bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of Direct Renin Inhibition on Renal Hemodynamic Function, Arterial Stiffness, and Endothelial Function in Humans With Uncomplicated Type 1 Diabetes
Authors: Cherney David Z.I. , Lai Vesta , Scholey James W. , Miller Judith A. , Zinman Bernard , Reich Heather N. 
Published: November 2009

OBJECTIVE
Blockade of the renin-angiotensin system (RAS) plays an important role in preventing end-organ injury associated with diabetes. The recent development of direct renin inhibitors (DRIs) provides a new approach to block the RAS, but the effects of DRIs on renal and systemic vascular function in uncomplicated type 1 diabetes have not been elucidated.

RESEARCH DESIGN AND METHODS
Renal hemodynamic function (inulin and paraaminohippurate clearance), augmentation index and pulse wave velocity, endothelial dependent vasodilatation (flow-mediated dilation [FMD]), and endothelial independent vasodilatation (response to sublingual nitroglycerin) were evaluated before and after administration of aliskiren (300 mg daily for 30 days) in 10 adult subjects with uncomplicated type 1 diabetes during clamped euglycemia (4–6 mmol/l) and hyperglycemia (9–11 mmol/l).

RESULTS
In response to the DRI, plasma renin activity decreased (from 0.40 to 0.13 ng · ml−1 · h−1, P &lt; 0.05) and plasma renin increased (from 5.2 to 75.0 ng/l, P &lt; 0.05). Peripheral and central blood pressures decreased, and effective renal plasma flow and glomerular filtration rate increased during clamped euglycemia and hyperglycemia (P &lt; 0.05). The carotid augmentation index during clamped euglycemia decreased (from 26 ± 6 to 20 ± 5%, P &lt; 0.05) as did pulse wave velocity during clamped hyperglycemia (from 7.8 ± 0.6 to 6.8 ± 0.5 m/s, P &lt; 0.05). In response to the DRI, FMD increased during both clamped euglycemia (from 1.92 ± 1.13 to 5.55 ± 0.81%) and hyperglycemia (from 1.86 ± 0.98 to 5.63 ± 0.62) as did the vasodilatory response to sublingual nitroglycerin.

CONCLUSIONS
DRIs exert a renal vasodilatory effect and improve parameters of systemic vascular function, suggesting that blockade of the RAS with this new class of agents has important functional effects in subjects with uncomplicated type 1 diabetes.
Methionine in pattern control of Hydra
Authors: Berking Stefan , Hoffmann Uwe , Schäfer Mathias , Herrmann Klaus 
Published: November 2009

Abstract
The fresh water polyp Hydra is noted for its ability to regenerate missing body parts. Transplantation experiments indicate that the control of regeneration includes signalling over long distances. These signals appear to include diffusible morphogens, activators and inhibitors. In order to elucidate the nature of such signals, tissue of polyps was homogenized and fractionated. The fractions were tested for their ability to hinder head regeneration. The active factor within these fractions was determined to be methionine. Both the active fractions and L-methionine were found to antagonize not only head regeneration but also foot regeneration. Budding, the asexual means of reproduction, is antagonized. L-methionine acts in micromolar concentrations while the stereoisomer D-methionine does not. L-methionine may act by providing a methyl group in transmethylation processes.
Spring migration timing of Sylvia warblers in Tatarstan (Russia) 1957–2008
Authors: Askeyev Oleg , Sparks Tim , Askeyev Igor , Tryjanowski Piotr 
Published: November 2009

Abstract
The timing of when migrant birds return to breed is a key component of studies of the impact of climate change upon bird populations. However, such data are not distributed evenly across the World, and in the Northern Hemisphere are underrepresented in Asia and the east of Europe. Therefore, to help rectify this bias, we analysed first arrival dates (FAD) of four species of Sylvia warblers (Blackcap Sylvia atricapilla, Whitethroat S.communis, Lesser Whitethroat S.curruca and Garden Warbler S.borin) collected in the Tatarstan Republic of Russia between 1957 and 2008. Over the whole period the species returned to their breeding sites between three and six days earlier; these trends were significant except for Whitethroat. Advances in arrival were especially apparent in the two earlier species, Blackcap and Lesser Whitethroat, mainly because local temperatures for March had risen substantially. Except for Whitethroat, FADs were significantly related to temperatures in the African wintering ground and/or in Tatarstan. Whilst significant correlations occurred between FADs of some of the species, there was considerable variability in these relationships indicating a species-specific response to rising temperatures. Changes in FADs in this eastern extremity of Europe were smaller than in Central and Western Europe.
Investigation of saturated and aromatic hydrocarbon resistance mechanisms in Pseudomonas aeruginosa IBBML1
Authors: Lăzăroaie Mihaela 
Published: November 2009

