ArticlePigment cell & melanoma research2012
Cellular and clinical report of new Griscelli syndrome type III cases.
Article in Pigment cell & melanoma research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 27 citations in OpenAlex.
- Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin.Biomolecules & therapeutics · 2023Article
- Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.Molecular genetics and genomics : MGG · 2023Review
- Identification of a NovelFrontiers in medicine · 2022Article
- Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome.Dermatopathology (Basel, Switzerland) · 2021Article
- Identification of MicroRNA TargetingBiomolecules · 2019Article
- Inhibitory effect of 2-methyl-naphtho[1,2,3-de]quinolin-8-one on melanosome transport and skin pigmentation.Scientific reports · 2016Article
- Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.The Journal of allergy and clinical immunology · 2015Article
- Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A.Pigment cell & melanoma research · 2014Article
- Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia-An Uncommon Association of a Rare Entity.Indian dermatology online journalArticle
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
The RAB27A/Melanophilin/Myosin-5a tripartite protein complex is required for capturing mature melanosomes in the peripheral actin network of melanocytes for subsequent transfer to keratinocytes. Mutations in any one member of this tripartite complex cause three forms of Griscelli syndrome (GS), each with distinct clinical features but with a similar cellular phenotype. To date, only one case of GS type III (GSIII), caused by mutations in the Melanophilin (MLPH) gene, has been reported. Here, we report seven new cases of GSIII in three distinct Arab pedigrees. All affected individuals carried a homozygous missense mutation (c.102C>T; p.R35W), located in the conserved Slp homology domain of MLPH, and had hypomelanosis of the skin and hair. We report the first cellular studies on GSIII melanocytes, which demonstrated that MLPH(R35W) causes perinuclear aggregation of melanosomes in melanocytes, typical for GS. Additionally, co-immunoprecipitation assays showed that MLPH(R35W) lost its interaction with RAB27A, indicating pathogenicity of the R35W mutation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.