Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]
, 2009 Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen
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Indian Journal of Dermatology, 2014 Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family
Shyam Verma +5 more
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In Vivo Multimodal Imaging of Drusenoid Lesions in Rhesus Macaques. [PDF]
, 2017 Nonhuman primates are the only mammals to possess a true macula similar to humans, and spontaneously develop drusenoid lesions which are hallmarks of age-related macular degeneration (AMD).
Cunefare, David +8 more
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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family [PDF]
, 2016 Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations ...
Aquino, Sibele Nascimento de +8 more
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Prevalence of age-related macular degeneration in Nakuru, Kenya: a cross-sectional population-based study. [PDF]
, 2013 BACKGROUND: Diseases of the posterior segment of the eye, including age-related macular degeneration (AMD), have recently been recognised as the leading or second leading cause of blindness in several African countries.
Bastawrous, Andrew +5 more
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Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome) [PDF]
, 1984 Schmidt syndrome (PGA syndrome type II) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred.
Biegel, Angenieta A. +4 more
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A case of iatrogenic linear streaky hypopigmentation mimicking vitiligo
Pigment InternationalIntralesional corticosteroid (I/L CS) is a frequently used therapy in dermatology that can seldom cause linear hypopigmentation. Very rarely this linear hypopigmentation may present as multiple streaks.
Vibhu Mendiratta +2 more
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Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]
, 2020 A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K +4 more
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Molecules, 2017 Tyrosinase is the rate-limiting enzyme critical for melanin synthesis. It controls pigmentation in the skin. Activation of tyrosinase is currently the most common approach in the development of tanning and haircare products.
You Chul Chung +6 more
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Melasma-like hyperpigmentation: A rare side effect of imatinib mesylate
Journal of the Scientific Society, 2023 Imatinib mesylate is an oral tyrosine kinase inhibitor used chiefly to treat chronic myeloid leukemia. In the literature, hypopigmentation is a commonly reported side effect of imatinib therapy; however, the cases of melasma-like hyperpigmentation due to
Shreya Agrawal +3 more
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