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IVIC Syndrome
IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears. Presentation People with this disorder often have the following symptoms: * Radial ray defects * Fusion of the carpal bones * Long thumb metacarpal * Short distal phalange of the thumb * Bilateral congenital hearing loss * Internal ophthalmoplegia (eye paralysis) * Thrombocytopenia * Leukocytosis. Etimology This disorder was first discovered in 1980 by ''Arias et al.'', when he described a Venezuelan family of Caucasian descent where 19 of its members exhibited the symptoms mentioned above. When the family tree was revised, it was found that the family's ancestors emigrated from the Canary Islands to Venezuela 140 years before, more specifically somewhere in the 1800s, the mutation ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Italy
Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical region. Italy is also considered part of Western Europe, and shares land borders with France, Switzerland, Austria, Slovenia and the enclaved microstates of Vatican City and San Marino. It has a territorial exclave in Switzerland, Campione. Italy covers an area of , with a population of over 60 million. It is the third-most populous member state of the European Union, the sixth-most populous country in Europe, and the tenth-largest country in the continent by land area. Italy's capital and largest city is Rome. Italy was the native place of many civilizations such as the Italic peoples and the Etruscans, while due to its central geographic location in Southern Europe and the Mediterranean, the country has also historically been home ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 20
Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs. Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 66 million base pairs. Genes Number of genes The following are some of the gene count estimates of human chromosome 20. 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SALL4
Sal-like protein 4 (SALL4) is a transcription factor encoded by a member of the ''Spalt-like'' (''SALL'') gene family, ''SALL4''. The ''SALL'' genes were identified based on their sequence homology to ''Spalt,'' which is a homeotic gene originally cloned in ''Drosophila melanogaster'' that is important for terminal trunk structure formation in embryogenesis and imaginal disc development in the larval stages. There are four human SALL proteins (SALL1, 2, 3, and 4) with structural homology and playing diverse roles in embryonic development, kidney function, and cancer. The ''SALL4'' gene encodes at least three isoforms, termed A, B, and C, through alternative splicing, with the A and B forms being the most studied. SALL4 can alter gene expression changes through its interaction with many co-factors and epigenetic complexes. It is also known as a key embryonic stem cell ( ESC) factor. Structure, interaction partners, and DNA binding activity SALL4 contains one zinc finger in its ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genetics
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. Genetic differences and inheritance patterns Inheritance of traits for humans are based upon Gregor Mendel's model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes. Autosomal dominant inheritance Autosomal tr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biology
Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary information encoded in genes, which can be transmitted to future generations. Another major theme is evolution, which explains the unity and diversity of life. Energy processing is also important to life as it allows organisms to move, grow, and reproduce. Finally, all organisms are able to regulate their own internal environments. Biologists are able to study life at multiple levels of organization, from the molecular biology of a cell to the anatomy and physiology of plants and animals, and evolution of populations.Based on definition from: Hence, there are multiple subdisciplines within biology, each defined by the nature of their research questions and the tools that they use. Like other scientists, biologists use the sc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zoology
Zoology ()The pronunciation of zoology as is usually regarded as nonstandard, though it is not uncommon. is the branch of biology that studies the Animal, animal kingdom, including the anatomy, structure, embryology, evolution, Biological classification, classification, Ethology, habits, and distribution of all animals, both living and extinction, extinct, and how they interact with their ecosystems. The term is derived from Ancient Greek , ('animal'), and , ('knowledge', 'study'). Although humans have always been interested in the natural history of the animals they saw around them, and made use of this knowledge to domesticate certain species, the formal study of zoology can be said to have originated with Aristotle. He viewed animals as living organisms, studied their structure and development, and considered their adaptations to their surroundings and the function of their parts. The Greek physician Galen studied human anatomy and was one of the greatest surgeons of the a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Venezuelan Institute For Scientific Research
The Venezuelan Institute for Scientific Research (IVIC), or ''Instituto Venezolano de Investigaciones Cientificas'', is a scientific research institute and graduate training center in Venezuela founded by government decree on February 9, 1959. It has its origins in the Venezuelan Institute of Neurology and Brain Research ('IVNIC', In Spanish: Instituto Venezolano de Neurología e Investigaciones Cerebrales), which Humberto Fernández Morán, Humberto Fernandez-Moran founded in 1955. The center has the Marcel Roche Library, recognized in 1996 by UNESCO as being "the best Regional Library for Science and Technology". The headquarters of the IVIC is located near San Antonio de los Altos, in Altos de Pipe, Miranda State. The grounds cover 832-acre headquarters, where are the scientific and academic facilities, residences for researchers, students and staff, storeroom, dining, administration and service area, library, etc. Within this area there are some pockets of tropical cloud forest ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sergio Arias Cazorla
Sergio Arias Cazorla (born 1952) is a human geneticist who worked as a geneticist in the Venezuelan Institute for Scientific Research (Spanish: Instituto Venezolano de Investigaciónes Científicas). He first started studying medicine at the ''Universidad Central de Venezuela'', in Caracas, Venezuela from 1952 to 1959, then did postgraduate studies in internal medicine from 1959 to 1961. He worked as a zoology professor from 1952 to 1953 at the ''Escuela de Capacitación Forestal de El Junquito'' (English: ''Forest Capacitation School El Junquito''), then from 1964 to 1966 he became a fellow in medical genetics at the Johns Hopkins University in Baltimore, United States, then in June 1969 he founded the ''Human Genetics laboratory,'' at the ''Venezuelan Institute for Scientific Research,'' which he created to do research on hereditary/genetic disorders that are present in Venezuela, then from 1970 to 1975 he worked as a biology professor at the ''Universidad Simón Bolívar'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Venezuela
Venezuela (; ), officially the Bolivarian Republic of Venezuela ( es, link=no, República Bolivariana de Venezuela), is a country on the northern coast of South America, consisting of a continental landmass and many islands and islets in the Caribbean Sea. It has a territorial extension of , and its population was estimated at 29 million in 2022. The capital and largest urban agglomeration is the city of Caracas. The continental territory is bordered on the north by the Caribbean Sea and the Atlantic Ocean, on the west by Colombia, Brazil on the south, Trinidad and Tobago to the north-east and on the east by Guyana. The Venezuelan government maintains a claim against Guyana to Guayana Esequiba. Venezuela is a federal presidential republic consisting of 23 states, the Capital District and federal dependencies covering Venezuela's offshore islands. Venezuela is among the most urbanized countries in Latin America; the vast majority of Venezuelans live in the cities of the n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
