bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cancer Cytogenetics
Authors: Roberts Paul 
Published: December 2008

AbstractThe development and progression of cancer is often associated with the acquisition of nonrandom chromosome aberrations. These can produce changes in gene loci, resulting in either the deregulated expression of an oncogene, the production of a chimaeric fusion gene or inactivation of a tumour suppressor gene (TSG). Chromosome aberrations are particularly important in the diagnosis, prognosis, progression, monitoring and treatment of acute and chronic leukaemia, small round cell tumours and central nervous system tumours. Numerical chromosome changes typically result in gain or loss of a few chromosomes, but can also produce changes in ploidy. Translocations, mostly affecting oncogenes, account for the majority of disease‐specific structural chromosome aberrations, whereas deletions are more important in TSGs. Knowledge of the nature and mechanisms of action of the genes involved is important in understanding how they contribute to the genesis, promotion and progression of this complex disease.Key conceptsChimaeric gene fusion – the most frequent, recurrent oncogenic change usually produced via chromosome translocation. Two previously separate and independent genes are fused to form a single unique contiguous gene, and the resultant gene product has oncogenic properties.Oncogene deregulation – juxtapositioning of an oncogene with the enhancer region of aT‐cell receptorgene or anImmunoglobulingene results in overexpression of the oncogene protein product. This is most commonly a result of a chromosome translocation.Oncogene amplification – a selective, unscheduled increase in gene copy number enabling a cell to meet the increased transcriptional demands of neoplastic transformation. This is seen as double minutes or as a chromosome duplication.Tumour suppressor gene inactivation – removal of the growth control functions of a TSG either by mutation or loss, after which the cell may fail to keep a cancer from developing, transforming the cell to a cancer phenotype.Loss of heterozygosity – the key mechanism of inactivation of a TSG. At a locus heterozygous for a deleterious mutant allele and a normal allele, a deletion or other mutation in the normal allele renders the cell hemizygous or homozygous for the deleterious allele.
Dominant Traits and Diseases
Authors: Jorde Lynn B 
Published: December 2008

Abstract
The principles of genetic dominance and recessiveness established by Gregor Mendel in his experiments with garden peas equally apply to human genetic diseases. For dominant diseases, the inheritance of one copy of the disease allele is sufficient to produce disease. Other factors, such as incomplete penetrance, variable expression, and delayed age of onset, further influence the expression of such diseases.
Phenotypic and Developmental Plasticity in Plants
Authors: Kramer Elena M 
Published: December 2008

Abstract

Plants exhibit an astonishingly diverse capacity to respond to environmental signals in many aspects of their development. This phenotypic plasticity is an essential component of their ability to adapt to a wide range of environmental conditions and accommodate their sessile lifestyle. Developmental responses include variation in continuous characteristics, such as stomatal density or root mass, as well as discrete developmental programmes that are produced in reaction to specific stimuli. Of particular interest are the germination, photoresponsive and flowering time pathways, which integrate a wide range of information in order to tailor a plant's development to the current environment. These kinds of pathways have three fundamental components: sensory systems that receive environmental input, interface systems that translate the inputs into specific developmental responses and, lastly, the developmental pathways themselves. The genetic basis for these components is just beginning to be understood.

Key concepts

Phenotypic plasticity – The capacity of a given genotype to produce different phenotypes in different environmental conditions.

Developmental plasticity – Variation in developmental processes that is induced by different environmental conditions.

