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Longer titles found: Dystrophin-associated protein (view), Dystrophin-associated protein complex (view), Dystrophinopathy (view)

searching for Dystrophin 59 found (409 total)

alternate case: dystrophin

Derek Blake (503 words) [view diff] exact match in snippet view article find links to article

muscular dystrophies (CMD). This led to the discovery of components of the dystrophin protein complex in neurons and identified new genes and pathways that

Viltolarsen (900 words) [view diff] exact match in snippet view article find links to article

is caused by mutations in the DMD gene that results in an absence of dystrophin, a protein that helps keep muscle cells intact. The first symptoms are

Human artificial chromosome (1,264 words) [view diff] exact match in snippet view article find links to article

mitotically stable, and correctly expressed dystrophin in chimeric mice. Previous attempts at correctly expressing dystrophin have failed. Due to its large size

PGM5 (380 words) [view diff] exact match in snippet view article find links to article

Belkin AM, Spurr NK, Koteliansky VE, Critchley DR (Jul 1996). "A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the

Allelic heterogeneity (463 words) [view diff] exact match in snippet view article find links to article

diseases displaying allelic heterogeneity are allelic mutations in the dystrophin gene which cause Duchenne dystrophy and mutations in the CFTR gene that

MACF1 (2,147 words) [view diff] exact match in snippet view article find links to article

of Drosophila kakapo with a close structural similarity to plectin and dystrophin". Biochem Biophys Res Commun. 264 (2): 568–74. doi:10.1006/bbrc.1999.1538

Antisense therapy (2,212 words) [view diff] exact match in snippet view article find links to article

the treatment of cases that can benefit from skipping exon 51 of the dystrophin transcript. In December 2019, golodirsen (Vyondys 53) received FDA approval

Steve Wilton (1,837 words) [view diff] exact match in snippet view article find links to article

that have received approval from the US FDA for restoring functional dystrophin expression in the most common mutations associated with DMD. His research

Anne McArdle (137 words) [view diff] exact match in snippet view article find links to article

OCLC 922032986. McArdle, Anne. (1993). Mechanisms skeletal muscle damage in the dystrophin-deficient MDX mouse (PhD thesis). University of Liverpool. OCLC 53496566

Delandistrogene moxeparvovec (486 words) [view diff] exact match in snippet view article find links to article

gene that leads to production of Elevidys micro-dystrophin that contains selected domains of the dystrophin protein present in normal muscle cells. It is

GlaxoSmithKline Prize (135 words) [view diff] exact match in snippet view article find links to article

muscular dystrophy as being the absence of a previously unknown protein, dystrophin" — 1990 Philippa Marrack and John Kappler "in recognition of their seminal

Phosphodiesterase (1,660 words) [view diff] exact match in snippet view article find links to article

cardiomyocyte-specific cGMP signaling prevent cardiomyopathic changes associated with dystrophin deficiency". Proceedings of the National Academy of Sciences of the United

Webtag (585 words) [view diff] exact match in snippet view article find links to article

Maire; Sophie Gautron; Axel Kahn (1988-06-30). "Transcription of the dystrophin gene in human muscle and non-muscle tissues". Nature. 333 (6176): 858–860

Cure Rare Disease (730 words) [view diff] exact match in snippet view article find links to article

Duchenne muscular dystrophy to treat the patients with mutations on the dystrophin gene encompassing exon 51, 53, and 45. However, people with DMD have mutations

Harald Jockusch (1,026 words) [view diff] exact match in snippet view article find links to article

analyses of the consequence of the deficiencies in the cytoskeletal proteins dystrophin (the protein deficient in Duchenne muscular dystrophy) and desmin in isolated

Morpholino (4,376 words) [view diff] exact match in snippet view article find links to article

PL, Rasko JE, Ryan M, Fletcher S, Wilton SD (October 2006). "Induced dystrophin exon skipping in human muscle explants". Neuromuscular Disorders. 16 (9–10):

SUCLG1 (940 words) [view diff] exact match in snippet view article find links to article

Morris GE (Apr 1997). "The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin". Biochimica et Biophysica Acta (BBA) - Molecular

DCTN4 (346 words) [view diff] exact match in snippet view article find links to article

(December 2008). "An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan". Cell. 135 (7): 1189–200. doi:10.1016/j.cell.2008.10

YAP1 (3,433 words) [view diff] exact match in snippet view article find links to article

