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MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids
International Journal of Legal Medicine, 2004Inference of the population and ancestry to which an individual belongs is important in forensic individualization and personal identification. In this study, five polymorphisms of the membrane-associated transporter protein (MATP) gene were investigated in German and Japanese populations.
Isao, Yuasa +5 more
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Variants of theMATP/SLC45A2gene are protective for melanoma in the French population
Human Mutation, 2008In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition. A cohort comprising 1,019 melanoma patients (MelanCohort) and 1,466 Caucasian controls without skin cancers were studied. A total of 10 polymorphisms, including five functional MC1R alleles (p.Asp84Glu,
Guedj, M. +15 more
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Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4
Human Mutation, 2004Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes. Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer.
Uta, Rundshagen +4 more
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Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder‐Haplotype Analysis
Annals of Human Genetics, 2006SummaryThe membrane‐associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations. In this study more detailed distribution of the F374 allele was investigated in 1649 unrelated subjects from 13 ...
I, Yuasa +11 more
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Polymorphisms of the MATP/SLC45A2 gene and susceptibility to melanoma in the French population
Journal of Clinical Oncology, 200811040 Background: Loss-of-function variants in the melanocortin 1 receptor gene (MC1R) are low penetrant melanoma predisposing alleles. Methods: A cohort comprising 1,019 patients affected by melanoma (MelanCohort) and 1,466 Caucasian controls skin cancer-free were studied. Ten polymorphisms, including five functional MC1R alleles (R151C, R160W, D294H,
N. Soufir +10 more
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Human Mutation, 2007
Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins. Recently, pathogenic mutations in MATP have been shown to cause oculocutaneous albinism type 4, while other polymorphisms are known to ...
Graf, Justin +3 more
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Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins. Recently, pathogenic mutations in MATP have been shown to cause oculocutaneous albinism type 4, while other polymorphisms are known to ...
Graf, Justin +3 more
openaire +3 more sources
ABSTRACTAn increasing number of proteins involved in bacterial cell cycle events have been recently shown to undergo phase separation. The resulting biomolecular condensates play an important role in cell cycle protein function and may be involved in development of persister cells tolerant to antibiotics. Here we report that theE.
Inés, Barros-Medina +8 more
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Inés, Barros-Medina +8 more
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2013
With heated global competition, the United States is in a marathon race to maintain an edge in fundamental areas of research and innovation. The National LambdaRail (NLR) initiative will provide critically needed high-speed network infrastructure for the next generation of research.
openaire +1 more source
With heated global competition, the United States is in a marathon race to maintain an edge in fundamental areas of research and innovation. The National LambdaRail (NLR) initiative will provide critically needed high-speed network infrastructure for the next generation of research.
openaire +1 more source
Bacterial physiology: Solving the MatP compaction puzzle.
Nature reviews. Microbiology, 2013openaire +1 more source