Maternal environmental effect – The ability of the mother to imprint information on her offspring, often regarding the expected environment for that offspring.
Baculovirus Insect Cell Expression System
Authors: van Oers Monique M , Vlak Just M 
Published: December 2008

Abstract
The baculovirus insect cell expression system is based on the use of recombinant baculoviruses (insect viruses) and their ability to produce high levels of biologically active proteins in cultured insect cells or insect larvae. These viruses have very late genes (polyhedrin, P10), which are highly expressed due to very strong promoters, but are dispensable for infectious virus formation. Deletion of these genes and replacement with foreign genes convert these viruses into expression vectors for the production of recombinant proteins. Convenient systems (bacmids) are available for engineering these baculovirus recombinants in bacteria prior to transfection into insect cells. The proteins produced can be easily purified from infected cells or their supernatants using tags and affinity chromatography. The proteins can be used for human and veterinary applications, such as vaccines and diagnostics.
Intellectual Disability: Genetics
Authors: Knight Samantha JL 
Published: December 2008

AbstractThe extent to which genetics plays a role in intelligence has long been a matter for debate. However, it is now well established that genetic effects can contribute to intellectual disability (ID), in particular, moderate to severe ID. The discovery of chromosomal rearrangements and the cloning of causal genes have both clinical and scientific value. Clinically, they help the families of those affected by providing molecular diagnoses, alleviating feelings of guilt and allowing more accurate genetic counselling. Scientifically, they provide important clues regarding the underlying biology of cognition.Key conceptsBoth intellectual ability and disability are strongly influenced by genetics.ID is usually divided into syndromic and nonsyndromic categories.Most recognized forms of ID are X‐chromosome linked.Single gene mutations can cause syndromic and nonsyndromic ID.Causative gene products can be biochemically linked, signposting functionally important processes.Genome imbalance (aneusomy and segmental aneusomy) is a significant cause of syndromic ID.Array comparative genomic hybridization is a powerful new technique for identifying submicroscopic genome imbalances.Genome architecture can predispose to recurrent genomic disorders.Clinically, the provision of a molecular diagnosis is important to families with affected members.
Predictive Genetic Testing: Emotional and Behavioural Impact
Authors: Sanderson Saskia C 
Published: December 2008

Abstract
Genetic tests are becoming increasingly available both clinically and commercially. It is important that the psychological impact (e.g. emotional and behavioural impact) of this emerging class of tests is understood. The evidence suggests genetic testing may have fewer adverse emotional effects than anticipated. A clear picture has not yet emerged regarding behavioural impact. However, this field is in its infancy, and there is much work still to be done. The hope is that genetic testing will be applied and communicated in effective and responsible ways that have minimal adverse emotional yet maximal positive behavioural effects, and will ultimately have a significant beneficial impact on human health.
Genetic Education of Primary Care Health Professionals in Britain
Authors: Kirk Maggie , Tonkin Emma 
Published: December 2008

Abstract
The drive to ensure that primary care health professionals in Britain receive appropriate genetics education has made substantial progress in recent years. The strategic initiatives that have emerged from a strong policy foundation are leading developments in education and raising awareness about the role of genetics in primary care. Although significant challenges remain, there is evidence of an evolution from justification of the place of genetics in mainstream healthcare and education, to an articulation of what genetics should be taught, and, more latterly, to a consideration of strategies in ensuring that genetics can be fully integrated into practice.
Restoration of Terrestrial Communities
Authors: Wilson Scott D 
Published: December 2008

Abstract
Restoration returns ecosystems that have been altered by humans to states similar to unaltered systems, especially with regard to dominant vegetation, energy flows, water capture and nutrient cycling. General themes in terrestrial restoration include the degree of alteration, the similarity of the restoration to unaltered systems, and methods for ameliorating soil and returning vegetation. Socioeconomic factors may have overriding influences on restoration strategies. Restoration is a field ripe for research, both in the synthesis of applied knowledge and as a system for experimentally addressing a broad variety of ecological topics.
Sulfur Oxidation in Prokaryotes
Authors: Dahl Christiane , Friedrich Cornelius , Kletzin Arnulf 
Published: December 2008

