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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 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 ... [...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'' is a person who is entitled to receive a share of the deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Effector (biology)
In biochemistry, an effector molecule is usually a small molecule that selectively binds to a protein and regulates its biological activity. In this manner, effector molecules act as ligands that can increase or decrease enzyme activity, gene expression, or cell signaling. Effector molecules can also directly regulate the activity of some mRNA molecules ( riboswitches). Other examples of effector functions in biochemistry include hormone signaling and immune response. In some cases, specific proteins serve the same role as effector molecules (note: small molecules refers to organic compounds similar in size to amino acids or RNA strands. Most effector molecules are therefor much smaller than individual proteins, which consist of many amino acids). One example of this is in cellular signal transduction cascades. The term ''effector'' is used in other fields of biology. For instance, the effector end of a neuron is the terminus where an axon makes contact with the muscle or ... [...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] |
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: __NOTOC__ People and fictional characters * Claude (given name), a list of people and fictional characters * Claude (surname), a list of people * Claude Lorrain (c. 1600–1682), French landscape painter, draughtsman and etcher traditionally called just "Claude" in English * Madame Claude, French brothel keeper Fernande Grudet (1923–2015) Places * Claude, Texas, a city * Claude, West Virginia, an unincorporated community Other uses * Allied reporting name of the Mitsubishi A5M Japanese carrier-based fighter aircraft * Claude (alligator) Claude is an albino alligator ('' Alligator mississippiensis'') at the California Academy of Sciences. Claude lacks the pigment melanin, resulting in colorless skin, and he has poor eyesight associated with his albinism. Background Claude was ha ..., an albino alligator at the California Academy of Sciences See also * Claude's syndrome, a form of brainstem stroke syndrome {{disambig, geo ... [...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 color ... [...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] |
Griscelli Syndrome Type 2
Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Presentation All types of Griscelli syndrome have distinctive skin and hair coloring. Type 1 is associated with neurological abnormalities. These include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities. Type 2 - unlike type 1 - is not associated with primary neurological disease but is associated with an uncontrolled T lymphocyte expansion and macrophage activation syndrome. It is often associated with the hemophagocytic syndrome. This latter condition may be fatal in the absence of bone marrow transplantation. Persons with type ... [...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 (2 ... [...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 trafficking. It is associated with 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 ada .... See also * Griscelli syndrome References External links Disturbances of human pigmentation Cytoskeletal defects Rare syndromes {{Cutaneous-condition-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 Dr. 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 Medici ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
