La revisió de textos escrits : Memòria de pràctiques a Núvol

Aquest TFG és la memòria de les pràctiques de revisió i correcció de textos escrits fetes al digital de cultura 'Núvol'. En la memòria faig una presentació i una anàlisi del digital, explico les tasques desenvolupades durant les pràctiques i en faig la valoració.

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events

Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements. Part of the difficulty to explain the wide range of phenotypes associated with 8p23.1 rearrangements is that REPP and REPD are not yet well characterized, probably due to their polymorphic status. Here, we describe a novel primate-specific gene family, named FAM90A (family with sequence similarity 90), found within these SDs. According to the current human reference sequence assembly, the FAM90A family includes 24 members along 8p23.1 region plus a single member on chromosome 12p13.31, showing copy number variation (CNV) between individuals. These genes can be classified into subfamilies I and II, which differ in their upstream and 5′-untranslated region sequences, but both share the same open reading frame and are ubiquitously expressed. Sequence analysis and comparative fluorescence in situ hybridization studies showed that FAM90A subfamily II suffered a big expansion in the hominoid lineage, whereas subfamily I members were likely generated sometime around the divergence of orangutan and African great apes by a fusion process. In addition, the analysis of the Ka/Ks ratios provides evidence of functional constraint of some FAM90A genes in all species. The characterization of the FAM90A gene family contributes to a better understanding of the structural polymorphism of the human 8p23.1 region and constitutes a good example of how SDs, CNVs and rearrangements within themselves can promote the formation of new gene sequences with potential functional consequences.

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal models suggest that other neurotrophin genes might also be involved in eating behavior. We have performed a family-based association study with 151 TagSNPs covering 10 neurotrophin signaling genes: NGFB, BDNF, NTRK1, NGFR/p75, NTF4/5, NTRK2, NTF3, NTRK3, CNTF and CNTFR in 371 ED trios of Spanish, French and German origin. Besides several nominal associations, we found a strong significant association after correcting for multiple testing (P = 1.04 × 10−4) between ED and rs7180942, located in the NTRK3 gene, which followed an overdominant model of inheritance. Interestingly, HapMap unrelated individuals carrying the rs7180942 risk genotypes for ED showed higher levels of expression of NTRK3 in lymphoblastoid cell lines. Furthermore, higher expression of the orthologous murine Ntrk3 gene was also detected in the hypothalamus of the anx/anx mouse model of anorexia. Finally, variants in NGFB gene appear to modify the risk conferred by the NTRK3 rs7180942 risk genotypes (P = 4.0 × 10−5) showing a synergistic epistatic interaction. The reported data, in addition to the previous reported findings for BDNF and NTRK2, point neurotrophin signaling genes as key regulators of eating behavior and their altered cross-regulation as susceptibility factors for EDs.

The quest for a message: budding yeast, a model organism to study the control of pre-mRNA splicing

Removal of introns during pre-mRNA splicing is a critical process in gene expression, and understanding its control at both single-gene and genomic levels is one of the great challenges in Biology. Splicing takes place in a dynamic, large ribonucleoprotein complex known as the spliceosome. Combining Genetics and Biochemistry, Saccharomyces cerevisiae provides insights into its mechanisms, including its regulation by RNA-protein interactions. Recent genome-wide analyses indicate that regulated splicing is broad and biologically relevant even in organisms with a relatively simple intronic structure, such as yeast. Furthermore, the possibility of coordination in splicing regulation at genomic level is becoming clear in this model organism. This should provide a valuable system to approach the complex problem of the role of regulated splicing in genomic expression.

Amelioration of Duchenne muscular dystrophy in mdx mice by elimination of matrix-associated fibrin-driven inflammation coupled to the αMβ2 leukocyte integrin receptor

In Duchenne muscular dystrophy (DMD), a persistently altered and reorganizing extracellular matrix (ECM) within inflamed muscle promotes damage and dysfunction. However, the molecular determinants of the ECM that mediate inflammatory changes and faulty tissue reorganization remain poorly defined. Here, we show that fibrin deposition is a conspicuous consequence of muscle-vascular damage in dystrophic muscles of DMD patients and mdx mice and that elimination of fibrin(ogen) attenuated dystrophy progression in mdx mice. These benefits appear to be tied to: (i) a decrease in leukocyte integrin α(M)β(2)-mediated proinflammatory programs, thereby attenuating counterproductive inflammation and muscle degeneration; and (ii) a release of satellite cells from persistent inhibitory signals, thereby promoting regeneration. Remarkably, Fib-gamma(390-396A) (Fibγ(390-396A)) mice expressing a mutant form of fibrinogen with normal clotting function, but lacking the α(M)β(2) binding motif, ameliorated dystrophic pathology. Delivery of a fibrinogen/α(M)β(2) blocking peptide was similarly beneficial. Conversely, intramuscular fibrinogen delivery sufficed to induce inflammation and degeneration in fibrinogen-null mice. Thus, local fibrin(ogen) deposition drives dystrophic muscle inflammation and dysfunction, and disruption of fibrin(ogen)-α(M)β(2) interactions may provide a novel strategy for DMD treatment.

