ALX3
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ALX3
The ALX3 gene, also known as aristaless-like homeobox 3, is a protein coding gene that provides instructions to build a protein which is a member of the homeobox protein family. This grouping regulates patterns of anatomical development. The gene encodes a nuclear protein that functions as a transcription regulator involved in cell-type differentiation and development. The ALX3 protein, encoded by the gene, is a transcription factor, meaning that it binds to DNA and obtains control over the action of other genes. The ALX3 protein specifically controls genes that regulate cell growth, proliferation, and migration. This protein is essential for the development of the head and face, specifically the nose. This event begins around the fourth week of development. At least 7 mutations in the ALX3 gene are known to cause frontonasal dysplasia. The mutations eliminate the function of the ALX3 protein, resulting in decreased ability to bind to DNA. The loss of regulatory function re ...
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Frontonasal Dysplasia
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull with protrusion of the brain) or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.Wu E, Vargevik K, Slavotinek AM (2007) Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 143A(24):3069-78. Classification There are multiple classification systems for FND. None of these classification systems have unraveled any g ...
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Homeobox
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full-grown organism. Homeoboxes are found within genes that are involved in the regulation of patterns of anatomical development (morphogenesis) in animal Animals are multicellular, eukaryotic organisms in the Kingdom (biology), biological kingdom Animalia. With few exceptions, animals Heterotroph, consume organic material, Cellular respiration#Aerobic respiration, breathe oxygen, are Motilit ...s, fungus, fungi, plants, and numerous single cell eukaryotes. Homeobox genes encode homeodomain protein products that are transcription factors sharing a characteristic protein fold structure that binds DNA to regulate expression of target genes. Homeodomain proteins regulate gene expression and cell differentiation during early embryonic dev ...
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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 ...
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Head (anatomy)
A head is the part of an organism which usually includes the ears, brain, forehead, cheeks, chin, eyes, nose, and mouth, each of which aid in various sensory functions such as sight, hearing, smell, and taste. Some very simple animals may not have a head, but many bilaterally symmetric forms do, regardless of size. Heads develop in animals by an evolutionary trend known as cephalization. In bilaterally symmetrical animals, nervous tissue concentrate at the anterior region, forming structures responsible for information processing. Through biological evolution, sense organs and feeding structures also concentrate into the anterior region; these collectively form the head. Human head The human head is an anatomical unit that consists of the skull, hyoid bone and cervical vertebrae. The term "skull" collectively denotes the mandible (lower jaw bone) and the cranium (upper portion of the skull that houses the brain). Sculptures of human heads are generally based ...
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Cleft Nose
A cleft is an opening, fissure, or V-shaped indentation. Cleft may refer to: Linguistics * A cleft sentence, a type of grammatical construction Anatomy * Cleft lip and palate, a congenital deformity * A cleft chin, a dimple on the chin * The pudendal cleft, part of the female genitalia * Intergluteal cleft, the groove between the buttocks Places * Cleft Island (Antarctica) * Cleft Island (Victoria) * Cleft Ledge * Cleft Point * Cleft Peak * Cleft Rock Fiction * ''The Cleft'', a novel by 2007 Nobel prize laureate Doris Lessing * The Cleft, a location in Age of D'ni from the computer game ''Myst'' * Cleft, the Boy Chin Wonder, a character in ''The Fairly Odd Parents'' * Rainbow Cleft (Cirith Ninniach), a minor place in Beleriand, J. R. R. Tolkien's Middle-earth legendarium. See also * Cleave (other) Cleave may refer to: *Cleave (surname) *Cleave (fiber), a controlled break in optical fiber *RAF Cleave, was an airfield in the north of Cornwall, England, May 1939 - No ...
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Fetal Development
Prenatal development () includes the development of the embryo and of the fetus during a viviparous animal's gestation. Prenatal development starts with fertilization, in the germinal stage of embryonic development, and continues in fetal development until birth. In human pregnancy, prenatal development is also called antenatal development. The development of the human embryo follows fertilization, and continues as fetal development. By the end of the tenth week of gestational age the embryo has acquired its basic form and is referred to as a fetus. The next period is that of fetal development where many organs become fully developed. This fetal period is described both topically (by organ) and chronologically (by time) with major occurrences being listed by gestational age. The very early stages of embryonic development are the same in all mammals, but later stages of development, and the length of gestation varies. Terminology In the human: Different terms are used to ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ...
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Gestation
Gestation is the period of development during the carrying of an embryo, and later fetus, inside viviparous animals (the embryo develops within the parent). It is typical for mammals, but also occurs for some non-mammals. Mammals during pregnancy can have one or more gestations at the same time, for example in a multiple birth. The time interval of a gestation is called the '' gestation period''. In obstetrics, ''gestational age'' refers to the time since the onset of the last menses, which on average is fertilization age plus two weeks. Mammals In mammals, pregnancy begins when a zygote (fertilized ovum) implants in the female's uterus and ends once the fetus leaves the uterus during labor or an abortion (whether induced or spontaneous). Humans In humans, pregnancy can be defined clinically or biochemically. Clinically, pregnancy starts from first day of the mother's last period. Biochemically, pregnancy starts when a woman's human chorionic gonadotropin (hCG) levels ...
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Nose
A nose is a protuberance in vertebrates that houses the nostrils, or nares, which receive and expel air for respiration alongside the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes through the pharynx, shared with the digestive system, and then into the rest of the respiratory system. In humans, the nose is located centrally on the face and serves as an alternative respiratory passage especially during suckling for infants. The protruding nose that completely separate from the mouth part is a characteristic found only in therian mammals. It has been theorized that this unique mammalian nose evolved from the anterior part of the upper jaw of the reptilian-like ancestors ( synapsids). Air treatment Acting as the first interface between the external environment and an animal's delicate internal lungs, a nose conditions incoming air, both as a function of thermal regulation and filtration during respiration, as well as ...
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Face
The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may affect the psyche adversely. Structure The front of the human head is called the face. It includes several distinct areas, of which the main features are: *The forehead, comprising the skin beneath the hairline, bordered laterally by the temples and inferiorly by eyebrows and ears *The eyes, sitting in the orbit and protected by eyelids and eyelashes * The distinctive human nose shape, nostrils, and nasal septum *The cheeks, covering the maxilla and mandibula (or jaw), the extremity of which is the chin *The mouth, with the upper lip divided by the philtrum, sometimes revealing the teeth Facial appearance is vital for human recognition and communication. Facial muscles in humans allow expression of emotions. The face is itself a highly ...
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Cell Migration
Cell migration is a central process in the development and maintenance of multicellular organisms. Tissue formation during embryonic development, wound healing and immune responses all require the orchestrated movement of cells in particular directions to specific locations. Cells often migrate in response to specific external signals, including chemical signals and mechanical signals. Errors during this process have serious consequences, including intellectual disability, vascular disease, tumor formation and metastasis. An understanding of the mechanism by which cells migrate may lead to the development of novel therapeutic strategies for controlling, for example, invasive tumour cells. Due to the highly viscous environment (low Reynolds number), cells need to continuously produce forces in order to move. Cells achieve active movement by very different mechanisms. Many less complex prokaryotic organisms (and sperm cells) use flagella or cilia to propel themselves. Eukaryot ...
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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 ...
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