bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene Therapy for Primary Immunodeficiency
Authors: Booth Claire , Gaspar H Bobby , Thrasher Adrian J 
Published: June 2013

Abstract

Primary immunodeficiencies represent a spectrum of disorders characterised by impaired development and function of the immune system with the more severe forms being lethal in infancy. Haematopoietic stem cell transplant is a curative treatment for many of these conditions but is limited by the availability of suitable donors and toxicities associated with cytoreductive chemotherapy and human leucocyte antigen disparity. Gene therapy strategies offer an alternative management option and have been developed for a number of disorders, with clinical trials underway for adenosine deaminase‐deficient‐severe combined immune deficiency (SCID), X‐linked SCID, X‐linked chronic granulomatous disease and Wiskott–Aldrich Syndrome. Initial trials using gammaretroviral vector‐mediated gene transfer showed impressive efficacy but were complicated by vector insertion driven leukaemia in some patients. Newer designs using modified vectors are likely to have an improved safety profile and the results of ongoing clinical trials may pave the way for gene therapy as a feasible management option for some children with PIDs.

Key Concepts:

In gene therapy, a patient's own haematopoietic stem cells are harvested, transduced with a viral vector containing a corrected copy of the defective gene and then returned to the patient.

A gene therapy procedure can be curative for patients with specific forms of severe combined immune deficiency (SCID), namely adenosine deaminase‐deficient SCID (ADA‐SCID) or X‐linked SCID.

Gene therapy also potentially offers definitive treatment for some non‐SCID PIDs including CGD and WAS although clinical trials are at early stages and those performed using gammaretroviral vectors offered only transient clinical benefit, if any.

Owing to the nature of the gammaretroviral vectors used in early trials several patients treated developed leukaemias or myelodysplasia.

Lentiviral vectors with an improved biosafety profile have since been developed, which reduce the risk of this happening again.

Targeted gene correction where the gene of interest is corrected
in situ
using meganuclease technology is currently being investigated as a future strategy, which may improve both the safety and efficacy of gene therapy procedures.
Animal Social Networks
Authors: Downing Beatrice C , Royle Nick J 
Published: June 2013

Abstract

Social network analysis (SNA) is a powerful tool that allows researchers to understand and quantify the structure and dynamics of animal societies. It is particularly useful for studying the transmission of disease, information and culture in groups and within populations and the evolution of cooperation, but is likely to be applicable for almost any subject that involves animals interacting with one another. Social networks can be potentially constructed using any association or interaction as long as a significant proportion of the focal group/population is individually identifiable. Once networks are constructed summary metrics can be extracted and used to answer the questions of interest. Care must be taken to make sure that the metrics used are appropriate for the hypotheses under test. The continuous advances in technology mean that SNA is becoming more and more widespread and increasingly relevant to understanding animal societies.

Key Concepts:

All animal societies can potentially be studied using social network analysis.

Social networks incorporate all the relationships among individuals within a group at the same time, rather than focussing on relationships between pairs of individuals, so are more realistic than traditional approaches.

Social network analysis has provided important insights into a wide‐range of areas, from the structure of complex societies to the transmission of information and disease within groups and the evolution of cooperation.

It is possible to incorporate spatial and temporal information when analysing networks of social relationships.

Social network analysis can also be useful in conservation, for example, management of endangered species, as well as theoretical studies.

There are many ways of building networks and numerous network metrics available for describing nodes and networks, making social network analysis valuable for many research questions.

Advances in technology are making it easier to apply social network analysis to animal societies.
Immune Evasion by Viruses
Authors: Simmons Ruth A , Willberg Christian B , Paul Klenerman 
Published: June 2013

Abstract

When a virus infects a host, a complex immune response develops to eliminate the invading pathogen. Viruses, in turn, have evolved a profusion of strategies to escape from the immune system. Mechanisms of viral evasion can be separated into those that occur at the cellular level and those that are important at the systemic level. Viruses can avoid detection by both innate and adaptive immune responses. Pattern recognition receptors in infected cells, interferons, dendritic cells, T cell receptors and antibodies are all targets of viral evasion proteins. Viruses can express proteins that directly interfere with host processes or mimic host proteins and compete to bind specific receptors. Pathogens are also able to directly deplete immune cells, and prevent their recruitment to the site of infection. In a state of latency, viruses remain dormant and undetectable in host cells. The diversity of these mechanisms has allowed us to dissect the immune system further and understand how viruses persist despite such a strong counterattack by the immune system.

