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1.
Miguel Angel Pujana Monica Gratacós Jordi Corral Isabel Banchs Aurora Sánchez David Genís Carlos Cervera Víctor Volpini X. Estivill 《Human genetics》1997,101(1):18-21
Genetic anticipation – increasing severity and a decrease in the age of onset with successive generations of a pedigree –
is clearly present in autosomal dominant cerebellar ataxia (ADCA). Anticipation is correlated with expansion of the CAG/CTG
repeat sequence to sizes above those in the normal range through the generations of a pedigree. Genetic heterogeneity has
been demonstrated for ADCA, with four cloned genes (SCA1, SCA2, SCA3/MJD, and SCA6) and three mapped loci (SCA4, SCA5 and
SCA7). Another related dominant ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), presents anticipation with CAG/CTG repeat
expansions. We had previously analysed ADCA patients who had not shown repeat expansions in cloned genes for CAG/CTG repeat
expansions by the repeat expansion detection method (RED) and had detected expansions of between 48 and 88 units in 17 unrelated
familial cases. We present here an analysis of 13 genes and expressed sequence tags (ESTs) containing 10 or more CAG/ CTG
repeat sequences selected from public databases in the 17 unrelated ADCA patients. Of the 13 selected genes and ESTs, 9 were
found to be polymorphic with heterozygosities ranging between 0.09 and 0.80 and 2 to 17 alleles. In ADCA patients none of
the loci showed expansions above the normal range of the CAG/CTG repeat sequences, excluding them as the mutation causing
ADCA.
Received: 28 May 1997 / Accepted: 30 June 1997 相似文献
2.
Maritime traffic is an issue of major ecological concern, and vessel noise may be an important source of disturbance for coastal cetaceans. In the Sado estuary, Portugal, core habitat areas of a small resident population of bottlenose dolphins (Tursiops truncatus) overlap with routes of intense maritime traffic, which presents an opportunity to assess vocal responses of these dolphins to specific vessel noise sources. Field recordings of dolphin vocalizations were made from April to November 2011, using a calibrated system. Dolphin behavior and group size were recorded, as well as the operating boat condition (no boats or specific boat type) in a 1,000 m radius. Spectral analyses of vocalizations allowed the categorization and quantitative analysis of echolocation click trains and social calls, including whistles. Mean overall call rates decreased significantly in the presence of operating vessels. Creaks (fast click trains) were significantly reduced in the presence of ferry boats. Significant differences were also observed in the whistles' minimum, maximum, and start frequencies. These changes in call emission rates and temporary shifts in whistles characteristics may be a vocal response to the proximity of operating vessels, facilitating communication in this busy, noisy estuary. 相似文献
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Coral Reefs - Giant clams are found in a mutualistic association with Symbiodiniaceae dinoflagellates. While clams are economically important for fisheries, Symbiodiniaceae are responsible for most... 相似文献
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In this paper we propose an instrument for collecting sensitive data that allows for each participant to customize the amount of information that she is comfortable revealing. Current methods adopt a uniform approach where all subjects are afforded the same privacy guarantees; however, privacy is a highly subjective property with intermediate points between total disclosure and non-disclosure: each respondent has a different criterion regarding the sensitivity of a particular topic. The method we propose empowers respondents in this respect while still allowing for the discovery of interesting findings through the application of well-known inferential procedures. 相似文献
7.
Ingrid Garzón Victor Carriel Ana Belén Marín-Fernández Ana Celeste Oliveira Juan Garrido-Gómez Antonio Campos María del Carmen Sánchez-Quevedo Miguel Alaminos 《PloS one》2012,7(12)
Temporo-mandibular joint disc disorders are highly prevalent in adult populations. Autologous chondrocyte implantation is a well-established method for the treatment of several chondral defects. However, very few studies have been carried out using human fibrous chondrocytes from the temporo-mandibular joint (TMJ). One of the main drawbacks associated to chondrocyte cell culture is the possibility that chondrocyte cells kept in culture tend to de-differentiate and to lose cell viability under in in-vitro conditions. In this work, we have isolated human temporo-mandibular joint fibrochondrocytes (TMJF) from human disc and we have used a highly-sensitive technique to determine cell viability, cell proliferation and gene expression of nine consecutive cell passages to determine the most appropriate cell passage for use in tissue engineering and future clinical use. Our results revealed that the most potentially viable and functional cell passages were P5–P6, in which an adequate equilibrium between cell viability and the capability to synthesize all major extracellular matrix components exists. The combined action of pro-apoptotic (TRAF5, PHLDA1) and anti-apoptotic genes (SON, HTT, FAIM2) may explain the differential cell viability levels that we found in this study. These results suggest that TMJF should be used at P5–P6 for cell therapy protocols. 相似文献
8.
Ylenia Chiari Pablo Orozco-terWengel Miguel Vences David R. Vieites Augustin Sarovy Jasmin E. Randrianirina Axel Meyer Edward Louis Jr. 《Conservation Genetics》2006,7(4):473-482
Dyscophus antongilii and D. guineti are two morphologically very similar microhylid frogs from Madagascar of uncertain taxonomy. D. antongilii is currently included in Appendix I of the Convention on the International Trade in Endangered Species (CITES) and its exportation is banned completely. In contrast, D. guineti does not receive any legal protection and it is regularly exported. Field data on ecology and behaviour are to a large extent lacking. Here we report on a genetic survey of D. antongilii and D. guineti using nuclear and mitochondrial DNA markers. Sequences of a fragment of 501 bp of the mitochondrial cytochrome b gene from one population of D. antongilii and two populations of D. guineti resulted in a single haplotype network, without haplotype sharing among the populations. However, haplotypes of D.␣guineti were only 1–4 mutational steps from those of D. antongilii, and did not form a clade. The analysis of eight microsatellites newly developed and standardized for D. antongilii revealed an excess of homozygotes and the absence of Hardy–Weinberg equilibrium. The microsatellite data clearly distinguished between D. antongilii and D. guineti, and fixed differences were observed at one locus. Although confirmation of the status of Dyscophus antongilii and D. guineti as separate species requires further data, our study supports the definition of these two taxa as different evolutionary significant units under the adaptive evolutionary conservation concept. 相似文献
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Jin Wei Mia Madel Alfajaro Peter C. DeWeirdt Ruth E. Hanna William J. Lu-Culligan Wesley L. Cai Madison S. Strine Shang-Min Zhang Vincent R. Graziano Cameron O. Schmitz Jennifer S. Chen Madeleine C. Mankowski Renata B. Filler Neal G. Ravindra Victor Gasque Fernando J. de Miguel Ajinkya Patil Huacui Chen Craig B. Wilen 《Cell》2021,184(1):76-91.e13