris, F-75013 France.
Ferry A; Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.; Université Paris Cité, F-75006 Paris, France.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2024 Mar 08; Vol. 19 (3), pp. e0295700. Date of Electronic Publication: 2024 Mar 08 (Print Publication: 2024).
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/pathology
Resistance Training*
Cyclosporins*/pharmacology
Humans ; Animals ; Mice ; Mice, Inbred mdx ; Calcineurin/metabolism ; Quality of Life ; Muscle, Skeletal/metabolism ; Disease Models, Animal

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Skocz do pozycji: 11.

Tytuł:: De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.
Autorzy:: d'Apolito M; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Ranaldi A; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Santoro F; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
Cannito S; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Gravina M; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.
Santacroce R; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Ragnatela I; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.
Margaglione A; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
D'Andrea G; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Casavecchia G; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
Brunetti ND; Department of Medical and Surgical Sciences, University of Foggia, 71122 Foggia, Italy.; Cardiology Unit, University Polyclinic Hospital of Foggia, 71122 Foggia, Italy.
Margaglione M; Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 28; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:: Case Reports
MeSH Terms:: Cardiomyopathy, Dilated*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Female ; Adult ; Child ; Dystrophin/genetics ; Mothers
SCR Disease Name:: Dmd-Associated Dilated Cardiomyopathy

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Skocz do pozycji: 12.

Tytuł:: Enhanced Diaphragm Muscle Function upon Satellite Cell Transplantation in Dystrophic Mice.
Autorzy:: Azzag K; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Gransee HM; Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Magli A; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Yamashita AMS; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Tungtur S; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Ahlquist A; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Zhan WZ; Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Onyebu C; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Greising SM; School of Kinesiology, University of Minnesota, Minneapolis, MN 55455, USA.
Mantilla CB; Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN 55905, USA.
Perlingeiro RCR; Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.; Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 21; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/genetics
Mice ; Animals ; Diaphragm ; Mice, Inbred mdx ; Muscle, Skeletal ; Cell Transplantation

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Skocz do pozycji: 13.

Tytuł:: Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.
Autorzy:: Piñol-Jurado P; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Verdú-Díaz J; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Fernández-Simón E; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Domínguez-González C; Neuromuscular Disorders Unit, Neurology Department, imas12 Research Institute, Hospital Universitario, 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
Hernández-Lain A; Neuropathology Unit, imas12 Research Institute, Hospital Universitario, 12 de Octubre, Madrid, Spain.
Lawless C; Translational and Clinical Research Institute, Newcastle University, Newcastle, UK.
Vincent A; Faculty of Medical Sciences, Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.
González-Chamorro A; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Villalobos E; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Monceau A; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Laidler Z; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Mehra P; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Clark J; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Filby A; Newcastle University Biosciences Institute and Innovation Methodology and Application Research Theme, Newcastle University, Newcastle Upon Tyne, UK.
McDonald D; Newcastle University Biosciences Institute and Innovation Methodology and Application Research Theme, Newcastle University, Newcastle Upon Tyne, UK.
Rushton P; Department of Orthopaedic Spine Surgery, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle Upon Tyne, UK.
Bowey A; Department of Orthopaedic Spine Surgery, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle Upon Tyne, UK.
Alonso Pérez J; Neuromuscular Disease Unit, Neurology Department, Hospital Universitario Nuestra Señora de Candelaria, Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC), Tenerife, Spain.
Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK.
Suárez-Calvet X; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Institut d'Investigació Biomèdica Sant Pau (IBB SANT PAU), Barcelona, Spain.
Díaz-Manera J; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute, Center for Life, Central Parkway, Newcastle Upon Tyne, NE13BZ, UK. .; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain. .; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Institut d'Investigació Biomèdica Sant Pau (IBB SANT PAU), Barcelona, Spain. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 Feb 09; Vol. 14 (1), pp. 3365. Date of Electronic Publication: 2024 Feb 09.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/pathology
Humans ; Muscular Atrophy/metabolism ; Muscles/metabolism ; Collagen/metabolism ; Disease Progression ; Image Cytometry ; Muscle, Skeletal/metabolism

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Skocz do pozycji: 14.

