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1.
Diagnostics (Basel) ; 14(5)2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38472981

RESUMO

Although previous studies indicated that chronic alcohol abuse (CAA) and alcoholic liver cirrhosis (ALC) are associated with increased bone fragility, understanding bone fragility determinants is still modest in these individuals. We used a comprehensive individualized clinical fracture risk assessment approach (vertebral osteodensitometry, femoral osteodensitometry and geometry, and serum bone turnover biomarkers) to compare adult male patients with ALC who have not previously had femoral or vertebral fractures (n = 39), patients with CAA (without liver cirrhosis, n = 78) who have not previously had femoral or vertebral fractures and healthy age- and sex-matched controls (n = 43). Our data suggested that intertrochanteric bone mineral density was significantly lower in ALC and CAA patients than in controls. Also, the trabecular bone score was considerably lower in ALC patients compared with CAA and control individuals. The most significant inter-group differences in femoral geometry were noted on the femoral shaft. Patients with ALC and CAA have a higher 10-year risk of major osteoporotic fractures compared to the controls. Analysis of bone turnover biomarkers showed increased osteoprotegerin and beta-C-terminal telopeptide serum concentrations and decreased insulin growth factor-1 concentrations in patients with ALC compared to CAA and control groups. Our data revealed that bone alterations are present in patients with ALC and CAA even if they did not sustain a nontraumatic bone fracture, but it is also indicative that current bone-assessing clinical methods are not entirely reliable. Thus, future studies should focus on developing a reliable integrative clinical tool that can be used to accurately predict and prevent bone fracture occurrences in patients with ALC and CAA.

2.
Front Sports Act Living ; 5: 1327379, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38162698

RESUMO

With force plates being widely implemented for neuromuscular performance assessment in sport-specific settings and various force-time metrics being able to differentiate athletes based on their performance capabilities, the purpose of the present study was to examine the differences in countermovement vertical jump (CVJ) characteristics between starting and non-starting professional male basketball players (e.g., ABA League). Twenty-three athletes (height = 199.2 ± 7.7 kg, body mass = 94.2 ± 8.2 kg, age = 23.8 ± 4.9 years) volunteered to participate in the present investigation. Upon completion of a standardized warm-up protocol, each athlete performed three maximal-effort CVJs without an arm swing while standing on a uni-axial force plate system sampling at 1,000 Hz. Independent t-tests were used to examine statistically significant differences (p < 0.05) in each force-time metric between starters (n = 10) and non-starters (n = 13). No significant differences in any of the CVJ force-time metrics of interest were observed between the two groups, during both the eccentric and concentric phases of the movement (i.e., impulse, duration, peak velocity, and mean and peak force and power). Moreover, starters and non-starters demonstrated similar performance on CVJ outcome (e.g., jump height) and strategy metrics (e.g., countermovement depth). Overall, these findings suggest that at the professional level of play, the ability to secure a spot in the starting lineup is not primarily determined by the players' CVJ performance characteristics.

4.
Acta Parasitol ; 65(4): 954-962, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32601819

RESUMO

PURPOSE: This study aimed to determine the presence of C. plica in red foxes and to point out the possibilities of different diagnostic methods, that could be used for diagnosis of urinary capillariosis in domestic carnivores. METHODS: Seventeen red foxes from hunting grounds in the Kolubara District, Republic of Serbia, were examined in February 2019. Animals to be shot were selected based on the criteria of gamekeepers and the permission of the competent Ministry. After hunting, the foxes were examined by ultrasound and autopsied. After the necropsy, biochemical and sediment analysis of urine morphological identification of isolated adult parasites, and macroscopic/microscopic examination of the urinary bladder and kidney tissue were performed. RESULTS: Adults of C. plica were detected in 3/17 foxes (17.6%) by ultrasound imaging and in 6/17 foxes (35.3%) by necropsy examination. Parasite eggs were found in the urinary sediment of 9/17 foxes (52.9%). The predominant histopathologic changes were amyloid degeneration of the renal glomeruli and proximal tubules (8/17 foxes-47%) as well as acute cystitis (7/17 foxes-41.2%). The occurrence of C. plica was determined in 12/17 (70.6%) of the examined foxes. DISCUSSION: This study is the first record of the C. plica in red foxes in the Republic of Serbia. Diagnostic methods used in this study could make possible the early revealing of capillariosis in domestic carnivores and could provide reliable clinical and parasitological screening of suspect animals. CONCLUSION: The study presents the first report of urinary capillariosis in a fox population in Serbia. The established high prevalence of C. plica in foxes could presume its higher prevalence in domestic and wild carnivores in the future.


