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Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
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Hanein S Martin E Boukhris A Byrne P Goizet C Hamri A Benomar A Lossos A Denora P Fernandez J Elleuch N Forlani S Durr A Feki I Hutchinson M Santorelli FM Mhiri C Brice A Stevanin G 《American journal of human genetics》2008,82(4):992-1002
Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and "complicated" forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive "complicated" HSP have been mapped. The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. Here, we report the refinement of SPG15 to a 2.64 Mb genetic interval on chromosome 14q23.3-q24.2 and the identification of ZFYVE26, which encodes a zinc-finger protein with a FYVE domain that we named spastizin, as the cause of SPG15. Six different truncating mutations were found to segregate with the disease in eight families with a phenotype that included variable clinical features of Kjellin syndrome. ZFYVE26 mRNA was widely distributed in human tissues, as well as in rat embryos, suggesting a possible role of this gene during embryonic development. In the adult rodent brain, its expression profile closely resembled that of SPG11, another gene responsible for complicated HSP. In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking. 相似文献
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Guillermo Rodríguez‐Hernández Inés González‐Herrero Carolin Walter Sara González de Tena‐Dávila Salma Parvin Oskar Haas Wilhelm Woessmann Martin Stanulla Martin Schrappe Martin Dugas Yasodha Natkunam Alberto Orfao Verónica Domínguez Belén Pintado Oscar Blanco Diego Alonso‐López Javier De Las Rivas Alberto Martín‐Lorenzo Rafael Jiménez Francisco Javier García Criado María Begoña García Cenador Izidore S Lossos Carolina Vicente‐Dueñas Arndt Borkhardt Julia Hauer Isidro Sánchez‐García 《The EMBO journal》2018,37(14)
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Background
The statistical modeling of biomedical corpora could yield integrated, coarse-to-fine views of biological phenomena that complement discoveries made from analysis of molecular sequence and profiling data. Here, the potential of such modeling is demonstrated by examining the 5,225 free-text items in the Caenorhabditis Genetic Center (CGC) Bibliography using techniques from statistical information retrieval. Items in the CGC biomedical text corpus were modeled using the Latent Dirichlet Allocation (LDA) model. LDA is a hierarchical Bayesian model which represents a document as a random mixture over latent topics; each topic is characterized by a distribution over words. 相似文献7.
Estimating the rate of evolution of the rate of molecular evolution 总被引:35,自引:13,他引:22
A simple model for the evolution of the rate of molecular evolution is
presented. With a Bayesian approach, this model can serve as the basis for
estimating dates of important evolutionary events even in the absence of
the assumption of constant rates among evolutionary lineages. The method
can be used in conjunction with any of the widely used models for
nucleotide substitution or amino acid replacement. It is illustrated by
analyzing a data set of rbcL protein sequences.
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Vipond C Mulloy B Rigsby P Burkin K Bolgiano B;the MenC IS Working Group 《Biologicals》2012,40(5):353-363
Meningococcal group C (MenC) plain polysaccharide (PS) and conjugate vaccines are primarily evaluated by physicochemical methods to ensure that batches are consistently manufactured. As different assays are employed to quantify the MenC PS content of final formulations and bulk intermediaries, there is a need for an International MenC PS Standard to calibrate internal references used in the different laboratories. Twelve laboratories from nine different countries participated in a collaborative study to determine the MenC PS content of a candidate International Standard MenC PS preparation (08/214) and to assess its suitability. On the basis of the results from this study the candidate standard 08/214 was established as an International Standard for the quantification of MenC PS content in vaccines and components. It has a content of 1.192 ± 0.192 mg MenC PS/ampoule (expanded uncertainty with coverage factor of k = 2.365 corresponding to a 95% level of confidence), as determined by the resorcinol assays carried out by eight of the participating laboratories. The standard is available from The National Institute of Biological Standards and Control who act as guardians and distributors of the material under the auspices of WHO. 相似文献
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Background
Ensemble attribute profile clustering is a novel, text-based strategy for analyzing a user-defined list of genes and/or proteins. The strategy exploits annotation data present in gene-centered corpora and utilizes ideas from statistical information retrieval to discover and characterize properties shared by subsets of the list. The practical utility of this method is demonstrated by employing it in a retrospective study of two non-overlapping sets of genes defined by a published investigation as markers for normal human breast luminal epithelial cells and myoepithelial cells. 相似文献10.
Michael Wang Stephen J. Schuster Tycel Phillips Izidore S. Lossos Andre Goy Simon Rule Mehdi Hamadani Nilanjan Ghosh Craig B. Reeder Evelyn Barnett Marie-Laure Casadebaig Bravo Peter Martin 《Journal of hematology & oncology》2017,10(1):171