Tytuł:: The Impact of miR-155-5p on Myotube Differentiation: Elucidating Molecular Targets in Skeletal Muscle Disorders.
Autorzy:: Lopes LO; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of São Paulo, São Paulo 05508-000, Brazil.
Cury SS; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.
de Moraes D; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.
Oliveira JS; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.
de Oliveira G; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.
Cabral-Marques O; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of São Paulo, São Paulo 05508-000, Brazil.; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-000, Brazil.; Network of Immunity in Infection, Malignancy, and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), São Paulo 05508-000, Brazil.; Department of Medicine, Division of Molecular Medicine, University of São Paulo School of Medicine, São Paulo 05403-010, Brazil.; Laboratory of Medical Investigation 29, University of São Paulo School of Medicine, São Paulo 05403-010, Brazil.; Interunit Postgraduate Program on Bioinformatics, Institute of Mathematics and Statistics (IME), University of São Paulo, São Paulo 05508-090, Brazil.
Fernandez GJ; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.; College of Medicine, University of Antioquia, UdeA, Medellín 53-108, Colombia.
Hirata MH; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of São Paulo, São Paulo 05508-000, Brazil.
Wang DZ; Health Heart Institute, Center for Regenerative Medicine, University of South Florida, Tampa, FL 33612, USA.
Dal-Pai-Silva M; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.
Carvalho RF; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.
Freire PP; Department of Structural and Functional Biology, Institute of Biosciences, São Paulo State University (UNESP), Botucatu 18618-689, Brazil.; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of São Paulo, São Paulo 05508-000, Brazil.; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-000, Brazil.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 01; Vol. 25 (3). Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:: Journal Article
MeSH Terms:: MicroRNAs*/genetics
MicroRNAs*/metabolism
Muscular Dystrophy, Duchenne*/genetics
Humans ; Muscle, Skeletal/metabolism ; Muscle Fibers, Skeletal/metabolism ; Cell Differentiation/genetics

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Skocz do pozycji: 15.

Tytuł:: A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.
Autorzy:: Sun MX; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Jing M; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Hua Y; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China. .
Wang JB; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Wang SQ; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Chen LL; Department of Neurology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Ju L; Department of Cardiology, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Liu YS; Department of Pediatric Laboratory, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China. Liu_.; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Feb 01; Vol. 17 (1), pp. 46. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Dystrophy, Duchenne*/genetics
Humans ; Female ; Child, Preschool ; Genetic Testing ; Phenotype ; Mutation ; Chromosomes

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Skocz do pozycji: 16.

Tytuł:: Advancing Biomarker Discovery and Therapeutic Targets in Duchenne Muscular Dystrophy: A Comprehensive Review.
Autorzy:: Molinaro M; Neurology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.
Torrente Y; Neurology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.; Stem Cell Laboratory, Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20100 Milan, Italy.
Villa C; Stem Cell Laboratory, Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, 20100 Milan, Italy.
Farini A; Neurology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 03; Vol. 25 (1). Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Muscular Dystrophy, Duchenne*/diagnosis
Muscular Dystrophy, Duchenne*/drug therapy
Muscular Dystrophy, Duchenne*/genetics
Biomedical Research*
Gastrointestinal Microbiome*
Humans ; Muscle, Skeletal ; Chromosome Mapping

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Skocz do pozycji: 17.

Tytuł:: Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis.
Autorzy:: Hua C; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, China.
Liu L; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, China.
Kong X; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2023 Dec 01; Vol. 16 (1), pp. 310. Date of Electronic Publication: 2023 Dec 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Multiplex Polymerase Chain Reaction*
Muscular Dystrophy, Duchenne*/diagnosis
Muscular Dystrophy, Duchenne*/genetics
Humans ; Male ; Female ; Pregnancy ; Retrospective Studies ; Exons ; Prenatal Diagnosis/methods ; Fetus

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Skocz do pozycji: 18.

