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Francisco Ernesto Baralle
Francisco Ernesto (Tito) Baralle (born 26 October 1943, in Buenos Aires) is an Argentinian geneticist best known for his innovations in molecular biology and in particular the discovery of how genes are processed and mechanisms in mRNA splicing. Biography Francisco Ernesto (a.k.a. Tito) Baralle was born in Buenos Aires, Argentina on 26 October 1943. After completing his Ph.D. studies at the Department of Organic Chemistry, he transferred to the Instituto de Investigaciones Bioquimicas Fundacion Campomar directed by Prof. Luis F. Leloir, now the Leloir Institute. In 1974, he moved to the MRC Laboratory of Molecular Biology, Cambridge University, UK, where he worked in the Division directed by Dr. Frederick Sanger. From (1980 to 1990), he was University Lecturer of Pathology at Oxford University and Fellow of Magdalen College. In 1993, he was awarded the Platinum Konex Award for Science and Technology (Argentina) as the best scientist of the decade in Genetics and Cytology. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Buenos Aires
Buenos Aires ( or ; ), officially the Autonomous City of Buenos Aires ( es, link=no, Ciudad Autónoma de Buenos Aires), is the capital and primate city of Argentina. The city is located on the western shore of the Río de la Plata, on South America's southeastern coast. "Buenos Aires" can be translated as "fair winds" or "good airs", but the former was the meaning intended by the founders in the 16th century, by the use of the original name "Real de Nuestra Señora Santa María del Buen Ayre", named after the Madonna of Bonaria in Sardinia, Italy. Buenos Aires is classified as an alpha global city, according to the Globalization and World Cities Research Network (GaWC) 2020 ranking. The city of Buenos Aires is neither part of Buenos Aires Province nor the Province's capital; rather, it is an autonomous district. In 1880, after decades of political infighting, Buenos Aires was federalized and removed from Buenos Aires Province. The city limits were enlarged to include t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-globin
Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the ''HBB'' gene, which along with alpha globin ( HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). It is 147 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains. HBB is encoded by the ''HBB'' gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria. At least 50 disease-causing mutations in this gene have been discovered. Gene locus HBB protein is produced by the gene ''HBB'' which is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.4. Expression of beta globin and the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Montevideo, Uruguay
Montevideo () is the Capital city, capital and List of cities in Uruguay, largest city of Uruguay. According to the 2011 census, the city proper has a population of 1,319,108 (about one-third of the country's total population) in an area of . Montevideo is situated on the southern coast of the country, on the northeastern bank of the Río de la Plata. The city was established in 1724 by a Spanish soldier, Bruno Mauricio de Zabala, as a strategic move amidst the Spanish people, Spanish-Portuguese people, Portuguese dispute over the La Plata Basin, platine region. It was also under brief British invasions of the Río de la Plata, British rule in 1807, but eventually the city was retaken by Spanish criollos who defeated the British invasions of the River Plate. Montevideo is the seat of the administrative headquarters of Mercosur and ALADI, Latin America's leading trade blocs, a position that entailed comparisons to the role of Brussels in Europe. The 2019 Mercer's report on qual ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Universidad De La Republica
The University of the Republic ( es, Universidad de la República, sometimes ''UdelaR'') is Uruguay's oldest public university. It is by far the country's largest university, as well as the second largest public university in South America and the world's 57th largest by enrollment, with a student body of 137,757 undergraduate students in 2018 and 6,351 postgraduate students in 2012. It was founded on 18 July 1849 in Montevideo, where most of its buildings and facilities are still located. Its current rector is Rodrigo Arim. History The process of founding the country's public university began on 11 June 1833, when a law proposed by then-Senator Dámaso Antonio Larrañaga was passed. It called for the creation of nine academic departments; the President of the Republic would pass a decree formally creating the departments once the majority of them were in operation. In 1836 the House of General Studies was formed, housing the departments of Latin, philosophy, mathematics, the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alzheimer Disease
Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems with language, disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the typical life expectancy following diagnosis is three to nine years. The cause of Alzheimer's disease is poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an allele of APOE. Other risk factors include a history of head injury, clinical depression, and high blood pressure ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frontotemporal Lobar Degeneration