Assuntos
Capillaria , Infecções por Enoplida , Animais , Infecções por Enoplida/diagnóstico , Infecções por Enoplida/epidemiologia , Infecções por Enoplida/veterinária , Raposas , Sérvia/epidemiologia , Bexiga Urinária
5.
Neuron ; 107(3): 412-416, 2020 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-32692973

RESUMO

TReND is a volunteer-scientist run charity dedicated to promoting research and education on the African continent. Focusing on neuroscience, we discuss approaches to address some of the factors that currently stifle Africa's scientific development and our experience in implementing them.


Assuntos
Pesquisa Biomédica , Fortalecimento Institucional , Disseminação de Informação , Neurociências/educação , Política Pública , África , Instituições de Caridade , Docentes , Humanos
6.
Int J Legal Med ; 134(5): 1581-1590, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32504149

RESUMO

Mitochondrial genome (mtDNA) is a valuable resource in resolving various human forensic casework. The usage of variability of complete mtDNA genomes increases their discriminatory power to the maximum and enables ultimate resolution of distinct maternal lineages. However, their wider employment in forensic casework is nowadays limited by the lack of appropriate reference database. In order to fill in the gap in the reference data, which, considering Slavic-speaking populations, currently comprises only mitogenomes of East and West Slavs, we present mitogenome data for 226 Serbians, representatives of South Slavs from the Balkan Peninsula. We found 143 (sub)haplogroups among which West Eurasian ones were dominant. The percentage of unique haplotypes was 85%, and the random match probability was as low as 0.53%. We support previous findings on both high levels of genetic diversity in the Serbian population and patterns of genetic differentiation among this and ten studied European populations. However, our high-resolution data supported more pronounced genetic differentiation among Serbians and two Slavic populations (Russians and Poles) as well as expansion of the Serbian population after the Last Glacial Maximum and during the Migration period (fourth to ninth century A.D.), as inferred from the Bayesian skyline analysis. Phylogenetic analysis of haplotypes found in Serbians contributed towards the improvement of the worldwide mtDNA phylogeny, which is essential for the interpretation of the mtDNA casework.


Assuntos
DNA Mitocondrial/genética , Bases de Dados Genéticas , Variação Genética , Genética Populacional/métodos , Genoma Mitocondrial , Haplótipos , População Branca/genética , Teorema de Bayes , Humanos , Análise de Escalonamento Multidimensional , Filogenia , Sérvia/etnologia , População Branca/etnologia
7.
Nanomaterials (Basel) ; 10(4)2020 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-32231013

RESUMO

The emission of Er3+ provides three combinations of emission bands suitable for ratiometric luminescence thermometry. Two combinations utilize ratios of visible emissions (2H11/2→4I15/2 at 523 nm/ 4S3/2→4I15/2 at 542 nm and 4F7/2→4I15/2 at 485 nm/ 4S3/2→4I15/2 at 545 nm), while emissions from the third combination are located in near-infrared, e.g., in the first biological window (2H11/2→4I13/2 at 793 nm/ 4S3/2→4I13/2 at 840 nm). Herein, we aimed to compare thermometric performances of these three different ratiometric readouts on account of their relative sensitivities, resolutions, and repeatability of measurements. For this aim, we prepared Yb3+,Er3+:YF3 nanopowders by oxide fluorination. The structure of the materials was confirmed by X-ray diffraction analysis and particle morphology was evaluated from FE-SEM measurements. Upconversion emission spectra were measured over the 293-473 K range upon excitation by 980 nm radiation. The obtained relative sensitivities on temperature for 523/542, 485/542, and 793/840 emission intensity ratios were 1.06 ± 0.02, 2.03 ± 0.23, and 0.98 ± 0.10%K-1 with temperature resolutions of 0.3, 0.7, and 1.8 K, respectively. The study showed that the higher relative temperature sensitivity does not necessarily lead to the more precise temperature measurement and better resolution, since it may be compromised by a larger uncertainty in measurement of low-intensity emission bands.

