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Elejalde Syndrome
Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound central nervous system dysfunction, no immune defects, and hair with a metallic silvery sheen.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . The changes to hair and skin pigmentation are associated with altered melanosome trafficking. It is associated with MYO5A. See also * Griscelli syndrome Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of ... References External links Disturbances of human pigmentation Cytoskeletal defects Rare syndromes {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pigmentation Disorder
Pigmentation disorders are disturbances of human skin color. There may be a loss or reduction, which may be related to loss of melanocytes or the inability of melanocytes to produce melanin or transport melanosomes correctly. Most pigmentation disorders involve the underproduction or overproduction of melanin Melanin (; from el, μέλας, melas, black, dark) is a broad term for a group of natural pigments found in most organisms. Eumelanin is produced through a multistage chemical process known as melanogenesis, where the oxidation of the amino .... References External links {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Central Nervous System Disease
Central nervous system diseases, also known as central nervous system disorders, are a group of neurological disorders that affect the structure or function of the brain or spinal cord, which collectively form the central nervous system (CNS). These disorders may be caused by such things as infection, injury, blood clots, age related degeneration, cancer, autoimmune disfunction, and birth defects. The symptoms vary widely, as do the treatments. Central nervous system tumors are the most common forms of pediatric cancer. Brain tumors are the most frequent and have the highest mortality. Some disorders, such as substance addiction, autism, and ADHD may be regarded as CNS disorders, though the classifications are not without dispute. Signs and symptoms Every disease has different signs and symptoms. Some of them are persistent headache; pain in the face, back, arms, or legs; an inability to concentrate; loss of feeling; memory loss; loss of muscle strength; tremors; seizures; incr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immune Disorder
An immune disorder is a dysfunction of the immune system. These disorders can be characterized in several different ways: * By the component(s) of the immune system affected * By whether the immune system is overactive or underactive * By whether the condition is congenital or acquired According to the International Union of Immunological Societies, more than 150 primary immunodeficiency diseases (PIDs) have been characterized. However, the number of acquired immunodeficiencies exceeds the number of PIDs. It has been suggested that most people have at least one primary immunodeficiency. Due to redundancies in the immune system, though, many of these are never detected. Autoimmune diseases An autoimmune disease is a condition arising from an abnormal immune response to a normal body part. There are at least 80 types of autoimmune diseases. Nearly any body part can be involved. Common symptoms include low-grade fever and feeling tired. Often symptoms come and go. List of some au ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanosome
A melanosome is an organelle found in animal cells and is the site for synthesis, storage and transport of melanin, the most common light-absorbing pigment found in the animal kingdom. Melanosomes are responsible for color and photoprotection in animal cells and tissues. Melanosomes are synthesised in the skin in melanocyte cells, as well as the eye in choroidal melanocytes and retinal pigment epithelial (RPE) cells. In lower vertebrates, they are found in melanophores or chromatophores. Structure Melanosomes are relatively large organelles, measuring up to 500 nm in diameter. They are bound by a bilipid membrane and are, in general, rounded, sausage-like, or cigar-like in shape. The shape is constant for a given species and cell type. They have a characteristic ultrastructure on electron microscopy, which varies according to the maturity of the melanosome, and for research purposes a numeric staging system is sometimes used. Synthesis of melanin Melanosomes are dependent ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MYO5A
Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the ''MYO5A'' gene. Structure In the presence of cargo adapters and calcium, unconventional myosin Va is present in an elongated and active state. It has an N-terminal head domain and a C-terminal tail domain. The actin-binding head (N-Terminal) is an ATP-dependent motor domain that transmits changes from the active site to the light chain lever arm. The C-terminal globular domain (GB) decides the Myosin class and moderate the cargo transport. Also, the GB interacts with other cargo specific proteins. Myosin Va is highly expressed in neurons and melanocytes. Interactions MYO5A has been shown to interact with DYNLL1, RAB27A, DYNLL2, RPGRIP1L,Assis, L. H. P. et al. The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L. Sci. Rep. 7, 43692; doi: 10.1038/srep43692 (201 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Griscelli Syndrome
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities. Signs and symptoms Griscelli syndrome is defined by the characteristic hypopigmentation, with frequent pyogenic infection, enlargement of the liver and spleen, a low blood neutrophil level, low blood platelet level, and immunodeficiency. Very often there is also impaired nat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disturbances Of Human Pigmentation
Disturbance and its variants may refer to: Math and science * Disturbance (ecology), a temporary change in average environmental conditions that causes a pronounced change in an ecosystem * Disturbance (geology), linear zone of faults and folds * Sudden ionospheric disturbance, an abnormally high plasma density in the D region of the ionosphere caused by a solar flare * Disturbance (statistics), the deviation of the observed value from the (unobservable) true function value * Serious emotional disturbance, a mental illness Arts and media Film * Disturbance (2014 film), a section, and former title, of the film ''Tales of the Supernatural'' * ''Disturbance'' (1942 film), an Italian drama film * ''Domestic Disturbance'', a 2001 American psychological thriller film Music * ''Disturbance'' (Concord Dawn album), 2001 * ''Disturbance'' (Test Dept. album), 2019 * "Disturbance" (BoA song) , a 2013 digital single by South Korean singer BoA * "Disturbance," a song by Eyehategod f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytoskeletal Defects
The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is composed of similar proteins in the various organisms. It is composed of three main components, microfilaments, intermediate filaments and microtubules, and these are all capable of rapid growth or disassembly dependent on the cell's requirements. A multitude of functions can be performed by the cytoskeleton. Its primary function is to give the cell its shape and mechanical resistance to deformation, and through association with extracellular connective tissue and other cells it stabilizes entire tissues. The cytoskeleton can also contract, thereby deforming the cell and the cell's environment and allowing cells to migrate. Moreover, it is involved in many cell signaling pathways and in the uptake of extracellular material (endocytosis), the seg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
