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FG Syndrome
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head). Presentation FG syndrome's major clinical features include physical disability, usually mild; hyperactive behavior, often with a slow personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting upper lip; and most or com ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of ''Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it ''X element'', which later be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rain Man
''Rain Man'' is a 1988 American road movie, road Drama (film and television), drama film directed by Barry Levinson and written by Barry Morrow and Ronald Bass. It tells the story of abrasive, selfish young wikt:wheeler-dealer, wheeler-dealer Charlie Babbitt (Tom Cruise), who discovers that his estranged father has died and bequeathed virtually all of his multimillion-dollar estate to his other son, Raymond (Dustin Hoffman), a Savant syndrome, savant, of whose existence Charlie was unaware. Charlie is left with only his father's beloved vintage car and rosebushes. Valeria Golino also stars as Charlie's girlfriend Susanna. Morrow created the character of Raymond after meeting Kim Peek, a real-life savant; his characterization was based on both Peek and Bill Sackter, a good friend of Morrow who was the subject of ''Bill (1981 film), Bill'' (1981), an earlier film that Morrow wrote.Barry Morrow's audio commentary for ''Rain Man'' from the DVD release. ''Rain Man'' premiered at the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dustin Hoffman
Dustin Lee Hoffman (born August 8, 1937) is an American actor and filmmaker. As one of the key actors in the formation of New Hollywood, Hoffman is known for his versatile portrayals of antiheroes and emotionally vulnerable characters. He is the recipient of numerous accolades including two Academy Awards, five Golden Globe Awards, four British Academy Film Awards, three Drama Desk Awards, and two Primetime Emmy Awards. Hoffman has received numerous honors including the Cecil B. DeMille Award in 1997, the AFI Life Achievement Award in 1999, and the Kennedy Center Honors Award in 2012. Actor Robert De Niro described him as "an actor with the everyman's face who embodied the heartbreakingly human". At a young age Hoffman knew he wanted to study in the arts, and entered into the Los Angeles Conservatory of Music; later he decided to go into acting, for which he trained at the Pasadena Playhouse in Los Angeles. He soon starred in the 1966 off-Broadway play '' Eh?'', for which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kim Peek
Laurence Kim Peek (November 11, 1951December 19, 2009) was an People of the United States, American savant syndrome, savant. Known as a "megasavant", he had an exceptional memory, but he also experienced social difficulties, possibly resulting from a developmental disability related to congenital Human brain, brain abnormalities. He was the inspiration for the character Raymond Babbitt in the 1988 movie ''Rain Man''. Although Peek was previously diagnosed with autism, he is now thought to have had FG syndrome.Weber B (December 26, 2009)"Kim Peek, inspiration for 'Rain Man,' dies at 58" ''The New York Times''. Retrieved January 8, 2010. The Utah Film Center's Peek Award honors his legacy. Early life Laurence Kim Peek was born in Salt Lake City, Utah, with macrocephaly, damage to the cerebellum, and agenesis of the corpus callosum,"The Real Rain Man", documentary by Focus Productions, Bristol, England, UK, 2006. a condition in which the bundle of nerves that connects the two hemisp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kim Peek, Diagnosed With Savant Syndrome
Kim or KIM may refer to: Names * Kim (given name) * Kim (surname) ** Kim (Korean surname) *** Kim family (other), several dynasties **** Kim family (North Korea), the rulers of North Korea since Kim Il-sung in 1948 ** Kim, Vietnamese form of Jin (Chinese surname) Languages * Kim language, a language of Chad * Kim language (Sierra Leone), a language of Sierra Leone * kim, the ISO 639 code of the Tofa language of Russia Media * ''Kim'' (album), a 2009 album by Kim Fransson * "Kim" (song), 2000 song by Eminem * "Kim", a song by Tkay Maidza, 2021 * ''Kim'' (novel), by Rudyard Kipling ** ''Kim'' (1950 film), an American adventure film based on the novel ** ''Kim'' (1984 film), a British film based on the novel * "Kim" (''M*A*S*H''), a 1973 episode of the American television show ''M*A*S*H'' * ''Kim'' (magazine), defunct Turkish women's magazine (1992–1999) Organizations * Kenya Independence Movement, a defunct political party in Kenya * Khalifa Islamiyah Mindanao, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Signal Transduction
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellular response. Proteins responsible for detecting stimuli are generally termed receptors, although in some cases the term sensor is used. The changes elicited by ligand binding (or signal sensing) in a receptor give rise to a biochemical cascade, which is a chain of biochemical events known as a signaling pathway. When signaling pathways interact with one another they form networks, which allow cellular responses to be coordinated, often by combinatorial signaling events. At the molecular level, such responses include changes in the transcription or translation of genes, and post-translational and conformational changes in proteins, as well as changes in their location. These molecular events are the basic mechanisms controlling cell growth, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Activator Proteins