Key Concepts:

Viruses have evolved a plethora of mechanisms to inhibit every step of the innate and adaptive immune responses.

Viruses avoid detection by pattern recognition receptors, T cell receptors and antibodies by modifying the ligands for these receptors.

Different viruses target every stage of antigen processing and presentation by MHC molecules, thus inhibiting recognition by T cells.

Interferons, cytokines and chemokines are mimicked or blocked by viral proteins to prevent the efficient development of an immune response.

Through repression of their replication, viruses are able to enter latency and remain dormant inside the cell, remaining undetectable.
Genetic, Epigenetic and Environmental Influences on Human Tooth Size, Shape and Number
Authors: Townsend Grant C , Brook Alan H 
Published: June 2013

AbstractStudies of twins are helping to unravel the roles of genetic, epigenetic and environmental influences on human tooth size, shape and number. There is a relatively strong genetic contribution to variation in these dental phenotypes but comparisons between monozygotic cotwins are also highlighting the roles of environmental and epigenetic factors. Furthermore, by viewing the dentition as a complex adaptive system, with multiple interacting components, a clearer picture is emerging of how common dental anomalies develop and are associated with one another. This article concentrates on providing a synthesis of relevant findings and concepts about variation in the human dentition at a phenotypic level. We focus on patterning within the dentition and dental asymmetry, as well as emphasising the importance of assessing the magnitude of errors when measuring or scoring dental features. We also provide links to several articles published in the Encyclopedia of Life Sciences that cover the molecular aspects of dental development.Key Concepts:There are distinct patterns of variation within the human dentition that conform to ‘morphogenetic fields’.Patterns of phenotypic variation correspond with the relative amount of time that each tooth germ spends in the soft tissue phase before mineralisation.A unifying aetiological model, incorporating thresholds, serves to explain the relationships between tooth size, shape and number in males and females.Tooth size variation shows a relatively strong genetic component but epigenetic and environmental factors can also contribute to phenotypic variation.Interrelationships exist between dental crown size and morphological dental features, such as the Carabelli trait.Discordance in the expression of missing or extra teeth between monozygotic cotwins indicates involvement of epigenetic influences on dental development.Studies of dizygotic opposite sex twins indicate that hormonal influencesin uterocan influence dental development.The magnitude of fluctuating dental asymmetry reflects the effects of epigenetic and environmental influences during development.Dental development is a multilevel process involving interacting genetic, epigenetic and environmental factors over an extended period.The dentition fulfils the characteristics of a complex adaptive system.
European Molecular Biology Organisation/Laboratory (
EMBO
/
EMBL
)
Authors: Krige John 
Published: June 2013

Abstract

Two European organisations exist for promoting molecular biology. EMBO is a ‘federation’ of universities and national research centres. EMBL today comprises five well‐equipped ‘central’ laboratories. These complementary organisations were institutional responses to different conceptions of how best to maintain the strength of molecular biology in Europe and halt the ‘brain drain’ of talented researchers to the United States. The federal model prevailed in the early 1960s as many molecular biologists feared that a central laboratory would be established at the expense of national facilities that were being built all over Europe. The central laboratory gained traction in the 1970s thanks in part to the expansion of the European Economic Community to include the United Kingdom.

Key Concepts:

Europe has two institutions devoted to promoting molecular biology at the regional level.

This is a residue of history: there were strong disagreements inside the community over the best institutional form needed to advance the field in the early 1960s.

A federal model competed with a centralised laboratory ‘modeled on CERN’ and it was agreed to stagger the two in time.

The determination to strengthen national capabilities is always in dynamic tension with the push to establish a major European research facility.

