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Galactokinase Deficiency
Galactokinase deficiency is an autosome, autosomal dominance (genetics), recessive inborn errors of metabolism, metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. The disorder is caused by mutations in the GALK1 gene, located on chromosome chromosome 17, 17q24. Galactokinase catalyzes the first step of galactose phosphorylation in the Leloir pathway of intermediate metabolism. Galactokinase deficiency is one of the three inborn errors of metabolism that lead to hypergalactosemia. The disorder is inherited as an autosome, autosomal dominance (genetics), recessive trait. Unlike Galactose-1-phosphate uridylyltransferase deficiency, classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of catarac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactitol
Galactitol (dulcitol) is a sugar alcohol, the reduction product of galactose. It has a slightly sweet taste. In people with galactokinase deficiency, a form of galactosemia, excess dulcitol forms in the lens of the eye leading to cataracts. Galactitol is produced from galactose in a reaction catalyzed by aldose reductase. The other common galactose metabolism defect is a defect in galactose-1-phosphate uridylyltransferase Galactose-1-phosphate uridyltransferase (or GALT, G1PUT) is an enzyme () responsible for converting ingested galactose to glucose. Galactose-1-phosphate uridyltransferase (GALT) catalyzes the second step of the Leloir pathway of galactose meta ..., an autosomal recessive disorder, which also causes a buildup of galactitol as a result of increased concentrations of galactose-1-phosphate and galactose. This disorder leads to cataracts caused by galactitol buildup. References External links * {{Fructose and galactose metabolic intermediates Sugar a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive - En
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactosemia
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetics, genetic Metabolism, metabolic Disease, disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie. Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosemia is about one hundred times more common (1:480 births) in the Irish Traveller population. Symptoms and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endoplasmic Reticulum
The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for "little net". It is a type of organelle made up of two subunits – rough endoplasmic reticulum (RER), and smooth endoplasmic reticulum (SER). The endoplasmic reticulum is found in most eukaryotic cells and forms an interconnected network of flattened, membrane-enclosed sacs known as cisternae (in the RER), and tubular structures in the SER. The membranes of the ER are continuous with the outer nuclear membrane. The endoplasmic reticulum is not found in red blood cells, or spermatozoa. There are two types of ER that share many of the same proteins and engage in certain common activities such as the synthesis of certain lipids and cholesterol. Different types of Cell (biology), cells contain different ratios of the two types of ER dependin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RACE PCR
Rapid amplification of cDNA ends (RACE) is a technique used in molecular biology to obtain the full length sequence of an RNA transcript found within a cell. RACE results in the production of a cDNA copy of the RNA sequence of interest, produced through reverse transcription, followed by PCR amplification of the cDNA copies (see RT-PCR). The amplified cDNA copies are then sequenced and, if long enough, should map to a unique genomic region. RACE is commonly followed up by cloning before sequencing of what was originally individual RNA molecules. A more high-throughput alternative which is useful for identification of novel transcript structures, is to sequence the RACE-products by next generation sequencing technologies. Process RACE can provide the sequence of an RNA transcript from a small known sequence within the transcript to the 5' end (5' RACE-PCR) or 3' end (3' RACE-PCR) of the RNA. This technique is sometimes called ''one-sided PCR'' or ''anchored PCR''. The first step ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RNA Polymerase II
RNA polymerase II (RNAP II and Pol II) is a Protein complex, multiprotein complex that Transcription (biology), transcribes DNA into precursors of messenger RNA (mRNA) and most small nuclear RNA (snRNA) and microRNA. It is one of the three RNA polymerase, RNAP enzymes found in the nucleus of eukaryote, 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 promoter (biology), 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, biochemists Robert G. Roeder and William J. Rutter, William Rutter discovered there are total three distinct nuclear RNA polymerases, an additional RNAP that was responsible for transcription of some kind of RNA in the nucleoplasm. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCAAT-box
