| 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 |
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| D011627 |
Puberty |
A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT. |
Puberties |
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| D011629 |
Puberty, Precocious |
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE. |
Familial Precocious Puberty,Idiopathic Sexual Precocity,Precocious Puberty,Precocious Puberty, Central,Precocious Puberty, Male Limited,Precocious Puberty, Male-Limited,Pubertas Praecox,Sexual Precocity,Testotoxicosis,Central Precocious Puberties,Central Precocious Puberty,Familial Precocious Puberties,Idiopathic Sexual Precocities,Male-Limited Precocious Puberties,Male-Limited Precocious Puberty,Praecox, Pubertas,Precocious Puberties,Precocious Puberties, Central,Precocious Puberties, Familial,Precocious Puberties, Male-Limited,Precocious Puberty, Familial,Precocities, Idiopathic Sexual,Precocities, Sexual,Precocity, Idiopathic Sexual,Precocity, Sexual,Puberties, Central Precocious,Puberties, Familial Precocious,Puberties, Male-Limited Precocious,Puberties, Precocious,Puberty, Central Precocious,Puberty, Familial Precocious,Puberty, Male-Limited Precocious,Sexual Precocities,Sexual Precocities, Idiopathic,Sexual Precocity, Idiopathic |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D015398 |
Signal Transduction |
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway. |
Cell Signaling,Receptor-Mediated Signal Transduction,Signal Pathways,Receptor Mediated Signal Transduction,Signal Transduction Pathways,Signal Transduction Systems,Pathway, Signal,Pathway, Signal Transduction,Pathways, Signal,Pathways, Signal Transduction,Receptor-Mediated Signal Transductions,Signal Pathway,Signal Transduction Pathway,Signal Transduction System,Signal Transduction, Receptor-Mediated,Signal Transductions,Signal Transductions, Receptor-Mediated,System, Signal Transduction,Systems, Signal Transduction,Transduction, Signal,Transductions, Signal |
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| D051880 |
Receptors, Notch |
A family of conserved cell surface receptors that contain EPIDERMAL GROWTH FACTOR repeats in their extracellular domain and ANKYRIN REPEATS in their cytoplasmic domains. The cytoplasmic domains are released upon ligand binding and translocate to the CELL NUCLEUS, where they act as transcription factors. |
Notch Protein,Notch Receptor,Notch Receptors,Notch Proteins,Protein, Notch,Receptor, Notch |
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