Bork P, Sudol M (December 1994). "The WW domain: a signalling site in dystrophin?". Trends in Biochemical Sciences. 19 (12): 531–3. doi:10.1016/0968-0004(94)90053-1

PRX (gene) (798 words) [view diff] exact match in snippet view article

Gillespie CS, Brophy PJ (2001). "Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy". Neuron. 30 (3):

SCN1A (2,607 words) [view diff] exact match in snippet view article find links to article

brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". The Journal of Neuroscience. 18 (1): 128–37. doi:10

Caveolin 3 (2,508 words) [view diff] exact match in snippet view article find links to article

structural molecule activity Cellular component cytoplasm membrane T-tubule dystrophin-associated glycoprotein complex cell surface Z disc endoplasmic reticulum

Caveolin 3 (2,508 words) [view diff] exact match in snippet view article find links to article

structural molecule activity Cellular component cytoplasm membrane T-tubule dystrophin-associated glycoprotein complex cell surface Z disc endoplasmic reticulum

Stanley Froehner (308 words) [view diff] exact match in snippet view article find links to article

brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins. Stephen H. Gee, Raghavan Madhavan, S. Rock Levinson

DPYSL2 (965 words) [view diff] exact match in snippet view article find links to article

TC, Kendall E, et al. (1996). "Characterization of DRP2, a novel human dystrophin homologue". Nat. Genet. 13 (2): 223–6. doi:10.1038/ng0696-223. PMID 8640231

Idebenone (1,513 words) [view diff] exact match in snippet view article find links to article

"Long-term blinded placebo-controlled study of SNT-MC17/idebenone in the dystrophin deficient mdx mouse: cardiac protection and improved exercise performance"

List of A1 genes, proteins or receptors (667 words) [view diff] exact match in snippet view article find links to article

alpha 1 Cyclin A1 Cytochrome P450, family 1, member A1 Defensin, alpha 1 Dystrophin-associated protein A1 Ephrin A1 Eukaryotic translation elongation factor

Single-molecule experiment (2,203 words) [view diff] exact match in snippet view article find links to article

single-molecule imaging identifies altered dynamics of calcium channels in dystrophin-mutant C. elegans". Nature Communications. 5: ncomms5974. Bibcode:2014NatCo

RAPSN (1,473 words) [view diff] exact match in snippet view article find links to article

function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex". Neuron. 15 (1): 115–126. doi:10

Lee Sweeney (876 words) [view diff] exact match in snippet view article find links to article

Leland, SE; Sweeney, HL (August 1999). "Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice". The Journal of Clinical Investigation

CRISPR gene editing (17,439 words) [view diff] exact match in snippet view article find links to article

muscular dystrophy, the mutation responsible for the disease occurs in the dystrophin gene. CRISPR has been used to correct for this. Similarly, for Dravet

Hippo signaling pathway (3,130 words) [view diff] exact match in snippet view article find links to article

motif present in single or multiple copies in various proteins including dystrophin and the SH3-binding Yes-associated protein YAP65". Biochemical and Biophysical

Ultra-conserved element (4,384 words) [view diff] exact match in snippet view article find links to article

et al. (January 2004). "DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients". Human Mutation

TAZ zinc finger (508 words) [view diff] exact match in snippet view article find links to article

Winder SJ (January 1996). "ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins". Trends Biochem. Sci. 21 (1): 11–13. doi:10

Human genome (10,151 words) [view diff] exact match in snippet view article find links to article

conditions Cystic fibrosis 1:2500 CFTR Duchenne muscular dystrophy 1:3500 boys Dystrophin Becker muscular dystrophy 1.5–6:100000 males DMD Beta thalassemia 1:100000

Ischemia-reperfusion injury of the appendicular musculoskeletal system (1,486 words) [view diff] exact match in snippet view article find links to article

Straino, S.; et al. (2004). "Enhanced arteriogenesis and wound repair in dystrophin-deficient mdx mice". Circulation. 110 (21): 3341–3348. doi:10.1161/01

Meganuclease (2,295 words) [view diff] exact match in snippet view article find links to article

(2010-07-01). "Meganucleases can restore the reading frame of a mutated dystrophin". Gene Therapy. 17 (7): 846–858. doi:10.1038/gt.2010.26. ISSN 1476-5462

PGM1 (2,064 words) [view diff] exact match in snippet view article find links to article

Belkin AM, Spurr NK, Koteliansky VE, Critchley DR (Jan 1996). "A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the