8.
PeerJ ; 8: e8598, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32175186

RESUMO

The dominant donkey breed in the Balkans is the mid-sized Balkan donkey with a grey to chocolate coat color. Local breeders from Serbia, however, still maintain a few larger individuals of a lighter coat color, named Banat donkey, and speculate that they are descendants of a Spanish donkey heard that had been transferred to the Banat region by the Hapsburg Queen Maria Theresa in the XVIII century for a specific purpose, to work in local vineyards. We have previously found a unique nuclear gene-pool and a prevalence of mitochondrial Clade 2 haplotypes in several such animals. In this study, we: (i) perform a comparative analysis of 18 morphological traits of the Banat donkey (seven individuals), Balkan donkey (53 individuals from two sub-populations of this breed) and the potential hybrids (eight individuals), and demonstrate the morphological distinctiveness of the Banat donkey, highlighting the diagnostic traits for distinguishing the breed: hip height, croup width, body length and chest depth; (ii) re-analyse published nuclear microsatellite data for these groups, and reveal that, although severely depopulated, the genetically distinct Banat donkey is not severely affected by the loss of genetic diversity and inbreeding; (iii) demonstrate that previously published Banat donkey mitochondrial haplotypes, analyzed genealogically together with those reported in ancient and modern individuals from Spain, Italy, Turkey, Cyprus and Africa, are shared with three Spanish breeds and individuals belonging to Amiata and some other Italian breeds. A unique morphological feature present in Banat and Somali wild donkeys, but also in Amiata donkeys, black stripes on legs, suggests that the origin of Clade 2 donkeys may be much more complex than previously thought. Actions to preserve the Banat donkey, a valuable but critically endangered genetic resource (<100 individuals), are urgent.

9.
Evol Appl ; 12(8): 1539-1551, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31462913

RESUMO

Primeval forests are today exceedingly rare in Europe, and transfer of forest reproductive material for afforestation and improvement has been very common, especially over the last two centuries. This can be a serious impediment when inferring past population movements in response to past climate changes such as the last glacial maximum (LGM), some 18,000 years ago. In the present study, we genotyped 1,672 individuals from three Picea species (P. abies, P. obovata, and P. omorika) at 400K SNPs using exome capture to infer the past demographic history of Norway spruce (P. abies) and estimate the amount of recent introduction used to establish the Norway spruce breeding program in southern Sweden. Most of these trees belong to P. abies and originate from the base populations of the Swedish breeding program. Others originate from populations across the natural ranges of the three species. Of the 1,499 individuals stemming from the breeding program, a large proportion corresponds to recent introductions from mainland Europe. The split of P. omorika occurred 23 million years ago (mya), while the divergence between P. obovata and P. abies began 17.6 mya. Demographic inferences retrieved the same main clusters within P. abies than previous studies, that is, a vast northern domain ranging from Norway to central Russia, where the species is progressively replaced by Siberian spruce (P. obovata) and two smaller domains, an Alpine domain and a Carpathian one, but also revealed further subdivision and gene flow among clusters. The three main domains divergence was ancient (15 mya), and all three went through a bottleneck corresponding to the LGM. Approximately 17% of P. abies Nordic domain migrated from P. obovata ~103K years ago, when both species had much larger effective population sizes. Our analysis of genomewide polymorphism data thus revealed the complex demographic history of Picea genus in Western Europe and highlighted the importance of material transfer in Swedish breeding program.

10.
J Back Musculoskelet Rehabil ; 32(2): 269-276, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30347589

RESUMO

OBJECTIVE: Vertebral fractures are the most common osteoporotic fractures occurring due to low bone mineral density, as well as other risk factors. The aim of the paper is to investigate risk factors for vertebral osteoporotic fracture occurrence in postmenopausal women. METHODS: Retrospective analysis of data pertaining to 651 postmenopausal women obtained from the National Osteoporosis Registry of Serbia was conducted. Further analyses were performed on 217 osteoporotic women identified from those records, whereby those in the experimental group (n= 110) had a vertebral fracture, while those assigned to the control group (n= 107) did not. The two groups were comparable in terms of age (t= 0.450; p> 0.01). Risk factors that could serve as the best predictors of vertebral fracture occurrence were investigated. Multivariate logistic regression analysis was used for testing effect of several factors on vertebral fracture occurrence as the dependent variable. RESULTS: Patients that have never suffered a vertebral fracture had a significantly higher bone mineral density (t= 8.161; p< 0.01) in comparison to those with a verified vertebral fracture. Factors that significantly contributed to the risk of vertebral fracture were presence of kyphosis (OR 708.338; 95% CI 19.238-26.081.950), use of glucocorticoids (OR 87.618; 95% CI 9.175-836.707), and presence of comorbidities (OR 7.327; 95% CI 1.500-35.793). Moreover, a unit increase in body mass index (BMI) was found to lower the probability of vertebral fracture by a factor of 0.846. Women that entered menopause later have lower chance of suffering a vertebral fracture (OR = 0.539; 95% CI 0.400-0.726). CONCLUSION: Lower body mass index, presence of kyphosis, use of glucocorticoids, early menopause onset, and presence of comorbidities are the factors that contribute the most to vertebral osteoporotic fracture occurrence.


