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Wyszukujesz frazę ""Muscular Dystrophies"" wg kryterium: Temat


Tytuł:
Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.
Autorzy:
Zrelski MM; Department of Cell and Developmental Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Hösele S; Department of Cell and Developmental Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Kustermann M; Department of Cell and Developmental Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Fichtinger P; Department of Cell and Developmental Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria.
Kah D; Center for Medical Physics and Technology, Department of Physics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Athanasiou I; Department of Dermatology, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Esser PR; Department of Dermatology, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Wagner A; Core Facility Proteomics, Medical University of Vienna, Vienna, Austria; Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria; Christian Doppler Laboratory for Molecular Stress Research in Peritoneal Dialysis, Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Austria.
Herzog R; Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria; Christian Doppler Laboratory for Molecular Stress Research in Peritoneal Dialysis, Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Austria.
Kratochwill K; Core Facility Proteomics, Medical University of Vienna, Vienna, Austria; Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria; Christian Doppler Laboratory for Molecular Stress Research in Peritoneal Dialysis, Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Austria.
Goldmann WH; Center for Medical Physics and Technology, Department of Physics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Kiritsi D; Department of Dermatology, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Winter L; Department of Cell and Developmental Biology, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria. Electronic address: .
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Źródło:
The Journal of investigative dermatology [J Invest Dermatol] 2024 Mar; Vol. 144 (3), pp. 547-562.e9. Date of Electronic Publication: 2023 Sep 15.
Typ publikacji:
Journal Article
MeSH Terms:
Epidermolysis Bullosa Simplex*/pathology
Muscular Dystrophies*/complications
Muscular Dystrophies*/genetics
Muscular Dystrophies*/metabolism
Muscular Dystrophies, Limb-Girdle*
Humans ; Intermediate Filaments/metabolism ; Plectin/genetics ; Mitochondria/metabolism ; Fibroblasts/metabolism ; Intermediate Filament Proteins/metabolism
SCR Disease Name:
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Czasopismo naukowe
Tytuł:
The super-healing MRL strain promotes muscle growth in muscular dystrophy through a regenerative extracellular matrix.
Autorzy:
O'Brien JG; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Willis AB; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Long AM; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Kwon J; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Lee G; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Li FW; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Page PG; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Vo AH; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Hadhazy M; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Spencer MJ; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Crosbie RH; Department of Integrative Biology and Physiology, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
Demonbreun AR; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
McNally EM; Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
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Źródło:
JCI insight [JCI Insight] 2024 Jan 04; Vol. 9 (3). Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies*/genetics
Muscular Dystrophies, Limb-Girdle*
Mice ; Animals ; Mice, Inbred DBA ; Muscles ; Extracellular Matrix ; Mice, Knockout
Czasopismo naukowe
Tytuł:
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Autorzy:
Jensen S; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway, 9038, Tromsø, Norway. .; Department of Clinical Medicine, Faculty of Health Sciences, University of Tromsø-The Artic University of Norway, Tromsø, Norway. .
Abeler K; Department of Clinical Medicine, Faculty of Health Sciences, University of Tromsø-The Artic University of Norway, Tromsø, Norway.; Department of Neurology and Neurophysiology, University Hospital of North Norway, Tromsø, Norway.
Friborg O; Department of Psychology, Faculty of Health Sciences, University of Tromsø-The Artic University of Norway, Tromsø, Norway.
Rosner A; Department of Clinical Medicine, Faculty of Health Sciences, University of Tromsø-The Artic University of Norway, Tromsø, Norway.; Department of Cardiology, University Hospital of North Norway, Tromsø, Norway.
Olsborg C; Department of Neurology and Neurophysiology, University Hospital of North Norway, Tromsø, Norway.
Mellgren SI; Department of Clinical Medicine, Faculty of Health Sciences, University of Tromsø-The Artic University of Norway, Tromsø, Norway.
Müller KI; Department of Neurology, Sørlandet Hospital Trust, Kristiansand, Norway.
Rosenberger AD; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway, 9038, Tromsø, Norway.
Vold ML; Department of Respiratory Medicine, University Hospital of North Norway, Tromsø, Norway.
Arntzen KA; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway, 9038, Tromsø, Norway.; Department of Clinical Medicine, Faculty of Health Sciences, University of Tromsø-The Artic University of Norway, Tromsø, Norway.
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Źródło:
Journal of neurology [J Neurol] 2024 Jan; Vol. 271 (1), pp. 274-288. Date of Electronic Publication: 2023 Sep 11.
