bluuebunny/crossref_metadata_2025 huggingface dataset:
Psychrophiles and Psychrotrophs
Authors: Moyer Craig L , Morita Richard Y
Published: October 2007

Psychrophiles are extremophilic bacteria or archaea which are cold‐loving, having an optimal temperature for growth at about 15°C or lower, a maximal temperature for growth at about 20°C and a minimal temperature for growth at 0°C or lower. Psychrotrophs are cold‐tolerant bacteria or archaea that have the ability to grow at low temperatures, but have optimal and maximal growth temperatures above 15 and 20°C, respectively. The Earth has extensive cold ecosystems that do not reach temperatures greater than 5°C (e.g. worldwide deep oceans, polar surface, polar ice‐cap regions, permafrost). Psychrophiles and psychrotrophs are cold‐loving extremophiles adroitly adapted to these environmental conditions, and are often capable of enduring extended periods of cryobiosis.
Microorganisms in High‐temperature Sulfur Environments
Authors: Bonch‐Osmolovskaya Elizaveta
Published: October 2007

Sulfur‐rich high‐temperature environments such as solfataric fields, hot springs and ‘black smokers’ provide habitats for microbial life at the upper temperature border. Such regions have yielded hyperthermophilic bacteria and archaea that grow optimally at temperatures above 80°C, some even above 100°C.
Viable but Nonculturable Bacteria
Authors: Steck Todd R
Published: October 2007

Viable but nonculturable bacteria are not detected using standard microbiological assays, hence environmental samples thought to lack bacteria may in fact contain large numbers of these dormant‐like cells. Though controversial, the viable but nonculturable state can explain certain environmental microbial phenomenon, such as the source of recurrent bacterial infections in plants and animals.
Papillomaviruses
Authors: Christensen Neil D
Published: October 2007

Papillomaviruses are small deoxyribonucleic acid (DNA) tumour viruses that cause hyperproliferative lesions known as warts. A subset of human papillomaviruses (HPVs) that infect genital tissues are associated with cancers of the uterine cervix (cervical cancer) and other anogenital sites. Recent successful clinical trials have been completed using a virus‐like particle (VLP) vaccine, leading to the world's first food and drug administration (FDA)‐approved cancer vaccine (Gardasil).
Fetal–Maternal Immunological Relationships
Authors: Chaouat Gérard
Published: October 2007

Despite inheriting half of its genetic material from its father, the fetus is not rejected by the maternal immune system because of a unique immunological relationship with the mother.
Lysosomal Degradation of Proteins
Authors: Dice J Fred
Published: October 2007

Lysosomal enzymes and lysosomal membrane proteins are targeted to lysosomes by distinct mechanisms. Mutations that cause a reduction in activity of a lysosomal enzyme cause a variety of lysosomal storage diseases. Lysosomes are able to take up and degrade proteins by at least five different pathways, and their contribution to overall proteolysis depends on the cell type and its physiological status. Recent studies have begun to define the molecular mechanisms of macroautophagy, microautophagy, and chaperone‐mediated autophagy.
Cobalamin Coenzymes and Vitamin
B
12
Authors: Buckel Wolfgang
Published: October 2007

Cobalamins are derivatives of vitamin B
12
that serve as cofactors in various enzymatic reactions involving either radicals or supernucleophilic intermediates.
Glycolipids: Animal
Authors: Sen‐itiroh Hakomori , Ineo Ishizuka
Published: October 2007

Glycolipids are carbohydrates linked to lipid (either ceramide or glyceride). They are found in animal cells and tissues.
Plant Resistance to Infection by Viruses
Authors: Nicaise Valérie , Revers Frédéric
Published: October 2007

Damages caused by viruses have a major economic and agronomic impact in agriculture. To counter these attacks, plants have developed efficient defence mechanisms that prevent or limit viral infection. Recently, important advances in our understanding of the molecular nature and mechanisms associated with recessive or dominant natural virus resistance genes have been made, as well as concerning the general antiviral defence system based on ribonucleic acid (RNA) silencing.
Virus and Host Plant Interactions
Authors: Maule Andrew J
Published: October 2007

Plant viruses use the host pathways for cellular and tissue communication in order to spread through the plant leading to the onset of symptoms and reduced productivity. A successful virus infection represents the exploitation of the host plant to massively amplify the viral genome in a form that can be transmitted to neighbouring uninfected plants or progeny plants.
Transcription Activation at Bacterial Promoters
Authors: Busby Stephen JW , Savery Nigel J
Published: October 2007

Bacterial genomes encode thousands of genes whose expression is regulated in response to changes in the environment. Much of this regulation takes place at the level of the initiation of transcription of specific genes. Bacteria use hundreds of different proteins to activate transcription by a variety of mechanisms.
Enzyme Activity: Control
Authors: Nadaraia Shorena , Yohrling George J , Jiang George C‐T , Flanagan John M , Vrana Kent E
Published: October 2007

Enzymes are the metabolic catalysts that affect a multitude of physiological processes and responses. Tight control of enzyme activity is therefore essential in maintaining the steady state of all organisms.
B
Lymphocytes: Receptors
Authors: Kurosaki Tomohiro , Hikida Masaki
Published: October 2007

