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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 associated 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 natu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequeathing private property and/or debts can be performed by a testator via will, as attested by a notary or by other lawful means. Terminology In law, an "heir" ( heiress) is a person who is entitled to receive a share of property from a decedent (a person who died), subject to the rules of inheritance in the jurisdiction where the decedent was a citizen, or where the decedent died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid (for example, some states do not recognise handwritten wills as valid, or only in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene. Function The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. The RAB27A gene is regulated by the Microphthalmia-associated transcription factor. Interactions RAB27A has been shown to interact with: * EXPH5, * MYO5A, * RPH3AL * SYTL1, and * SYTL2 Synaptotagmin-like 2, also known as SYTL2, is a human 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 f .... See al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disturbances Of Human Pigmentation
Disturbance and its variants may refer to: Math and science * Disturbance (archaeology), any change to an archaeological site due to events after the site was laid down * 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 * Disturbance (statistics), the deviation of the observed value from the (unobservable) true function value * Serious emotional disturbance, a mental illness * Sudden ionospheric disturbance, an abnormally high plasma density in the D region of the ionosphere caused by a solar flare Arts and media Film * Disturbance (2014 film), a section, and former title, of the film ''Tales of the Supernatural'' * Disturbance (1942 film), ''Disturbance'' (1942 film), an Italian drama film * ''Domestic Disturbance'', a 2001 American psychological thriller film Literature * ''Disturbance: Surviving Charlie Hebdo'', a 2018 book by Philippe Lanço ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chédiak–Higashi Syndrome
Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak–Higashi syndrome, the lysosomal trafficking regulator (LYST) gene is mutated, leading to disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in white blood cells. This results in defective white blood cell function with enlarged vesicles. This syndrome also leads to neutropenia and phagocyte bactericidal dysfunction due to impaired chemotaxis. Deficiency in serotonin and adenosine-phosphate-containing granules in platelets causes impaired platelet aggregation, leading to prolonged bleeding time. Thus, patients are susceptible to infections and often present with oculo-cutaneous albinism and coagulation defects. Patients often p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Claude Griscelli
Claude may refer to: People and fictional characters * Claude (given name), a list of people and fictional characters * Claude (surname), a list of people * Claude Callegari (1962–2021), English Arsenal supporter * Claude Debussy (1862–1918), French composer * Claude Kiambe (born 2003), Congolese-born Dutch singer * Claude Lévi-Strauss (1908–2009), French anthropologist and ethnologist * Claude Lorrain (c. 1600–1682), French landscape painter, draughtsman and etcher traditionally called just "Claude" in English * Claude Makélélé (born 1973), French football manager * Claude McKay (1890–1948), Jamaican-American writer and poet * Claude Monet (1840–1926), French painter * Claude Rains (1889–1967), British-American actor * Claude Shannon (1916–2001), American mathematician, electrical engineer and computer scientist * Madame Claude (1923–2015), French brothel keeper Fernande Grudet Places * Claude, Texas, a city * Claude, West Virginia, an unincorporated community ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MLPH
Melanophilin is a carrier protein which in humans is encoded by the ''MLPH'' gene. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. Function This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. In melanocytic cells MLPH gene expression may be regulated by MITF. Clinical significance A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Mutations in melanophilin cause the "dilute" coat colo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Griscelli Syndrome Type 3
Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with hypopigmentation.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . 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 di ... References External links Disturbances of human pigmentation Syndromes {{Cutaneous-condition-stub ... [...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, and Rab3A. Clinical significance * Defects in Myosin Va are associated with Griscelli syndrome type 1, also known as Elejalde syndrome a rare autos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 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 photoprotectio ... trafficking. It is associated with MYO5A. See also * Griscelli syndrome References External links Disturbances of human pigmentation Cytoskeletal defects Rare syndromes {{Genodermatoses-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ( ... [...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 dep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
