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Pontocerebellar Hypoplasia
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH. Signs and symptoms There are different signs and symptoms for different forms of pontocerebellar hypoplasia, at least six of which have been described by researchers. All forms involve abnormal development of the brain, leading to slow development, movement problems, and intellectual impairment. The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2-ketoglutaric acid, adipic acid, and suberic acid which seems to support the thesis that CASK affects mitochondrial function. Causes Pontocerebellar hypoplasia is caused by mutations in genes including VRK1 (PCH1); TSEN2, TSEN3 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegeneration
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities suggest that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain Hemisphere
The vertebrate cerebrum (brain) is formed by two cerebral hemispheres that are separated by a groove, the longitudinal fissure. The brain can thus be described as being divided into left and right cerebral hemispheres. Each of these hemispheres has an outer layer of grey matter, the cerebral cortex, that is supported by an inner layer of white matter. In eutherian (placental) mammals, the hemispheres are linked by the corpus callosum, a very large bundle of nerve fibers. Smaller commissures, including the anterior commissure, the posterior commissure and the fornix, also join the hemispheres and these are also present in other vertebrates. These commissures transfer information between the two hemispheres to coordinate localized functions. There are three known poles of the cerebral hemispheres: the ''occipital pole'', the ''frontal pole'', and the ''temporal pole''. The central sulcus is a prominent fissure which separates the parietal lobe from the frontal lobe and the primar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TSEN54
TRNA splicing endonuclease subunit 54 is a protein that in humans is encoded by the TSEN54 gene. Function This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Clinical significance Mutations in this gene result in pontocerebellar hypoplasia Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the ... type 2. Sepahvand et al. declared that due to the greatly overlapped phenotypes with well‐described types of PCH, e.g. PCH2, PCH4, and PCH5, "TSENopathies" term should be used which encompasses all described phenotypes of PCHs. They also reported an infratentorial chronic subdural hematoma was detected next to the Galen vein that had been develope ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RARS2
RARS is an acronym for Robot Auto Racing Simulator. It is an open source 3D racing simulator. RARS is designed to enabled pre-programmed AI drivers to race against one another. RARS was used as the base for TORCS. It was used as an example in the book ''Intelligent Information Processing and Web Mining'' by Mieczysław Kłopotek. It was a monthly on-going challenge for practitioners of Artificial Intelligence and real-time adaptive optimal control. It consists of * a simulation of the physics of cars racing on a track, * a graphic display of the race, * and a separate control program (robot "driver") for each car. Each participant could submit a robot (a file written in C++) which controlled the car and competed to win the race. * The input was the road and cars in front of it. * The output was the driver wheel and driver accelerator position. RARS was downloaded from its main repository on SourceForge.net between 2000 and May 2017 almost 100,000 times. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TSEN34
tRNA-splicing endonuclease subunit Sen34 is an enzyme that in humans is encoded by the ''TSEN34'' gene. tRNA splicing is a fundamental process required for cell growth and division. SEN34 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004). upplied by OMIMref name="entrez"/> Interactions TSEN34 has been shown to interact with TSEN2 tRNA-splicing endonuclease subunit Sen2 is an enzyme that in humans is encoded by the ''TSEN2'' gene. tRNA splicing is a fundamental process required for cell growth and division. SEN2 is a subunit of the tRNA splicing endonuclease, which catalyz .... References Further reading * * * * * * {{refend External links GeneReviews/NCBI/NIH/UW entry on Pontocerebellar Hypoplasia Type 2 and Type 4 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TSEN2
tRNA-splicing endonuclease subunit Sen2 is an enzyme that in humans is encoded by the ''TSEN2'' gene. tRNA splicing is a fundamental process required for cell growth and division. SEN2 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004). upplied by OMIMref name="entrez"/> Interactions TSEN2 has been shown to interact with TSEN34 tRNA-splicing endonuclease subunit Sen34 is an enzyme that in humans is encoded by the ''TSEN34'' gene. tRNA splicing is a fundamental process required for cell growth and division. SEN34 is a subunit of the tRNA splicing endonuclease, which cata ... and TSEN15. References External links GeneReviews/NCBI/NIH/UW entry on Pontocerebellar Hypoplasia Type 2 and Type 4 Further reading * * * * * * * {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
VRK1
Serine/threonine-protein kinase VRK1 is an enzyme that in humans is encoded by the ''VRK1'' gene. This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, ''in vitro'', to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and C-jun Transcription factor Jun is a protein that in humans is encoded by the ''JUN'' gene. c-Jun, in combination with protein c-Fos, forms the AP-1 early response transcription factor. It was first identified ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Suberic Acid
Suberic acid, also octanedioic acid, is a dicarboxylic acid, with formula C8H14O4. It is a colorless crystalline solid used in drug syntheses and plastics manufacture. Its name is derived from the Latin word ''suber'' which means cork Cork or CORK may refer to: Materials * Cork (material), an impermeable buoyant plant product ** Cork (plug), a cylindrical or conical object used to seal a container ***Wine cork Places Ireland * Cork (city) ** Metropolitan Cork, also known as G .... References Dicarboxylic acids {{organic-compound-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adipic Acid
Adipic acid or hexanedioic acid is the organic compound with the formula (CH2)4(COOH)2. From an industrial perspective, it is the most important dicarboxylic acid: about 2.5 billion kilograms of this white crystalline powder are produced annually, mainly as a precursor for the production of nylon. Adipic acid otherwise rarely occurs in nature, but it is known as manufactured E number food additive E355. Preparation and reactivity Adipic acid is produced from a mixture of cyclohexanone and cyclohexanol called KA oil, the abbreviation of ketone-alcohol oil. The KA oil is oxidized with nitric acid to give adipic acid, via a multistep pathway. Early in the reaction, the cyclohexanol is converted to the ketone, releasing nitrous acid: :HOC6H11 + HNO3 → OC(CH2)5 + HNO2 + H2O Among its many reactions, the cyclohexanone is nitrosated, setting the stage for the scission of the C-C bond: :HNO2 + HNO3 → NO+NO3− + H2O :OC6H10 + NO+ → OC6H9-2-NO + H+ Side products of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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