The B‐cell receptor (BCR) is a complex of integral membrane proteins which is expressed on the cell surface of B lymphocytes. The BCR not only recognizes an antigen and transduces activating signals, but also plays a central role in determining the fate of B lymphocytes.
Tumour Necrosis Factors
Authors: Branschädel Marcus , Boschert Verena , Krippner‐Heidenreich Anja
Published: October 2007

The cytokine tumour necrosis factor is a major mediator of natural immunity and is a potent stimulus for many inflammatory and immune functions of the body.
Inflammatory Mediators
Authors: Lamoureux Jennifer L , Bradley David S
Published: October 2007

Inflammation is the body's reaction to injury or pathogenic invasion. The four cardinal signs of inflammation, redness, swelling, heat and pain are the result of the innate immune response producing soluble inflammatory mediators that recruit cells to the sites of infection via chemokine gradients and regulation of receptors and adhesion molecules.
Immunological Tolerance: Mechanisms
Authors: Zouali Moncef
Published: October 2007

Immunological tolerance refers to a reduction or complete inhibition of the ability of an individual to mount a specific immune response upon immunization.
Avian Influenza Viruses
Authors: Perdue Michael L
Published: October 2007

Avian influenza viruses comprise scores of antigenic subtypes within the genus
Influenza A
of the
Orthomyxoviridae
family. They are found most prominently in migratory waterfowl and shorebirds and are sporadically transmitted to other avian and mammalian species. The consequences of such transmissions can range from a subclinical infection to a highly infectious and lethal respiratory disease. Further, such transmissions may result in increased gene mutations or the transfer of avian virus genes into other circulating influenza gene pools or both.
Basophils
Authors: Galli Stephen J , Chatterjea Devavani
Published: October 2007

Basophilic granulocytes or ‘basophils’ are a type of leucocyte (‘white blood cell’) that circulates in the blood and can participate in the expression of allergic diseases, such as asthma and hay fever. These cells also can contribute to resistance to parasite infections. When they participate in allergic reactions or responses to parasites, basophils release histamine and many other biologically active molecules that can contribute to inflammation.
Immune System: Early Ontogeny
Authors: Marcos Miguel AR , Toribio María Luisa , Gaspar María Luisa
Published: October 2007

The innate and adaptive compartments of the immune system are constantly regenerated in response to high cell turnover of their mature components. Immune development occurs from early postgastrulation periods up to the adult life, and the genes, progenitors and differentiation pathways involved change during ontogeny.
Lymphocytes: Gamma Delta
Authors: Gertner Julie , Scotet Emmanuel , Poupot Mary , Bonneville Marc , Fournié Jean‐Jacques
Published: October 2007

γδ Lymphocytes are a subset of T lymphocytes that express the γδ receptor for antigens. They are distinct from αβ T lymphocytes not only by their different mode of antigen recognition but also for the functions they fulfil. These HLA‐unrestricted lymphocytes are particularly attractive for developing anticancer therapies based on new activatory drugs.
Lymphocytes: Recirculation
Authors: Jalkanen Sirpa , Salmi Marko
Published: October 2007

Successful immunosurveillance requires endless patrolling of lymphoid tissues by lymphocytes in search for foreign antigens. Bloodborne lymphocytes bind with vessel wall, transmigrate out from the circulatory tree, percolate through the tissues and return via the lymphatic vessels back into the blood in a tightly controlled process called lymphocyte recirculation. Leucocyte–endothelial cell interaction is mediated by adhesive and deadhesive interactions between multiple molecules on the two opposing cell types.
Antimicrobial, Host Defence Peptides and Proteins
Authors: Brown Kelly L , Mookherjee Neeloffer , Hancock Robert EW
Published: October 2007

Host defence (antimicrobial) peptides and proteins are important effectors of the innate and adaptive arms of the immune system. To eradicate infectious agents and support immunity they (1) interfere with microbial integrity or metabolism by targeting structures or nutrients specific to microbes and (2) interact with host innate immune cells to tailor a heightened but balanced immune response.
Skin: Immunological Defence Mechanisms
Authors: Nickoloff Brian J
Published: October 2007

Human skin is the largest organ of the body providing a protective coat to ensure that exogenous ‘noxious’ agents do not jeopardize the function of vital internal organ systems. Being situated at the interface between external and internal milieus, a number of remarkable structural and functional characteristics of skin have been delineated that contribute to its effectiveness at maintaining homeostasis.
Antibody Responses: Development
Authors: Wingren Christer
Published: October 2007

Antibodies are produced by B cells in response to foreign substances (antigens) such as bacteria and viruses. The development of the antibody response is dependent on the nature of the antigen, the subset of B cells activated and whether the immune system has previously encountered the antigen.
Transplantation of Haematopoietic Stem Cells
Authors: Gupta Vikas , Chen Christine , Keating Armand
Published: October 2007

Haematopoietic stem cell transplantation involves the infusion of blood progenitor cells (stem cells) into patients with damaged bone marrow in order to restore normal marrow function. Stem cells may be obtained from a healthy donor (allogeneic) or from the patients themselves (autologous).
Ozone and Reactive Oxygen Species
Authors: Allan Andrew C , Fluhr Robert
Published: October 2007

