bluuebunny/crossref_metadata_2025_split huggingface dataset:
A myocardial infarction genetic risk score is associated with markers of carotid atherosclerosis
Authors: Hamrefors V. , Hedblad B. , Engström G. , Almgren P. , Sjögren M. , Melander O. 
Published: October 2011

Abstract.  Hamrefors V, Hedblad B, Engström G, Almgren P, Sjögren M, Melander O (Lund University, Malmö, Sweden). A myocardial infarction genetic risk score is associated with markers of carotid atherosclerosis. J Intern Med 2012; 271: 271–281.Objective.  To assess whether or not a genetic risk score that was previously shown to be associated with myocardial infarction (MI) and coronary artery disease (CAD) is also associated with markers of carotid atherosclerosis.Design.  A total of 4022 middle‐aged subjects from the general Swedish population were genotyped and individually assigned a genetic risk score based on 13 single‐nucleotide polymorphisms (SNPs), previously associated with MI and CAD. The genetic score (Score‐MI) was then related to carotid bulb intima–media thickness (IMT), common carotid artery (CCA) IMT and to the occurrence of carotid plaques in the study population.Results.  Score‐MI was associated with IMT of the bulb (P < 0.001) and the CCA (P < 0.001) in unadjusted analyses, and with IMT of the bulb after adjustment for cardiovascular risk factors (P = 0.003). The effect size of Score‐MI on IMT of the bulb was similar to that of LDL cholesterol. After adjustment for cardiovascular risk factors, Score‐MI was also associated with the occurrence of carotid plaques (odds ratio per quintile of Score‐MI = 1.11; 95% confidence interval 1.04–1.18; P = 0.001). In addition to SNPs with known effects on LDL levels, Score‐MI showed nominal associations with increasing systolic blood pressure and decreasing C‐reactive protein levels.Conclusions.  This genetic risk score was independently associated with carotid bulb IMT and carotid plaques, providing evidence of an association with early markers of atherosclerosis. This might imply that the genetic MI risk conferred by the score is related to early atherosclerosis and that the risk score may identify at an early stage candidates at risk of developing intermediate phenotypes of atherosclerosis. Further studies should test whether or not assessing the genetic score could be valuable for early treatment decisions in these subjects.
Polydactyly in the largest New World fruit bat, Artibeus lituratus
Authors: GONÇALVES Fernando , FISCHER Erich , CARVALHO Luiz Felipe Alves da Cunha , FERREIRA Cláudia Márcia Marily 
Published: October 2011

ABSTRACTPolydactyly in bats has rarely been observed; a few cases are recorded for insectivorous molossid and vespertilionid species in North America. Here we report polydactyly in the foliage‐roosting phyllostomid Artibeus lituratus, in the southern Pantanal floodplain and adjacent uplands, Brazil. Bats were mist‐netted in six populations, and capture rate per population was estimated. Of 444 A. lituratus individuals sampled, one female and one male exhibited supernumerary toes. These cases occurred in the two densest populations, in sites where forests are distributed in small disconnected fragments. This situation could favour increased inbreeding in A. lituratus and, indirectly, the manifestation of polydactyly.
Mycobacterium smegmatis RNase J is a 5′‐3′ exo‐/endoribonuclease and both RNase J and RNase E are involved in ribosomal RNA maturation
Authors: Taverniti Valerio , Forti Francesca , Ghisotti Daniela , Putzer Harald 
Published: October 2011

SummaryThe presence of very different sets of enzymes, and in particular the presence of RNase E and RNase J, has been used to explain significant differences in RNA metabolism between the two model organisms Escherichia coli and Bacillus subtilis. However, these studies might have somewhat polarized our view of RNA metabolism. Here, we identified a RNase J in Mycobacterium smegmatis that has both 5′‐3′ exo‐ and endonucleolytic activity. This enzyme coexists with RNase E in this organism, a configuration that enabled us to study how these two key nucleases collaborate. We demonstrate that RNase E is responsible for the processing of the furA‐katG transcript in M. smegmatis and that both RNase E and RNase J are involved in the 5′ end processing of all ribosomal RNAs. In contrast to B. subtilis, the activity of RNase J, although required in vivo for 23S rRNA maturation, is not essential in M. smegmatis. We show that the pathways for ribosomal RNA maturation in M. smegmatis are quite different from those observed in E. coli and in B. subtilis. Studying organisms containing different combinations of key ribonucleases can thus significantly broaden our view of the possible strategies that exist to direct RNA metabolism.
Type 4 metallothionein genes are involved in regulating Zn ion accumulation in late embryo and in controlling early seedling growth in Arabidopsis
Authors: REN YUJUN , LIU YANG , CHEN HONGYU , LI GANG , ZHANG XUELIAN , ZHAO JIE 
Published: October 2011

