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KIAA0319
Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the ''KIAA0319'' gene. Clinical significance Variants of the KIAA0319 gene have been associated with developmental dyslexia. Reading disability, or dyslexia, is a major social, educational and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to this disorder, with heritable variation estimated at 50 to 70%. Mutations in the gene also more generally appear to play a key role in specific language impairment Specific language impairment (SLI) (the term developmental language disorder is preferred by some) is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slow development, physical ... (SLI). Function The KIAA0319 protein is expressed on the cell membr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dyslexia
Dyslexia, also known until the 1960s as word blindness, is a disorder characterized by reading below the expected level for one's age. Different people are affected to different degrees. Problems may include difficulties in spelling words, reading quickly, writing words, "sounding out" words in the head, pronouncing words when reading aloud and understanding what one reads. Often these difficulties are first noticed at school. The difficulties are involuntary, and people with this disorder have a normal desire to learn. People with dyslexia have higher rates of attention deficit hyperactivity disorder (ADHD), developmental language disorders, and difficulties with numbers. Dyslexia is believed to be caused by the interaction of genetic and environmental factors. Some cases run in families. Dyslexia that develops due to a traumatic brain injury, stroke, or dementia is sometimes called "acquired dyslexia" or alexia. The underlying mechanisms of dyslexia result from diffe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid resid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Specific Language Impairment
Specific language impairment (SLI) (the term developmental language disorder is preferred by some) is diagnosed when a child's language does not develop normally and the difficulties cannot be accounted for by generally slow development, physical abnormality of the speech apparatus, autism spectrum disorder, apraxia, acquired brain damage or hearing loss. Twin studies have shown that it is under genetic influence. Although language impairment can result from a single-gene mutation, this is unusual. More commonly SLI results from the combined influence of multiple genetic variants, each of which is found in the general population, as well as environmental influences. Classification Specific language impairment (SLI) is diagnosed when a child has delayed or disordered language development for no apparent reason. Usually the first indication of SLI is that the child is later than usual in starting to speak and subsequently is delayed in putting words together to form sentences. Spo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KIAA0319 Protein20154-300
The Kentucky Intercollegiate Athletic Association was a short-lived intercollegiate athletic football conference that existed from 1907 to 1916. The league had members, as its name suggests, in the state of Kentucky.Kentucky Intercollegiate Athletic Association , College Football Data Warehouse, retrieved October 23, 2015. Champions *1907 – Kentucky State *1914 – *1915 – Transylvania *1916 –[...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neural Development
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clathrin
Clathrin is a protein that plays a major role in the formation of coated vesicles. Clathrin was first isolated and named by Barbara Pearse in 1976. It forms a triskelion shape composed of three clathrin heavy chains and three light chains. When the triskelia interact they form a polyhedral lattice that surrounds the vesicle, hence the protein's name, which is derived from the Latin ''clathrum'' meaning lattice. Coat-proteins, like clathrin, are used to build small vesicles in order to transport molecules within cells. The endocytosis and exocytosis of vesicles allows cells to communicate, to transfer nutrients, to import signaling receptors, to mediate an immune response after sampling the extracellular world, and to clean up the cell debris left by tissue inflammation. The endocytic pathway can be hijacked by viruses and other pathogens in order to gain entry to the cell during infection. Structure The clathrin triskelion is composed of three clathrin heavy chains inte ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocytic
Endocytosis is a cellular process in which substances are brought into the cell. The material to be internalized is surrounded by an area of cell membrane, which then buds off inside the cell to form a vesicle containing the ingested material. Endocytosis includes pinocytosis (cell drinking) and phagocytosis (cell eating). It is a form of active transport. History The term was proposed by De Duve in 1963. Phagocytosis was discovered by Élie Metchnikoff in 1882. Pathways Endocytosis pathways can be subdivided into four categories: namely, receptor-mediated endocytosis (also known as clathrin-mediated endocytosis), caveolae, pinocytosis, and phagocytosis. * Clathrin-mediated endocytosis is mediated by the production of small (approx. 100 nm in diameter) vesicles that have a morphologically characteristic coat made up of the cytosolic protein clathrin. Clathrin-coated vesicles (CCVs) are found in virtually all cells and form domains of the plasma membrane termed clat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