Increasing levels of the pollutant ozone are likely to have a dramatic effect on future plant productivity. Ozone's damaging effect on the plant is mediated primarily via an induction of cellular reactive oxygen species (ROS).
Cyclic Electron Transport
Authors: Johnson Giles N
Published: October 2007

Cyclic electron transport is a light‐driven flow of electrons through a photosynthetic reaction centre with the electrons returning to the reaction centre via an electron transport pathway. Cyclic electron transport will normally generate an electrochemical potential (typically pH) gradient across a membrane but does not result in the net production of reductant. The pH gradient generated may drive the production of adenosine triphosphate (ATP) (cyclic photophosphorylation) or may regulate photosynthesis.
Protein–
DNA
Complexes: Nonspecific
Authors: Saecker Ruth M
Published: October 2007

Nonspecific protein–DNA complexes form largely independently of deoxyribonucleic acid (DNA) sequence or structure. Typically, the thermodynamic driving force for forming these complexes is electrostatic due to the polyelectrolyte (polyanionic) nature of the DNA.
Tumours: Immunotherapy
Authors: Salem Mohamed L , Rubinstein Mark P , Cole David J
Published: October 2007

For many years, the treatment of cancer was primarily focused on surgery, chemotherapy and radiation, but as researchers learn more about how the body fights cancer on its own, antitumour immunotherapies are being developed. Although some therapeutic approaches in use today are nonspecific, most protocols are designed to be antigen specific; the latter can be accomplished by either adoptive transfer or vaccination. Recent preclinical and clinical studies reflect the effectiveness of immunotherapy in combination with chemotherapy as a potential approach to specifically target cancer leaving normal cells safe.
Plant Plasma Membrane
Authors: Larsson Christer , Sommarin Marianne , Pical Christophe , Kjellbom Per , Widell Susanne
Published: October 2007

The plasma membrane encloses the cell contents and acts as a barrier between the cell and its environment. The plasma membrane allows a controlled exchange of ions and solutes with the rest of the organism and its surroundings, and plays an active role in many processes, such as plant development, pathogen resistance and frost‐hardiness.
Microsporidioses
Authors: Hale‐Donze Hollie , Didier Elizabeth S
Published: October 2007

Microsporidia infect a wide range of invertebrates and vertebrates and were only rarely observed in humans until the mid‐1980s when these organisms became recognized as causes of opportunistic infections in persons with acquired immunodeficiency syndrome (AIDS) associated with persistent diarrhoea and wasting. Nowadays, microsporidioses are being identified more extensively among human populations that include children, travellers, the elderly and others who may be immunocompromised.
Plant Genome Projects
Authors: Schmidt Renate
Published: October 2007

A genome project aims to discover all genes and their function in a particular species. Plant genome projects have focused on a few model organisms that are characterized by small genomes or their amenability to genetic studies.
Gene Silencing in Plants
Authors: Meyer Peter
Published: October 2007

The term gene silencing refers to an epigenetic phenomenon, the heritable inactivation of gene expression that does not involve any changes to the deoxyribonucleic acid (DNA) sequence. While this phenomenon has initially been studied in transgenic plants, its relevance in the regulation of endogenous plant genes has become increasingly apparent.
Vernalization
Authors: Finnegan E Jean , Helliwell Chris , Sheldon Candice , Peacock W James , Dennis Elizabeth , Bagnall David , Rouse Dean , Tadege Million
Published: October 2007

Vernalization is the promotion of flowering in response to a prolonged period of growth at low temperatures, and is an important adaptation of plants growing at high latitudes or altitudes to ensure that flowering occurs in the warmer days of spring or summer, allowing sufficient time for seed development before the onset of winter. Vernalization is important in agriculture as various crop plants, including the winter cereals and canola, must experience a prolonged period at low temperatures to initiate flowering in the spring.
Chronic Lymphocytic Leukaemia
Authors: Dearden Claire
Published: October 2007

Chronic lymphocytic leukaemia (CLL) results from the expansion of a clone of CD5+ B lymphocytes with distinct morphology and membrane antigens. The clinical course is variable and is determined by the stage of the disease. Genetic abnormalities detected by fluorescence
in situ
hybridization (FISH) analysis are important determinants of prognosis. Treatment is only indicated in symptomatic patients with active disease.
Influenza Epidemics
Authors: Neumann Gabriele , Kawaoka Yoshihiro
Published: October 2007

Influenza viruses can cause either limited or worldwide epidemics (pandemics), during which acute febrile respiratory disease spreads rapidly among all age groups, accompanied by excess hospitalization and death. Influenza virus replication and adaptation to new hosts account for much of the evolutionary success of these viruses. Several influenza pandemics are described, and clinical features, control and immunity discussed.
Animal Cell Culture Scale‐up
Authors: McGlinchey Eunan
Published: October 2007

Cultures of animal cells can be grown
in vitro
within controlled laboratory environments and are used for research in cell biology or as a method for producing products of commercial interest. Various methods for scale‐up of these cultures are available.
Epitope Mapping:
B
‐cell Epitopes
Authors: Morris GE
Published: October 2007

Immunoglobulin molecules are folded to present a surface structure complementary to a surface feature on the antigen – the epitope is this feature of the antigen. Epitope mapping is the process of locating the antibody‐binding site on the antigen, although the term is also applied more broadly to receptor–ligand interactions unrelated to the immune system.
Atomic Force Microscopy
Authors: de Jager Martijn , van Noort John
Published: October 2007