Abstract
Pseudomonas aeruginosa IBBML1, isolated from Poeni petroleum sludge, was able to tolerate and degrade both saturated (n-hexane, n-heptane, n-hexadecane, cyclohexane) and aromatic (benzene, ethylbenzene, propylbenzene, xylene isomers, styrene) hydrocarbons. Molecular studies have revealed that the high hydrocarbon resistance of Pseudomonas aeruginosa IBBML1 could be due to the action of members of the HAE1 (hydrophobe/amphiphile efflux 1) family of transporters. It is further possible that additional mechanisms may account for the tolerance of Pseudomonas aeruginosa IBBML1 to hydrocarbons, and a combination of short-term and long-term mechanisms may act together in the adaptation of Pseudomonas aeruginosa IBBML1 cells to saturated and aromatic hydrocarbons. β-galactosidase activity measurements revealed that there was significant induction of the lacZ gene in Pseudomonas aeruginosa IBBML1 cells grown in the presence of either 5% and 10% (v/v) saturated or aromatic hydrocarbons, compared with control (cells incubated without hydrocarbons). Rhodamine 6G accumulation in Pseudomonas aeruginosa IBBML1 cells grown in the presence of 5% and 10% (v/v) saturated hydrocarbons was higher than rhodamine 6G accumulation in cells grown in the presence of 5% and 10% (v/v) aromatic hydrocarbons. The study of cellular and molecular modifications to Pseudomonas aeruginosa IBBML1 induced by 5% and 10% (v/v) saturated and aromatic hydrocarbons revealed a complex response of bacterial cells to the presence of different hydrophobic substrates in the culture medium.
GFP markers for studying D. melanogaster spermatogenesis
Authors: Nerusheva Olga , Dorogova Natalia , Omelyanchuk Leonid 
Published: November 2009

Abstract
Localization of a set of chimeric GFP proteins in D. melanogaster spermatogenesis has been studied. In the collection used, the proteins with detectable germ-line expression frequently occur to be involved in mRNA maturation. According to the cellular localization, proteins fall into three groups, namely, the protein Rtc1, involved in splicing, displays an exclusively nuclear localization; the proteins Squid (splicing and mRNA transport), Pabp2 (polyadenylation), and Hrb98DE (splicing and mRNA transport) change their localization during germ-line development; and the protein Imp (mRNA localization) is located exclusively in the cytoplasm. The distribution of Rtc1, Squid and Hrb98DE in the spermatocyte nuclei is morphologically similar to the distribution of splicing bodies, the so-called splicing factor compartments. The proteins Imp and Hrb98DE at the stage of elongation are localized to a specialized structure in the caudal region of cyst; this region corresponds to the site of the highest synthetic activity in the cyst cells at this developmental stage.
MART-1 transcript is absent in PBMCs from Vitiligo patients
Authors: Bam Marpe , Bagchi Tamishraha 
Published: November 2009

Abstract
Mechanisms occurring in the thymus and periphery are responsible for the generation and maintenance of tolerance in the immune system. Various reports have shown that the existence of an antigen in the peripheral circulation results in tolerance induction towards that protein. These observations imply that the lack of a self antigen can lead to induction of autoimmunity. Previously we have reported that Tyrosinase related protein-2 (TRP-2) transcripts from peripheral blood mononuclear cells (PBMCs) are absent in vitiligo patients but present in healthy individuals. Here, we show that MART1 (Melanoma antigen recognized by T cells) transcripts are not detected in the PBMCs of vitiligo patients but is detected in healthy controls. Our result suggests that as MART1 is not expressed in the PBMCs, MART1 is also not available for induction and maintenance of peripheral tolerance in vitiligo patients. We therefore conclude that nonexpression of MART1 in PBMCs of vitiligo patients may be somehow responsible for the tolerance breakdown finally resulting in the induction of autoimmunity seen against these self antigens in vitiligo.
Voice-supported Electronic Health Record for Temporomandibular Joint Disorders
Authors: Dostalova T. , Zvarova J. , Nagy M. , Seydlova M. , Hanzlicek P. , Kriz P. , Smidl L. , Trmal J. , Hippmann R. 
Published: November 2009