Typ publikacji:
Journal Article
MeSH Terms:
Sleep Initiation and Maintenance Disorders*/epidemiology
Sleep Apnea Syndromes*/epidemiology
Sleep Apnea Syndromes*/complications
Muscular Dystrophies, Limb-Girdle*/complications
Muscular Dystrophies, Limb-Girdle*/epidemiology
Adult ; Humans ; Cohort Studies ; Quality of Life ; Fatigue/complications ; Pentosyltransferases
Czasopismo naukowe
Tytuł:
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.
Autorzy:
Bolano-Diaz C; 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, NE13BZ, UK.
Verdú-Díaz J; 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, NE13BZ, UK.
Gonzalez-Chamorro A; 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, NE13BZ, UK.
Fitzsimmons S; 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, NE13BZ, UK.
Veeranki G; 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, NE13BZ, 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, NE13BZ, UK.
Diaz-Manera J; 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, NE13BZ, UK; Laboratori de Malalties Neuromusculars, Insitut de Recerca de l'Hospital de la Santa Creu i Sant Pau de Barcelona, Barcelona 08041, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid 28029, Spain. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 54-60. Date of Electronic Publication: 2023 Nov 10.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/diagnostic imaging
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Diseases*/diagnostic imaging
Muscular Diseases*/genetics
Humans ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Magnetic Resonance Imaging ; Dysferlin/genetics ; Pentosyltransferases ; Anoctamins
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
Tytuł:
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Autorzy:
Tiwari V; Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Guwahati 781101, Assam, India.
Alam MJ; Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Guwahati 781101, Assam, India; Cell Biology and Physiology Division, CSIR-Indian Institute of Chemical Biology, Kolkata, India.
Bhatia M; Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Guwahati 781101, Assam, India.
Navya M; Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Guwahati 781101, Assam, India.
Banerjee SK; Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Guwahati 781101, Assam, India. Electronic address: .
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Źródło:
Life sciences [Life Sci] 2024 Mar 15; Vol. 341, pp. 122489. Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cardiomyopathies*/genetics
Cardiomyopathies*/therapy
Muscular Dystrophies*/genetics
Muscular Dystrophies*/pathology
Humans ; Lamin Type A/genetics ; Lamin Type A/chemistry ; Lamin Type A/metabolism ; Mutation ; Polymers
Czasopismo naukowe
Tytuł:
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Autorzy:
Smeets H; Department of Toxicogenomics, Research Institutes MHeNS and GROW, Maastricht University, UNS40 Maastricht 6229ER, the Netherlands. Electronic address: .
Verbrugge B; LAMA2-MD Foundation 'Voor Sara', Dordrecht, the Netherlands.
Bulbena X; LAMA2-MD Foundation, ImpulsaT, Barcelona, Spain.
Hristova L; Maastricht University, Maastricht, the Netherlands.
Vogt J; Maastricht University, Maastricht, the Netherlands.
van Beckhoven I; Maastricht University, Maastricht, the Netherlands.
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Corporate Authors:
all participants
Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD
Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Mar; Vol. 36, pp. 16-22. Date of Electronic Publication: 2024 Jan 09.
Typ publikacji:
Clinical Conference
MeSH Terms:
Rare Diseases*/genetics
Rare Diseases*/therapy
Muscular Dystrophies*/genetics
Muscular Dystrophies*/therapy
Mice ; Animals ; Humans ; Spain ; Laminin/genetics ; Laminin/metabolism ; Europe
Konferencja
Tytuł:
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Autorzy:
Nashabat M; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Nabavizadeh N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Saraçoğlu HP; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Sarıbaş B; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Avcı Ş; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.
Börklü E; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.
Beillard E; Department of Biopathology, Centre Léon Bérard, Lyon, France.
Yılmaz E; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Uygur SE; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Kayhan CK; Pathology Laboratory, Acıbadem Maslak Hospital, Istanbul, Turkey.; Department of Biotechnology, Nişantaşı University, Istanbul, Turkey.
Bosco L; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Science, University 'Roma Tre', Rome, Italy.
Eren ZB; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Richter MF; Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.
Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.
Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.
Valentino ML; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Connolly AM; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA.
Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
Viola L; Unit of Clinical Pediatrics, State Hospital, San Marino Republic, Italy.
Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Rocha ME; CENTOGENE GmbH, Rostock, Germany.
