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Related Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Articles linked to this work by shared authors, journal, and citation graph.

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A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells.

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<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.

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Dyadic adjustment and quality of life in albinism:a pilot study on their shared lived experiences with their loved ones.

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Related Experiment Video

Updated: Jan 10, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
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Recent advances in albinism.

Fanny Morice-Picard1, Modibo Diallo2, Benoit Arveiler3

  • 1Department of Dermatology, Bordeaux University Hospital, Bordeaux, France.

Presse Medicale (Paris, France : 1983)
|November 28, 2025
PubMed
Summary
This summary is machine-generated.

Albinism, a genetic disorder, presents diverse clinical features and challenges our understanding of its monogenic basis. Recent advances explore its epidemiology, genetics, and pathophysiology for better patient care.

Keywords:
AlbinismCellular biologyDermatologyGeneticsMelaninMelanosomeOphthalmologyPigmentation

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Area of Science:

  • Genetics and Cell Biology
  • Ophthalmology
  • Medical Science

Background:

  • Albinism, despite being long-described, remains poorly understood.
  • Clinical presentations vary significantly across and within subtypes.
  • The purely monogenic nature of albinism is increasingly debated.

Purpose of the Study:

  • To review recent advances in albinism research.
  • To explore protein functions and pathophysiological consequences of gene alterations.
  • To investigate the link between defective melanogenesis and neural retina dysfunction.

Main Methods:

  • Literature review focusing on recent advances.
  • Analysis of epidemiological data.
  • Synthesis of findings in genetics, cell biology, and pathophysiology.

Main Results:

  • The review covers key aspects including epidemiology, genetics, clinical characterization, cell biology, pathophysiology, psycho-sociology, and therapeutic approaches.
  • Recent research questions the monogenic inheritance model.
  • The link between melanogenesis defects and neural retina dysfunction is a key area of investigation.

Conclusions:

  • A comprehensive understanding of albinism requires exploring its multifaceted aspects.
  • Further research into gene function and pathophysiology is crucial for patient care.
  • Interdisciplinary approaches are essential for advancing albinism management and treatment.