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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have discovered that β-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. Two families have separate in-frame deletions of 39 and 15 bp, and a third ...
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by ...
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature America Inc.
    Nature genetics 24 (2000), S. 215-215 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] In reply Stevanin et al. and Worth et al. suggest that the reduced penetrance of SCA8 in ataxia families and the large alleles found in controls indicate that the CTG expansion may be a non-pathogenic polymorphism tightly linked to an ataxia locus. Because we isolated the CTG expansion from a ...
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic mouse model in which the full-length human SCA8 mutation is transcribed using its endogenous promoter. (CTG)116 expansion, but ...
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Trinucleotide repeat expansions have been shown to cause a number of neurodegenerative diseases1–6. A hallmark of most of these diseases is the presence of anticipation, a decrease in the age at onset in consecutive generations due to the tendency of the unstable trinucleotide repeat to ...
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  • 6
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature America Inc.
    Nature genetics 19 (1998), S. 196-198 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We report the mapping of a second myotonic dystrophy locus, myotonic dystrophy type 2 (DM2). Myotonic dystrophy (DM) is a multi-system disease and the most common form of muscular dystrophy in adults. In 1992, DM was shown to be caused by an expanded CTG repeat in the 3´ untranslated ...
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Environmental management 14 (1990), S. 229-240 
    ISSN: 1432-1009
    Keywords: Impoundments ; Wetlands ; Louisiana ; Coastal zone management ; Wetland loss ; Remote sensing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Energy, Environment Protection, Nuclear Power Engineering
    Notes: Abstract We inventoried wetland impoundments in the Louisiana, USA, coastal zone from the late 1900s to 1985. Historically, impoundment of wetlands for reclamation resulted in direct wetland loss after levees (dikes) failed and the impounded area was permanently flooded, reverting not to wetland, but to open-water habitat. A current management approach is to surround wetlands by levees and water control structures, a practice termed semi-impoundment marsh management. The purpose of this semi-impoundment is to retard saltwater intrusion and reduce water level fluctuations in an attempt to reduce wetland loss, which is a serious problem in coastal Louisiana. In order to quantify the total impounded area, we used historic data and high-altitude infrared photography to map coastal impoundments. Our goal was to produce a documented inventory of wetlands intentionally impounded by levees in the coastal zone of Louisiana in order to provide a benchmark for further research. We inventoried 370,658 ha within the coastal zone that had been intentionally impounded before 1985. This area is equal to about 30% of the total wetland area in the coastal zone. Of that total area, approximately 12% (43,000 ha) is no longer impounded (i.e., failed impoundments; levees no longer exist or only remnants remain). Of the 328,000 ha still impounded, about 65% (214,000 ha) is developed (agriculture, aquaculture, urban and industrial development, and contained spoil). The remaining 35% (114,000 ha) of impoundments are in an undeveloped state (wetland or openwater habitat). In December 1985, approximately 50% (78,000 ha) of the undeveloped and failed impoundments were open-water habitat. This inventory will allow researchers to monitor future change in land-water ratios that occur within impounded wetlands and thus to assess the utility of coastal wetland management using impoundments.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Environmental management 4 (1980), S. 325-335 
    ISSN: 1432-1009
    Keywords: Fresh water swamp ; Hydrology ; Nutrient dynamics ; Eutrophication ; Storm Water Management Model (SWMM)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Energy, Environment Protection, Nuclear Power Engineering