Peart L; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Castro-Rojas DL; Genomics Laboratory, Center of Immunology and Genetics (CIGE), SURA Ayudas Diagnosticas, Medellín, Colombia.
Bültmann E; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
Khan S; CENTOGENE GmbH, Rostock, Germany.
Giarrana ML; Division of Sleep Medicine, University Children's Hospital Zurich, Zurich, Switzerland.
Teleanu RI; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Gonzalez JM; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Pini A; Neuromuscular Pediatric Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
Schädlich IS; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.
Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.
Brugger M; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.
Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Pinto A; CENTOGENE GmbH, Rostock, Germany.
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Bivona SA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Riza A; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania.
Streata I; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania.
Gläser D; Genetikum, Neu-Ulm, Germany.
Baquero-Montoya C; Pediatric department, Hospital Pablo Tobon Uribe, SURA Ayudas Diagnosticas, Medellín, Colombia.
Garcia-Restrepo N; Universidad de Manizales, Manizales, Caldas, Colombia.
Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Brunet T; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.
Epure DA; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.
Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany.
Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.
Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Zanni G; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Kayserili H; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.
Oflazer ZP; Department of Neurology, Koç University Hospital Muscle Center, Istanbul, Turkey.
Escande-Beillard N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey. .; Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine (KUSoM), Istanbul, Turkey. .
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Corporate Authors:
Undiagnosed Diseases Network
Źródło:
Nature communications [Nat Commun] 2024 Feb 27; Vol. 15 (1), pp. 1758. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies*/genetics
Muscular Dystrophies*/metabolism
Child ; Humans ; Ribonucleoproteins, Small Nuclear/metabolism ; RNA/metabolism ; RNA Splicing/genetics ; Spliceosomes/genetics ; Spliceosomes/metabolism
Czasopismo naukowe
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. .
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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
Czasopismo naukowe
Tytuł:
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.
Autorzy:
Bardakov SN; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia. .
Titova AA; Kazan (Volga Region) Federal University, 18 Kremlyevskaya str., Kazan, 420008, Russia.
Nikitin SS; Research Centre for Medical Genetics, 1 Moskvorechye str., Moscow, 115522, Russia.
Nikitins V; North-Western State Medical University named after I.I. Mechnikov, 47 Piskarevskij prospect, St. Petersburg, 191015, Russia.
Sokolova MO; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia.
Tsargush VA; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia.
Yuhno EA; FSBI All-Russian Center for Emergency and Radiation Medicine named after A.M. Nikiforov EMERCOM of Russia, 4/2 Lebedev str., St. Petersburg, 194044, Russia.
Vetrovoj OV; Pavlov Institute of Physiology, Russian Academy of Sciences, 6 Makarova emb, St. Petersburg, 199034, Russia.
Carlier PG; Neuromuscular Disease Reference Center, University of Liege, and Department of Neurology, St Luc University Hospital, Avenue Hippocrate 10, Brussels, 1200, Belgium.
Sofronova YV; Genetico, 3, Gubkina str., Bldg. 1, Moscow, 119333, Russia.
Isaev АА; Artgen Biotech PJSC, 3 Gubkina str., Moscow, 119333, Russia.
Deev RV; Avtsyn Research Institute of Human Morphology of Federal State Budgetary Scientific Institution 'Petrovsky National Research Centre of Surgery', 3 Tsyurupy str., Moscow, 117418, Russia.; Artgen Biotech PJSC, 3 Gubkina str., Moscow, 119333, Russia.
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Feb 16; Vol. 25 (1), pp. 146. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/complications
Muscular Dystrophies, Limb-Girdle*/diagnostic imaging
Muscular Dystrophies, Limb-Girdle*/genetics
Distal Myopathies*
Contracture*/etiology
Contracture*/genetics
Muscular Atrophy*
Humans ; Adolescent ; Young Adult ; Adult ; Membrane Proteins/genetics ; Muscle Proteins/genetics ; Mutation
SCR Disease Name:
Dysferlinopathy; Miyoshi myopathy
Czasopismo naukowe
Tytuł:
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Autorzy:
Aguti S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Salvatore S; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Rubegni A; Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Berti G; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Formichi P; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Malandrini A; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 16, 53100 Siena, Italy.
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Źródło:
Cells [Cells] 2024 Feb 10; Vol. 13 (4). Date of Electronic Publication: 2024 Feb 10.
Typ publikacji:
Journal Article
MeSH Terms:
Muscles*/pathology
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/pathology
Humans ; Mutation/genetics ; Heterozygote ; Biomarkers
Czasopismo naukowe
Tytuł:
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.
