ZIC1
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ZIC1
ZIC1 is a member of the ''Zi''nc finger of the ''c''erebellum (ZIC) protein family. ZIC1 is classified as a ZIC protein due to conservation of the five C2H2 zinc fingers, which enables the protein to interact with DNA and proteins. ZIC1 is found in close genomic configuration in another member of this protein family, ZIC4. Correct function of these proteins is critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, if function of both ZIC1 and ZIC4 is lost (which can occur via an interstitial deletion due to their adjacent location) then this may result in the Dandy–Walker malformation. Interactions ZIC1 has been shown to interact with GLI1 and GLI3 Zinc finger protein GLI3 is a protein that in humans is encoded by the ''GLI3'' gene. This gene encodes a protein that belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding tra ...
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Dandy–Walker Malformation
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid. Most of those affected develop hydrocephalus within the first year of life, which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures. Other, less common symptoms are generally associated with comorbid genetic conditions and can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumours, other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or underdeveloped genitalia or kidneys. It is sometimes discovered in adolescents or adults due to mental health problems. DWM i ...
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GLI1
Zinc finger protein GLI1 also known as glioma-associated oncogene is a protein that in humans is encoded by the GLI1 gene. It was originally isolated from human glioblastoma cells. Function The Gli proteins are the effectors of Hedgehog (Hh) signaling and have been shown to be involved in cell fate determination, proliferation and patterning in many cell types and most organs during embryo development. In the developing spinal cord the target genes of Gli proteins, that are themselves transcription factors, are arranged into a complex gene regulatory network that translates the extracellular concentration gradient of Sonic hedgehog into different cell fates along the dorsoventral axis. The Gli transcription factors activate/inhibit transcription by binding to Gli responsive genes and by interacting with the transcription complex. The Gli transcription factors have DNA binding zinc finger domains which bind to consensus sequences on their target genes to initiate or suppress ...
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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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Interstitial Deletion
An interstitial space or interstice is a space between structures or objects. In particular, interstitial may refer to: Biology * Interstitial cell tumor * Interstitial cell, any cell that lies between other cells * Interstitial collagenase, enzyme that breaks the peptide bonds in collagen * Interstitial cystitis * Interstitium, the contiguous fluid-filled space existing between the skin and body organs * Interstitial fluid, a solution that bathes and surrounds the cells of multicellular animals * Interstitial granulomatous dermatitis * Interstitial infusion * Interstitial keratitis * Interstitial lung disease * Interstitial nephritis * Interstitial pregnancy Other uses To describe the spaces within particulate matter such sands, gravels, cobbles, grain, etc. that lie between the discrete particles. * Interstitial art * Interstitial condensation, in construction * Interstitial site, in chemistry * Interstitial defect, in chemistry * Interstitial television show, in televisio ...
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