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Neotenic Complex Syndrome
Neotenic complex syndrome (NCS) is a syndrome that presents as an extreme form of developmental delay, with the defining characteristic being neoteny of the patient. It was named in 2017 by Dr. Richard F. Walker, who discovered several genes implicated in the syndrome. Prior to 2015, when whole genome sequencing was used to identify some genes involved in NCS, the condition was labelled "Syndrome X" when it was first discovered in Brooke Greenberg. Thereafter, others with the developmental symptoms were sought out in order to find common genetic aberrations that could provide clues as to cause. To date, seven human females have been diagnosed with NCS. In five patients, coding ''de novo'' mutations were found in five different genes which fall into similar functional categories of transcription regulation and chromatin modification. Genetics In most of the patients analyzed, researchers identified missense ''de novo'' mutations in a set of genes. Mutations in three of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neoteny
Neoteny (), also called juvenilization,Montagu, A. (1989). Growing Young. Bergin & Garvey: CT. is the delaying or slowing of the physiological, or somatic, development of an organism, typically an animal. Neoteny is found in modern humans compared to other primates. In progenesis or paedogenesis, sexual development is accelerated. Both neoteny and progenesis result in paedomorphism (as having the form typical of children) or paedomorphosis (changing towards forms typical of children), a type of heterochrony. It is the retention in adults of traits previously seen only in the young. Such retention is important in evolutionary biology, domestication and evolutionary developmental biology. Some authors define paedomorphism as the retention of larval traits, as seen in salamanders.Schell, S. C. ''Handbook of Trematodes of North America North of Mexico'', 1985, pg. 22 History and etymology The origins of the concept of neoteny have been traced to the Bible (as argued by Ashley Monta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Non-coding DNA
Non-coding DNA (ncDNA) sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules (e.g. transfer RNA, microRNA, piRNA, ribosomal RNA, and regulatory RNAs). Other functional regions of the non-coding DNA fraction include regulatory sequences that control gene expression; scaffold attachment regions; origins of DNA replication; centromeres; and telomeres. Some non-coding regions appear to be mostly nonfunctional such as introns, pseudogenes, intergenic DNA, and fragments of transposons and viruses. Fraction of non-coding genomic DNA In bacteria, the coding regions typically take up 88 % of the genome. The remaining 12 % consists largely of non-coding genes and regulatory sequences, which means that almost all of the bacterial genome has a function. The amount of coding DNA in eukaryrotes is usually a much smaller fraction of the genome because eukaryotic genomes contai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Neuroscience
The development of the nervous system, or neural development (neurodevelopment), refers to the processes that generate, shape, and reshape the nervous system of animals, from the earliest stages of embryonic development to adulthood. The field of neural development draws on both neuroscience and developmental biology to describe and provide insight into the cellular and molecular mechanisms by which complex nervous systems develop, from nematodes and fruit flies to mammals. Defects in neural development can lead to malformations such as holoprosencephaly, and a wide variety of neurological disorders including limb paresis and paralysis, balance and vision disorders, and seizures, and in humans other disorders such as Rett syndrome, Down syndrome and intellectual disability. Overview of vertebrate brain development The vertebrate central nervous system (CNS) is derived from the ectoderm—the outermost germ layer of the embryo. A part of the dorsal ectoderm becomes specifie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vienna
en, Viennese , iso_code = AT-9 , registration_plate = W , postal_code_type = Postal code , postal_code = , timezone = CET , utc_offset = +1 , timezone_DST = CEST , utc_offset_DST = +2 , blank_name = Vehicle registration , blank_info = W , blank1_name = GDP , blank1_info = € 96.5 billion (2020) , blank2_name = GDP per capita , blank2_info = € 50,400 (2020) , blank_name_sec1 = HDI (2019) , blank_info_sec1 = 0.947 · 1st of 9 , blank3_name = Seats in the Federal Council , blank3_info = , blank_name_sec2 = GeoTLD , blank_info_sec2 = .wien , website = , footnotes = , image_blank_emblem = Wien logo.svg , blank_emblem_size = Vienna ( ; german: Wien ; ba ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stockerau
Stockerau () is a town in the district of Korneuburg (district), Korneuburg in Lower Austria, Austria. Stockerau has 15,921 inhabitants, which makes it the largest town in the Weinviertel.https://statistik.at/wcm/idc/idcplg?IdcService=GET_PDF_FILE&RevisionSelectionMethod=LatestReleased&dDocName=103418 Stockerau is also called "Lenaustadt" (Lenau Town) because the Austrian poet Nikolaus Lenau often spent time with his grandparents here. Population Amenities Leisure facilities are various: wellness centre, sports centre with three gyms, judo and table tennis gym, skittle alley and football stadium. In addition there are indoor and outdoor tennis facilities. Stockerau offers a range of exhibitions, concerts, readings and singing evenings in the cultural centre "Belvedereschlößl". In the cellar of this castle, built in 16th century and revitalised by the town community in the year 1984, you will find the district museum. Between Stockerau and the Danube there is a large forest ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Michigan
Michigan () is a state in the Great Lakes region of the upper Midwestern United States. With a population of nearly 10.12 million and an area of nearly , Michigan is the 10th-largest state by population, the 11th-largest by area, and the largest by area east of the Mississippi River.''i.e.'', including water that is part of state territory. Georgia is the largest state by land area alone east of the Mississippi and Michigan the second-largest. Its capital is Lansing, and its largest city is Detroit. Metro Detroit is among the nation's most populous and largest metropolitan economies. Its name derives from a gallicized variant of the original Ojibwe word (), meaning "large water" or "large lake". Michigan consists of two peninsulas. The Lower Peninsula resembles the shape of a mitten, and comprises a majority of the state's land area. The Upper Peninsula (often called "the U.P.") is separated from the Lower Peninsula by the Straits of Mackinac, a channel that joins Lak ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Crystal Falls, Michigan
Crystal Falls is a city and the county seat of Iron County, Michigan. As of the 2010 census, the city population was 1,469. The city is located within Crystal Falls Township, but is a separate municipal entity. The area first developed as a major center for iron mining and the timber industry; it has become increasingly popular for tourism in recent years. History Crystal Falls was platted in 1881. It was named for a nearby icy waterfall on the Paint River. A post office called Crystal Falls has been in operation since 1885. Geography According to the United States Census Bureau, the city has a total area of , of which is land and is water. The city is very hilly and the castle-like county courthouse (built in 1890) sits on the highest point, overlooking the downtown business district. Transportation * * * *Indian Trails provides daily intercity bus service between St. Ignace and Ironwood, Michigan. Climate Michigan State University's study of Crystal Falls weather conclud ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Linkage
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNase I Hypersensitive Site
In genetics, DNase I hypersensitive sites (DHSs) are regions of chromatin that are sensitive to cleavage by the DNase I enzyme. In these specific regions of the genome, chromatin has lost its condensed structure, exposing the DNA and making it accessible. This raises the availability of DNA to degradation by enzymes, such as DNase I. These accessible chromatin zones are functionally related to transcriptional activity, since this remodeled state is necessary for the binding of proteins such as transcription factors. Since the discovery of DHSs 30 years ago, they have been used as markers of regulatory DNA regions. These regions have been shown to map many types of cis-regulatory elements including promoters, enhancers, insulators, silencers and locus control regions. A high-throughput measure of these regions is available through DNase-Seq. Massive analysis The ENCODE project proposes to map all of the DHSs in the human genome with the intention of cataloging human regulatory DN ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