Autorzy:
Shi Y; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Cao C; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, Henan 471000, China.
Zeng Y; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Ding Y; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Chen L; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Zheng F; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Chen X; Department of Neurology, Zhangzhou Municipal Hospital of Fujian Province and Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, Fujian 363000, China.
Zhou F; Department of Neurology, Jian'ou Municipal Hospital of Fujian Province, Jian'ou, Fujian 353100, China.
Yang X; Department of Radiology, First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Li J; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Xu L; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Xu G; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Lin M; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.
Tsuji S; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba 286-0048, Japan.
Wang N; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China.
Wang Z; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China. Electronic address: .
Chen WJ; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China. Electronic address: .
Yang K; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Department of Neurology, National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350212, China. Electronic address: .
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Źródło:
Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2024 Feb; Vol. 51 (2), pp. 184-196. Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/genetics
Muscular Diseases*/pathology
Muscular Dystrophies*/genetics
Muscular Dystrophies*/pathology
Humans ; Muscle Weakness
SCR Disease Name:
Oculopharyngodistal Myopathy
Czasopismo naukowe
Tytuł:
Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.
Autorzy:
Mezzi N; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis El Manar University, 1002 Tunis Belvédère, Tunisia; Department of Biology, Faculty of Sciences of Bizerte, Carthage University, 7021 Jarzouna, Tunisia.
Zaouak A; Habib Thameur Hospital, Dermatology Department, 1008 Tunis, Tunisia.
Mkaouar R; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis El Manar University, 1002 Tunis Belvédère, Tunisia.
Kacem I; Department of Neurology, LR18SP03, Clinical Investigation Center of Neurosciences and Mental Health, Universitary Hospital Razi-Mannouba, Tunis, Tunisia.
Gouider R; Department of Neurology, LR18SP03, Clinical Investigation Center of Neurosciences and Mental Health, Universitary Hospital Razi-Mannouba, Tunis, Tunisia.
Fenniche S; Habib Thameur Hospital, Dermatology Department, 1008 Tunis, Tunisia.
Mrad R; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis El Manar University, 1002 Tunis Belvédère, Tunisia.
Romdhane L; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis El Manar University, 1002 Tunis Belvédère, Tunisia; Department of Biology, Faculty of Sciences of Bizerte, Carthage University, 7021 Jarzouna, Tunisia. Electronic address: .
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Źródło:
Gene [Gene] 2024 Mar 30; Vol. 900, pp. 148127. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Female ; Humans ; Adult ; Exome Sequencing ; Mutation ; Comorbidity
SCR Disease Name:
Limb-girdle muscular dystrophy type 2A
Czasopismo naukowe
Tytuł:
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.
Autorzy:
Columbres RCA; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA.; College of Osteopathic Medicine, William Carey University, Hattiesburg, MS, USA.
Din S; College of Osteopathic Medicine, William Carey University, Hattiesburg, MS, USA.
Gibbs L; Department of Radiology, University of California, Irvine, CA, USA.
Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA. .; Department of Pathology, University of California, Irvine, CA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 11; Vol. 14 (1), pp. 5917. Date of Electronic Publication: 2024 Mar 11.
Typ publikacji:
Journal Article
MeSH Terms:
Frontotemporal Dementia*/diagnostic imaging
Frontotemporal Dementia*/genetics
Osteitis Deformans*/diagnostic imaging
Osteitis Deformans*/genetics
Myositis, Inclusion Body*/diagnostic imaging
Myositis, Inclusion Body*/genetics
Muscular Dystrophies, Limb-Girdle*
Male ; Female ; Humans ; Valosin Containing Protein/genetics ; Cell Cycle Proteins/genetics ; Merozoite Surface Protein 1/genetics ; Tomography, X-Ray Computed ; Mutation
SCR Disease Name:
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Czasopismo naukowe
Tytuł:
Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy.
Autorzy:
Zabalegui F; Laboratorio de Investigación Aplicada a Neurociencias (LIAN), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Buenos Aires, Argentina.
Castañeda SL; Laboratorio de Investigación Aplicada a Neurociencias (LIAN), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Buenos Aires, Argentina.
Amin G; Laboratorio de Investigación Aplicada a Neurociencias (LIAN), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Buenos Aires, Argentina.
Belli C; Instituto de Medicina Experimental (IMEX-CONICET), Academia Nacional de Medicina, Buenos Aires, Argentina.
