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The retinal pigment epithelium (RPE) performs a number of functions essential for retinal health. RPE dysregulation and degeneration can occur in diseases. Methods to image the human RPE directly are limited, as it is only about 10 µm thick and situated between the photoreceptor outer segments and Bruch's membrane (BM).
View Article and Find Full Text PDFA patient with TPCN2-related hypopigmentation and ocular phenotype.
Eur J Hum Genet
January 2025
Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.
View Article and Find Full Text PDFA high-quality assembly revealing the PMEL gene for the unique plumage phenotype in Liancheng ducks.
Gigascience
January 2025
State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China.
Background: Plumage coloration is a distinctive trait in ducks, and the Liancheng duck, characterized by its white plumage and black beak and webbed feet, serves as an excellent subject for such studies. However, academic comprehension of the genetic mechanisms underlying duck plumage coloration remains limited. To this end, the Liancheng duck genome (GCA_039998735.
View Article and Find Full Text PDFEmerging Roles of Dermal Fibroblasts in Hyperpigmentation and Hypopigmentation: A Review.
J Cosmet Dermatol
January 2025
Department of Dermatology, Hangzhou Third People's Hospital, Zhejiang, Hangzhou, China.
Background: Skin pigmentation disorders may increase patients' psychological burdens. Consequently, they are increasingly attracting attention. Dermal fibroblasts have been shown to regulate pigmentation by secreting soluble factors.
View Article and Find Full Text PDFResearch progress on pathogenesis of skin pigmentation in chronic liver disease.
Biomol Biomed
December 2024
Department and Institute of Infectious Disease, Tongji Hospital, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Huazhong University of Science and Technology, Wuhan, China.
Chronic liver disease (CLD) is a significant global health concern that leads to increased morbidity and mortality, and is associated with skin pigmentation changes. Excessive facial pigmentation is a common characteristic of patients with CLD, although the exact mechanism underlying this phenomenon remains unclear. Melanin, which consists of eumelanin and pheomelanin, is synthesized in melanocytes.
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