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Showing 5 out of a total of 5 results for community: Atlas of Genetics and Cytogenetics in Oncology and Haematology. (0.005 seconds)
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(Jean-Loup Huret (Editor-in-Chief), 2016)Review on Oculocutaneous Albinism...
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(ARMGHM - Atlas Génétique des Cancers, 2017)C10orf11 encodes a leucine-rich repeat protein having a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCAVII)....
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(ARMGHM - Atlas Génétique des Cancers, 2017)TYRP1 gene, having a chromosomal location of 9p23, encodes a melanosomal enzyme belonging to the tyrosinase family. TYRP1 catalyses oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. TYRP1 is also thought to play a role in stabilizing tyrosinase and modulates its catalytic activity, in maintenance of melanosome structure, affecting melanocyte proliferation and melanocyte cell death. Defects in this gene cause oculocutaneous albinism type III; OCA III (also known as rufous oculocutaneous albinism)....
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(ARMGHM - Atlas Génétique des Cancers, 2017)SLC24A5 is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein. Sequence variations in this gene have been associated with differences in skin pigmentation, and the defective protein leads to Oculocutaneous albinism type VI, OCA6....
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(ARMGHM - Atlas Génétique des Cancers, 2016)OCA2 gene (OCA2), having a chromosomal location of 15q12-q13, encodes an integral membrane transporter protein playing a role in regulating the pH of melanosomes. OCA2 is hypothesized to be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Defects in this gene are the cause of oculocutaneous albinism type II; OCA II....
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