Showing 1 - 7 results of 7 for search '"Albinism in humans"', query time: 0.16s Refine Results
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    Genotyping Analysis of rs1799989 Single Nucleotide Polymorphism in TYR Gene Region in the Population of Isfahan, Iran by Saamaaneh Soheili, Sadeq Vallian Borujeni

    Published 2015-12-01
    “…Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to identify and introduce polymorphic markers located in the TYR gene region in the Iranian population. …”
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    Article
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    Malawian mothers’ experiences of raising children living with albinism: A qualitative descriptive study by Naomi Likumbo, Tania de Villiers, Una Kyriacos

    Published 2021-04-01
    “…Background: Albinism in humans is characterised by a reduced amount of pigment (melanin) present in the skin, hair follicles and the eye; approximately 7000–10 000 Malawians of all ages are affected. …”
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    Tyrp1 is the mendelian determinant of the Axolotl (Ambystoma mexicanum) copper mutant by Raissa F. Cecil, Lloyd Strohl, Maddie K. Thomas, James L. Schwartz, Nataliya Timoshevskaya, Jeramiah J. Smith, S. Randal Voss

    Published 2024-09-01
    “…This region included Tyrosinase-like Protein 1 (Tyrp1), a melanin synthesis protein that when mutated, is associated with lighter than black melanin coloration in animal models and oculocutaneous albinism in humans. Inspection of RNA-Seq reads identified a single nucleotide deletion that is predicted to change the coding frame, introduce a premature stop codon in exon 6 and yield a truncated Tyrp1 protein in copper individuals. …”
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    Mapping a research-advocacy-policy agenda on human rights and albinism: a mixed methods project by Sheryl Reimer-Kirkham, Barbara Astle, Ikponwosa Ero, Lori Beaman, Bonny Ibhawoh, Elvis Imafidon, Richard Sawatzky, Wisdom Tettey, Meghann Buyco, Emma Strobell

    Published 2024-01-01
    “…In this paper, we present the results of a mixed methods study undertaken to identify priorities for research, advocacy, and policy on albinism and human rights. Methods The first component was a synthesis of peer-reviewed and grey literatures at the nexus of albinism, spiritual/cultural beliefs and practices, and human rights. …”
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    Changes in brain morphology in albinism reflect reduced visual acuity by Bridge, H, Bridge, H, von dem Hagen, E, Davies, G, Chambers, C, Gouws, A, Hoffmann, M, Morland, AB, Morland, AB

    Published 2014
    “…Albinism, in humans and many animal species, has a major impact on the visual system, leading to reduced acuity, lack of binocular function and nystagmus. …”
    Journal article
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    Changes in brain morphology in albinism reflect reduced visual acuity. by Bridge, H, von dem Hagen, E, Davies, G, Chambers, C, Gouws, A, Hoffmann, M, Morland, AB

    Published 2014
    “…Albinism, in humans and many animal species, has a major impact on the visual system, leading to reduced acuity, lack of binocular function and nystagmus. …”
    Journal article