ABSTRACTType 4 metallothionein (MT) genes are recognized for their specific expression in higher plant seeds, but their functions are still unclear. In this study, the functions of two Arabidopsis metallothionein genes, AtMT4a and AtMT4b, are investigated in seed development, germination and early seedling growth. Transcriptional analysis showed that these two genes are specifically expressed in late embryos. Subcellular localization displayed that both AtMT4a and AtMT4b are widespread distributed in cytoplasm, nucleus and membrane. Co‐silencing RNAi of AtMT4a and AtMT4b reduced seed weight and influenced the early seedling growth after germination, whereas overexpression of these two genes caused the opposite results. Detailed analysis showed clearly the correlation of AtMT4a and AtMT4b to the accumulation of some important metal ions in late embryos, especially to Zn ion storing in seeds, which then serves as part of early Zn ion resources for post‐germinated seedling growth. Furthermore, phytohormone abscisic acid (ABA) and gibberellic acid (GA) may play roles in regulating the expression and function of AtMT4a and AtMT4b during seed development; and this may influence Zn accumulation in seeds and Zn ion nutrient supplementation in the early seedling growth after germination.
Array‐Based Sequence Capture and Next‐Generation Sequencing for the Identification of Primary Immunodeficiencies
Authors: Ghosh S. , Krux F. , Binder V. , Gombert M. , Niehues T. , Feyen O. , Laws H.‐J. , Borkhardt A. ,   on behalf of PID‐NET: German Network on Primary Immunodeficiency Diseases
Published: October 2011

AbstractPrimary immunodeficiencies are genetic disorders in which components of immunological pathways are either missing or dysregulated. With the advent of next‐generation sequencing, testing for genes in conditions with a heterogeneous genetic background seems more promising. We designed a custom microarray with 385K probe capacity to capture exons of 395 human genes, known or predicted to be associated with primary immunodeficiency and immune regulation. Enriched target DNA was sequenced using a GS FLX Titanium 454 platform. The patients selected were likely to have an underlying immunodeficiency. In one patient with hepatosplenomegaly, recurrent infections and an elevated IgM level, sequence analysis of the patient and his two unaffected parents identified ATM (ataxia telangiectasia mutated) as the underlying defect. In a second child with a clinical SCID phenotype, we detected a mutation in the ARTEMIS gene after focusing on SCID‐associated genes. 454 sequencing yielded 152,000–397,000 high‐quality reads per patient. 78–99% of the targeted nucleotides were covered at least one time, 76–82% at least five times. Array‐based sequence capture expands our capacities to sequence large targeted DNA regions in a less laborious and time‐consuming approach. Our array was capable to find the underlying genetic defect in two patients with suspected primary immunodeficiency. Upcoming whole‐exome sequencing definitely will add more valuable data, but bioinformatical analysis and validation of variants already pose major challenges.
Establishment of a Lotus japonicus gene tagging population using the exon‐targeting endogenous retrotransposon LORE1
Authors: Fukai Eigo , Soyano Takashi , Umehara Yosuke , Nakayama Shinobu , Hirakawa Hideki , Tabata Satoshi , Sato Shusei , Hayashi Makoto 
Published: October 2011

SummaryWe established a gene tagging population of the model legume Lotus japonicus using an endogenous long terminal repeat (LTR) retrotransposon Lotus Retrotransposon 1 (LORE1). The population was composed of 2450 plant lines, from which a total of 4532 flanking sequence tags of LORE1 were recovered by pyrosequencing. The two‐dimensional arrangement of the plant population, together with the use of multiple identifier sequences in the primers used to amplify the flanking regions, made it possible to trace insertions back to the original plant lines. The large‐scale detection of new LORE1 insertion sites revealed a preference for genic regions, especially in exons of protein‐coding genes, which is an interesting feature to consider in the interaction between host genomes and chromoviruses, to which LORE1 belongs, a class of retrotransposon widely distributed among plants. Forward screening of the symbiotic mutants from the population succeeded to identify five symbiotic mutants of known genes. These data suggest that LORE1 is robust as a genetic tool.
ARVs and cash too: caring and supporting people living with HIV/AIDS with the Malawi Social Cash Transfer
Authors: Miller C. , Tsoka M. G. 
Published: October 2011