The demand for costly equipment is a necessary but not sufficient condition for establishing regional research facilities.
de Bary, Heinrich Anton
Authors: Drews G 
Published: June 2013

Abstract

Heinrich Anton de Bary (1831–1888), Professor of Botany at the German universities in Freiburg i.Br., Halle a.S. and Strassbourg (now in France), discovered sexual and asexual propagation of fungi by microscopically observing the different stages of development. His experimental approach and concept, based on Darwin's theory of evolution, were the starting points for a phylogenetic taxonomy, which, however, could not realise before present time. He defined several species and subspecies and their delimitation experimentally. de Bary also exactly described the entire process of infection of plants by fungi. The terms parasitism, symbiosis, heterospory and heteroecy were coined or redefined based on his experimental studies. His numerous studies on algae, lichens, ferns and higher plants enriched the knowledge of the time. As a teacher, de Bary was very modern – not authoritarian and promoted self‐reliance, observation skills, self‐control and a critical evaluation of one's own results and conclusions. He was internationally acknowledged, and many scientists worldwide came to visit his modern‐equipped laboratory.

Key Concepts:

The great achievements of biological research in the nineteenth century were the setting up of cell biology, disproof of spontaneous generation and Charles Darwin's proposal of the formation of species by natural selection.

Anton de Bary founded the developmental biology of fungi, that is, he identified the sequence of sexual and asexual stages and their fructification organs.

Different rust fungi are heteroecic, that is, the different developmental stages are dependent on different host plants.

de Bary proposed that the classification of fungi should be based on their evolution instead of on pure morphological criteria.

de Bary is the one who first defined the term symbiosis as a closed spatial coexistence of different species.

de Bary mastered his life as Professor of Botany, Director of Botanical Gardens, successful researcher and teacher of students through a high degree of self‐discipline and a sense of duty.
Bizzozero, Giulio
Authors: Dröscher Ariane 
Published: June 2013

Abstract

Giulio Bizzozero (1846–1901) was an Italian pathologist, histologist and haematologist. He was the central figure of the modernisation of medical research and practice after the unification of Italy. A gifted researcher and teacher, a talented science manager and committed populariser and an institutional reformer, he profoundly influenced at least two generations of Italian physicians. He gained international recognition for his pioneering studies on the role of lymphocytes in tissue regeneration, on the haematopoietic function of the bone marrow, on platelets and their role in the processes of coagulation and thrombosis and for his classification of tissues according to their regenerative powers, whereas his important contributions revealing phagocytosis and his discovery of desosomes and of

Helicobacter pylori

were recognised only after his premature death.

Key Concepts:

Giulio Bizzozero was the central figure of the modernisation of medicine in Italy in the second half of the nineteenth century.

Giulio Bizzozero established microscopy, histology and experimentalism in Italian medicine.

Among the instruments he invented were a technique for observing circulating blood
in vivo
, a chromocytometer, a method to count the platelets in flowing blood and a method to quantify the amount of mitotic cells in tissues.

Giulio Bizzozero pioneered the study of the connective tissue, of epithelioma formation and described in detail the role of mobile cells in the process of wound healing and regeneration.

His haematological studies (haematopoiesis, the discovery of the platelets and their role in thrombosis) and his classification of tissues based on the amount of labile, static and perennial cells they contain earned him international recognition.

The importance of his pioneering reports on phagocytosis and his description of
Helicobacter
and of desosomes were recognised only years after his death.
Polymers Containing Highly Polarizable Conjugated Side Chains as High‐Performance All‐Organic Nanodielectric Materials
Authors: Qiao Yali , Islam Mohammed Sayful , Han Kuo , Leonhardt Eric , Zhang Jiuyang , Wang Qing , Ploehn Harry J. , Tang Chuanbing 
Published: June 2013

AbstractThe discovery of nanodipolar π‐conjugated oligomer‐containing polymers as high performance nanodielectric materials with high permittivity and low dielectric loss over a wide range of frequency (100 Hz–4 MHz) is reported. Terthiophene‐containing methacrylate polymers are synthesized by reversible addition fragmentation transfer (RAFT) polymerization. Both X‐ray and thermal studies indicate the formation of small crystalline domains of terthiophene side chains dispersed in amorphous matrix. The highly polarizable and fast‐responsive nanodipoles from the nanoscale crystalline domains (<2 nm) are believed to dictate the performance. These polymers uniquely satisfy nanodipole architectures conjectured two decades ago to guide the design of high performance nanodielectric materials. This unprecedented approach can be generalized to a variety of π‐conjugated oligomer‐containing polymers for the development of high energy density capacitor materials.
Smart Drug Delivery Nanocarriers with Self‐Assembled DNA Nanostructures
Authors: Li Jiang , Fan Chunhai , Pei Hao , Shi Jiye , Huang Qing 
Published: June 2013

