Help Cure Muscular Dystrophy: Help Cure Muscular Dystrophy is a distributed computing project that runs on the BOINC platform. It is a joint effort of the French muscular dystrophy charity, L'Association française contre les myopathies;French Muscular Dystrophy Association and L'Institut de biologie moléculaire et cellulaire (Molecular and Cellular Biology Institute).Exon skipping: In molecular biology, exon skipping is a form of RNA splicing used to cause cells to “skip” over faulty or misaligned sections of genetic code, leading to a truncated but still functional protein despite the genetic mutation.Dystrophin: Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex.Dysferlinopathy: Dysferlinopathy is an autosomal recessive neuromuscular disorder caused by a deficiency of functional dysferlin protein due to mutations in the dysferlin gene. Dysferlinopathy is characterized by progressive muscle wasting and is most often clinically diagnosed as Limb-girdle muscular dystrophy type 2B (LGMD2B) or Miyoshi muscular dystrophy 1 (MMD1; a type of distal muscular dystrophy), depending on the initial pattern of muscle involvement at diagnosis.Myotonic dystrophyFacioscapulohumeral muscular dystrophyEmerin: Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with MAN1, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates.Utrophin: Utrophin is a protein that in humans is encoded by the UTRN gene.Dystroglycan: Dystroglycan is a protein that in humans is encoded by the DAG1 gene.Lattice corneal dystrophyMyokine: A myokine is one of several hundred cytokines or other small proteins (~5–20 kDa) and proteoglycan peptides that are produced and released by muscle cells (myocytes) in response to muscular contractions.Bente Klarlund Pedersen , Thorbjörn C.Oculopharyngeal muscular dystrophyX-linked endothelial corneal dystrophy: X-linked endothelial corneal dystrophy (XECD) is a rare form of corneal dystrophy described first in 2006, based on a 4-generation family of 60 members with 9 affected males and 35 trait carriers, which led to mapping the XECD locus to Xq25. It manifests as severe corneal opacification or clouding, sometimes congenital, in the form of a ground glass, milky corneal tissue, and moon crater-like changes of corneal endothelium.Dystrophin-associated protein: A dystrophin-associated protein is a protein that helps to form the connection between intracellular dystrophin and the extracellular basal lamina.SarcolemmaThymopoietin: Lamina-associated polypeptide 2 (LAP2), isoforms beta/gamma is a protein that in humans is encoded by the TMPO gene. LAP2 is an inner nuclear membrane (INM) protein.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Creatine kinaseBethlem myopathy: Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Protein turnover: Protein turnover is the balance between protein synthesis and protein degradation. More synthesis than breakdown indicates an anabolic state that builds lean tissues, more breakdown than synthesis indicates a catabolic state that burns lean tissues.Fields' disease: Fields' disease is considered to be one of the rarest known diseases in the world, with only two diagnosed cases in history. It is named after Welsh twins Catherine and Kirstie Fields.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Laminin: Laminins are high-molecular weight (~400kDa) proteins of the extracellular matrix. They are a major component of the basal lamina (one of the layers of the basement membrane), a protein network foundation for most cells and organs.Acquired non-inflammatory myopathy: Acquired non-inflammatory myopathy (ANIM) is a neurological disorder primarily affecting skeletal muscle, most commonly in the limbs of humans, resulting in a weakness or dysfunction in the muscle. A myopathy refers to a problem or abnormality with the myofibrils, which compose muscle tissue.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Methylsterol monooxygenase: Methylsterol monooxygenase (, methylsterol hydroxylase, 4-methylsterol oxidase, 4,4-dimethyl-5alpha-cholest-7-en-3beta-ol,hydrogen-donor:oxygen oxidoreductase (hydroxylating)) is an enzyme with system name 4,4-dimethyl-5alpha-cholest-7-en-3beta-ol,NAD(P)H:oxygen oxidoreductase (hydroxylating). This enzyme catalyses the following chemical reactionPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Diaphragmatic excursion: Diaphragmatic excursion is the movement of the thoracic diaphragm during breathing.Regeneration (biology): In biology, regeneration is the process of renewal, restoration, and growth that makes genomes, cells, organisms, and ecosystems resilient to natural fluctuations or events that cause disturbance or damage. Every species is capable of regeneration, from bacteria to humans.Neurodegeneration with brain iron accumulation: Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities.Pikachurin: Pikachurin, also known as AGRINL (AGRINL) and EGF-like, fibronectin type-III and laminin G-like domain-containing protein (EGFLAM), is a protein that in humans is encoded by the EGFLAM gene.OpsismodysplasiaCalpain: A:55-354; B:55-354; A:55-354; B:55-354; A:55-353; B:45-344; A:45-344; L:45-344; L:45-344; A:42-337DeflazacortMembrane protein: Membrane proteins are proteins that interact with biological membranes. They are one of the common types of protein along with soluble globular proteins, fibrous proteins, and disordered proteins.Coles PhillipsMyostatin: Myostatin (also known as growth differentiation factor 8, abbreviated GDF-8) is a myokine, a protein produced and released by myocytes that acts on muscle cells' autocrine function to inhibit myogenesis: muscle cell growth and differentiation. In humans it is encoded by the MSTN gene.Self-complementary adeno-associated virus (scAAV): Self-complementary adeno-associated virus (scAAV) is a viral vector engineered from the naturally occurring adeno-associated virus (AAV) to be used as a tool for gene therapy. Use of recombinant AAV (rAAV) has been successful in clinical trials addressing a variety of diseases.Morpholino: A morpholino, also known as a morpholino oligomer and as a phosphorodiamidate morpholino oligomer (PMO), is type of oligomer molecule (colloquially, an oligo) used in molecular biology to modify gene expression. The molecular structure has a backbone of methylenemorpholine rings and phosphorodiamidate linkages.Exercise therapy for idiopathic inflammatory myopathies: Although they vary in particulars, polymyositis, dermatomyositis and inclusion body myositis are idiopathic inflammatory myopathies (IIM)primarily characterized by chronic inflammation] of human [[skeletal muscle tissueLundberg I. and Y-L Chung, 2000.Prenatal diagnosis: Prenatal diagnosis or prenatal screening (note that prenatal diagnosis and prenatal screening refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.Chromosome regionsNational Society of Film Critics Awards 1977: 12th NSFC AwardsCousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Titin: Titin , also known as connectin, is a protein that, in humans, is encoded by the TTN gene. Titin is a giant protein, greater than 1 µm in length, that functions as a molecular spring which is responsible for the passive elasticity of muscle.PhentolamineCardiomyopathySymmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Thermal cyclerBrain biopsyJohn Evans (actor): John Evans (1693?–1734?Hyperglycerolemia: Hyperglycerolemia, also known as Glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides and glycerophospholipids in the body.Iridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Deletion (genetics)Lamin: Nuclear lamins, also known as Class V intermediate filaments, are fibrous proteins providing structural function and transcriptional regulation in the cell nucleus. Nuclear lamins interact with membrane-associated proteins to form the nuclear lamina on the interior of the nuclear envelope.Muscle contraction: Muscle contraction is the activation of tension-generating sites within muscle fibers. In physiology, muscle contraction does not mean muscle shortening because muscle tension can be produced without changes in muscle length such as holding a heavy book or a dumbbell at the same position.Frameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.Nonsense mutation: In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. It differs from a missense mutation, which is a point mutation where a single nucleotide is changed to cause substitution of a different amino acid.Scoliosis Research SocietyHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.
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