Miriuka SG; Laboratorio de Investigación Aplicada a Neurociencias (LIAN), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Buenos Aires, Argentina.
Moro LN; Laboratorio de Investigación Aplicada a Neurociencias (LIAN), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI), Instituto de Neurociencias (INEU), CONICET, Buenos Aires, Argentina. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2024 Mar; Vol. 75, pp. 103307. Date of Electronic Publication: 2024 Jan 10.
Typ publikacji:
Journal Article
MeSH Terms:
Induced Pluripotent Stem Cells*/metabolism
Muscular Dystrophies*
Humans ; Mutation, Missense ; Leukocytes, Mononuclear/metabolism ; Muscle Proteins/genetics ; Mutation ; Intracellular Signaling Peptides and Proteins/genetics ; LIM Domain Proteins/genetics
Czasopismo naukowe
Tytuł:
SEPN1 Related Myopathy Presenting as Chronic Respiratory Insufficiency.
Autorzy:
Rao SK; Division of Pediatric Intensive Care & Pulmonology, Department of Pediatrics, IMS, BHU, Varanasi, UP, India. .
Jhalaria G; Division of Pediatric Intensive Care & Pulmonology, Department of Pediatrics, IMS, BHU, Varanasi, UP, India.
Rambabu N; Division of Pediatric Intensive Care & Pulmonology, Department of Pediatrics, IMS, BHU, Varanasi, UP, India.
Yadav H; Division of Pediatric Intensive Care & Pulmonology, Department of Pediatrics, IMS, BHU, Varanasi, UP, India.
Sharma S; Division of Pediatric Intensive Care & Pulmonology, Department of Pediatrics, IMS, BHU, Varanasi, UP, India.
Saroj AK; Division of Pediatric Intensive Care & Pulmonology, Department of Pediatrics, IMS, BHU, Varanasi, UP, India.
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Źródło:
Indian journal of pediatrics [Indian J Pediatr] 2024 Mar; Vol. 91 (3), pp. 304. Date of Electronic Publication: 2023 Sep 23.
Typ publikacji:
Letter
MeSH Terms:
Respiratory Insufficiency*/diagnosis
Respiratory Insufficiency*/etiology
Muscular Dystrophies*
Muscular Diseases*/complications
Muscular Diseases*/diagnosis
Scoliosis*
Mallory Bodies/*pathology
Humans
SCR Disease Name:
Rigid spine syndrome
Opinia redakcyjna
Tytuł:
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Autorzy:
Chandrasekhar A; Illumina Inc, San Diego, California, USA.
Mroczkowski HJ; Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
Urraca N; Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
Gross A; Illumina Inc, San Diego, California, USA.
Bluske K; Illumina Inc, San Diego, California, USA.
Thorpe E; Illumina Inc, San Diego, California, USA.
Hagelstrom RT; Natera Inc, Austin, Texas, USA.
Schonberg SA; Quest Diagnostics, Chantilly, Virginia, USA.
Perry DL; Illumina Inc, San Diego, California, USA.
Taft RJ; Illumina Inc, San Diego, California, USA.
Kesari A; Illumina Inc, San Diego, California, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63462. Date of Electronic Publication: 2023 Nov 06.
Typ publikacji:
Case Reports
MeSH Terms:
Autism Spectrum Disorder*/genetics
Muscular Dystrophies*/genetics
Muscular Dystrophy, Duchenne*/genetics
Child, Preschool ; Female ; Humans ; Male ; Base Sequence ; Chromosome Inversion/genetics ; Dystrophin/genetics ; POU Domain Factors/genetics
Raport
Tytuł:
ABHD7-mediated depalmitoylation of lamin A promotes myoblast differentiation.
Autorzy:
Shen Y; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Zheng LL; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Fang CY; Department of Chemistry, Fudan University, Shanghai 200438, China.
Xu YY; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Wang C; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Li JT; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Lei MZ; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Yin M; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Lu HJ; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; NHC Key Laboratory of Glycoconjugates Research, Fudan University, Shanghai 200032, China; Department of Chemistry, Fudan University, Shanghai 200438, China. Electronic address: .
Lei QY; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China; State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200032, China; New Cornerstone Science Laboratory, Fudan University, Shanghai 200032, China. Electronic address: .