In molecular biology, a CCAAT box (also sometimes abbreviated a CAAT box or CAT box) is a distinct pattern of nucleotides with GGCCAATCT consensus sequence that occur upstream by 60–100 bases to the initial transcription site. The CAAT box signals the binding site for the RNA transcription factor, and is typically accompanied by a conserved consensus sequence. It is an invariant DNA sequence at about minus 70 base pairs from the origin of transcription in many eukaryotic promoters. Genes that have this element seem to require it for the gene to be transcribed in sufficient quantities. It is frequently absent from genes that encode proteins used in virtually all cells. This box along with the GC box is known for binding general transcription factors. Both of these consensus sequences belong to the regulatory promoter. Full gene expression occurs when transcription activator proteins bind to each module within the regulatory promoter. Protein specific binding is required for the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TATA-box
In molecular biology, the TATA box (also called the Goldberg–Hogness box) is a sequence of DNA found in the core promoter region of genes in archaea and eukaryotes. The bacterial homolog of the TATA box is called the Pribnow box which has a shorter consensus sequence. The TATA box is considered a non-coding DNA sequence (also known as a cis-regulatory element). It was termed the "TATA box" as it contains a consensus sequence characterized by repeating T and A base pairs. How the term "box" originated is unclear. In the 1980s, while investigating nucleotide sequences in mouse genome loci, the Hogness box sequence was found and "boxed in" at the -31 position. When consensus nucleotides and alternative ones were compared, homologous regions were "boxed" by the researchers. The boxing in of sequences sheds light on the origin of the term "box". The TATA box was first identified in 1978 as a component of eukaryotic promoters. Transcription is initiated at the TATA box in TATA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sp1 Transcription Factor
Transcription factor Sp1, also known as specificity protein 1* is a protein that in humans is encoded by the ''SP1'' gene. Function The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. post-translational modifications such as phosphorylation, acetylation, ''O''-GlcNAcylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. In the SV40 virus, Sp1 binds to the GC boxes in the regulatory sequence of the genome. Structure SP1 belongs to the Sp/KLF family of transcription factors. The protein is 785 amino acids long, with a molecular weight of 81 kDa. The SP1 transcription factor contains two glutamine-rich activation domains at its N-terminus that ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Social Smile
Social organisms, including human(s), live collectively in interacting populations. This interaction is considered social whether they are aware of it or not, and whether the exchange is voluntary or not. Etymology The word "social" derives from the Latin word ''socii'' ("allies"). It is particularly derived from the Italian ''Socii'' states, historical allies of the Roman Republic (although they rebelled against Rome in the Social War of 91–87 BC). Social theorists In the view of Karl Marx,Morrison, Ken. ''Marx, Durkheim, Weber. Formations of modern social thought'' human beings are intrinsically, necessarily and by definition social beings who, beyond being "gregarious creatures", cannot survive and meet their needs other than through social co-operation and association. Their social characteristics are therefore to a large extent an objectively given fact, stamped on them from birth and affirmed by socialization processes; and, according to Marx, in producing and reproduci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WebMD
WebMD is an American corporation which publishes online news and information about human health and well-being. The WebMD website also includes information about drugs and is an important healthcare information website and the most popular consumer-oriented health site. WebMD was started in 1998 by internet entrepreneur Jeff Arnold. In early 1999, it was part of a three-way merger with Sapient Health Network (SHN) and Direct Medical Knowledge (DMK). SHN began in Portland, Oregon, in 1996 by Jim Kean, Bill Kelly, and Kris Nybakken, who worked together at a CD-ROM publishing firm, Creative Multimedia. Later, in 1999, WebMD merged with Healtheon, founded by Netscape Communications founder James H. Clark. History WebMD is best known as a health information services website, which publishes content regarding health and health care topics, including a symptom checklist, pharmacy information, drugs information, and blogs of physicians with specific topics, and provides a place t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EMedicine
eMedicine is an online clinical medical knowledge base founded in 1996 by doctors Scott Plantz and Jonathan Adler, and computer engineers Joanne Berezin and Jeffrey Berezin. The eMedicine website consists of approximately 6,800 medical topic review articles, each of which is associated with a clinical subspecialty "textbook". The knowledge base includes over 25,000 clinically multimedia files. Each article is authored by board certified specialists in the subspecialty to which the article belongs and undergoes three levels of physician peer-review, plus review by a Doctor of Pharmacy. The article's authors are identified with their current faculty appointments. Each article is updated yearly, or more frequently as changes in practice occur, and the date is published on the article. eMedicine.com was sold to WebMD in January, 2006 and is available as the Medscape Reference. History Plantz, Adler and Berezin evolved the concept for eMedicine.com in 1996 and deployed the initia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
