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Autophagy, ISSN 1554-8627, 01/2015, Volume 11, Issue 1, pp. 113 - 130
P2RX7 is an ATP-gated ion channel, which can also exhibit an open state with a considerably wider permeation. However, the functional significance of the... 
mdx | EtBr, ethidium bromide | double-mutant mouse model | BzATP, 2′(3′)-O-(4-benzoylbenzoyl)adenosine 5′-triphosphate | C57BL/10ScSn-Dmd | LP, large pore, P2RX7-dependent | | J mouse model of DMD | LY, Lucifer Yellow | DMD | eATP, extracellular ATP | HSPA2/HSP70, heat shock protein 2 | LC3 | Wt, C57BL/10ScSn wild-type mouse | HSP90 | autophagy | HSP70 | cell death | ACTB, actin, β | PtdIns3K, phosphatidylinositol 3-kinase, class III | MAP1LC3B/LC3, microtubule-associated protein 1 light chain 3 β | LDH, lactate dehydrogenase | purinoceptors | P2RX7, purinergic receptor P2X, ligand-gated ion channel, 7 | BECN1, Beclin 1, autophagy-related | P2RX7 | HSP90, heat shock protein 90 | 3-MA, 3-methyladenine | DMD, Duchenne muscular dystrophy | CASP, caspase | DAPC, dystrophin associated protein complex | ATP | MAPK, mitogen-activated protein kinase | GA, geldanamycin | Cell death | Purinoceptors | Autophagy | EXTRACELLULAR ATP | ACTIVATION | PROTEIN | MEDIATED AUTOPHAGY | MUSCULAR-DYSTROPHY | CELL BIOLOGY | P2X7 RECEPTOR | SKELETAL-MUSCLE | P2X RECEPTORS | MOUSE MODEL | MOLECULAR-MECHANISMS | Calcium Channels - metabolism | Apoptosis - drug effects | Microtubule-Associated Proteins - metabolism | Male | Muscle, Skeletal - metabolism | Phosphoproteins - metabolism | Muscular Dystrophy, Animal - pathology | Autophagy - drug effects | Adenosine Triphosphate - pharmacology | Myoblasts - drug effects | Myoblasts - metabolism | Muscle, Skeletal - drug effects | Mice, Inbred mdx | Muscular Dystrophy, Animal - metabolism | Female | Mice, Inbred C57BL | Enzyme Activation - drug effects | Myoblasts - pathology | HSP70 Heat-Shock Proteins - metabolism | Macrophages - metabolism | Animals | Signal Transduction - drug effects | Models, Biological | HSP90 Heat-Shock Proteins - metabolism | Receptors, Purinergic P2X7 - metabolism | Muscle, Skeletal - pathology | Proteome - metabolism
Journal Article
Molecular Cell, ISSN 1097-2765, 04/2017, Volume 66, Issue 1, pp. 22 - 37.e9
Journal Article
Revue Neurologique, ISSN 0035-3787, 04/2018, Volume 174, pp. S43 - S43
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 5, pp. 447 - 451
Journal Article
Optics Express, ISSN 1094-4087, 07/2018, Volume 26, Issue 14, pp. 18597 - 18607
Illumination uniformity in photolithography systems determines the dimensional difference across the entire lithographic substrate. However, traditional... 
ELEMENTS | DMD | FABRICATION | OPTICS | MASKLESS LITHOGRAPHY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
Noninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or... 
maternal CNV | NIPS | secondary findings | DMD gene
Journal Article
Deleciones en el gen de la distrofina en 62 familias colombianas: correlación genotipofenotipo para la distrofia muscular de Duchenne y Becker, 2004
Journal
Molecular Therapy, ISSN 1525-0016, 11/2017, Volume 25, Issue 11, pp. 2561 - 2572
Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder, is caused by mutations in the ( ) gene. Exon skipping is a therapeutic approach... 