Frontotemporal lobar degeneration (FTLD) is a pathological process that occurs in frontotemporal dementia. It is characterized by atrophy in the frontal lobe and temporal lobe of the brain, with sparing of the parietal and occipital lobes. Common proteinopathies that are found in FTLD include the accumulation of tau proteins and TAR DNA-binding protein 43 (TDP-43). Mutations in the ''C9orf72'' gene have been established as a major genetic contribution of FTLD, although defects in the granulin (GRN) and microtubule-associated proteins (MAPs) are also associated with it. Classification There are 3 main histological subtypes found at post-mortem: * FTLD-tau is characterised by tau positive inclusion bodies often referred to as Pick-bodies. Examples of FTLD-tau include; Pick's disease, corticobasal degeneration, progressive supranuclear palsy. * FTLD-TDP (or FTLD-U ) is characterised by ubiquitin and TDP-43 positive, tau negative, FUS negative inclusion bodies. The pathological h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TDP 43
TAR DNA-binding protein 43 (TDP-43, transactive response DNA binding protein 43 kDa) is a protein that in humans is encoded by the ''TARDBP'' gene. Structure TDP-43 is 414 amino acid residues long. It consists of 4 domains: an N-terminal domain spanning residues 1-76 (NTD) with a well-defined fold that has been shown to form a dimer or oligomer; 2 highly conserved folded RNA recognition motifs spanning residues 106-176 (RRM1) and 191-259 (RRM2), respectively, required to bind target RNA and DNA; an unstructured C-terminal domain encompassing residues 274-414 (CTD), which contains a glycine-rich region, is involved in protein-protein interactions, and harbors most of the mutations associated with familial amyotrophic lateral sclerosis. The entire protein devoid of large solubilising tags has been purified. The full-length protein is a dimer. The dimer is formed due to a self-interaction between two NTD domains, where the dimerisation can be propagated to form higher-orde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exonic Splicing Enhancer
In molecular biology, an exonic splicing enhancer (ESE) is a DNA sequence motif consisting of 6 bases within an exon that directs, or enhances, accurate splicing of heterogeneous nuclear RNA (hnRNA) or pre-mRNA into messenger RNA (mRNA). Introduction Short sequences of DNA are transcribed to RNA; then this RNA is translated to a protein. A gene located in DNA will contain introns and exons. Part of the process of preparing the RNA includes splicing out the introns, sections of RNA that do not code for the protein. The presence of exonic splicing enhancers is essential for proper identification of splice sites by the cellular machinery. Role in splicing SR proteins bind to and promote exon splicing in regions with ESEs, while heterogeneous ribonucleoprotein particles (hnRNPs) bind to and block exon splicing in regions with exonic splicing silencers. Both types of proteins are involved in the assembly and proper functioning of spliceosomes. During RNA splicing, U2 small n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exons
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. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alternative Splicing
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code 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. This means the exons are joined in different combinations, leading to different (alternative) mRNA strands. Consequently, the proteins translated from alternatively spliced mRNAs will contain differences in their amino acid sequence and, often, in their biological functions (see Figure). Biologically relevant alternative splicing occurs as a normal phenomenon in eukaryotes, where it increases the number of proteins that can be encoded by the genome. In humans, it is widely believed that ~95% of multi-exonic genes are alternatively spliced to produce functional alternative products from the same gene but many scientists believe that most o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Embryonic Hemoglobin
The human embryonic haemoglobins were discovered in 1961. These include Hb-Gower 1, consisting of 2 zeta chains and 2 epsilon chains, and Hb-Gower 2, which consists of 2 αlpha-chains and 2 epsilon-chains, the zeta and epsilon chains being the embryonic haemoglobin chains. Embryonic hemoglobin is a tetramer produced in the blood islands in the embryonic yolk sac during the mesoblastic stage (from 3rd week of pregnancy until 3 months). The protein is commonly referred to as hemoglobin ε. Chromosomal abnormalities can lead to a delay in switching from embryonic hemoglobin. Hemoglobin Gower 1 Hemoglobin Gower 1 (also referred to as ζ2ε2 or HbE Gower-1) is a form of hemoglobin existing only during embryonic life, and is the primary embryonic hemoglobin. It is composed of two zeta chains and two epsilon chains, and is relatively unstable, breaking down easily. Hemoglobin Gower 2 Hemoglobin Gower 2 (also referred to as α2ε2 or HbE Gower-2) is a form of hemoglobin existing ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