AbstractSelf‐assembled DNA nanostructures have emerged as a type of nano‐biomaterials with precise structures, versatile functions and numerous applications. One particularly promising application of these DNA nanostructures is to develop universal nanocarriers for smart and targeted drug delivery. DNA is the genetic material in nature, and inherently biocompatible. Nevertheless, cell membranes are barely permeable to naked DNA molecules, either single‐ or double‐ stranded; transport across the cell membrane is only possible with the assistance of transfection agents. Interestingly, recent studies revealed that many DNA nanostructures could readily go into cells with high cell uptake efficiency. In this Progress Report, we will review recent advances on using various DNA nanostructures, e.g., DNA nanotubes, DNA tetrahedra, and DNA origami nanorobot, as drug delivery nanocarriers, and demonstrate several examples aiming at therapeutic applications with CpG‐based immunostimulatory and siRNA‐based gene silencing oligonucleotides.
Photokatalytische Reduktion von CO2 an TiO2 und anderen Halbleitern
Authors: Habisreutinger Severin N. , Schmidt‐Mende Lukas , Stolarczyk Jacek K. 
Published: June 2013

AbstractDer kontinuierliche Anstieg der Kohlendioxidkonzentration in der Atmosphäre sowie die zunehmende Ressourcenverknappung fossiler Brennstoffe vergrößern die Sorge um das Klima und die Energieversorgung der Zukunft. Eine Antwort auf beide Probleme liefert die mit Sonnenenergie betriebene photochemische Gewinnung von Brennstoffen wie Methan und Methanol aus CO2. Mit dieser Methode lässt sich Sonnenenergie zudem in chemischer Form speichern und transportieren. In diesem Aufsatz werden aktuelle Konzepte der photokatalytischen CO2‐Reduktion an TiO2 und anderen Metalloxiden, Oxynitriden, Sulfiden und Phosphiden präsentiert. Der Fokus der besprochenen Forschungsarbeiten liegt dabei meist auf der Entwicklung neuer nanostrukturierter photokatalytischer Materialien und mechanistischen Untersuchungen des Prozesses, von der Lichtabsorption über Ladungstrennung und ‐transport bis zu den Reaktionswegen der CO2‐Reduktion. Zudem werden die Effizienzmessgrößen, mit denen gegenwärtig die Effizienz des Prozesses quantifiziert wird, ausführlich diskutiert.
Preparation, photoisomerization, and microfabrication with two‐photon polymerization of crosslinked azo‐polymers
Authors: Wang Hui , Jin Feng , Chen Shu , Dong Xian‐Zi , Zhang Yong‐Liang , Chen Wei‐Qiang , Zhao Zhen‐Sheng , Duan Xuan‐Ming 
Published: June 2013

ABSTRACTWe report the preparation, photoisomerization properties, and three‐dimensional (3D) microstructure fabrication with two‐photon polymerization of crosslinked azo‐polymers. A series of bi‐acrylate‐substituted azobenzene derivatives were designed and synthesized as the monomers and/or crosslinkers of the crosslinked azo‐polymers. The doping concentration of the derivatives in pre‐polymer resins was significantly increased due to the introduction of bulky tert‐butyl and flexible alkyl chains. The double‐exponential dynamics of trans‐to‐cis photoisomerization of the azo‐polymers indicated the coexistence of different processes for the azobenzene moieties in the polymeric crosslinked networks. The crosslinked azo‐polymers exhibited ideal “on–off” switching performance in the highly reversible trans–cis–trans isomerization cycles. Furthermore, we prepared a photoresist containing the azobenzene derivative for 3D microstructure fabrication based on two‐photon polymerization. A woodpile photonic crystal with a photonic bandgap at telecommunication wavelength region was successfully fabricated with the azobenzene‐containing photoresist, which would open the way for the design and manufacturing of miniature optical communication devices. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 130: 2947–2956, 2013
Red blood cell folate levels in pregnant women with a history of mood disorders: A case series
Authors: Yaremco Elyse , Inglis Angela , Innis Sheila M. , Hippman Catriona , Carrion Prescilla , Lamers Yvonne , Honer William G. , Austin Jehannine 
Published: June 2013