Assuntos
Osteoporose Pós-Menopausa/epidemiologia , Fraturas por Osteoporose/epidemiologia , Fraturas da Coluna Vertebral/epidemiologia , Idoso , Índice de Massa Corporal , Densidade Óssea , Estudos de Casos e Controles , Comorbidade , Feminino , Glucocorticoides/efeitos adversos , Humanos , Cifose/epidemiologia , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Sérvia/epidemiologia
11.
PeerJ ; 6: e5887, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30479890

RESUMO

Protection of honey bees is of great economic importance because of their role in pollination. Crucial steps towards this goal are epidemiological surveys of pathogens connected with honey bee losses. In this study deformed wing virus (DWV), chronic bee paralysis virus (CBPV), acute bee paralysis virus (ABPV) and sacbrood virus (SBV) were investigated in colonies of different strength located in five regions of Serbia. The relationship between colony strength and virus occurrence/infection intensity were assessed as well as the genetic relationship between virus sequences from Serbia and worldwide. Real-time RT-PCR analyses detected at least one virus in 87.33% of colonies. Single infection was found in 28.67% colonies (21.33%, 4.00%, 2.67% and 0.67% in cases of DWV, ABPV, SBV and CBPV, respectively). In the majority of colonies (58.66%) more than one virus was found. The most prevalent was DWV (74%), followed by ABPV, SBV and CBPV (49.30%, 24.00% and 6.70%, respectively). Except for DWV, the prevalence of the remaining three viruses significantly varied between the regions. No significant differences were found between colony strength and either (i) the prevalence of DWV, ABPV, SBV, CBPV and their combinations, or (ii) DWV infection levels. The sequences of honey bee viruses obtained from bees in Serbia were 93-99% identical with those deposited in GenBank.

12.
Menopause ; 25(4): 444-450, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29088014

RESUMO

OBJECTIVE: Cross-cultural validation of the Serbian version of the Modified Falls Efficacy Scale (MFES). METHODS: This cross-sectional study involved 257 women aged 65 years and above who were referred for dual-energy x-ray absorptiometry examination at the Railway Healthcare Institute in Belgrade, Serbia, between January and April 2016. Data collection comprised of a sociodemographic questionnaire and Geriatric Depression Scale-Short Form (GDS-SF) questionnaire, and data related to fractures, level of physical activity, use of medications that can increase the risk of falls, and frequency of falls in the past 12 months. None of the study participants had been previously treated for osteoporosis. The internal consistency of the questionnaire items was assessed via Cronbach's alpha, whereas the interclass correlation coefficient (ICC) was used to calculate test-retest reliability based on the sample of 257 women. We also evaluated concurrent, convergent, and construct validity. RESULTS: Cronbach's alpha for the total assay score was 0.98. Correlations among the items ranged from 0.84 to 0.93. While ICC for the scale as a whole was 0.99 (95% confidence interval 0.98-0.99), ICC pertaining to individual items ranged from 0.82 to 0.99. Concurrent validity analysis revealed a significant positive correlation between MFES scores and the reported level of physical activity (ρ = 0.34; P < 0.01). Convergent validity was tested through the ratio of MFES and sociodemographic variables. The findings indicated presence of a significant negative correlation between the MFES scores and age (ρ = -0.32; P < 0.01), age of menopause onset (ρ = -0.16; P = 0.01), and GDS-SF scores (ρ = -0.12; P = 0.04), and positive correlation between MFES and the level of social activity (ρ = 0.22; P < 0.01). Significant differences were noted between the MFES scores of participants who had no history fractures and those who did (U = 5277.50; P < 0.01), and between scores of women who reported falling in the past 12 months and those who did not (U = 4968.50; P < 0.01). Similarly, significant differences (P < 0.01) in the scores pertaining to each MFES item were observed between women who had experienced falls in the past (n = 101) and those who had not (n = 156). CONCLUSION: The Serbian version of the MFES is a reliable and valid instrument that can be used in both clinical practice and research to describe and measure self-perceived fear of falling in older individuals.


