|
Machado–Joseph Disease
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia,Paulson, H. (8 March 2011). Spinocerebellar Ataxia Type 3. In R. A. Pagon, T. D. Bird, C. R. Dolan, & K. Stephens (Eds.), GeneReviews. Seattle, WA: University of Washington. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1196/ which results in a lack of muscle control and coordination of the upper and lower extremities. The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" trinucleotide repeats in the ATXN3 gene that results in an abnormal form of the protein ataxin which causes degeneration of cells in the hindbrain. Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness or Parkinson's disease. Machado–Joseph disease is a type of spin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Azores
) , motto= ( en, "Rather die free than subjected in peace") , anthem=( en, "Anthem of the Azores") , image_map=Locator_map_of_Azores_in_EU.svg , map_alt=Location of the Azores within the European Union , map_caption=Location of the Azores within the European Union , coordinates = , subdivision_type = Country , subdivision_name = , established_title=Settlement , established_date=1432 , established_title3=Autonomous status , established_date3=30 April 1976 , official_languages= Portuguese , demonym= ( en, Azorean) , capital_type=Capitals , capital = Ponta Delgada (executive) Angra do Heroísmo (judicial)Horta (legislative) , largest_city = Ponta Delgada , government_type= Autonomous Region , leader_title1=Representative of the Republic , leader_name1=Pedro Manuel dos Reis Alves Catarino , leader_title2= President of the Legislative Assembly , leader_name2= Luís Garcia , leader_title3= President of the Regional Government , le ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxin-3
Ataxin-3 is a protein that in humans is encoded by the ''ATXN3'' gene. Clinical significance Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ''ATXN3'' gene contains CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado–Joseph disease. This disorder is thus a trinucleotide repeat disorder type I known as a polyglutamine (PolyQ) disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Interactions Ataxin 3 has been shown to interact with: * RAD23A, * RAD23B, and * VCP. Model organisms Model organisms have been used in the study of ATXN3 function. A conditional knockout mouse line called ''Atxn3tm1a(KOMP)Wtsi'' was generated at the Wellcome Trust Sanger Institute. Male and femal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CAG Repeats
Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides ( trinucleotide repeats) increase in copy numbers until they cross a threshold above which they become unstable. Depending on its location, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; produce a toxic RNA, or lead to chromosome instability. In general, the larger the expansion the faster the onset of disease, and the more severe the disease becomes. Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes. The first trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to 4000 CGG repeats in the gene that causes fragi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence in RNA transcripts. In RNA splicing, introns are removed and exons are covalently joined to one another as part of generating the mature RNA. Just as the entire set of genes for a species constitutes the genome, the entire set of exons constitutes the exome. History The term ''exon'' derives from the expressed region and was coined by American biochemist Walter Gilbert in 1978: "The notion of the cistron… must be replaced by that of a transcription unit containing regions which will be lost from the mature messengerwhich I suggest we call introns (for intragenic regions)alternating with regions which will be expressedexons." This definition was originally made for protein-coding transcripts that are spliced before being translated. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 14
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells. The centromere of chromosome 14 is positioned approximately at position 17.2 Mbp. Genes Number of genes The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the rig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
China
China, officially the People's Republic of China (PRC), is a country in East Asia. It is the world's List of countries and dependencies by population, most populous country, with a Population of China, population exceeding 1.4 billion, slightly ahead of India. China spans the equivalent of five time zones and Borders of China, borders fourteen countries by land, the List of countries and territories by land borders, most of any country in the world, tied with Russia. Covering an area of approximately , it is the world's third List of countries and dependencies by area, largest country by total land area. The country consists of 22 provinces of China, provinces, five autonomous regions of China, autonomous regions, four direct-administered municipalities of China, municipalities, and two special administrative regions of China, Special Administrative Regions (Hong Kong and Macau). The national capital is Beijing, and the List of cities in China by population, most populous cit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