Signatures of slope failures and river-delta collapses in a perialpine lake (Lake Lucerne, Switzerland)

Historical reports from the 17th Century document two destructive tsunamis with runups exceeding 5 m, affecting proximal basins of Lake Lucerne (Switzerland). One event in AD 1601 is coeval with a strong nearby earthquake (MW ca 5.9), which caused extensive slope failures in many parts of the lake. The second event in AD 1687 is associated with an apparently spontaneous partial collapse of the Muota river delta. This study combines high-resolution bathymetry, reflection seismic and lithological data in order to document the sedimentary and morphological signatures of the two subaqueous mass movements that probably generated the observed tsunamis. Such mass movements are significant as a common sedimentation process and as natural hazard in fjord-type lakes and similar environments. The deposits, covering large parts of the basins with thicknesses reaching >10 m, consist of two subunits: A lower ‘massflow deposit’ contains variably deformed sediments from the source areas. Its emplacement affected pre-existing sediments, incorporating thin sediment slices into the deposit and increasing its volume. Deep-reaching deformation near This is an Accepted Article that has been peer-reviewed and approved for publication in the Sedimentology, but has yet to undergo copy-editing and proof correction.

Asthma inhaler adherence determinants in adults : systematic review of observational data

Copyright ©ERS 2014.

Effects of antenatal multiple micronutrient supplementation on lung function in mid-childhood : follow-up of a double-blind randomised controlled trial in Nepal

Date of Acceptance: 12/12/2014 Support statement: This study was funded by the Wellcome Trust (Ref 092121/Z/10/Z), who played no role in its conception, methods, analysis or interpretation. Funding information for this article has been deposited with FundRef.

Variations in hip shape are associated with radiographic knee osteoarthritis : cross-sectional and longitudinal analyses of the Johnston County Osteoarthritis Project

Funding was provided in part by the US National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) K23 AR061406 (Nelson); US National Institutes of Health (NIH)/NIAMS P60AR30701 (Jordan/Renner/Schwartz); US Centers for Disease Control/Association of Schools of Public Health S043 and S3486 (Jordan/Renner); K24-AR04884, P50-AR063043, and P50-AR060752 (Lane); and NIH/National Center for Advancing Translational Sciences KL2TR001109 (Golightly).

Asthma inhaler adherence determinants in adults : systematic review of observational data

Copyright ©ERS 2014.

Effects of antenatal multiple micronutrient supplementation on lung function in mid-childhood : follow-up of a double-blind randomised controlled trial in Nepal

Date of Acceptance: 12/12/2014 Support statement: This study was funded by the Wellcome Trust (Ref 092121/Z/10/Z), who played no role in its conception, methods, analysis or interpretation. Funding information for this article has been deposited with FundRef.

Variations in hip shape are associated with radiographic knee osteoarthritis : cross-sectional and longitudinal analyses of the Johnston County Osteoarthritis Project

Funding was provided in part by the US National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) K23 AR061406 (Nelson); US National Institutes of Health (NIH)/NIAMS P60AR30701 (Jordan/Renner/Schwartz); US Centers for Disease Control/Association of Schools of Public Health S043 and S3486 (Jordan/Renner); K24-AR04884, P50-AR063043, and P50-AR060752 (Lane); and NIH/National Center for Advancing Translational Sciences KL2TR001109 (Golightly).

The Longitudinal Course of Fatigue in Rheumatoid Arthritis : Results from the Norfolk Arthritis Register

Acknowledgment: The authors would like to thank the University of Manchester for access to the Norfolk Arthritis Register data and Professor Deborah Symmons for comments on an earlier draft of the manuscript. K.L.D. is funded by a studentship from the Institute of Applied Health Sciences, University of Aberdeen.

Cumulative live birth rates after one or more complete cycles of IVF : a population-based study of linked cycle data from 178 898 women

© The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Beta-blockers in COPD : time for reappraisal

Peer reviewed