407 Mutation in SASH1 causes human skin hyperpigmentation
نویسندگان
چکیده
منابع مشابه
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation
p53-Transcriptional-regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the POMC/α-MSH productions induced by ultraviolet (UV) and is associated with UV-independent pathological pigmentation. When identifying the causative gene of dy...
متن کاملp53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation
We previously reported that three point mutations in SASH1 and mutated SASH1 promote melanocyte migration in dyschromatosis universalis hereditaria (DUH) and a novel p53/POMC/Gαs/SASH1 autoregulatory positive feedback loop is regulated by SASH1 mutations to induce pathological hyperpigmentation phenotype. However, the underlying mechanism of molecular regulation to cause this hyperpigmentation ...
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To the Editor: Postinflammatory hyperpigmentation (PIH) is an acquired hypermelanosis, which occurs after inflammation, trauma, or therapeutic interventions. PIH presents as irregular darkly pigmented macules that can persist for months or even years. PIH occurs more frequently in the darker Fitzpatrick skin types IV to VI, for instance, found in individuals from Africa, Asia, and South America...
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A 65-year old patient developed a sacral decubitus ulcer with osteomyelitis after a jaw reconstruction for osteonecrosis of the jaw. (Figure 1B illustrates the skin color just before start of tigecycline treatment). Based on cultures, the unfavourable evolution of the wounds, and her β-lactam allergy, tigecycline was given for a total of 102 days. After 2.5 months of treatment, a progressive br...
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Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2016
ISSN: 0022-202X
DOI: 10.1016/j.jid.2016.02.441