Summary
Objectives: To identify support of structured data entry for an electronic health record application in temporomandibular joint disorders.
Methods: The methods of structuring information in dentistry are described and the interactive DentCross component is introduced. A system of structured voice-supported data entry in electronic health record on several real cases in the field of dentistry is performed. The connection of this component to the MUDRLite electronic health record is described.
Results: The use of DentVoice, an application which consists of the electronic health record MUDRLite and the voice-controlled interactive component DentCross, to collect dental information required by temporomandibular joint disorders is shown.
Conclusions: The DentVoice application with the DentCross component showed the practical ability of the temporomandibular joint disorder treatment support.
Mosaicism
Authors: Robinson Wendy P. 
Published: November 2009

Abstract
Chromosome mosaicism is observed in all types of human tissues, and can be a difficult finding to interpret in the genetics clinic. Prenatally diagnosed mosaicism is particularly challenging as the range of possible outcomes extends from normal to fetal malformation and/or in utero death, while there is little the clinician can do to assess the effects on in utero fetal development. As very low levels of abnormal cells may be “normal,” the interpretation of a mosaic finding needs to be carefully considered in terms of the patient phenotype, the type and origin of the abnormality, and the extent of abnormal cells. Microchimerism, which can for example occur through exchange of cells between mother and fetus, can also lead to genetically distinct cell types within an individual, and is gaining a reputation for being involved in a wide range of autoimmune conditions. Much further work is needed to understand the long‐term effects of low‐level mosaicism and microchimerism in humans.
Beckwith–Wiedemann syndrome
Authors: Tycko Benjamin , Mannens Marcel 
Published: November 2009

AbstractBeckwith–Wiedemann syndrome (BWS) is a well‐studied human overgrowth disorder, associated with visceromegaly, exomphalos, and predisposition to Wilms tumor and other pediatric cancers.BWSis a clinical syndrome, not a single disorder. Phenotypic heterogeneity is prominent, and we now appreciate that this reflects an underlying molecular heterogeneity. The syndrome can be caused by various molecular defects, which lead to altered expression of certain imprinted genes on chromosome 11p15. Multiple studies have revealed striking epigenotype–phenotype correlations, in which exomphalos tracks with one type of imprinting defect, affecting theCDKN1Cgene, while Wilms tumor predisposition tracks with a different imprinting defect, affecting theIGF2andH19genes. Here we review the clinical and molecular features ofBWSand summarize the data from these recent investigations. We also review the fascinating association ofBWSwith twinning, and discuss preliminary studies suggesting an increased frequency ofBWSin children conceived by in vitro fertilization. Lastly, we provide an update on the more general role of imprinted genes as growth rheostats in mammalian development.
Imprinting in
P
rader–
W
illi and
A
ngelman syndromes
Authors: Horsthemke Bernhard , Buiting Karin 
Published: November 2009

Abstract
The Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic diseases that are caused by the loss of function of imprinted genes on the proximal long arm of human chromosome 15. The identification of small deletions in a subgroup of patients in whom the loss of gene function is due to an incorrect imprint on the paternal or the maternal chromosome 15, respectively, has lead to the definition of a bipartite imprinting center that regulates in cis imprint resetting and imprint maintenance in the whole domain. These findings have been confirmed and extended in knockout and transgenic mice. In the majority of patients with an imprinting defect, the incorrect imprint has arisen without a DNA sequence change, probably as the result of stochastic errors of the imprinting process. It is possible that the error rate is affected by genetic and exogenous factors.
Imprinting and behavior
Authors: Curley James P. , Keverne Eric B. 
Published: November 2009