Abstract

In nature, sulfur occurs in many different oxidation states and is one of the most versatile elements in life. Reduced inorganic sulfur compounds serve either as sources for sulfur assimilation and incorporation into organic compounds or as the basis for oxidative energy‐related processes. Sulfur‐based energy transformation with concomitant mass transformations occurs almost exclusively among prokaryotes (
Archaea
and
Bacteria
). Dissimilatory sulfur oxidation in
Eukarya
is mediated by lithotrophic bacterial endosymbionts. Oxidation of reduced inorganic sulfur species by bacteria is a vital part of the global sulfur cycle and has applied importance in agriculture, waste treatment, biocorrosion and biomining. This article focuses on oxidation of reduced inorganic sulfur compounds and discusses the sulfur‐oxidizing reactions of selected phototrophic and chemotrophic prokaryotes.
Cancer Stem Cells – Basic Concepts
Authors: Hatina Jiří , Schulz Wolfgang A 
Published: December 2008

Abstract
There is growing evidence that tumours display a hierarchy similar to normal tissues. A small population of cancer stem cells is supposed to perpetuate tumour growth. These cells self‐renew and are highly tumourigenic upon injection into immunocompromised animals, yielding tumours largely identical to those from which they were derived. Cancer stem cells exhibit a high degree of chemoresistance due to slow cycling and constitutive expression of multiple members of the adenosine triphosphate (ATP)‐binding cassette (ABC) family of transporters. An increasing number of tumours with tumour stem cells have been identified by now, including breast, brain, colon and prostate cancers, as well as leukaemias. Detailed characterization of cancer stem cells may contribute to a better understanding of the underlying biology of the respective tumours and lead to novel curative therapies.
The Role of Biodiversity
Authors: Wilby Andrew , Hector Andy 
Published: December 2008

Abstract
Human activities have caused widespread loss of biodiversity raising concern about the potential impact on ecosystem processes (flows of energy and materials). A large body of recent research has shown that as species are lost from ecosystems there is, generally, a minor impact on ecosystem processes, but that this impact increases disproportionately as species diversity declines. Functional complementarity among species, due to variation in the ecological niches they occupy, appears to be the main mechanism driving this pattern. Species diversity is also usually positively related to ecosystem stability, i.e. their variation through time and the resistance and resilience to perturbation. These findings are already powerful arguments for the conservation of biodiversity, though current research aims to increase their relevance to the real world by including a more extensive range of ecosystems and processes, realistic food web structures, realistic (nonrandom) extinction scenarios and larger spatial scales.
Infrared Spectroscopy of Biological Fluids in Clinical and Diagnostic Analysis
Authors: Shaw R. Anthony , Mantsch Henry H. 
Published: December 2008

Abstract
The infrared (IR) spectrum of a mixture serves as the basis to quantitate its constituents, and a number of common clinical chemistry tests have proven to be feasible using this approach. This article reviews the IR spectroscopy‐based analytical methods that have been developed for consideration as clinical assays, including serum analysis, urine analysis, amniotic fluid assays for the estimation of fetal lung maturity, and others. Because of the widespread interest in the potential for in vivo measurement of blood glucose using near‐IR spectroscopy, a separate section is devoted to the analysis of glucose in whole blood.
A related technique uses the IR spectrum of biomedical specimens directly as a diagnostic tool. For example, the spectra of serum and of synovial fluid have proven to be useful in the diagnosis of metabolic disorders and arthritis respectively, without explicitly recovering their chemical composition from the spectra. Rather, characteristic spectral features and patterns have been identified as the basis to distinguish spectra corresponding to healthy patients from those corresponding to diseased patients. These and other related applications to both human and veterinary health are reviewed here. Since diagnostic spectroscopy of cells and tissues are the subject of separate reviews within this volume, the scope of the present article is restricted to analytical and diagnostic spectroscopy of biological fluids.
Issues such as ease of use, speed, reliability, sample size, and calibration stability all play important roles in governing the practical acceptability of IR spectroscopy‐based analytical methods. To provide a framework to illustrate these issues, descriptions are included for the various procedures that have been explored to successfully wed IR spectroscopy to clinical chemistry. Finally, a recent development promises to broaden the applicability of IR spectroscopy in both clinical analytical and diagnostic applications; the combination of microfluidics (laminar fluid diffusion interface) with spectroscopy of biofluids is outlined with examples illustrating the potential for this integrated technique.
Raman Spectroscopy in Analysis of Biomolecules
Authors: Niaura Gediminas 
Published: December 2008