Assuntos
Acidentes por Quedas/prevenção & controle , Avaliação Geriátrica/estatística & dados numéricos , Menopausa , Inquéritos e Questionários/normas , Saúde da Mulher , Idoso , Comparação Transcultural , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Fraturas por Osteoporose/prevenção & controle , Psicometria , Reprodutibilidade dos Testes , Fatores de Risco , Sérvia
13.
Ann Hum Biol ; 44(5): 408-418, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28140657

RESUMO

BACKGROUND: Available mitochondrial (mtDNA) data demonstrate genetic differentiation among South Slavs inhabiting the Balkan Peninsula. However, their resolution is insufficient to elucidate the female-specific aspects of the genetic history of South Slavs, including the genetic impact of various migrations which were rather common within the Balkans, a region having a turbulent demographic history. AIM: The aim was to thoroughly study complete mitogenomes of Serbians, a population linking westward and eastward South Slavs. SUBJECTS AND METHODS: Forty-six predominantly Serbian super-haplogroup U complete mitogenomes were analysed phylogenetically against ∼4000 available complete mtDNAs of modern and ancient Western Eurasians. RESULTS: Serbians share a number of U mtDNA lineages with Southern, Eastern-Central and North-Western Europeans. Putative Balkan-specific lineages (e.g. U1a1c2, U4c1b1, U5b3j, K1a4l and K1a13a1) and lineages shared among Serbians (South Slavs) and West and East Slavs were detected (e.g. U2e1b1, U2e2a1d, U4a2a, U4a2c, U4a2g1, U4d2b and U5b1a1). CONCLUSION: The exceptional diversity of maternal lineages found in Serbians may be associated with the genetic impact of both autochthonous pre-Slavic Balkan populations whose mtDNA gene pool was affected by migrations of various populations over time (e.g. Bronze Age pastoralists) and Slavic and Germanic newcomers in the early Middle Ages.


Assuntos
DNA Mitocondrial/genética , Variação Genética , Genoma Mitocondrial , Haplótipos/genética , Humanos , Sérvia
14.
Nature ; 534(7607): 335-40, 2016 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-27306184

RESUMO

Whether protein synthesis and cellular stress response pathways interact to control stem cell function is currently unknown. Here we show that mouse skin stem cells synthesize less protein than their immediate progenitors in vivo, even when forced to proliferate. Our analyses reveal that activation of stress response pathways drives both a global reduction of protein synthesis and altered translational programmes that together promote stem cell functions and tumorigenesis. Mechanistically, we show that inhibition of post-transcriptional cytosine-5 methylation locks tumour-initiating cells in this distinct translational inhibition programme. Paradoxically, this inhibition renders stem cells hypersensitive to cytotoxic stress, as tumour regeneration after treatment with 5-fluorouracil is blocked. Thus, stem cells must revoke translation inhibition pathways to regenerate a tissue or tumour.


Assuntos
Biossíntese de Proteínas , Células-Tronco/fisiologia , Estresse Fisiológico , Animais , Diferenciação Celular , Proliferação de Células/efeitos dos fármacos , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/metabolismo , Transformação Celular Neoplásica/patologia , Citosina/metabolismo , Feminino , Fluoruracila/farmacologia , Folículo Piloso/citologia , Folículo Piloso/metabolismo , Humanos , Masculino , Metilação , Metiltransferases/deficiência , Metiltransferases/genética , Metiltransferases/metabolismo , Camundongos , Células-Tronco Neoplásicas/metabolismo , Células-Tronco Neoplásicas/patologia , RNA de Transferência/genética , RNA de Transferência/metabolismo , Regeneração , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Células-Tronco/citologia , Estresse Fisiológico/genética
15.
Am J Phys Anthropol ; 156(3): 449-65, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25418795