BACKGROUNDMaternal folate supplementation reduces offspring risk for neural tube defects (NTDs) and other congenital abnormalities. Maternal red blood cell (RBC) folate concentrations of >906 nmol/L have been associated with the lowest risk of having a neural tube defect affected pregnancy. Mood disorders (e.g., depression, bipolar disorder) are common among women and can be associated with folate deficiency. Thus, pregnant women with histories of mood disorders may be prone to RBC folate levels insufficient to provide optimal protection against neural tube defects. Although previous studies have assessed RBC folate concentrations in pregnant women from the general population, none have looked specifically at a group of pregnant women who have a history of a mood disorder.METHODSWe collected data about RBC folate concentrations and folic acid supplement intake during early pregnancy (<161 days gestation) from n = 24 women with histories of mood disorders. We also collected information about offspring congenital abnormalities and birth weight.RESULTSAmong women with histories of mood disorders, the mean RBC folate concentration was 674 nmol/L (range, 362–1105 nmol/L). Only 12.5% (n = 3) of the women had RBC folate concentrations >906 nmol/L, despite all participants reporting current daily use of folic acid supplements. Data regarding offspring were available for 22 women: birth weights ranged from 2296 g to 4819 g, and congenital abnormalities were identified in two (hypoplastic left heart, annular pancreas).CONCLUSIONData from this exploratory case series suggest a need for future larger scale controlled studies investigating RBC folate concentrations in early pregnancy and offspring outcomes among women with and without histories of mood disorders. Birth Defects Research (Part A) 97:416–420, 2013. © 2013 Wiley Periodicals, Inc.
Unidirectional Molecular Stacking of Tribenzotriquinacenes in the Solid State: A Combined X‐ray and Theoretical Study
Authors: Brandenburg Jan Gerit , Grimme Stefan , Jones Peter G. , Markopoulos Georgios , Hopf Henning , Cyranski Michał K. , Kuck Dietmar 
Published: June 2013

AbstractA combined X‐ray diffraction and theoretical study of the solid‐state molecular and crystal structures of tribenzotriquinacene (TBTQ, 2) and its centro‐methyl derivative (3) is presented. The molecular structure of the parent hydrocarbon displays C3v symmetry and the three indane wings adopt mutually orthogonal orientations, similar to the case in its previously reported methyl derivative (3). Also similarly to the latter structure, the bowl‐shaped molecules of compound 2 form infinite molecular stacks with perfectly axial, face‐to‐back (convex–concave) packing and with parallel and unidirectional orientation of the stacks. The experimentally determined intra‐stack molecular distance is 4.75 Å for compound 2 and 5.95 Å for compound 3. Whereas the molecules of compound 2 show a slight alternating rotation (±6°) about the common axis of each stack, those of compound 3 show perfect translational symmetry within the stacks. We used dispersion‐corrected density functional theory to compute the crystal structures of tribenzotriquinacenes 2 and 3. The London dispersion correction was crucial for obtaining an accurate description of the crystallization of both analyzed systems and the calculated results agreed excellently with the experimental measurements. We also obtained reasonable sublimation energies for both compounds. In addition, the geometries and dimerization energies of oligomeric stacks of compound 2 were computed and showed smooth convergence to the properties of the infinite polymeric stack.
ChemInform Abstract: Rare‐Earth Metal Gallium Silicides via the Gallium Self‐Flux Method. Synthesis, Crystal Structures, and Magnetic Properties of RE(Ga1‐xSix)2 (RE: Y, La—Nd, Sm, Gd—Yb, Lu).
Authors: Darone Gregory M. , Hmiel Benjamin , Zhang Jiliang , Saha Shanta , Kirshenbaum Kevin , Greene Richard , Paglione Johnpierre , Bobev Svilen 
Published: June 2013

AbstractThe title compounds are synthesized from the elements using molten Ga as a flux (alumina crucible, 1473 K, 24 h) and characterized by single crystal and powder XRD, and magnetic susceptibility measurements.