SummaryObjectives  The Malawian Social Cash Transfer Scheme (SCT) is a social protection programme for ultra poor and labour‐constrained households, including people living with HIV/AIDS (PLWHA). We aimed to gain insight into respondents’ circumstances prior to becoming transfer beneficiaries and to examine how PLWHA used transfers to support themselves and their families.Methods  We conducted 24 semi‐structured qualitative interviews with PLWHA who were also SCT beneficiaries and living in villages where the scheme was operational in 2008.Results  Respondents were destitute and lacked food and basic necessities prior to the transfer. As cash recipients, the majority of respondents reported positive impacts on health, food security and economic well‐being as well as an improved ability to care for their families.Conclusion  Important unanswered programmatic questions persist, such as ‘What is the appropriate transfer level?’ And ‘Should recipients graduate from the scheme?’ Moreover, the scheme’s long‐term sustainability is still unclear. Nevertheless, this analysis presents evidence describing how PLWHA used cash transfers to improve their situation and mitigate the impact of HIV/AIDS on families.
Valuing gene testing in children with possible neurofibromatosis 1
Authors: Tsang E , Birch P , Friedman JM 
Published: October 2011

Tsang E, Birch P, Friedman JM. Valuing gene testing in children with possible neurofibromatosis 1.With the growing number of clinical guidelines recommending genetics tests in routine clinical care, the value of these tests should be evaluated. We examined the economic value of offering genetic testing to children with possible neurofibromatosis 1 (NF1) in British Columbia. Diagnosis of NF1 is usually made based on diagnostic clinical criteria, but molecular diagnostic testing, currently offered on a case‐by‐case basis in BC, now reliably diagnoses NF1 in 95% of cases. Children who present with some clinical features but whose findings are insufficient to meet the diagnostic criteria are labelled as having ‘possible NF1’. Current guidelines call for these children to be followed as they have NF1, leading to annual ophthalmologic examinations and screening for complications; thus, there are increased costs to health care system. We created a model to account for these costs to the health care system, comparing the current protocol with one that would offer all children diagnosed with possible NF1 with genetic testing. Focusing on the incremental cost allowed us to determine that genetic testing provides good value, and patient interviews provided insight into the qualitative benefits of an earlier firm diagnosis. These findings may be helpful in guiding health policy decision‐making.
Serum TARC and CTACK concentrations in children with atopic dermatitis, allergic asthma, and urticaria
Authors: Machura Edyta , Rusek‐Zychma Małgorzata , Jachimowicz Magdalena , Wrzask Magdalena , Mazur Bogdan , Kasperska‐Zajac Alicja 
Published: October 2011

To cite this article: Machura E, Rusek‐Zychma M, Jachimowicz M, Wrzask M, Mazur B, Kasperska‐Zajac A. Serum TARC and CTACK concentrations in children with atopic dermatitis, allergic asthma, and urticaria. Pediatr Allergy Immunol 2012: 23: 278–284.AbstractBackground:  Thymus and activation–regulated chemokine (TARC/CCL17) and cutaneous T cell‐attracting chemokine (CTACK/CCL27) belong to the CC chemokine family, which plays an important role in immune‐inflammatory processes. It has been demonstrated that serum concentrations of TARC and CTACK are increased in patients with various allergic diseases.Aim:  To compare serum TARC and CTACK concentrations between children with different clinical manifestation of mast cell–dependent diseases, such as atopic allergy and urticaria.Methods:  A total of 87 children including 26 with mild to severe atopic dermatitis (AD), 43 children with controlled allergic asthma symptoms (treated and untreated with anti‐inflammatory drugs), and 18 children with urticaria were recruited into the study. The control group consisted of 31 healthy non‐atopic children.Results:  Serum concentrations of TARC and CTACK were significantly higher in children with AD than in healthy controls. No significant differences in serum concentrations of the chemokines between asthmatics, urticaria patients, and healthy controls were found. The severity of AD symptoms significantly correlated with serum CTACK and TARC concentrations.Conclusion:  These findings, in conjunction with earlier data, indicate that differences may exist in circulating concentrations of TARC and CTACK, between patients with atopic allergy and urticaria.
The transcription factor SP4 is reduced in postmortem cerebellum of bipolar disorder subjects: control by depolarization and lithium
Authors: Pinacho Raquel , Villalmanzo Nuria , Lalonde Jasmin , Haro Josep Maria , Meana J Javier , Gill Grace , Ramos Belén 
Published: October 2011

