MITF and UV responses in skin: From pigmentation to addiction

NT Nguyen, DE Fisher - Pigment cell & melanoma research, 2019 - Wiley Online Library
Ultraviolet radiation (UVR) has numerous effects on skin, including DNA damage, tanning,
vitamin D synthesis, carcinogenesis, and immunomodulation. Keratinocytes containing …

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

CR Marçon, M Maia - Anais brasileiros de dermatologia, 2019 - SciELO Brasil
Oculocutaneous albinism is an autosomal recessive disease caused by the complete
absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or …

Global skin disease morbidity and mortality: an update from the global burden of disease study 2013

C Karimkhani, RP Dellavalle, LE Coffeng… - JAMA …, 2017 - jamanetwork.com
Importance Disability secondary to skin conditions is substantial worldwide. The Global
Burden of Disease Study 2013 includes estimates of global morbidity and mortality due to …

Racial differences in cancer susceptibility and survival: more than the color of the skin?

BC Özdemir, GP Dotto - Trends in cancer, 2017 - cell.com
Epidemiological studies point to race as a determining factor in cancer susceptibility. In US
registries recording cancer incidence and survival by race (distinguishing 'black versus …

Ophthalmological manifestations of oculocutaneous and ocular albinism: current perspectives

MM Neveu, SK Padhy, S Ramamurthy… - Clinical …, 2022 - Taylor & Francis
Albinism describes a heterogeneous group of genetically determined disorders
characterized by disrupted synthesis of melanin and a range of developmental ocular …

Current and emerging treatments for albinism

S Liu, HJ Kuht, EH Moon, GDE Maconachie… - Survey of …, 2021 - Elsevier
Albinism is a group of rare inherited disorders arising from impairment of melanin
biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and …

Pigmentation and vision: Is GPR143 in control?

BS McKay - Journal of neuroscience research, 2019 - Wiley Online Library
Albinism, typically characterized by decreased melanin synthesis, is associated with
significant visual deficits owing to developmental changes during neurosensory retina …

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B

DR Adams, S Menezes, R Jauregui, ZM Valivullah… - JCI …, 2019 - pmc.ncbi.nlm.nih.gov
BACKGROUND. Oculocutaneous albinism (OCA) results in reduced melanin synthesis, skin
hypopigmentation, increased risk of UV-induced malignancy, and developmental eye …

Management of albinism: French guidelines for diagnosis and care

E Moreno‐Artero, F Morice‐Picard… - Journal of the …, 2021 - Wiley Online Library
Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified
to date, that affect melanin production or transport in the skin, hair and eyes. Patients present …

Factors affecting quality of life for people living with albinism in Botswana

EE Anshelevich, KI Mosojane, L Kenosi… - Dermatologic …, 2021 - derm.theclinics.com
Methods We conducted qualitative semistructured interviews of PWA in Botswana.
Participants were selected by convenience sampling from a larger cohort of 50 PWA older …