AbstractRaman spectroscopy (RS) is a vibrational spectroscopy technique based on the phenomenon of inelastic light scattering from matter (the Raman effect). It is a versatile tool for probing of biological events at the molecular level and for identification of biomolecules. The characteristic mark of modern RS is the variety of techniques used to explore the Raman effect. In this article the advantages and limitations of different methodologies including conventional Raman, resonance Raman (RR), ultraviolet resonance Raman (UVRR), surface‐enhanced Raman (SER), surface‐enhanced resonance Raman (SERR), Fourier transform Raman (FT‐Raman), micro‐Raman, time‐resolved Raman, and coherent anti‐Stokes Raman scattering (CARS) spectroscopies that can be used for analysis of structure and function of biomolecules are discussed. RR and UVRR spectroscopies are particularly important in biological applications since chromophoric groups (active centers in proteins, aromatic amino acid residues, and nucleotides), which in many cases are responsible for the function of biomolecules, can be probed selectively, by tuning the excitation wavelength to the electronic absorption transition of the chromophore. Surface‐enhanced techniques (SER and SERR) are the most sensitive, allowing RS of single biomolecules. The interpretation of the Raman spectra of biomolecules requires identification of spectra‐structure correlations. Numerous marker bands for conformation, hydrogen bonding, protonation, and hydrophobic interaction of the main constituents of biopolymers are provided and discussed.
Selective Zinc(II)‐Ion Fluorescence Sensing by a Functionalized Mesoporous Material Covalently Grafted with a Fluorescent Chromophore and Consequent Biological Applications
Authors: Sarkar Krishanu , Dhara Koushik , Nandi Mahasweta , Roy Partha , Bhaumik Asim , Banerjee Pradyot 
Published: December 2008

AbstractA highly ordered 2D‐hexagonal mesoporous silica material is functionalized with 3‐aminopropyltriethoxysilane. This organically modified mesoporous material is grafted with a dialdehyde fluorescent chromophore, 4‐methyl‐2,6‐diformyl phenol. Powder X‐ray diffraction, transmission electron microscopy, N2 sorption, Fourier transform infrared spectroscopy, and UV‐visible absorption and emission have been employed to characterize the material. This material shows excellent selective Zn2+ sensing, which is due to the fluorophore moiety present at its surface. Fluorescence measurements reveal that the emission intensity of the Zn2+‐bound mesoporous material increases significantly upon addition of various concentrations of Zn2+, while the introduction of other biologically relevant (Ca2+, Mg2+, Na+, and K+) and environmentally hazardous transition‐metal ions results in either unchanged or weakened intensity. The enhancement of fluorescence is attributed to the strong covalent binding of Zn2+, evident from the large binding constant value (0.87 × 104 M−1). Thus, this functionalized mesoporous material grafted with the fluorescent chromophore could monitor or recognize Zn2+ from a mixture of ions that contains Zn2+ even in trace amounts and can be considered as a selective fluorescent probe. We have examined the application of this mesoporous zinc(II) sensor to cultured living cells (A375 human melanoma and human cervical cancer cell, HeLa) by fluorescence microscopy.
Effective thermal conductivity of porous building materials – analysis and verification
Authors: Wyrwał Jerzy , Marynowicz Andrzej , Świrska Jadwiga 
Published: December 2008

AbstractEffective thermal conductivity of porous building materials is a very important parameter particularly in the thermal performance analysis of building envelopes. In this part of the paper the selected models of effective thermal conductivity of 2‐phase porous building materials fully filled with air or water are analyzed and verified. The calculated values from models are compared with measured data from literature and recommendations for selecting models are provided.
Nutzerzufriedenheit und Komfort am Arbeitsplatz – Ergebnisse einer Feldstudie in Bürogebäuden
Authors: Gossauer Elke , Wagner Andreas 
Published: December 2008