New England
New England is a region comprising six states in the Northeastern United States: Connecticut, Maine, Massachusetts, New Hampshire, Rhode Island, and Vermont. It is bordered by the state of New York to the west and by the Canadian provinces of New Brunswick to the northeast and Quebec to the north. The Atlantic Ocean is to the east and southeast, and Long Island Sound is to the southwest. Boston is New England's largest city, as well as the capital of Massachusetts. Greater Boston is the largest metropolitan area, with nearly a third of New England's population; this area includes Worcester, Massachusetts (the second-largest city in New England), Manchester, New Hampshire (the largest city in New Hampshire), and Providence, Rhode Island (the capital of and largest city in Rhode Island). In 1620, the Pilgrims, Puritan Separatists from England, established Plymouth Colony, the second successful English settlement in America, following the Jamestown Settlement in Virg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
William Machado
William Machado de Oliveira (born 24 August 1976), known as William Machado or simply William, is a Brazilian retired footballer who played as a central defender. Playing career Early career Born in Belo Horizonte, Minas Gerais, William started his career with hometown amateurs Sete de Setembro. After a short spell with Desportiva Capixaba, he signed for Ipatinga in 1999, and was a regular starter for the club until joining Cabofriense in 2001. In 2002, William returned to his native state after agreeing to a contract with América Mineiro, a club he already represented as a youth. He failed to settle into any team in the following campaigns, representing Francana, Portuguesa and Joinville before suffering a serious injury in 2004. In 2005 William returned to Ipatinga, and subsequently became an undisputed starter for the side. Grêmio On 1 April 2006, William was presented at Grêmio. Corinthians In 2007, after the arrival of Mano Menezes to Corinthians and the demand ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Algeria
) , image_map = Algeria (centered orthographic projection).svg , map_caption = , image_map2 = , capital = Algiers , coordinates = , largest_city = capital , religion = , official_languages = , languages_type = Other languages , languages = Algerian Arabic (Darja)French , ethnic_groups = , demonym = Algerian , government_type = Unitary semi-presidential republic , leader_title1 = President , leader_name1 = Abdelmadjid Tebboune , leader_title2 = Prime Minister , leader_name2 = Aymen Benabderrahmane , leader_title3 = Council President , leader_name3 = Salah Goudjil , leader_title4 = Assembly President , leader_name4 = Ibrahim Boughali , legislature = Parliament , upper_house = Council of the Nation , lowe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Belgium
Belgium, ; french: Belgique ; german: Belgien officially the Kingdom of Belgium, is a country in Northwestern Europe. The country is bordered by the Netherlands to the north, Germany to the east, Luxembourg to the southeast, France to the southwest, and the North Sea to the northwest. It covers an area of and has a population of more than 11.5 million, making it the 22nd most densely populated country in the world and the 6th most densely populated country in Europe, with a density of . Belgium is part of an area known as the Low Countries, historically a somewhat larger region than the Benelux group of states, as it also included parts of northern France. The capital and largest city is Brussels; other major cities are Antwerp, Ghent, Charleroi, Liège, Bruges, Namur, and Leuven. Belgium is a sovereign state and a federal constitutional monarchy with a parliamentary system. Its institutional organization is complex and is structured on both regional ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Portugal
Portugal, officially the Portuguese Republic, In recognized minority languages of Portugal: :* mwl, República Pertuesa is a country located on the Iberian Peninsula, in Southwestern Europe, and whose territory also includes the Macaronesian archipelagos of the Azores and Madeira. It features the westernmost point in continental Europe, its mainland west and south border with the North Atlantic Ocean and in the north and east, the Portugal-Spain border, constitutes the longest uninterrupted border-line in the European Union. Its archipelagos form two autonomous regions with their own regional governments. On the mainland, Alentejo region occupies the biggest area but is one of the least densely populated regions of Europe. Lisbon is the capital and largest city by population, being also the main spot for tourists alongside Porto, the Algarve and Madeira. One of the oldest countries in Europe, its territory has been continuously settled and fought over since prehistoric tim ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