A transcriptional activator is a protein (transcription factor) that increases transcription of a gene or set of genes. Activators are considered to have ''positive'' control over gene expression, as they function to promote gene transcription and, in some cases, are required for the transcription of genes to occur. Most activators are DNA-binding proteins that bind to enhancers or promoter-proximal elements. The DNA site bound by the activator is referred to as an "activator-binding site". The part of the activator that makes protein–protein interactions with the general transcription machinery is referred to as an "activating region" or "activation domain". Most activators function by binding sequence-specifically to a regulatory DNA site located near a promoter and making protein–protein interactions with the general transcription machinery (RNA polymerase and general transcription factors), thereby facilitating the binding of the general transcription machinery to the prom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Repressor Proteins
In molecular genetics, a repressor is a DNA- or RNA-binding protein that inhibits the expression of one or more genes by binding to the operator or associated silencers. A DNA-binding repressor blocks the attachment of RNA polymerase to the promoter, thus preventing transcription of the genes into messenger RNA. An RNA-binding repressor binds to the mRNA and prevents translation of the mRNA into protein. This blocking or reducing of expression is called repression. Function If an inducer, a molecule that initiates the gene expression, is present, then it can interact with the repressor protein and detach it from the operator. RNA polymerase then can transcribe the message (expressing the gene). A co-repressor is a molecule that can bind to the repressor and make it bind to the operator tightly, which decreases transcription. A repressor that binds with a co-repressor is termed an ''aporepressor'' or ''inactive repressor''. One type of aporepressor is the trp repressor, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factors
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The function of TFs is to regulate—turn on and off—genes in order to make sure that they are expressed in the desired cells at the right time and in the right amount throughout the life of the cell and the organism. Groups of TFs function in a coordinated fashion to direct cell division, cell growth, and cell death throughout life; cell migration and organization (body plan) during embryonic development; and intermittently in response to signals from outside the cell, such as a hormone. There are up to 1600 TFs in the human genome. Transcription factors are members of the proteome as well as regulome. TFs work alone or with other proteins in a complex, by promoting (as an activator), or blocking (as a repressor) the recruitment of RNA po ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RNA Polymerase II
RNA polymerase II (RNAP II and Pol II) is a multiprotein complex that transcribes DNA into precursors of messenger RNA (mRNA) and most small nuclear RNA (snRNA) and microRNA. It is one of the three RNAP enzymes found in the nucleus of eukaryotic cells. A 550 kDa complex of 12 subunits, RNAP II is the most studied type of RNA polymerase. A wide range of transcription factors are required for it to bind to upstream gene promoters and begin transcription. Discovery Early studies suggested a minimum of two RNAPs: one which synthesized rRNA in the nucleolus, and one which synthesized other RNA in the nucleoplasm, part of the nucleus but outside the nucleolus. In 1969, science experimentalists Robert Roeder and William Rutter definitively discovered an additional RNAP that was responsible for transcription of some kind of RNA in the nucleoplasm. The finding was obtained by the use of ion-exchange chromatography via DEAE coated Sephadex beads. The technique separated the enzymes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Regulation Of Gene Expression
Regulation of gene expression, or gene regulation, includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). Sophisticated programs of gene expression are widely observed in biology, for example to trigger developmental pathways, respond to environmental stimuli, or adapt to new food sources. Virtually any step of gene expression can be modulated, from Transcriptional regulation, transcriptional initiation, to RNA processing, and to the post-translational modification of a protein. Often, one gene regulator controls another, and so on, in a gene regulatory network. Gene regulation is essential for viruses, prokaryotes and eukaryotes as it increases the versatility and adaptability of an organism by allowing the cell to express protein when needed. Although as early as 1951, Barbara McClintock showed interaction between two genetic loci, Activator (''Ac'') and Dissociator (''Ds''), in the color f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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