KIT gene mutation causing piebaldism associated with multiple Café Au-Lait like macules and freckling: Delineating a cause of this coexistence [PDF]
Indian Dermatology Online Journal, 2023 Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait ...
Shibhani S Hegde +2 more
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The Phenomenon of Piebaldism in Sharks: A Review of Global Sightings and Patterns [PDF]
Ecology and EvolutionChromatic disorders in elasmobranchs (sharks and rays) have been reported in several species, but little is known about their true abundance or consequences for survival and fitness.
Darren A. Whitehead +9 more
doaj +2 more sources
Novel pathogenic variants in KIT gene in three Chinese piebaldism patients [PDF]
Frontiers in Medicine, 2022 BackgroundPiebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported.MethodsTo identify KIT gene mutations in three pediatric piebaldism ...
Chen Wang +5 more
doaj +2 more sources
Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis). [PDF]
PLoS ONE, 2017 Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain ...
Guy D Eroh +10 more
doaj +4 more sources
Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review [PDF]
PharmaceuticalsRare diseases are conditions that affect up to 65 people per 100,000 individuals. They are also known as “orphan diseases”, because they attract limited interest from researchers and pharmaceutical industries.
Beatriz de Araujo Oliveira +4 more
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YY1 regulates melanocyte development and function by cooperating with MITF. [PDF]
PLoS Genetics, 2012 Studies of coat color mutants have greatly contributed to the discovery of genes that regulate melanocyte development and function. Here, we generated Yy1 conditional knockout mice in the melanocyte-lineage and observed profound melanocyte deficiency and
Juying Li +10 more
doaj +8 more sources
Shadows in the forest: Uncovering unusual colouration records in mammals from the Ecuadorian Tropical Andes [PDF]
Biodiversity Data JournalVariations in colouration patterns have been reported in numerous wildlife species, particularly birds. However, the increased use of camera traps for wildlife monitoring has enabled the detection of elusive species and phenotypic variations that might ...
Elias Viteri-Basso +3 more
doaj +4 more sources
Assessment of Non-cultured Autologous Epidermal Cell Grafting Resuspended in Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism Lesions: A Randomized Clinical Trial [PDF]
Acta Dermato-Venereologica, 2021 The aim of this study was to assess the efficacy of non-cultured autologous epidermal cell grafting resuspended in hyaluronic acid, performed using a ready-to-use kit, compared with hyaluronic acid alone (neutral comparator) for repigmenting vitiligo and
Antoine Bertolotti +6 more
doaj +2 more sources
Improving the diagnosis of renal tumours of young people through integrated molecular analysis [PDF]
Journal of Cancer Research and Clinical OncologyBackground Renal tumours account for one in twenty paediatric cancers, with Wilms tumour (WT) the most common in young children and renal cell carcinoma (RCC) predominating in adolescents and young adults.
Sarah M. Leiter +26 more
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Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice. [PDF]
PLoS ONEAmino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal ...
Gholson J Lyon +11 more
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