ReviewAnnals of human genetics2025
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.
Review in Annals of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disorders.JCI insight · 2026Article
- Decoding Hyperpigmentation from Biological Mechanisms to Actives with Clinically Proven Topical Efficacy: A Narrative Review.Dermatology and therapy · 2026Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Skin, hair, and eye (oculocutaneous) color is due to melanin, a pigment produced by melanocytes. This review considers processes required for pigmentation and the complex genetic network that regulates them. The first requisite is migration of neural crest-derived melanoblasts, which populate various embryonic sites, then differentiate into melanocytes or seed stem cell niches. Differentiation is marked by expression of genes essential for melanogenesis, which takes place in melanosomes and involves conversion of tyrosine into melanin. Melanosome biogenesis requires premelanosome maturation through coordinated delivery of melanogenic enzymes such as tyrosinase (TYR), structural proteins, and transporters that establish an intraluminal environment conducive to melanogenesis. Sorting of proteins through endolysosomal pathways and delivery to melanosomes is facilitated by trafficking protein complexes. Finally, melanin is transferred to keratinocytes to protect against ultraviolet light. Numerous pigment-related disorders result from disruption of these pathways, including Waardenburg syndrome caused by melanoblast migration disruption, oculocutaneous albinism presenting with absent/reduced melanogenesis, and melanoma resulting from dysregulation of proliferation/survival. Genetic variants also determine normal color variation, which is pronounced across populations that, historically, lived in different geographical regions. This variation, shaped by genetic factors, environmental influences, and evolutionary pressures, underpins the wide range of pigmentation phenotypes seen today.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.