Atomic force microscopy is a local probe technique that can be used to visualize the structure of cells and cell fragments, as well as single molecules such as proteins, DNA and their interactions in a physiological environment at nanometer resolution. In addition, physical properties such as elasticity and molecular interaction forces can be measured and mapped.
Green Fluorescent Protein (
GFP
)
Authors: Hebshi Leila D , Angres Brigitte M , Li Xianqiang L , Kain Steven R
Published: October 2007

Green fluorescent protein (GFP), a fluorescent molecule, found in the jellyfish
Aequorea victoria
, is a useful reporter molecule for
in vitro
and whole organism gene expression studies. Several modifications have produced an important class of reporter molecules with superior monitoring capabilities.
Pollination by Animals
Authors: Waser Nickolas M
Published: October 2007

Most flowering plants depend on flower‐visiting animals such as bees for their sexual reproduction. Animal pollination is critical for crop and natural ecosystems and plays central roles in plant ecology and evolution.
Lake Communities
Authors: Brönmark Christer , Hansson Lars‐Anders
Published: October 2007

Lakes are commonly classified according to productivity (oligotrophic versus eutrophic), thermal stratification patterns or where the major carbon input comes from. Within lakes we can recognize three different zones, the near‐shore littoral zone, the openwater pelagic zone and the lake bottom beneath, the profundal and each of these zones has its own community of organisms. Among lakes, lake community structure is determined by processes at different spatial and temporal scales including historical processes, speciation, environmental conditions and biotic interactions such as competition and predation.
Climate Change and Biogeochemical Impacts
Authors: Doney Scott C , Schimel David
Published: October 2007

Human activities are causing a significant build‐up of greenhouse gases (e.g. carbon dioxide, methane and nitrous oxide) and aerosols in the atmosphere, which is modulated in part by the land biosphere and ocean. Model projections for the coming century suggest that these changes in atmospheric composition will result in substantial global warming and strengthening of the hydrological cycle. Climate change and other human‐driven processes such as land‐use changes and ocean acidification will have profound impacts on global biogeochemistry and terrestrial and marine ecosystems.
Water Conservation and Efficiency
Authors: Cooley Heather , Gleick Peter H
Published: October 2007

Although traditional water planning has brought tremendous benefits, it has also wrought unanticipated social, economic and environmental costs. The failure of the traditional water‐supply planning process is slowly leading to new discussions and new ideas. Increasingly, water managers are realizing the importance of managing the other side of the supply equation – demand. Demand management, or conservation and efficiency, refers to the implementation of technologies, practices and policies that reduce water use ‘without compromising service’. Although progress has been made in recent years, studies indicate that the potential for reducing water waste remains large.
Plant Organ Size Control
Authors: Stransfeld Lena , Lenhard Michael
Published: October 2007

Plant organ size is remarkably constant within a given species, while related species can show dramatic differences in size, indicating that the extent of organ growth is under tight genetic control. Plant organs grow initially by proliferation (i.e. cell growth and cell division) and in a second phase by cell expansion without further divisions. Both processes are regulated by a number of genetic pathways in a positive or negative manner.
Hypothalamic Control of Food Intake and Body Weight
Authors: Henry Belinda A
Published: October 2007

Food intake is regulated by the brain, wherein the hypothalamus plays an essential role. The expression of various appetite‐regulating peptides and specific hypothalamic circuitry allows a complex interplay of multiple nuclei in control of energy balance. The major centres involved are the arcuate nucleus, paraventricular nucleus, lateral hypothalamic area, dorsomedial hypothalamus and the ventromedial hypothalamus. Interrelationships between these centres provide tight homeostatic regulation of body weight.
Protein‐Ligand Interactions: Computational Docking
Authors: Schwarz David , Kavraki Lydia E
Published: October 2007

Protein–ligand docking is the process of computationally predicting the placement and binding affinity of a small organic molecule in the binding pocket of a protein, usually for the purposes of drug discovery. A variety of techniques, ranging from simple point‐matching algorithms to explicit physical simulation methods have been developed to address this problem.
Atherosclerosis: Pathogenesis, Clinical Features and Treatment
Authors: Lorkowski Stefan , Cullen Paul
Published: October 2007

Atherosclerosis is a chronic inflammatory disease of the inner wall of large‐ and medium‐sized arteries. The condition often begins in infancy, but takes several decades to develop the full‐blown cholesterol‐rich fibrotic plaques characteristic of the mature disease and worldwide, more people die of the complications of atherosclerosis than of any other cause.
Diving Physiology of Marine Vertebrates
Authors: Costa Daniel P
Published: October 2007

Air‐breathing marine vertebrates that dive to find food deal with two fundamental problems, the effects of pressure at depth, and the need to actively forage while breathholding. Adaptations to diving can be divided into two categories, those that are associated with adaptations to pressure, and those associated with breath‐hold diving. Adaptations to pressure have to deal with the mechanical effects of pressure and the increased solubility of gas at depth. Adaptations to breath‐hold diving centre around modifications in metabolism, blood flow and an increased oxygen storage capacity.
Tissue‐specific Locus Control: Structure and Function
Authors: Bonifer Constanze
Published: October 2007

