Biomaterial Database

[Human albinism: clinical, genetic, cellular, biochemical and molecular aspects]. 2000

R Aquaron

Laboratoire de Biochimie et de Biologie Moléculaire, Faculté de Médecine, 27, Bd Jean Moulin, 13385 Marseille, France. robert.aquaron@medecine.univ-mrs.fr

UI	MeSH Term	Description	Entries
D008544	Melanocytes	Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.	Melanocyte
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D006200	Hair Color	Color of hair or fur.	Color, Hair,Colors, Hair,Hair Colors
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000417	Albinism	General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
D012880	Skin Pigmentation	Coloration of the skin.	Skin Color,Skin Tone,Color, Skin,Colors, Skin,Pigmentation, Skin,Pigmentations, Skin,Skin Colors,Skin Pigmentations,Skin Tones,Tone, Skin,Tones, Skin
D014442	Monophenol Monooxygenase	An enzyme of the oxidoreductase class that catalyzes the reaction between L-tyrosine, L-dopa, and oxygen to yield L-dopa, dopaquinone, and water. It is a copper protein that acts also on catechols, catalyzing some of the same reactions as CATECHOL OXIDASE. EC 1.14.18.1.	Dopa Oxidase,Phenoloxidase,Tyrosinase,Cresolase,Phenol Oxidase,Phenoloxidase A,Phenoloxidase B,Monooxygenase, Monophenol,Oxidase, Dopa,Oxidase, Phenol
D020413	3' Untranslated Regions	The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.	3'UTR,3' UTR,3' Untranslated Region,3' UTRs,3'UTRs,Region, 3' Untranslated,Regions, 3' Untranslated,UTR, 3',UTRs, 3',Untranslated Region, 3',Untranslated Regions, 3'