RESUMO

Although south-Slavic populations have been studied to date from various aspects, the population of Serbia, occupying the central part of the Balkan Peninsula, is still genetically understudied at least at the level of mitochondrial DNA (mtDNA) variation. We analyzed polymorphisms of the first and the second mtDNA hypervariable segments (HVS-I and HVS-II) and informative coding-region markers in 139 Serbians to shed more light on their mtDNA variability, and used available data on other Slavic and neighboring non-Slavic populations to assess their interrelations in a broader European context. The contemporary Serbian mtDNA profile is consistent with the general European maternal landscape having a substantial proportion of shared haplotypes with eastern, central, and southern European populations. Serbian population was characterized as an important link between easternmost and westernmost south-Slavic populations due to the observed lack of genetic differentiation with all other south-Slavic populations and its geographical positioning within the Balkan Peninsula. An increased heterogeneity of south Slavs, most likely mirroring turbulent demographic events within the Balkan Peninsula over time (i.e., frequent admixture and differential introgression of various gene pools), and a marked geographical stratification of Slavs to south-, east-, and west-Slavic groups, were also found. A phylogeographic analyses of 20 completely sequenced Serbian mitochondrial genomes revealed not only the presence of mtDNA lineages predominantly found within the Slavic gene pool (U4a2a*, U4a2a1, U4a2c, U4a2g, HV10), supporting a common Slavic origin, but also lineages that may have originated within the southern Europe (H5*, H5e1, H5a1v) and the Balkan Peninsula in particular (H6a2b and L2a1k).


Assuntos
DNA Mitocondrial/genética , Variação Genética/genética , Antropologia Física , Genética Populacional , Haplótipos/genética , Humanos , Filogeografia , Análise de Componente Principal , Sérvia
16.
Appl Transl Genom ; 5: 3-10, 2015 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-26937352

RESUMO

Modern genomic approaches have made enormous contributions to improving our understanding of the function, development and evolution of the nervous system, and the diversity within and between species. However, most of these research advances have been recorded in countries with advanced scientific resources and funding support systems. On the contrary, little is known about, for example, the possible interplay between different genes, non-coding elements and environmental factors in modulating neurological diseases among populations in low-income countries, including many African countries. The unique ancestry of African populations suggests that improved inclusion of these populations in neuroscience-related genomic studies would significantly help to identify novel factors that might shape the future of neuroscience research and neurological healthcare. This perspective is strongly supported by the recent identification that diseased individuals and their kindred from specific sub-Saharan African populations lack common neurological disease-associated genetic mutations. This indicates that there may be population-specific causes of neurological diseases, necessitating further investigations into the contribution of additional, presently-unknown genomic factors. Here, we discuss how the development of neurogenomics research in Africa would help to elucidate disease-related genomic variants, and also provide a good basis to develop more effective therapies. Furthermore, neurogenomics would harness African scientists' expertise in neuroscience, genomics and bioinformatics to extend our understanding of the neural basis of behaviour, development and evolution.

17.
F1000Res ; 3: 271, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25653839

RESUMO

One of the foundations of the scientific method is to be able to reproduce experiments and corroborate the results of research that has been done before. However, with the increasing complexities of new technologies and techniques, coupled with the specialisation of experiments, reproducing research findings has become a growing challenge. Clearly, scientific methods must be conveyed succinctly, and with clarity and rigour, in order for research to be reproducible. Here, we propose steps to help increase the transparency of the scientific method and the reproducibility of research results: specifically, we introduce a peer-review oath and accompanying manifesto. These have been designed to offer guidelines to enable reviewers (with the minimum friction or bias) to follow and apply open science principles, and support the ideas of transparency, reproducibility and ultimately greater societal impact. Introducing the oath and manifesto at the stage of peer review will help to check that the research being published includes everything that other researchers would need to successfully repeat the work. Peer review is the lynchpin of the publishing system: encouraging the community to consciously (and conscientiously) uphold these principles should help to improve published papers, increase confidence in the reproducibility of the work and, ultimately, provide strategic benefits to authors and their institutions.