NcRNA therapy (5,353 words) [view diff] exact match in snippet view article find links to article

approved by FDA in 2016 but not by EMA. It targets pre-mRNA corresponding to Dystrophin (DMD) and works against Duchenne muscular dystrophy. There are many additional

Eukaryotic translation termination factor 1 (5,515 words) [view diff] exact match in snippet view article find links to article

received extensive research are the CFTR, which causes cystic fibrosis, and dystrophin mutations, which causes Duchenne muscular dystrophy. Recent therapeutic

C10orf35 (504 words) [view diff] exact match in snippet view article find links to article

LPAR1 Lysophosphatidic acid receptor 1 SGCD Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) ZACN Zinc activated ligand-gated ion channel

Cell-penetrating peptide (7,320 words) [view diff] exact match in snippet view article find links to article

J, et al. (September 2008). "Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer"

Mesoangioblast (1,916 words) [view diff] exact match in snippet view article find links to article

into dystrophic muscle fibers and provide reparative proteins such as dystrophin that replace the affected cells. In a 2006 study, mesoangioblast transplantation

SYNE2 (1,178 words) [view diff] exact match in snippet view article find links to article

PMID 10231032. Apel ED, Lewis RM, Grady RM, Sanes JR (Nov 2000). "Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the

Early human migrations (11,832 words) [view diff] exact match in snippet view article find links to article

substantial Neanderthal admixture. The Neanderthal-linked haplotype B006 of the dystrophin gene has also been found among nomadic pastoralist groups in the Sahel

U7 small nuclear RNA (3,628 words) [view diff] exact match in snippet view article find links to article

Schümperli D, Weis J (2003). "U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping". Cell Mol Life Sci. 60 (3): 557–566. doi:10

RNA editing (7,435 words) [view diff] exact match in snippet view article find links to article

oligonucleotides complementary to a pre-mature stop codon mutation in a dystrophin sequence to activate A-to-I editing of the stop codon to a read through

Osteopontin (8,315 words) [view diff] exact match in snippet view article find links to article

inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice". Human Molecular Genetics. 11 (3): 263–272. doi:10

Human genetic variation (11,019 words) [view diff] exact match in snippet view article find links to article

Moisan JP, Michalski R, Labuda D (November 2003). "Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity". American

Croonian Medal (8,939 words) [view diff] exact match in snippet view article find links to article

prenatal test for Duchenne muscular dystrophy and her work on characterising dystrophin related proteins 2018 Jennifer Doudna, Re-writing the Code of Life: CRISPR

Oncogenomics (7,684 words) [view diff] exact match in snippet view article find links to article

(January 2007). "Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma". Cell Cycle. 6 (2): 189–98. doi:10.4161/cc

Olga Ornatsky (2,055 words) [view diff] exact match in snippet view article find links to article

and Transcriptional Activity in Muscle and Non-muscle Cells Feb 1996 Dystrophin, vinculin, and aciculin in skeletal muscle subject to chronic use and

Shapiro–Senapathy algorithm (6,804 words) [view diff] exact match in snippet view article find links to article

(2015-04-02). "Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA". Journal of Human Genetics. 60 (6): 327–333. doi:10.1038/jhg.2015

Helen Blau (2,710 words) [view diff] exact match in snippet view article find links to article

regeneration. Blau showed that telomere dysfunction in conjunction with dystrophin deficiency plays a central role in the skeletal muscle wasting and fatal

Circular RNA (6,557 words) [view diff] exact match in snippet view article find links to article

P450 genes, the rat androgen binding protein gene (Shbg), and the human dystrophin gene were also discovered. In 2012, in an effort to initially identify

Vectorette PCR (2,655 words) [view diff] exact match in snippet view article find links to article

1992). "Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR". Genomics. 13 (4): 942–950. doi:10.1016/0888-7543(92)90005-D

No-SCAR genome editing (5,650 words) [view diff] exact match in snippet view article find links to article

(2015-01-01). "Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy". Nature Communications

Muse cell (8,811 words) [view diff] exact match in snippet view article find links to article

albumin- and human anti-trypsin-expressing hepatocytes in the liver, human dystrophin-expressing cells in the muscle, neurofilament and MAP-2-expressing neuronal

Infections associated with diseases (5,362 words) [view diff] exact match in snippet view article find links to article

"Active Coxsackieviral B Infection Is Associated With Disruption of Dystrophin in Endomyocardial Tissue of Patients Who Died Suddenly of Acute Myocardial