All developmental processes involve decisions in which the developmental fate of precursor cells is restricted to a single lineage by establishing a unique gene expression pattern. The activation at each of these gene loci involves restructuring chromatin as a necessary prerequisite for the assembly of the transcription apparatus. Tissue‐specific locus activation is controlled by the interplay between sequence‐specific transcription factors, chromatin‐modifying activities and basic chromatin components.
Bioinformatics in Genome Sequencing Projects
Authors: Jongeneel Victor
Published: October 2007

The genome projects have depended heavily on powerful computers and high‐speed networks. Much software was written specifically for them to cover technical requirements from data handling to the presentation of genome data to the scientific community. The projects also spurred the development of new types of computer hardware, which are designed specifically for the needs of genome scientists.
Genetic Epidemiology of Complex Traits
Authors: Rana Brinda K , Schork Nicholas J
Published: October 2007

Genetic epidemiology is a research discipline, which evaluates the contribution of genetic factors to disease incidence, prevalence, diagnosis, prevention and treatment, in the population. As most traits and diseases are influenced by a number of genetic and nongenetic factors, the identification and characterization of these factors using population‐based studies are difficult. The complex, multifactorial and context‐dependent pathophysiological basis of most traits and diseases is further compounded by a number of issues associated with the genetic structure of human populations. Genetic epidemiologists perform ‘assays’ investigating aspects of genetic population structure and thereby deal with these issues in coherent and compelling ways.
RNA Processing and Human Disorders
Authors: Lejeune Fabrice , Maquat Lynne E
Published: October 2007

Errors in messenger ribonucleic acid biogenesis at any one of a number of steps often result in human disease because of the failure to synthesize functional protein.
Leber Hereditary Optic Neuropathy (
LHON
)
Authors: Spruijt Liesbeth
Published: October 2007

Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial inherited disorder causing an acute and severe loss of visual acuity in previously healthy persons. In most cases, a primary mitochondrial deoxyribonucleic acid (mtDNA) mutation is present but the pathogenesis of LHON remains unclear and no treatment is available yet.
Fetal Diagnosis
Authors: Holzgreve Wolfgang , Mergenthaler‐Gatfield Susanne , Hahn Sinuhe
Published: October 2007

Prenatal diagnosis is concerned mainly with the detection of fetal chromosomal aberrations, single gene disorders and malformations of different aetiologies. Current methods for the retrieval of fetal material for the genetic analysis rely on invasive practices (amniocentesis, chorionic villus biopsy) that are associated with a risk of fetal loss. Recently, progress has been made in developing noninvasive alternatives by quantitatively and qualitatively analysing fetal cells or cell‐free fetal deoxyribonucleic acid (DNA) out of maternal blood or maternal plasma, respectively. Also the preimplantation genetic diagnosis benefits from these technical advancements.
Databases in Genetics Clinics
Authors: Pagon Roberta A
Published: October 2007

Medical geneticists, genetics counsellors and nurses in genetics who staff medical genetics clinics rely upon internet‐accessible and stand‐alone databases for access to the medical literature, for disease recognition, for current information on genetic test availability and use, for patient‐support materials and for locating other genetics professionals.
Genetic Screening Programs
Authors: McLean Sheila AM
Published: October 2007

Genetic screening programs have the capacity to provide valuable public health information. However, they are not uncontroversial, and it is proposed that they must meet certain important tests before they are routinely implemented.
Genetic Screening: Facilitating Informed Choices
Authors: Bekker Hilary L
Published: October 2007

Informed decision‐making is fundamental to prenatal and genetic testing programmes.
Genetic Enhancement: The Role of Parents
Authors: McGee Glenn
Published: October 2007

Genetic engineering's promises might look enticing, but the road to a perfect child is littered with pitfalls.
Reproductive Choice
Authors: Harris John
Published: October 2007

Assisted reproductive technologies, including preimplantation genetic diagnosis, may be used to influence nonmedical traits. When may this be appropriate? What potential problems are there with such applications of the technology?
Gamete Donation and ‘Race’
Authors: Fuscaldo Giuliana
Published: October 2007

Prospective recipients can now select gamete donors from a range of characteristics, including ‘race’ and ethnic features. The importance of these characteristics for choosing a sperm or egg donor varies, and commentators disagree on the role that race should play in reproductive choices.
DNA Technology: A Critical European Perspective
Authors: Emmott Steve
Published: October 2007

Advances in DNA research and knowledge raise profound questions about the application of this technology to humans and the decision‐making processes that are needed to govern its use.
DNA Technology: Asilomar Conference and ‘Moratorium’ on Use
Authors: Wright Susan
Published: October 2007

The 1975 Asilomar conference is seen a landmark in the history of genetic engineering, an event that served as an influential model for policy making at that time. Its role as a model for future policy making on DNA technologies has been broadly questioned, particularly since commercial and military interests have been seen as major influences on the field's development.
Romanov Family
Authors: Edson Suni M
Published: October 2007

The bodies of the last Russian royal family were recovered in 1991. Genetic markers have had an impact on their lives, deaths and identification.
Genetic Counseling
Authors: Walker Ann P
Published: October 2007

