| D008957 |
Models, Genetic |
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment. |
Genetic Models,Genetic Model,Model, Genetic |
|
| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
|
| 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 |
|
| D009841 |
Oligonucleotides |
Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed) |
Oligonucleotide |
|
| D000067879 |
CELF1 Protein |
A member of the CELF PROTEINS family which binds GU rich elements (GREs) and CUG-triplet repeats in the 3'UTR of mammalian mRNA transcripts that undergo rapid turnover. It also binds AU-rich elements (AREs or EDEN-like) in the 3'UTR of JUN and FOS mRNAs. Mutations in the human CELF1 gene are associated with MYOTONIC DYSTROPHY type 1. |
BRUNOL2 Protein,Bruno-Like 2 Protein,CUG Triplet Repeat, RNA-Binding Protein 1,CUGBP, Elav-Like Family Member 1 Protein,CUGBP1 Protein,2 Protein, Bruno-Like,Bruno Like 2 Protein,CUG Triplet Repeat, RNA Binding Protein 1,CUGBP, Elav Like Family Member 1 Protein,Protein, BRUNOL2,Protein, Bruno-Like 2,Protein, CELF1,Protein, CUGBP1 |
|
| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
|
| D000818 |
Animals |
Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. |
Animal,Metazoa,Animalia |
|
| 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 |
|
| D012326 |
RNA Splicing |
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. |
RNA, Messenger, Splicing,Splicing, RNA,RNA Splicings,Splicings, RNA |
|
| D016376 |
Oligonucleotides, Antisense |
Short fragments of DNA or RNA that are used to alter the function of target RNAs or DNAs to which they hybridize. |
Anti-Sense Oligonucleotide,Antisense Oligonucleotide,Antisense Oligonucleotides,Anti-Sense Oligonucleotides,Anti Sense Oligonucleotide,Anti Sense Oligonucleotides,Oligonucleotide, Anti-Sense,Oligonucleotide, Antisense,Oligonucleotides, Anti-Sense |
|
-transparent.png){kind=logo}
