| D009223 |
Myotonic Dystrophy |
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000073659 |
Gain of Function Mutation |
A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression. |
Activation Mutation,Activation Mutations,Mutation, Activation,Mutations, Activation |
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| D012313 |
RNA |
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) |
RNA, Non-Polyadenylated,Ribonucleic Acid,Gene Products, RNA,Non-Polyadenylated RNA,Acid, Ribonucleic,Non Polyadenylated RNA,RNA Gene Products,RNA, Non Polyadenylated |
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| D016875 |
tau Proteins |
Microtubule-associated proteins that are mainly expressed in neurons. Tau proteins constitute several isoforms and play an important role in the assembly of tubulin monomers into microtubules and in maintaining the cytoskeleton and axonal transport. Aggregation of specific sets of tau proteins in filamentous inclusions is the common feature of intraneuronal and glial fibrillar lesions (NEUROFIBRILLARY TANGLES; NEUROPIL THREADS) in numerous neurodegenerative disorders (ALZHEIMER DISEASE; TAUOPATHIES). |
tau Protein,Protein, tau,Proteins, tau |
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| D020033 |
Protein Isoforms |
Different forms of a protein that may be produced from different GENES, or from the same gene by ALTERNATIVE SPLICING. |
Isoform,Isoforms,Protein Isoform,Protein Splice Variant,Splice Variants, Protein,Protein Splice Variants,Isoform, Protein,Isoforms, Protein,Splice Variant, Protein,Variant, Protein Splice,Variants, Protein Splice |
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| D024801 |
Tauopathies |
Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration. |
Tauopathy |
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