Genetic counseling involves genetic risk assessment and patient education about the features, treatment and inheritance of a possible hereditary disease or birth defect. Genetic counselors also help individuals and families with decision‐making about reproductive, testing or treatment options, and guide and support them as they deal with the impact of these conditions or with the genetic risk on their lives.
Genetic Counseling: Psychological Issues
Authors: Biesecker Barbara B
Published: October 2007

The psychological consequences of a genetic diagnosis, risk or test are shaped by client traits, background and prior experiences. Evaluation of the success of genetic counseling in addressing psychological needs of clients necessitates well‐designed process and outcome studies.
Predictive Genetic Testing
Authors: Tibben Aad
Published: October 2007

Predictive or presymptomatic genetic testing enables individuals at risk for a hereditary late‐onset disease to learn about their genetic status before symptoms have appeared. The predictive testing protocol for Huntington disease safeguards the interests of test candidates and has served as a model for other diseases.
Genetic Risk
Authors: Prior Lindsay
Published: October 2007

Risk assessment of adverse genetic outcomes involves complex decision‐making procedures. Human values and expert judgments of various kinds, as well as scientific and/or mathematical knowledge and technological hardware, are all implicated in the assessment process.
Clinical Genetic Services in the United Kingdom
Authors: Fryer Alan
Published: October 2007

Individuals and families affected by or at risk of genetic disorders may ask advice about the level of risk, the possibility of transmission of the disorder to offspring and possible preventative or therapeutic strategies. A comprehensive clinical genetic service has evolved to meet these needs.
Genetic Counseling Services: Outcomes
Authors: Skirton Heather
Published: October 2007

Outcome measures for genetic services have included reproductive behavior and retention of information. These outcomes do not always relate closely to the needs of clients. Psychological adaptation to the genetic risk or condition is an important outcome for the client.
Genetic Counseling: Impact on the Family System
Authors: Evans Christine , Street Eddy
Published: October 2007

From a family systems perspective, the psychological nature of genetic counseling brings to the surface past, present and future family issues for consideration. The manner in which families deal with this information is influenced by interactional patterns that may inhibit or allow emotional processing.
Genetic Carrier Testing
Authors: Henneman Lidewij , Welkenhuysen Myriam
Published: October 2007

Genetic carrier testing includes tests for the heterozygous status of an inherited disorder in individuals who, although apparently healthy themselves, have a high risk of transmitting the genetic disorder to their offspring. Genetic carrier tests are used by people who have a family history of an inherited disorder.
Genetic Counseling: Consanguinity
Authors: Mueller RF
Published: October 2007

Consanguineous marriages are uncommon in Western Europe and North America, whereas in many other parts of the world consanguineous marriage predominates. While consanguinity is routinely enquired after when obtaining a family history during genetic counseling, careful consideration should be given to the possible meaning attributed to that enquiry.
Clinical Genetics and Genetic Counseling Professionals: Attitudes to Contentious Issues
Authors: Wertz Dorothy C
Published: October 2007

Clinical genetics includes patient education, psychosocial counseling, genetic testing and screening, prenatal diagnosis and treatment. Providers include medical doctors, PhDs and specially trained genetic counselors with Master's degrees, who face ethically controversial situations in interactions with patients.
Genetic Counseling Communication: A Discourse‐analytical Approach
Authors: Sarangi Srikant
Published: October 2007

The rich and complex communication process that constitutes the activity of genetic counseling has largely remained a black box. Genetic counseling can encompass topics as diverse as the natural history of a genetic disorder, its treatability, lay genetic awareness, psychosocial aspects of coping, reproduction choices, the ethical and legal consequences of decisions, and privacy issues concerning the circulation of genetic information. Given this embedded nature of the communication process, a discourse‐analytical approach is an attempt to uncover the structural and thematic organization of genetic counseling as a situated speech event.
Familial Breast Cancer: Genetic Testing
Authors: Peshkin Beth N , Lerman Caryn E
Published: October 2007

Mutations in the genes
BRCA1
and
BRCA2
account for most cases of hereditary breast cancer. The process of genetic counseling helps prepare individuals for the complex medical and psychosocial issues raised by genetic testing.
Pregnancy Termination for Fetal Abnormality: Psychosocial Consequences
Authors: van Mourik Margaretha CA
Published: October 2007

Short‐ and longer‐term emotional and social sequelae are to be expected after a termination of pregnancy for fetal abnormality. It may be possible to identify couples who need extra support or intervention in order to learn to live with their decision.
Reproductive Genetic Screening: A Public Health Perspective from the United Kingdom
Authors: Al‐Jader Layla
Published: October 2007

Public health has several roles in reproductive genetic screening. It should emphasize the voluntary nature of these programs and ensure that people are adequately informed before making decisions and supported afterward. It must ensure that a central coordinating body will monitor the implementation and the outcome of these programs. Public health must also ensure that the definition of ‘success’ or ‘failure’ of a program is not based on too narrow monetary calculations.
Prenatal Screening: Impact on Normal Pregnancies
Authors: Ettorre Elizabeth
Published: October 2007