    Notes: Abstract The EPA Storm Water Management Model (1971) was used to model hydrodynamics, nutrient dynamics, and eutrophication in a Louisiana swamp forest ecosystem. The present system of canals and spoil banks in the swamp causes impoundment of swamp areas and does not optimize discharge from the swamp forest. Simulations showed that hydraulics could be managed to increase discharge rates to the lower estuary (22 percent), to increase productivity of the swamp forest (100 percent), and to decrease lake eutrophication (43 percent). This could be done by removing spoil banks in the swamp and allowing upland runoff to pass through the backswamp.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Environmental management 4 (1980), S. 315-324 
    ISSN: 1432-1009
    Keywords: Nutrient runoff ; Nonpoint pollution ; Storm Water Management Model (SWMM) ; Storm water runoff ; Urban development ; Water runoff
    Source: Springer Online Journal Archives 1860-2000
    Topics: Energy, Environment Protection, Nuclear Power Engineering
    Notes: Abstract The EPA Storm Water Management Model was used to model the effects of urban and agricultural development on storm water runoff from uplands bordering a Louisiana swamp forest. Using this model, we examined the effects of changing land use patterns. By 1995 it is projected that urban land on the uplands bordering the swamp will increase by 321 percent, primarily at the expense of land currently in agriculture. Simulation results indicate that urbanization will cause storm water runoff rates to be up to 4.2 times greater in 1995 than in 1975. Nutrient runoff will increase 28 percent for nitrogen (N) and 16 percent for phosphorus (P) during the same period. The environmental effects of these changes in the receiving swamp forest are examined.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1573-5117
    Keywords: mangroves ; seagrasses ; critical habitat ; estuarine fishes ; coupling primary/secondary production ; Mexico
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract In Terminos Lagoon, México, more than 80 fish species use the mangrove and seagrass habitats. We studied nekton dynamics in an inlet seagrass system and a more sheltered seagrass/mangrove system located behind a barrier island. Seasonal community biomass ranges from 0.6 to 5.2 g wet wt m-2. For the two habitats together, there are 28 dominant species. Eleven species were common to both areas: Sphoeroides testudineus (Linnaeus, 1758), Archosargus rhomboidalis Linnaeus, 1758, A. probatocephalus (Walbaum, 1792), Arius felis (Linnaeus, 1766), A. melanopus (Gunther, 1864), Eucinostomus gula (Cuvier & Valenciennes, 1830), Bairdiella chrysoura (Lacépède, 1803), Orthopristis chrysoptera (Linnaeus, 1766), Chilomycterus schoepfi (Walbaum, 1792), Opsanus beta (Goode & Bean, 1879) and Lutjanus griseus (Linnaeus, 1758). Ten species used exclusively the inlet seagrass system: Urolophus jamaicensis (Cuvier, 1817), Haemulon aurolineatum (Cuvier, 1829), H. bonariense (Cuvier, 1830), H. plumieri (Lacépède, 1802), Anisotremus virginicus (Linnaeus, 1758), Odontoscion dentex (Cuvier, 1830), Corvula sanctae-luciae (Jordan, 1890), Nicholsina usta (Valenciennes, 1839), Stephanolepis hispidus (Linnaeus, 1766) and Diodon hystrix Linnaeus, 1758. Seven species were dominant only in the seagrass/mangrove system: Anchoa mitchilli (Cuvier & Valenciennes, 1848), Scorpaena plumieri Bloch, 1789, Cynoscion nebulosus (Cuvier & Valenciennes, 1830), Diapterus rhombeus (Cuvier & Valenciennes, 1830), Bairdiella ronchus (Cuvier & Valenciennes, 1830), Cichlasoma urophtalmus (Günther, 1862) and Acanthostracion quadricornis (Linnaeus, 1758). Comparative analysis showed that periodic variation in biomass and diversity of fish assemblages in seagrass and seagrass/mangrove habitats were synchronized with sizes and densities of population, season of the year (dry, wet, ‘nortes’), circulation pattern, and patterns of primary production (phytoplankton, Thalassia testudinum Konig, 1805; and Rhizophora mangle Linnaeus). This analysis allowed the definition of 3 life-cycle patterns with a clear nektonic ‘seasonal programming’ following the timing of primary production in these critical habitats: (1) marine species which spawn in or near the inlet with eggs and larvae transported into and distributed throughout the lagoon by the predominant currents; (2) estuarine-marine species which spawn in different habitats of the lagoon and use the seagrass/mangrove system as a nursery area, and (3) species which complete their life history in the inlet seagrass and/or seagrass/mangrove systems.
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