Pinacho R, Villalmanzo N, Lalonde J, Haro JM, Meana JJ, Gill G, Ramos B. The transcription factor SP4 is reduced in postmortem cerebellum of bipolar disorder subjects: control by depolarization and lithium. Bipolar Disord 2011: 13: 474–485. © 2011 The Authors. Journal compilation © 2011 John Wiley & Sons A/S.Objectives:  Regulation of gene expression is important for the development and function of the nervous system. However, the transcriptional programs altered in psychiatric diseases are not completely characterized. Human gene association studies and analysis of mutant mice suggest that the transcription factor specificity protein 4 (SP4) may be implicated in the pathophysiology of psychiatric diseases. We hypothesized that SP4 levels may be altered in the brain of bipolar disorder (BD) subjects and regulated by neuronal activity and drug treatment.Methods:  We analyzed messenger RNA (mRNA) and protein levels of SP4 and SP1 in the postmortem prefrontal cortex and cerebellum of BD subjects (n = 10) and controls (n = 10). We also examined regulation of SP4 mRNA and protein levels by neuronal activity and lithium in rat cerebellar granule neurons.Results:  We report a reduction of SP4 and SP1 proteins, but not mRNA levels, in the cerebellum of BD subjects. SP4 protein and mRNA levels were also reduced in the prefrontal cortex. Moreover, we found in rat cerebellar granule neurons that under non‐depolarizing conditions SP4, but not SP1, was polyubiquitinated and degraded by the proteasome while lithium stabilized SP4 protein.Conclusions:  Our study provides the first evidence of altered SP4 protein in the cerebellum and prefrontal cortex in BD subjects supporting a possible role of transcription factor SP4 in the pathogenesis of the disease. In addition, our finding that SP4 stability is regulated by depolarization and lithium provides a pathway through which neuronal activity and lithium could control gene expression suggesting that normalization of SP4 levels could contribute to treatment of affective disorders.
Four mood stabilizers commonly induce FEZ1 expression in human astrocytes
Authors: Yu Zhiqian , Ono Chiaki , Kim Helen B , Komatsu Hiroshi , Tanabe Yoichiro , Sakae Nobutaka , Nakayama Keiichi I , Matsuoka Hiroo , Sora Ichiro , Bunney William E , Tomita Hiroaki 
Published: October 2011

Yu Z, Ono C, Kim HB, Komatsu H, Tanabe Y, Sakae N, Nakayama KI, Matsuoka H, Sora I, Bunney WE, Tomita H. Four mood stabilizers commonly induce FEZ1 expression in human astrocytes. Bipolar Disord 2011: 13: 486–499. © 2011 The Authors. Journal compilation © 2011 John Wiley & Sons A/S.Objectives:  Mood stabilizers influence the morphology, chemotaxis, and survival of neurons, which are considered to be related to the mood‐stabilizing effects of these drugs. Although previous studies suggest glial abnormalities in patients with bipolar disorder and an effect of mood stabilizers on certain genes in astrocytes, less is known about the effects of mood stabilizers in astrocytes than in neurons. The present study identifies a common underlying response to mood stabilizers in astrocytes.Methods:  Human astrocyte‐derived cells (U‐87 MG) were treated with the four most commonly used mood stabilizers (lithium, valproic acid, carbamazepine, and lamotrigine) and subjected to microarray gene expression analyses. The most prominently regulated genes were validated by qRT‐PCR and western blot analysis. The intercellular localization of one of these regulated genes, fasciculation and elongation protein zeta 1 (FEZ1), was evaluated by immunofluorescence staining.Results:  The microarray data indicated that FEZ1 was the only gene commonly induced by the four mood stabilizers in human astrocyte‐derived cells. An independent experiment confirmed astrocytic FEZ1 induction at both the transcript and protein levels following mood stabilizer treatments. FEZ1 localized to the cytoplasm of transformed and primary astrocytes from the human adult brain.Conclusions:  Our data suggest that FEZ1 may play important roles in human astrocytes, and that mood stabilizers might exert their cytoprotective and mood‐stabilizing effects by inducing FEZ1 expression in astrocytes.
Could the use of energy drinks induce manic or depressive relapse among abstinent substance use disorder patients with comorbid bipolar spectrum disorder?
Authors: Rizkallah Élie , Bélanger Michèle , Stavro Katherine , Dussault Maxime , Pampoulova Tania , Chiasson Jean‐Pierre , Potvin Stéphane 
Published: October 2011