mdx52 mice | Becker muscular dystrophy | Exondys 51 | eteplirsen | exon skipping | Duchenne muscular dystrophy | clinical trial candidate screening | BMD | antisense morpholino | drisapersen | machine learning | hDMD/Dmd-null mice | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | DESIGN | EFFICACY | DMD GENE | RESTORATION | PHASE-2 | OLIGONUCLEOTIDES | THERAPY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MICE | ETEPLIRSEN | Exons | Humans | Oligonucleotides, Antisense - metabolism | Male | Muscle, Skeletal - metabolism | Reading Frames | Recovery of Function | RNA Splicing | Female | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Disease Models, Animal | Gene Expression | Morpholinos - genetics | Mice, Transgenic | Muscular Dystrophy, Duchenne - pathology | Morpholinos - metabolism | Animals | Oligonucleotides, Antisense - genetics | Dystrophin - genetics | Mice | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Mutation | Genetic Therapy - methods | Performance evaluation | Medical research | Statistical analysis | Splicing | Antisense oligonucleotides | Muscular dystrophy | Proteins | Musculoskeletal system | Protein folding | Efficiency | Exon skipping | Duchenne's muscular dystrophy | Protein expression | Muscle function | Dystrophy | Dystrophin | Evacuations & rescues | hDMD | Dmd-null mice | Original
Journal Article
Journal of personalized medicine, ISSN 2075-4426, 03/2019, Volume 9, Issue 1, p. 16
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscle disorders caused by mutations of the gene, which encodes the subsarcolemmal protein... 
exon skipping therapy | Duchenne/Becker muscular dystrophy (DMD/BMD) | antisense oligonucleotide | DMD gene | readthrough therapy | DMD model animal | gene therapy | dystrophin | molecular diagnosis
Journal Article
Machine Vision and Applications, ISSN 0932-8092, 05/2017, Volume 28, Issue 3-4, pp. 393 - 407
Journal Article
Muscle and Nerve, ISSN 0148-639X, 02/2009, Volume 39, Issue 2, pp. 239 - 243
Journal Article
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 10/2019, Volume 405, p. 116425
Formation of protein aggregation is considered a hallmark feature of various neurological diseases. Amyotrophic lateral sclerosis is one such devastating... 
ALS | DMD | Mutation | Peptides | FEL | SOD1
Journal Article
ARCHIVES DE PEDIATRIE, ISSN 0929-693X, 09/2015, Volume 22, pp. S9 - S10
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014
Abstract Objectives To describe sleep disordered breathing (SDB) in young boys with DMD, and its relationship with pulmonary function tests (PFT ). Study... 
Pediatrics
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2008, Volume 18, Issue 11, pp. 894 - 903
Full title: Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome... 
Outcome measures | TREAT-NMD | DMD | Harmonisation | SMA
Journal Article
Cell and Tissue Research, ISSN 0302-766X, 7/2013, Volume 353, Issue 1, pp. 173 - 187
The renin-angiotensin system (RAS), through angiotensin II and the angiotensin-converting enzyme (ACE), is involved in the genesis and progression of fibrotic... 
Human Genetics | Biomedicine | Mouse ( mdx model of DMD) | Proteomics | Fibrosis | Extracellular matrix | Duchenne muscular dystrophy (DMD) | Molecular Medicine | Angiotensin-converting enzyme | Skeletal muscle | Mouse (mdx model of DMD) | SYSTEM | OXIDATIVE STRESS | ACTIVATION | TGF-BETA | REGENERATION | FACTOR-I | MDX MICE | EXERCISE | DEGENERATION | CELL BIOLOGY | ACCUMULATION | Antihypertensive Agents - pharmacology | Transforming Growth Factor beta1 - metabolism | Male | Angiotensin II Type 1 Receptor Blockers - pharmacology | Connective Tissue Growth Factor - biosynthesis | Renin-Angiotensin System | Mice, Inbred mdx | Muscular Dystrophy, Animal - metabolism | Peptidyl-Dipeptidase A - metabolism | Adenoviridae - genetics | Transforming Growth Factor beta1 - drug effects | Angiotensin-Converting Enzyme Inhibitors - pharmacology | Physical Conditioning, Animal | Transforming Growth Factor beta1 - biosynthesis | Muscle, Skeletal - enzymology | Angiotensin II - metabolism | Mice, Inbred C57BL | Adenoviridae Infections | Animals | Enalapril - pharmacology | Signal Transduction - drug effects | Mice | Muscle Strength - drug effects | Muscle, Skeletal - pathology | Connective Tissue Growth Factor - metabolism | Enzymes | Angiotensin | Muscles | Bone morphogenetic proteins | Transforming growth factors | ACE inhibitors | Angiogenesis | Biomedical research | Muscular system | Muscular dystrophy
Journal Article