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FOXE3
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the ''FOXE3'' gene located on the short arm of chromosome 1. Function FOXE3 is a forkhead-box transcription factor which is involved in the proper formation of the ocular lens and is post-natally expressed in the lens epithelium. Development Foxe3, also known as Forkhead Box E3, is a transcription factor that is responsible for the formation of the lens placode, a precursor to the lens of the eye, and the lens itself. Foxe3 controls multiple processes during development of the lens including, the expression of Cryaα which controls the solubility of the crystalline protein complex in the developing lens. Reduced solubility can lead to potential cataract formation due to crystallization of the lens. Foxe3 also controls the regulation of Prox1, which is responsible for cell cycle progression. As Foxe3 expression downregulates, Prox1 expres ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOX Proteins
FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, Cellular differentiation, differentiation, and longevity. Many FOX proteins are important to embryonic development. FOX proteins also have pioneer factor, pioneering transcription activity by being able to bind condensed chromatin during cell differentiation processes. There are 50 different FOX genes encoding FOX proteins in humans that are further divided into 19 subdivisions based on conserved sequence similarity. The defining feature of FOX proteins is the fork head domain, forkhead box, a sequence of 80 to 100 amino acids forming a DNA motif, motif that binds to DNA. This forkhead motif is also known as the Winged-helix transcription factors, winged helix, due to the butterfly-like appearance of the loops in the protein structure of the domain. FOX proteins are a subgroup of the helix-turn-helix class of prote ... [...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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...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 (genetics), transcription of genetics, 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 Gene expression, expressed in the desired Cell (biology), 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 approximately 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 (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Segment Mesenchymal Dysgenesis
Anterior segment mesenchymal dysgenesis, or simply anterior segment dysgenesis, is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber. Pathophysiology Several gene mutations have been identified underlying these anomalies, with the majority of anterior segment dysgenesis genes encoding transcriptional regulators. In this review, the role of the anterior segment dysgenesis genes ''PITX2'' and ''FOXC1'' is considered in relation to the embryology of the anterior segment, the biochemical function of these prot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aphakia
Aphakia is the absence of the lens of the eye, due to surgical removal, such as in cataract surgery, a perforating wound or ulcer, or congenital anomaly. It causes a loss of ability to maintain focus ( accommodation), high degree of farsightedness ( hyperopia), and a deep anterior chamber. Complications include detachment of the vitreous or retina, and glaucoma. Babies are rarely born with aphakia. Occurrence most often results from surgery to remove a congenital cataract. Congenital cataracts usually develop as a result of infection of the fetus or genetic reasons. It is often difficult to identify the exact cause of these cataracts, especially if only one eye is affected. People with aphakia have relatively small pupils and their pupils dilate to a lesser degree. Causes Surgical removal of a lens, mainly in cataract surgery, is the most common cause of aphakia. Spontaneous traumatic absorption or congenital absence of lens matter is rare. Traumatic subluxation or disloca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerocornea
Sclerocornea is an extremely rare Birth defect, congenital anomaly of the human eye, eye, it is considered a form of Corneal opacity, congenital corneal opacity (CCO) with no clear gender bias, in which the cornea blends with sclera, having no Corneal limbus, clear-cut boundary. The extent of the resulting opacity varies from peripheral to total (''sclerocornea totalis''). While the exact historical origins of its documentation are unclear, studies on sclerocornea has long been recognized in ophthalmology as a rare but significant anomaly going as far back as the 1960's. The severe form is thought to be inherited in an autosomal recessive manner, but there may be another, milder form that is expressed in a dominant fashion. In some cases the patients also have abnormalities beyond the eye (Systemic disease, systemic), such as limb deformities and craniofacial and genitourinary defects. According to one tissue analysis performed after corneal transplantation, the sulfation pattern of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microphthalmia
Microphthalmia (Greek: , ), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present. Presentation Microphthalmia is a congenital disorder in which the globe of the eye is unusually small and structurally disorganized. While the axis of an adult human eye has an average length of about , a diagnosis of microphthalmia generally corresponds to an axial length below in adults. Additionally, the diameter of the cornea is about in affected newborns and in adults with the condition. The presence of a small eye within the orbit can be a normal incidental finding but in many cases it is atypical an ... [...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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
