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Global impact of climate change on persons with albinism: A human rights issue
Published 2023-01-01Get full text
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Genotyping Analysis of rs1799989 Single Nucleotide Polymorphism in TYR Gene Region in the Population of Isfahan, Iran
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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Malawian mothers’ experiences of raising children living with albinism: A qualitative descriptive study
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
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
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
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. …”
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Changes in brain morphology in albinism reflect reduced visual acuity.
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