Abstract

There is accumulating evidence for the role of imprinted genes in the regulation of mammalian behavior. Many imprinted genes are expressed in the brain and are important for its development. In particular, it appears that paternally and maternally expressed genes are critical for the normal development of the hypothalamus/limbic system and cortex/striatum respectively. Furthermore, several imprinted genes have been identified as candidate genes for human behavioral disorders. More recent research has focused on the behavioral phenotypic effects in mice carrying targeted mutations of specific imprinted genes. Two of these, the paternally expressed
Mest/Peg1
and
Peg3
genes, have been shown to regulate maternal care.
Epigenetic reprogramming in germ cells and preimplantation embryos
Authors: Kierszenbaum Abraham L. 
Published: November 2009

Abstract
DNA methylation and histone modifications are major epigenetic modifications with a major impact on gametogenesis and early embryo development. A key objective during these events is to erase and reprogram the methylation patterns to enable the developmental potential of the gametes and embryogenesis. A disruption of epigenetic reprogramming can lead to the dysregulation of developmental processes and to various diseases. Understanding the chronology and mechanism of epigenetic reprogramming during gametogenesis and in early development can lead to advances in therapeutic cloning and clinical intervention through assisted reproductive technology.
Epigenetic inheritance and
RNAi
at the centromere and heterochromatin
Authors: Caruana Scott Kristin S. , Sullivan Beth A. 
Published: November 2009

Abstract
RNA interference (RNAi) is a conserved gene silencing mechanism by which double‐stranded RNA (dsRNA) are processed into short interfering RNAs (siRNAs) that regulate gene expression and posttranscriptional modifications of histones. In fission yeast and vertebrates, RNAi is important for heterochromatin formation and silencing at centromeric regions. In this article, we discuss the landmark studies describing RNAi‐induced silencing at centromeres, and the multiprotein complexes that process centromeric repeats and recruit proteins that remodel and maintain centromeric heterochromatin. Finally, we briefly mention the genomic location of centromeres and the functional relevance for regulating essential chromosomal processes such as kinetochore assembly.
Techniques in genomic imprinting research
Authors: Gray Todd A. 
Published: November 2009

AbstractContemporary assays to evaluate candidate‐imprinted genes are varied, but they generally fall into two categories: those that assess monoallelic expression and those that assess DNA methylation. Parental origin‐dependent expression is the most definitive test for imprinted gene determination. Alternatively, cytosine DNA methylation is a measurable epigenetic feature that correlates with gene transcription and thus commonly serves as a DNA‐based indicator of monoallelic expression. Outlined below are approaches that examine both differential expression by RT‐PCR of transcribed polymorphisms, and differential cytosine methylation by amplification of bisulfite‐converted genomic DNA.
Immunity and tolerance induction in gene therapy
Authors: Davoust Jean , Bertho Nicolas , Masurier Carole , Gross David 
Published: November 2009

Abstract
Gene and cell therapies are promising for long‐term reconstitution of diseased tissues, and for restoration of therapeutic levels of circulating proteins, correcting inherited genetic disorders. Among the fundamental biological questions raised, the immune response to gene therapy is of great importance as it can hinder the success of gene correction. The onset of an immune response depends on the mutational genotype in each patient; the strength of antitransgene responses may also vary depending on gene delivery methods, based on plasmids, viral vectors or cell vectors, and on the route of injection. As a result, in most gene therapy protocols, the immune system will detect the packaging viral proteins and the transgene itself, causing humoral and cellular responses, which may lead to complete eradication of the corrected cells whenever the transgene protein behaves as a truly foreign antigen, that is, its sequence is partially or completely absent from the host. In this review, we will consider three main goals of immunology research in the field of gene therapy, namely, (1) deciphering dendritic cell/viral vector interactions, (2) inducing antigen‐specific tolerance for long‐term reconstitution of diseased tissues, and (3) monitoring immune responses to gene transfer in humanized animal models carrying HLA transgenes.
Adenovirus vectors
Authors: Lusky Monika 
Published: November 2009