Tytuł:: Natural history of Duchenne muscular dystrophy in the United Kingdom: A descriptive study using the Clinical Practice Research Datalink.
Autorzy:: Broomfield J; Department of Population Health Sciences, University of Leicester, Leicester, UK.
Abrams K; Department of Statistics, University of Warwick, Coventry, UK.; Centre for Health Economics, University of York, York, UK.
Latimer N; School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, UK.
Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS, Newcastle, UK.
Rutherford M; Department of Population Health Sciences, University of Leicester, Leicester, UK.
Crowther M; Red Door Analytics, Stockholm, Sweden.; Pokaż więcej
Źródło:: Brain and behavior [Brain Behav] 2023 Dec; Vol. 13 (12), pp. e3331. Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Muscular Dystrophy, Duchenne*/epidemiology
Muscular Dystrophy, Duchenne*/therapy
Cardiomyopathies*/complications
Humans ; Male ; Retrospective Studies ; Longitudinal Studies ; Adrenal Cortex Hormones ; United Kingdom/epidemiology

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Skocz do pozycji: 19.

Tytuł:: Electrical impedance myography detects dystrophin-related muscle changes in mdx mice.
Autorzy:: Hiyoshi T; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Zhao F; Center of Excellence for Imaging, Preclinical and Translational Sciences, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Baba R; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Hirakawa T; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Kuboki R; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Suzuki K; Muscular Disease and Neuropathy Unit, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
Tomimatsu Y; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan.
O'Donnell P; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Han S; Neuroscience Therapeutic Area Unit, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Zach N; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Development Center Americas, Inc., 95 Hayden Avenue, Lexington, MA, 02141, USA.
Nakashima M; Neuroscience Translational Medicine, Neuroscience Drug Discovery Unit, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-Chome, Fujisawa, Kanagawa, 251-8555, Japan. .; Pokaż więcej
Źródło:: Skeletal muscle [Skelet Muscle] 2023 Nov 18; Vol. 13 (1), pp. 19. Date of Electronic Publication: 2023 Nov 18.
Typ publikacji:: Journal Article
MeSH Terms:: Dystrophin*/genetics
Dystrophin*/metabolism
Muscular Dystrophy, Duchenne*/diagnostic imaging
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/pathology
Mice ; Animals ; Mice, Inbred mdx ; Electric Impedance ; Mice, Inbred C57BL ; Muscle, Skeletal/metabolism ; Morpholinos/pharmacology ; Morpholinos/therapeutic use ; Myography ; Biomarkers

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Skocz do pozycji: 20.

Tytuł:: Proteome Profiling of the Dystrophic mdx Mice Diaphragm.
Autorzy:: Mucha O; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University in Krakow, Gronostajowa 7 Street, 30-387 Kraków, Poland.
Myszka M; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University in Krakow, Gronostajowa 7 Street, 30-387 Kraków, Poland.; Doctoral School of Exact and Natural Sciences, Łojasiewicza 11 Street, 30-348 Kraków, Poland.
Podkalicka P; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University in Krakow, Gronostajowa 7 Street, 30-387 Kraków, Poland.
Świderska B; Mass Spectrometry Laboratory, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawińskiego 5a Street, 02-106 Warsaw, Poland.
Malinowska A; Mass Spectrometry Laboratory, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawińskiego 5a Street, 02-106 Warsaw, Poland.
Dulak J; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University in Krakow, Gronostajowa 7 Street, 30-387 Kraków, Poland.
Łoboda A; Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University in Krakow, Gronostajowa 7 Street, 30-387 Kraków, Poland.; Pokaż więcej
Źródło:: Biomolecules [Biomolecules] 2023 Nov 13; Vol. 13 (11). Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Diaphragm*/metabolism
Muscular Dystrophy, Duchenne*/genetics
Muscular Dystrophy, Duchenne*/metabolism
Animals ; Mice ; Mice, Inbred mdx ; Proteome/metabolism ; Muscle, Skeletal/metabolism ; Mice, Inbred C57BL

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