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Träfflista för sökning "WFRF:(Jameel N) "

Sökning: WFRF:(Jameel N)

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  • Tariq, M., et al. (författare)
  • Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
  • 2018
  • Ingår i: Clinical Genetics. - : WILEY. - 0009-9163 .- 1399-0004. ; 93:1, s. 182-186
  • Tidskriftsartikel (refereegranskat)abstract
    • The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal dysplasia (MED) to pseudoachondroplasia (PSACH). However, the phenotypic effect from biallelic COMP variants is unclear. We investigated a large consanguineous Pakistani family with a severe form of PSACH in 2 individuals. Another 14 family members presented with a mild PSACH phenotype similar to MED. Using exome sequencing and subsequent segregation analysis, we identified homozygosity for a COMP missense variant [c.1423G>A; p.(D475N)] in the 2 severely affected individuals, whereas family members with the mild PSACH phenotype were heterozygous. Our observations show for the first time that a biallelic COMP variant may be associated with pronounced and widespread skeletal malformations suggesting an additive effect of the 2 mutated alleles.
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  • Kim, Dae-Kyum, et al. (författare)
  • EVpedia: A Community Web Portal for Extracellular Vesicles Research
  • 2015
  • Ingår i: Bioinformatics. - : Oxford University Press (OUP). - 1367-4803 .- 1367-4811. ; 31:6, s. 933-939
  • Tidskriftsartikel (refereegranskat)abstract
    • Motivation: Extracellular vesicles (EVs) are spherical bilayered proteolipids, harboring various bioactive molecules. Due to the complexity of the vesicular nomenclatures and components, online searches for EV-related publications and vesicular components are currently challenging. Results: We present an improved version of EVpedia, a public database for EVs research. This community web portal contains a database of publications and vesicular components, identification of orthologous vesicular components, bioinformatic tools and a personalized function. EVpedia includes 6879 publications, 172 080 vesicular components from 263 high-throughput datasets, and has been accessed more than 65 000 times from more than 750 cities. In addition, about 350 members from 73 international research groups have participated in developing EVpedia. This free web-based database might serve as a useful resource to stimulate the emerging field of EV research.
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  • Resultat 1-4 av 4

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