Qu J; Fudan University Shanghai Cancer Center & Institutes of Biomedical Sciences, Cancer Institutes, Key Laboratory of Breast Cancer in Shanghai, Shanghai Key Laboratory of Radiation Oncology, The Shanghai Key Laboratory of Medical Epigenetics, Shanghai Medical College, Fudan University, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. Electronic address: .
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Źródło:
Cell reports [Cell Rep] 2024 Feb 27; Vol. 43 (2), pp. 113720. Date of Electronic Publication: 2024 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Lamin Type A*/metabolism
Muscular Dystrophies*/genetics
Animals ; Mice ; Cell Differentiation ; Myoblasts/metabolism ; Protein Processing, Post-Translational
Czasopismo naukowe
Tytuł:
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
Autorzy:
Cenni V; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Sabatelli P; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Di Martino A; 1st Orthopedics and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Merlini L; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
Antoniel M; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Squarzoni S; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Neri S; Medicine and Rheumatology Unit, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Santi S; CNR-Institute of Molecular Genetics, via di Barbiano 1/10, 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Metti S; Department of Molecular Medicine, University of Padova, 35122 Padova, Italy.
Bonaldo P; Department of Molecular Medicine, University of Padova, 35122 Padova, Italy.
Faldini C; 1st Orthopedics and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy.
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Źródło:
Cells [Cells] 2024 Feb 22; Vol. 13 (5). Date of Electronic Publication: 2024 Feb 22.
Typ publikacji:
Journal Article
MeSH Terms:
Mechanotransduction, Cellular*
Collagen Type VI*/genetics
Muscular Dystrophies*
Sclerosis*
Humans ; Hedgehog Proteins/metabolism ; Tendons/metabolism ; Fibroblasts/metabolism
SCR Disease Name:
Scleroatonic muscular dystrophy
Czasopismo naukowe
Tytuł:
LMNA-related muscular dystrophy involving myoblast proliferation and apoptosis through the FOXO1/GADD45A pathway.
Autorzy:
Wu Y; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Zhu X; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Jiang W; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Li J; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Li H; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Zhang K; Department of Pathogenic Biology, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Yang Y; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Qu S; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Guan X; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Bai Y; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China.
Guo H; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China. Electronic address: .
Dai L; Department of Medical Genetics, College of Basic Medical Science, Army Medical University (Third Military Medical University), Chongqing 400038, China; Department of Gynecology and Obstetrics, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing 400038, China. Electronic address: .
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Źródło:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Feb; Vol. 1870 (2), pp. 166943. Date of Electronic Publication: 2023 Nov 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Laminopathies*/metabolism
Laminopathies*/pathology
Muscular Dystrophies*/pathology
Animals ; Mice ; Apoptosis/genetics ; Cell Proliferation ; Muscular Atrophy/pathology ; Myoblasts/metabolism
Czasopismo naukowe
Tytuł:
msp1, msp2, and glurp genotyping to differentiate Plasmodium falciparum recrudescence from reinfections during prevention of reestablishment phase, Sri Lanka, 2014-2019.
Autorzy:
Gunasekera KT; Anti Malaria Campaign, Ministry of Health, 555/5 Public Health Complex, Elvitigala Mawatha, Colombo 5, Sri Lanka. .
Premaratne RG; World Health Organization Regional Office for South-East Asia, New Delhi, India.
Handunnetti SM; Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, Colombo, Sri Lanka.
Weerasena J; Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo, Colombo, Sri Lanka.
Premawansa S; Department of Zoology and Environmental Science, University of Colombo, Colombo, Sri Lanka.
Fernando DS; Department of Parasitology, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
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Źródło:
Malaria journal [Malar J] 2024 Jan 27; Vol. 23 (1), pp. 35. Date of Electronic Publication: 2024 Jan 27.
Typ publikacji:
Journal Article
MeSH Terms:
Merozoite Surface Protein 1*/genetics
Malaria, Falciparum*/epidemiology
Malaria, Falciparum*/prevention & control
Malaria, Falciparum*/drug therapy
Osteitis Deformans*
Myositis, Inclusion Body*
Muscular Dystrophies, Limb-Girdle*
Frontotemporal Dementia*
Male ; Humans ; Plasmodium falciparum/genetics ; Reinfection ; Protozoan Proteins/genetics ; Protozoan Proteins/therapeutic use ; Antigens, Protozoan/genetics ; Antigens, Protozoan/therapeutic use ; Genotype ; Glutamic Acid ; Sri Lanka/epidemiology ; Genetic Variation ; Recurrence
SCR Disease Name:
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Czasopismo naukowe

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