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Pax-2
Paired box gene 2, also known as Pax-2, is a protein which in humans is encoded by the ''PAX2'' gene. Function The Pax Genes, or Paired-Box Containing Genes, play important roles in the development and proliferation of multiple cell lines, development of organs, and development and organization of the central nervous system. The transcription factor gene ''PAX2'' is important in the regionalized embryological development of the central nervous system. In mammals, the brain is developed in three regions: the forebrain, midbrain, and the hindbrain. Concentration gradients of fibroblast growth factor 8 (FGF8) and Wingless-Type MMTV Integration Site Family, Member 1 (Wnt1) control expression of Pax-2 during development of the Mesencephalon, or midbrain. Similar patterning during embryological development can be observed in “basal chordates or ascidians,” in which organization of the central nervous system in ascidian larvae are also controlled by fibroblast growth factor genes ... [...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 residue ... [...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 gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pax Genes
Pax or PAX may refer to: Peace * Peace (Latin: ''pax'') ** Pax (goddess), the Roman goddess of peace ** Pax, a truce term * Pax (liturgy), a salutation in Catholic and Lutheran religious services * Pax (liturgical object), an object formerly kissed as a substitute for the Kiss of Peace in the Catholic Mass Entertainment * ''Pax'' (1994 film), a Portuguese comedy * ''Pax'' (2011 film), a Norwegian-Swedish drama * PAX (event), a gamer festival * ''Pax'' (novel), by Sara Pennypacker * Pax, a fictional organization in '' Strange New World'' and elsewhere by Gene Roddenberry * PAX, a side project of the German band X Marks the Pedwalk * ''Pax'' (album) by Andrew Hill * Pax TV, which became Ion Television in 2007 Organizations * Pax Christi International, an international Catholic peace movement * PAX Association, in Poland * Pax Forlag, a Norwegian publishing house * PAX Network, a US television network now known as ION Television * Pax World Funds, a US mutual fund company * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coloboma
A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. The classical description in medical literature is of a keyhole-shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). Signs and symptoms Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for exam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Hypoplasia
Renal hypoplasia is an abnormality that a person is born with in which one or both of the kidneys are smaller than normal (hypoplastic) but with normal structure. It is defined as abnormally small kidneys, where the size is less than two standard deviations below the expected mean for the corresponding demographics, and the morphology is normal. Disease severity depends on whether hypoplasia is unilateral or bilateral, and the degree of reduction in the number of nephrons. Presentation Hypoplastic kidneys are prone to infection and kidney stone formation, have a reduced nephron number,( normal corticomedullary differentiation) Complications Renal hypoplasia is a common cause of kidney failure in children and also of adult-onset disease. Diagnosis Diagnosis is typically through ultrasonography Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical propert ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alternative Splicing
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene. This means the exons are joined in different combinations, leading to different (alternative) mRNA strands. Consequently, the proteins translated from alternatively spliced mRNAs will contain differences in their amino acid sequence and, often, in their biological functions (see Figure). Biologically relevant alternative splicing occurs as a normal phenomenon in eukaryotes, where it increases the number of proteins that can be encoded by the genome. In humans, it is widely believed that ~95% of multi-exonic genes are alternatively spliced to produce functional alternative products from the same gene but many scientists believe that most o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PAXIP1
PAX-interacting protein 1 is a protein that in humans is encoded by the ''PAXIP1'' gene. Function This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. Protein-affecting variants have also been implicated in Alzheimer's disease. Interactions PAXIP1 has been shown to interact with PAX2 and TP53BP1 Tumor suppressor p53-binding protein 1 also known as p53-binding protein 1 or 53BP1 is a protein that in humans is encoded by the ''TP53BP1'' gene. Clinical significance 53BP1 is underexpressed in most cases of triple-negative breast cancer. D .... References Further reading * * * * * * * * * {{gene-7-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pax Genes
Pax or PAX may refer to: Peace * Peace (Latin: ''pax'') ** Pax (goddess), the Roman goddess of peace ** Pax, a truce term * Pax (liturgy), a salutation in Catholic and Lutheran religious services * Pax (liturgical object), an object formerly kissed as a substitute for the Kiss of Peace in the Catholic Mass Entertainment * ''Pax'' (1994 film), a Portuguese comedy * ''Pax'' (2011 film), a Norwegian-Swedish drama * PAX (event), a gamer festival * ''Pax'' (novel), by Sara Pennypacker * Pax, a fictional organization in '' Strange New World'' and elsewhere by Gene Roddenberry * PAX, a side project of the German band X Marks the Pedwalk * ''Pax'' (album) by Andrew Hill * Pax TV, which became Ion Television in 2007 Organizations * Pax Christi International, an international Catholic peace movement * PAX Association, in Poland * Pax Forlag, a Norwegian publishing house * PAX Network, a US television network now known as ION Television * Pax World Funds, a US mutual fund company * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