Rizkallah É, Bélanger M, Stavro K, Dussault M, Pampoulova T, Chiasson J‐P, Potvin S. Could the use of energy drinks induce manic or depressive relapse among abstinent substance use disorder patients with comorbid bipolar spectrum disorder? Bipolar Disord 2011: 13: 578–580. © 2011 The Authors. Journal compilation © 2011 John Wiley & Sons A/S.Objective:  The potential harmful effects of excessive caffeine consumption remain largely unknown among psychiatric populations. Energy drinks have particularly high levels of caffeine content and have previously been shown to induce psychotic relapse. Clinical observations of three bipolar disorder patients with comorbid substance use disorder revealed an excessive consumption of energy drinks prior to manic or depressive relapse.Background:  Three patients with bipolar spectrum disorder and comorbid substance use disorder were assessed by a psychiatrist upon re‐admission to a rehabilitation centre following manic or depressive relapse. The assessment was based on DSM‐IV criteria and performed by a psychiatrist who specialized in bipolar spectrum disorder and comorbidities to determine the presence of manic or depressive relapse. Two patients were diagnosed with bipolar disorder type I, and the third with bipolar disorder type II. All three patients were diagnosed with comorbid substance use disorders and all three abused cocaine.Results:  In all three cases, relapse occurred following at least one week of excessive binging on energy drinks, with a maximum daily consumption of nine cans. Following cessation of energy drink consumption, two of the patients remained abstinent from drug use and maintained psychiatric stability. One patient relapsed three months post‐treatment and resumed consuming cocaine and energy drinks.Conclusions:  These clinical observations support other case reports that suggest the existence of a potential correlation between excessive energy drink consumption and relapse among psychiatric populations.
The expression of pectin methylesterase in onion flower buds is associated with the dominant male‐fertility restoration allele
Authors: Huo Yumeng , Miao Jun , Liu Bingjiang , Yang Yanyan , Zhang Yihui , Tahara Yasuki , Meng Qingwei , He Qiwei , Kitano Hidemi , Wu Xiong 
Published: October 2011

With 6 figures and 2 tablesAbstractIn this study, we investigated differential gene expression in the flower buds of male‐fertile and male‐sterile pools by using the cDNA‐sequence‐related amplified polymorphism (SRAP) method and discovered a fragment that was specifically expressed in male‐fertile pool. Cloning and sequence analysis revealed that this differentially expressed sequence corresponded to a pectin methylesterase gene in Allium cepa (AcPME). This sequence was deposited in GenBank (GU384209). In male‐fertility‐restored line, AcPME was specifically expressed in tiny buds but not in roots, leaves and bulbs. In male‐sterile line and maintainer line, AcPME was not expressed in roots, leaves, bulbs or tiny buds. AcPME was differentially expressed during different flowering stages (I, II, III, IV and V). We developed a PCR‐based marker (WHR240) associated with the expression of AcPME. This marker was validated in six other onion lines; in each case, the male‐fertility‐restored onion was reliably identified. WHR240 therefore permits the efficient marker‐assisted selection of maintainer individuals in onion breeding programmes.
Effects of Cumulus Cells on In Vitro Maturation of Oocytes and Development of Cloned Embryos in the Pig
Authors: Ju S , Rui R 
Published: October 2011

ContentsThe purpose of this study was to investigate the role of porcine cumulus cells (CC) in oocyte maturation and somatic cell nuclear transfer (SCNT) embryo development in vitro. Denuded pig oocytes were co‐cultured with CC or routinely cultured in maturation medium without a feeder layer. Porcine CC inactivated with mitomycin C or non‐inactivated were used for the feeder layer in co‐culture with porcine SCNT embryos to investigate comparatively the developmental competence of cloned embryos. The DNA damage aspects of apoptosis and expression pattern of genes implicated in apoptosis (Fas/FasL) as well as the mRNA expression of DNA methyltransferase (Dnmt1, Dnmt3a) of porcine SCNT embryos were also evaluated by comet assay or real‐time RT‐PCR, respectively. The results showed that co‐culture with CC improved the extrusion rate of pbI (49.3% vs 31.5%, p < 0.05) and survival rate (75.7% vs 53.3%, p < 0.05) of denuded oocytes, but had no effects on blastocyst developmental rate or 2‐cell‐stage survival rate of in vitro fertilization embryos. Co‐culture with CC inactivated by mitomycin C improved the blastocyst developmental rate (26.6% vs 13.0%, p < 0.05) and decreased the apoptotic incidence (27.6% vs 46.2%, p < 0.05) of porcine cloned embryos. Co‐culture with inactivated CC reduced Fas and FasL mRNA expression of cloned embryos at the blastocyst stage compared with NT controls (p < 0.05), but there were no differences in Dnmt1 and Dnmt3a mRNA expression among groups. Co‐culture with inactivated cumulus cell monolayer significantly increased blastocyst formation and decreased the apoptotic incidence in porcine cloned embryos during in vitro development.