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- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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- Johnston, Jennifer J., et al.
(författare)
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Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
- 2010
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 31:10, s. 1142-1154
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Tidskriftsartikel (refereegranskat)abstract
- A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
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| 9. |
- Sawakuchi, A. O., et al.
(författare)
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Luminescence of quartz and feldspar fingerprints provenance and correlates with the source area denudation in the Amazon River basin
- 2018
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Ingår i: Earth and Planetary Science Letters. - : Elsevier. - 0012-821X .- 1385-013X. ; 492, s. 152-162
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Tidskriftsartikel (refereegranskat)abstract
- The Amazon region hosts the world's largest watershed spanning from high elevation Andean terrains to lowland cratonic shield areas in tropical South America. This study explores variations in optically stimulated luminescence (OSL) and infrared stimulated luminescence (IRSL) signals in suspended silt and riverbed sands retrieved from major Amazon rivers. These rivers drain Pre-Cambrian to Cenozoic source rocks in areas with contrasting denudation rates. In contrast to the previous studies, we do not observe an increase in the OSL sensitivity of quartz with transport distance; for example, Tapajos and Xingu Rivers show more sensitive quartz than Solimbes and Madeira Rivers, even though the latter have a significantly larger catchment area and longer sediment transport distance. Interestingly, high sensitivity quartz is observed in rivers draining relatively stable Central Brazil and Guiana shield areas (denudation rate xi = 0.04 mm yr(-1)), while low sensitivity quartz occurs in less stable Andean terrains (xi = 0.24 mm yr(-1)). An apparent linear correlation between quartz OSL sensitivity and denudation rate suggests that OSL sensitivity may be used as a proxy for erosion rates in the Amazon basin. Furthermore, luminescence sensitivity measured in sand or silt arises from the same mineral components (quartz and feldspar) and clearly discriminates between Andean and shield sediments, avoiding the grain size bias in provenance analysis. These results have implications for using luminescence sensitivity as a proxy for Andean and shield contributions in the stratigraphic record, providing a new tool to reconstruct past drainage configurations within the Amazon basin.
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