AbstractMit Hilfe multivariater Statistikverfahren konnten aus Daten einer Feldstudie in 17 Bürogebäuden zahlreiche Zusammenhänge zwischen verschiedenen Parametern mit Bezug zur Nutzerzufriedenheit am Arbeitsplatz gefunden und validiert werden. Ein wichtiges Ergebnis war, dass sich die verschiedenen Zufriedenheitsparameter nicht gegenseitig beeinflussen. Für die Zufriedenheit mit der Raumtemperatur konnte ein signifikanter Unterschied zwischen den Sommer‐ und Winterbewertungen gezeigt werden; die Unzufriedenheit bei neutralem Temperaturempfinden war im Sommer deutlich höher. Insgesamt waren nur 30% der befragten Nutzer zufrieden oder sehr zufrieden mit der Raumtemperatur an ihrem Arbeitsplatz. Der bedeutendste Faktor für die Zufriedenheit mit dem Raumklima war die wahrgenommene Einflussmöglichkeit auf die Raumtemperatur. Mit einer sogenannten Handlungsrelevanzmatrix, in der einzelne Zufriedenheitsparameter über ihrer Wichtigkeit für die allgemeine Zufriedenheit aufgetragen werden, lassen sich Schwachstellen eines Gebäude aus Nutzersicht transparent machen und bieten dem Gebäudemanager Unterstützung bei der Betriebsoptimierung. Für die Gebäudeplanung lässt sich ableiten, dass kleine Büroeinheiten mit individueller Eingriffsmöglichkeit in die Raumklimaregelung die größte Akzeptanz bei Nutzern erfahren.
A Bagging‐Based Correction for the Mixture Model Estimator of Population Size
Authors: Kuhnert Ronny , Del Rio Vilas Victor J. , Gallagher James , Böhning Dankmar 
Published: December 2008

AbstractEstimation of a population size by means of capture‐recapture techniques is an important problem occurring in many areas of life and social sciences. We consider the frequencies of frequencies situation, where a count variable is used to summarize how often a unit has been identified in the target population of interest. The distribution of this count variable is zero‐truncated since zero identifications do not occur in the sample. As an application we consider the surveillance of scrapie in Great Britain. In this case study holdings with scrapie that are not identified (zero counts) do not enter the surveillance database. The count variable of interest is the number of scrapie cases per holding. For count distributions a common model is the Poisson distribution and, to adjust for potential heterogeneity, a discrete mixture of Poisson distributions is used. Mixtures of Poissons usually provide an excellent fit as will be demonstrated in the application of interest. However, as it has been recently demonstrated, mixtures also suffer under the so‐called boundary problem, resulting in overestimation of population size. It is suggested here to select the mixture model on the basis of the Bayesian Information Criterion. This strategy is further refined by employing a bagging procedure leading to a series of estimates of population size. Using the median of this series, highly influential size estimates are avoided. In limited simulation studies it is shown that the procedure leads to estimates with remarkable small bias. (© 2008 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Enzymology of the fermentation of acetate to methane by Methanosarcina thermophila
Authors: Ferry James G. 
Published: December 2008

AbstractBiologically‐produced CH4 derives from either the reduction of CO2 or the methyl group of acetate by two separate pathways present in anaerobic microbes from the Archaea domain. Elucidation of the pathway for CO2 reduction to CH4, the first to be investigated, has yielded several novel enzymes and cofactors. Most of the CH4 produced in nature derives from the methyl group of acetate. Methanosarcina thermophila is a moderate thermophile which ferments acetate by reducing the methyl group to CH4 with electrons derived from oxidation of the carbonyl group to CO2. The pathway in M. thermophila is now understood on a biochemical and genetic level comparable to understanding of the CO2‐reducing pathway. Enzymes have been purified and characterized. The genes encoding these enzymes have been cloned, sequenced, transcriptionally mapped, and their regulation defined on a molecular level. This review emphasizes recent developments concerning the enzymes which are unique to the acetate fermentation pathway in M. thermophila.