18.
BMC Genomics ; 14: 861, 2013 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-24314314

RESUMO

BACKGROUND: Group B Sox domain transcription factors play conserved roles in the specification and development of the nervous system in higher metazoans. However, we know comparatively little about how these transcription factors regulate gene expression, and the analysis of Sox gene function in vertebrates is confounded by functional compensation between three closely related family members. In Drosophila, only two group B Sox genes, Dichaete and SoxN, have been shown to function during embryonic CNS development, providing a simpler system for understanding the functions of this important class of regulators. RESULTS: Using a combination of transcriptional profiling and genome-wide binding analysis we conservatively identify over 1000 high confidence direct Dichaete target genes in the Drosophila genome. We show that Dichaete plays key roles in CNS development, regulating aspects of the temporal transcription factor sequence that confer neuroblast identity. Dichaete also shows a complex interaction with Prospero in the pathway controlling the switch from stem cell self-renewal to neural differentiation. Dichaete potentially regulates many more genes in the Drosophila genome and was found to be associated with over 2000 mapped regulatory elements. CONCLUSIONS: Our analysis suggests that Dichaete acts as a transcriptional hub, controlling multiple regulatory pathways during CNS development. These include a set of core CNS expressed genes that are also bound by the related Sox2 gene during mammalian CNS development. Furthermore, we identify Dichaete as one of the transcription factors involved in the neural stem cell transcriptional network, with evidence supporting the view that Dichaete is involved in controlling the temporal series of divisions regulating neuroblast identity.


Assuntos
Proteínas de Drosophila/metabolismo , Drosophila/genética , Drosophila/metabolismo , Desenvolvimento Embrionário/genética , Regulação da Expressão Gênica no Desenvolvimento , Fatores de Transcrição SOX/metabolismo , Transcrição Gênica , Animais , Sítios de Ligação , Sistema Nervoso Central/embriologia , Sistema Nervoso Central/metabolismo , Drosophila/embriologia , Proteínas de Drosophila/genética , Perfilação da Expressão Gênica , Mutação , Placa Neural/embriologia , Placa Neural/metabolismo , Motivos de Nucleotídeos , Matrizes de Pontuação de Posição Específica , Ligação Proteica , Fatores de Transcrição SOX/genética , Transdução de Sinais
19.
Genome Biol ; 14(11): 215, 2013 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-24286375

RESUMO

The post-transcriptional modification 5-methylcytosine (m5C) occurs in a wide range of coding and non-coding RNAs. We describe transcriptome-wide approaches to capture the global m5C RNA methylome. We also discuss the potential functions of m5C in RNA and compare them to 6-methyladenosine modifications.


Assuntos
5-Metilcitosina/metabolismo , Epigênese Genética , Processamento Pós-Transcricional do RNA , Transcriptoma , Adenosina/análogos & derivados , Adenosina/metabolismo , Animais , Células Cultivadas , Humanos , Camundongos , RNA não Traduzido/metabolismo
20.
Database (Oxford) ; 2013: bat060, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23935057

RESUMO

Common metabolic and endocrine diseases such as diabetes affect millions of people worldwide and have a major health impact, frequently leading to complications and mortality. In a search for better prevention and treatment, there is ongoing research into the underlying molecular and genetic bases of these complex human diseases, as well as into the links with risk factors such as obesity. Although an increasing number of relevant genomic and proteomic data sets have become available, the quantity and diversity of the data make their efficient exploitation challenging. Here, we present metabolicMine, a data warehouse with a specific focus on the genomics, genetics and proteomics of common metabolic diseases. Developed in collaboration with leading UK metabolic disease groups, metabolicMine integrates data sets from a range of experiments and model organisms alongside tools for exploring them. The current version brings together information covering genes, proteins, orthologues, interactions, gene expression, pathways, ontologies, diseases, genome-wide association studies and single nucleotide polymorphisms. Although the emphasis is on human data, key data sets from mouse and rat are included. These are complemented by interoperation with the RatMine rat genomics database, with a corresponding mouse version under development by the Mouse Genome Informatics (MGI) group. The web interface contains a number of features including keyword search, a library of Search Forms, the QueryBuilder and list analysis tools. This provides researchers with many different ways to analyse, view and flexibly export data. Programming interfaces and automatic code generation in several languages are supported, and many of the features of the web interface are available through web services. The combination of diverse data sets integrated with analysis tools and a powerful query system makes metabolicMine a valuable research resource. The web interface makes it accessible to first-time users, whereas the Application Programming Interface (API) and web services provide convenient data access and tools for bioinformaticians. metabolicMine is freely available online at http://www.metabolicmine.org Database URL: http://www.metabolicmine.org.


Assuntos
Bases de Dados Genéticas , Bases de Dados de Proteínas , Doenças Metabólicas/genética , Doenças Metabólicas/metabolismo , Proteômica , Pesquisa , Animais , Estudos de Associação Genética , Humanos , Internet , Camundongos , Ratos
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