AbstractRecombinant Adenovirus (Ad) vectors provide a highly versatile system of mammalian gene transfer and are widely used in basic research, in vaccine development, and for a variety of gene therapy applications, particularly for cancer gene therapy. These applications are facilitated by several important advantages of Ad over other vectors, including convenient and simple methods of vector construction, the efficient infection of quiescent cells, and their capacity to incorporate large segments of heterologous DNA. The number of gene therapy trials employing Ad vectors is expanding very rapidly. In parallel, developing Ad vectors for gene therapy has tremendously advanced our knowledge in Ad biology on viral tropism, duration of gene expression, toxicity, and immunogenicity. These advances have suggested a differential application of the different types of replication‐deficient and replication‐competent Ad vectors in gene medicine.
Microelectrophoresis devices for
DNA
sequencing
Authors: Ehrlich Daniel J. , Aborn James H. , El‐Difrawy Sameh A. , Gismondi Elizabeth A. , Lam Roger , McKenna Brian , O'Neil Thomas 
Published: November 2009

Abstract
Microfabricated instruments for DNA electrophoresis are poised to provide significant sequencing capability in the near term. The state of the art and key remaining issues for this technology are reviewed.
Mapping complex disease phenotypes
Authors: Collier David A. 
Published: November 2009

AbstractIdentifying genetic risk alleles for complex diseases has proved much more difficult than the identification of genetic risk alleles for single‐gene disorders. The mapping of complex phenotypes has required the development of new approaches to linkage analysis, the use of nonhuman models of disease, and new approaches to the fine mapping of disease genes, including genome‐wide association analysis. In this review, recent developments in these approaches are discussed in detail.
Haplotype mapping
Authors: Montpetit Alexandre , Chagnon Fanny , Hudson Thomas J. 
Published: November 2009

AbstractCommon human diseases such as asthma, diabetes, schizophrenia, and cancer are a major burden to industrialized nations in terms of clinical, social, and economic impacts. Understanding the contribution of genetic variants to the etiology of common diseases may bring improvements in preventive strategies, diagnostic tools, and therapies. To date, more than 1200 genes involved in the progression of simple rare Mendelian diseases have been identified. However, for common diseases, factors such as genetic heterogeneity, incomplete penetrance, gene‐gene, and gene‐environment interactions have hindered family based positional cloning strategies used for disease gene identification. Consequently, the detection of genetic variants leading to common diseases is still a major challenge for the biomedical community in 2004, despite the knowledge of the complete sequence of the human genome. Refinements to the existing gene‐mapping methods are thus necessary to overcome the existing hurdles. In this review, we will discuss the advantages and limitations of haplotype mapping in the search for common disease‐causing genes.
Transcriptional promoters
Authors: Wasserman Wyeth W. 
Published: November 2009

Abstract
Transcription serves as a primary mechanism for regulating the activity of most genes in the human genome. Multiple regulatory mechanisms act together to influence the rate of initiation of transcription from specific regions in genes termed promoters. Genes may contain multiple promoters, and promoters may contain multiple sites of transcript initiation. A brief biochemical background is presented, followed by an overview of the properties of promoters that facilitate laboratory detection and bioinformatics prediction.
Systematic mutagenesis of nonmammalian model species
Authors: van den Heuvel Marcel , Sattelle David 
Published: November 2009

AbstractThe recent accumulation of whole‐genome sequence information has led to the notion that the degree of evolutionary conservation between diverse organisms is very high. The number of genes going from a fly to human is only about twofold, and many of these “new” genes are duplicates of genes already existing, not novel genes. This in fact means that organisms that have been thoroughly studied using genetics offer a direct entrance into the function of highly conserved genes. Two of such organisms stand out because of the sophistication and thoroughness of the studies, the worm,Caenorhabditis elegans, and the fly,Drosophila melanogaster. This review attempts to give these two organisms a place in the current drive in gene function analysis.
TheMycoplasmas – a congruent path toward minimal life functions
Authors: Papazisi Leka , Peterson Scott N. 
Published: November 2009

AbstractTheMycoplasmasare a group of pathogenic bacteria with highly reduced genomes.The genomic era has allowed comparison ofMycoplasmagenomes to one another and to less‐related genomes. Genomic analysis of this bacterial group reveals several interesting aspects of minimal genome characteristics that have allowed us to devise a specific model to account for aspects of reductive evolution in theMycoplasmas.