Focusing on the impact of prenatal screening on women's bodies, the paper sets the scene for an understanding of the social complexities of this type of screening. After looking briefly at the various types of procedures used during the prenatal period, I demonstrate how the mix of prenatal politics, reproductive genetics and gender creates threats to female embodiment. I contend that those of us working in the field need to construct new perceptions about how women's embodied experiences are shaped by these practices. As more prenatal technologies are being deployed, we need to expose the repressive dynamics at work.
Gene Therapy: Motivations for Research
Authors: Stockdale Alan
Published: October 2007

Genetics research, especially gene therapy research, might be seen as being conducted on behalf of those affected by the relevant disorders. However, the research process also might be motivated by the immediate concerns and circumstances of the researcher.
Inheritance and Society
Authors: Atkinson Paul , Bharadwaj Aditya , Featherstone Katie
Published: October 2007

The social practices and beliefs surrounding kinship, procreation and inheritance are highly varied. Certainly, they do not necessarily reflect the models of biological inheritance identified by genetic science. Such beliefs are not the preserve of ‘other’ cultures. There is research evidence of complex belief systems among Western populations that are not coterminous with genetic science.
Expression AnalysisIn vivo: Cell Systems
Authors: Dirks Roeland W , Tanke Hans J
Published: October 2007

Gene expression involves ribonucleic acid (RNA) synthesis and processing, RNA transport and protein synthesis and localization, which are dynamic processes in time and space. With the advent of nucleic‐acid probe and green fluorescent protein technologies, and developments in real‐time microscopy, it is possible now to study these processes at real time in single cells, meaning that information concerning transcription, protein localization and protein–protein interactions can be obtained from genes whose functions might be known or unknown.
Rett Syndrome
Authors: Bradbury Margaret K , Hoffbuhr Kristen C , Hoffman Eric P
Published: October 2007

Rett syndrome is a neurological disease of early postnatal brain growth found almost exclusively in girls and is the third most common cause, after Down syndrome and Fragile X syndrome, of severe mental retardation. Typically, girls with Rett syndrome show developmental regression including loss of communication and motor skills, stereotypic hand movements and a deceleration of head growth. The defective gene, methyl CpG binding protein 2 (Rett syndrome) (MECP2) is normally involved in the transcription silencing of genes (turning genes ‘off ’). In Rett syndrome, the MECP2 protein does not work properly in approximately half of the patient's cells due to X inactivation. This is thought to lead to inappropriate communication between MECP2‐positive and MECP2‐negative cells in the brain, and the Rett syndrome phenotype.
Brown, Michael Stuart
Authors: Witkowski JA
Published: October 2007

Michael Stuart Brown (1941–) was an American scientist who, with Joseph Goldstein, elucidated the molecular mechanisms of cholesterol synthesis and the clinical consequences of their abnormalities.
Adenovirus Vectors in Gene Therapy
Authors: Graham FL , Hitt MM
Published: October 2007

Adenovirus vectors are widely used for delivery of foreign deoxyribonucleic acid to mammalian cells. They are important tools in research and for use in gene therapy and vaccines.
Adeno‐associated Viral Vectors in Gene Therapy
Authors: Zhong Li , Srivastava Arun
Published: October 2007

Recombinant vectors based on a nonpathogenic human parvovirus, the
Adeno‐associated virus
2 (AAV), have gained attention as a potentially safe and useful alternative to the more commonly used retroviral and adenoviral vectors. AAV vectors are currently in use in phase I/II clinical trials for gene therapy of a number of diseases such as cystic fibrosis, α‐1 antitrypsin deficiency, muscular dystrophy, Batten disease and Parkinson disease. Several salient features of AAV vectors and the availability of promising results with animal models of human diseases provide the impetus to suggest that they will be used in potential gene therapy of a number of human diseases, both genetic and acquired, in not too distant a future.
Cardiovascular Disease: Gene Therapy
Authors: Morishita Ryuichi
Published: October 2007

Recent progress in molecular and cellular biology has developed numerous effective cardiovascular drugs. However, there are still a number of diseases for which no known effective therapy exists, such as peripheral arterial disease, ischaemic heart disease and vascular bypass graft occlusion. Currently, gene therapy is emerging as a potential strategy for the treatment of cardiovascular disease to treat such diseases despite its limitation. The first human trial in cardiovascular disease was started in 1994 to treat peripheral vascular disease using vascular endothelial growth factor (VEGF). Since then, many different potent angiogenic growth factors have been tested clinically to treat peripheral arterial disease and ischaemic heart disease. Improvement of clinical symptoms in peripheral arterial disease and ischaemic heart disease has been reported. In addition, another strategy for combating disease processes is to target transcriptional process, that has been tested in a human trial.
Autoimmune Diseases: Gene Therapy
Authors: Purath Ulrich , Tarner Ingo H , Fathman C Garrison
Published: October 2007

Gene therapy is a method of reconstituting or altering gene expression that can be used to correct genetic defects or inappropriate immune responses that occur in autoimmune diseases. The efficacy of this approach can be successfully tested in animal models of autoimmune diseases prior to application in human autoimmune disease.
Centromeres
Authors: Haaf Thomas
Published: October 2007

The centromere is an essential
cis
‐acting chromosomal locus that ensures the segregation of chromosomes in mitosis and meiosis. Cytologically, it localizes to the primary constriction of the condensed mitotic chromosomes, at which sister chromatids are associated and a pair of kinetochores are formed.
Chromosomes in Mammals: Diversity and Evolution
Authors: Wienberg Johannes , Müller Ludwig Stefan
Published: October 2007

