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• W2063334918 abstract "Many specific gene products are sequentially made and utilized by the melanocyte as it emigrates from its embryonic origin, migrates into specific target sites, synthesizes melanin(s) within a specialized organelle, transfers pigment granules to neighboring cells, and responds to various exogenous cues. A mutation in many of the respective encoding genes can disrupt this process of melanogenesis and can result in hypopigmentary disorders. Following are examples highlighting this scenario. A subset of neural crest derived cells emigrate from the dorsal surface of the neural tube, become committed to the melanoblast lineage, and are targeted along the dorsal lateral pathway. The specific transcription factors PAX3 and MITF (microphthalmia transcription factor) appear to play a regulatory role in early embryonic development of the pigment system and in associated diseases (the Waardenburg syndromes). During the subsequent development and commitment of the melanoblast, concomitant expression of the receptors for fibroblasts growth factor (FGFR2), endothelin-B (EDNRB), and steel factor (cKIT) also appears essential for the continued survival of migrating melanoblasts. Lack or dysfunction of these receptors result in Apert syndrome, Hirschsprung syndrome and piebaldism, respectively. Once the melanocyte resides in its target tissue, a plethora of melanocyte specific enzymes and structural proteins are coordinately expressed to form the melanosome and to convert tyrosine to melanin within it. Mutations in the genes encoding these proteins results in a family of congenital hypopigmentary diseases called oculocutaneous albinism (OCA). The tyrosinase gene family of proteins (tyrosinase, TRP1, and TRP2) regulate the type of eumelanin synthesized and mutations affecting them result in OCA1, OCA3, and slaty (in the murine system), respectively. The P protein, with 12 transmembrane domains localized to the melanosome, has no assigned function as of yet but is responsible for OCA2 when dysfunctional. There are other genetically based syndromes, phenotypically resembling albinism, in which the synthesis of pigmented melanosomes, as well as specialized organelles of other cell types, is compromised. The Hermansky-Pudlak syndrome (HPS) and the Chediak-Higashi syndrome (CHS) are two such disorders. Eventually, the functional melanocyte must be maintained in the tissue throughout life. In some cases it is lost either normally or prematurely. White hair results in the absence of melanocytes repopulating the germinative hair follicle during subsequent anagen stages. Vitiligo, in contrast, results from the destruction and removal of the melanocyte in the epidermis and mucous membranes." @default.
• W2063334918 created "2016-06-24" @default.
• W2063334918 creator A5042729967 @default.
• W2063334918 creator A5088236650 @default.
• W2063334918 date "1997-02-01" @default.
• W2063334918 modified "2023-10-12" @default.
• W2063334918 title "Molecular Basis of Congenital Hypopigmentary Disorders in Humans: A Review" @default.
• W2063334918 cites W134957199 @default.
• W2063334918 cites W1492110909 @default.
• W2063334918 cites W1498389773 @default.
• W2063334918 cites W1519510465 @default.
• W2063334918 cites W1554730907 @default.
• W2063334918 cites W168978644 @default.
• W2063334918 cites W1774541230 @default.
• W2063334918 cites W1794896472 @default.
• W2063334918 cites W1850687781 @default.
• W2063334918 cites W1862567903 @default.
• W2063334918 cites W1924380893 @default.
• W2063334918 cites W1970534138 @default.
• W2063334918 cites W1973439201 @default.
• W2063334918 cites W1974268067 @default.
• W2063334918 cites W1980771298 @default.
• W2063334918 cites W1981974890 @default.
• W2063334918 cites W1982526262 @default.
• W2063334918 cites W1985268058 @default.
• W2063334918 cites W1985696079 @default.
• W2063334918 cites W1989494683 @default.
• W2063334918 cites W1992244297 @default.
• W2063334918 cites W1995045750 @default.
• W2063334918 cites W1996881773 @default.
• W2063334918 cites W1997895697 @default.
• W2063334918 cites W1998477391 @default.
• W2063334918 cites W1998733964 @default.
• W2063334918 cites W2001517274 @default.
• W2063334918 cites W2002592796 @default.
• W2063334918 cites W2004619982 @default.
• W2063334918 cites W2006399231 @default.
• W2063334918 cites W2010091519 @default.
• W2063334918 cites W2012606416 @default.
• W2063334918 cites W2013395002 @default.
• W2063334918 cites W2013944173 @default.
• W2063334918 cites W2016501141 @default.
• W2063334918 cites W2018139276 @default.
• W2063334918 cites W2019432665 @default.
• W2063334918 cites W2019976793 @default.
• W2063334918 cites W2020404856 @default.
• W2063334918 cites W2021588022 @default.
• W2063334918 cites W2022083096 @default.
• W2063334918 cites W2022490047 @default.
• W2063334918 cites W2024875426 @default.
• W2063334918 cites W2027810940 @default.
• W2063334918 cites W2030721889 @default.
• W2063334918 cites W2033894049 @default.
• W2063334918 cites W2037695813 @default.
• W2063334918 cites W2037825606 @default.
• W2063334918 cites W2042375386 @default.
• W2063334918 cites W2043471588 @default.
• W2063334918 cites W2045593483 @default.
• W2063334918 cites W2046503819 @default.
• W2063334918 cites W2059287983 @default.
• W2063334918 cites W2060209491 @default.
• W2063334918 cites W2061437892 @default.
• W2063334918 cites W2062423918 @default.
• W2063334918 cites W2063436204 @default.
• W2063334918 cites W2064934740 @default.
• W2063334918 cites W2068673347 @default.
• W2063334918 cites W2072910804 @default.
• W2063334918 cites W2074553285 @default.
• W2063334918 cites W2075990052 @default.
• W2063334918 cites W2078772015 @default.
• W2063334918 cites W2079266222 @default.
• W2063334918 cites W2081462173 @default.
• W2063334918 cites W2082651056 @default.
• W2063334918 cites W2083186952 @default.
• W2063334918 cites W2083351769 @default.
• W2063334918 cites W2088471793 @default.
• W2063334918 cites W2089566363 @default.
• W2063334918 cites W2090364563 @default.
• W2063334918 cites W2091643502 @default.
• W2063334918 cites W2098342899 @default.
• W2063334918 cites W2099410622 @default.
• W2063334918 cites W2100021877 @default.
• W2063334918 cites W2104281222 @default.
• W2063334918 cites W2112811492 @default.
• W2063334918 cites W2116306988 @default.
• W2063334918 cites W2129884189 @default.
• W2063334918 cites W2140922568 @default.
• W2063334918 cites W2144809232 @default.
• W2063334918 cites W2145297890 @default.
• W2063334918 cites W2148586815 @default.
• W2063334918 cites W2149277955 @default.
• W2063334918 cites W2156638024 @default.
• W2063334918 cites W2158457426 @default.
• W2063334918 cites W2170844178 @default.
• W2063334918 cites W2215211951 @default.
• W2063334918 cites W2338153570 @default.
• W2063334918 cites W2395939399 @default.
• W2063334918 cites W2416682908 @default.

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