Inspecting the morphology of chromosomes in different species has been a classical tool for evolutionary biologists. Probes ranging in size from whole chromosomes to a few hundred base pairs can be seen under the microscope and assigned to unique regions of the genomes of different species. They have different resolutions and, in analogy, delineate entire continents, countries or even villages, streets and houses of the genome.
Chromosome Numbers in Mammals
Authors: Scherthan Harry
Published: October 2007

Knowledge of chromosome numbers and morphology among mammalian species provided a first glimpse of the extent of karyotype reorganization that occurred in the course of mammalian radiation. The mammalian karyotypic diversity stimulated research in the mechanisms and sequences of chromosome rearrangements that shaped the present‐day karyotypes.
Chromosome 2
Authors: Vlangos Christopher N , Hildebrandt Friedhelm
Published: October 2007

Human chromosome 2 is the second largest human chromosome. This submetacentric chromosome, which contains ∼8% of the genetic material in the genome, originated from a telomere–telomere fusion during hominoid evolution. It is characterized by a number of gene clusters including homeobox D and immunoglobulin κ light chain.
Chromosome 8
Authors: Hilton Matthew J , Wells Dan E
Published: October 2007

Chromosome 8 is a submetacentric chromosome containing about 5% of the euchromatic human genome that is associated with approximately 96 diseases or syndromes. Notably, it contains a region of strikingly high mutation rate in which the majority of the genes are involved in development or signalling of the nervous system.
Chromosome 15
Authors: Farra Chantal , Morton Cynthia C
Published: October 2007

Human chromosome 15 is an acrocentric chromosome that contains approximately 3% of the genetic material in the genome. Although comparatively gene‐poor, it contains a ribosomal ribonucleic acid (rRNA) gene cluster and a number of imprinted genes.
Chromosome 21
Authors: Yahya‐Graison Emilie Ait , Delabar Jean Maurice
Published: October 2007

Human chromosome 21 is the smallest of the five acrocentric chromosomes and contains ∼1.4% of the genetic material in the genome. Although relatively gene‐poor, it contains around 10 genes Mb–1, a ribosomal ribonucleic acid (rRNA) gene cluster and three keratin‐associated protein clusters.
Lung Cancer: Genetics
Authors: Cote Michele L , Schwartz Ann G
Published: October 2007

There exists sufficient evidence supporting a genetic component to lung cancer development. However, the genes involved and the exact mechanisms underlying individual susceptibility to lung cancer development are still unclear. Advances in cellular biology and laboratory methods are rapidly evolving and will provide further insight about the genetic basis of this disease.
Thrifty Gene Hypothesis: Challenges
Authors: McDermott Robyn
Published: October 2007

Type 2 diabetes has in the past been claimed to be genetically determined. However, nongenetic metabolic effects including complex social determinants better explain the current epidemic of obesity and diabetes worldwide.
Ethnic Inequalities in Health
Authors: Nazroo James Y
Published: October 2007

The patterning of ethnic inequalities in health is complex, as are possible explanations for the inequalities. Empirical evidence suggests that social inequalities are more relevant than genetic differences.
Genetic Futures and the Media
Authors: Wilkie Tom
Published: October 2007

On balance, the media represent human genetics in a positive light but this is not always appreciated by researchers and medical professionals who frequently fail to appreciate the complexity of the relations between the media and genetics. Economic and cultural factors unrelated to the science influence coverage, while the scientific community itself operates double standards by failing to carry over standards of rigor from scientific to public discourse.
Public and Professional Understandings of Genetics
Authors: Cunningham‐Burley Sarah
Published: October 2007

Knowledge generated by human genetic research is interpreted differently by different population groups. Public and professional understandings are both relevant in the context of the social issues that genetics raises for human health.
Genetic Risk: Social Construction
Authors: Parsons Evelyn P , Bradley Don M
Published: October 2007

Social constructionism is an approach within the social sciences that challenges traditional assumptions about the objectivity of scientific and medical facts. Social constructionists would argue that genetic risk is not a mathematical entity that has independent reality, but is a social fact that is constantly negotiated and constructed by individuals, scientists and clinicians in their everyday lives.
Creationism
Authors: Ruse Michael
Published: October 2007

Creationism is the product of a particular form of US evangelical religion. It is opposed to evolutionary ideas and, after a century and a half of ongoing activity – including the Scopes trial in 1925, the publication ofGenesis Floodin 1961, and the Arkansas Creationism trial of 1981 – thrives at the dawn of the twenty‐first century under the name of ‘Intelligent design’.
Art and Genetics
Authors: Davis Joe , Boyd Dana , O'Reilly Hunter , Wieczorek Marek
Published: October 2007

A growing group of artists is addressing controversial developments in genetics and genomic research. Many of these artists represent social, political or ethical implications of this research in a broad variety of art forms.
Heredity: Lay Understanding
Authors: Richards Martin PM
Published: October 2007

There is a general knowledge of inheritance among the lay public that conflicts with scientific Mendelian accounts and may impede the uptake of scientific explanations. There is a strong case for a ‘bottom‐up’ approach to genetic education, which takes account of varying needs and interests in genetic knowledge as well as lay knowledge of inheritance.