bluuebunny/crossref_metadata_2025_split huggingface dataset:
Repetitive Action Potential Firing
Authors: Canavier CC , Baxter DA , Byrne JH 
Published: September 2006

Abstract
The biophysical basis of repetitive action potential firing can be understood in terms of the opposing positive and negative feedback processes that generate the repetitive activity. The relative time scales of these processes, which can include ion channel activation and inactivation as well as ion accumulation within a cell, are a key factor in the generation of repetitive single‐spike firing, intrinsic burst firing and network burst firing.
Adrenaline and Noradrenaline: Introduction
Authors: Stanford S Clare 
Published: September 2006

Abstract
Adrenaline and noradrenaline are found in the adrenal gland and in neurons of the peripheral (autonomic) and central nervous systems. Synthesis of these catecholamines is tightly regulated and ensures that their supply is coupled to the rate of their release. Both adrenaline and noradrenaline help to maintain internal body state (‘homeostasis’) but, in the brain, they are thought also to influence arousal and mood.
Oestrogen Regulation of Sexual Behaviour, Mood and Cognition
Authors: Almeida OFX , Condé GL , Sousa N 
Published: September 2006

Abstract
Oestrogens are steroid hormones that act through specific receptors in the brain to influence sexual behaviour, as well as mood and cognition. Oestrogen actions include alterations of neuronal excitability, neurotransmitter synthesis and metabolism, neuronal circuitry and neuronal survival, one or all of which may contribute to their effects on mood and cognition.
Extinction
Authors: MacLeod Norman 
Published: September 2006

AbstractExtinction is the act or process of dying‐out of a species or evolutionary lineage. It is one of the commonest of all ecological/evolutionary processes and represents the inevitable corollary of natural selection. Information on extinction comes from many sources, including laboratory experiments, field studies and the fossil record. The causes of short‐term extinctions involving few species can, in principle, be well understood. The causes of long‐term extinction events, such as those preserved in the fossil record, remain controversial.
Primates (Lemurs, Lorises, Tarsiers, Monkeys and Apes)
Authors: Rosenberger Alfred L , Hartwig Walter C 
Published: September 2006

Abstract
Primates are an order of mammals characterized by a generalized arboreal anatomy and relatively large brains. Primates are found throughout the tropics and temperate latitudes of the world and are among the most endangered of all mammalian orders.
Caenorhabditis elegans Embryo: Establishment of Asymmetry
Authors: Rose Lesilee S , Basham Stephen E 
Published: September 2006

Abstract

In
Caenorhabditis elegans
, anterior/posterior asymmetry is established in the one‐cell embryo in response to the sperm's position. Polarity proteins become localized in cortical domains and function to produce asymmetric expression patterns of regulators of developmental fate.
Mumps Virus
Authors: Duprex W Paul , Rima Bertus K 
Published: September 2006

Abstract

Mumps virus
is a nonsegmented negative‐stranded ribonucleic acid (RNA) virus belonging to the family
Paramyxoviridae
, which causes a childhood disease characterized by swelling of the salivary glands (parotitis) and the testes (orchitis).
Syphilis
Authors: Wright David JM , Norris Steven J 
Published: September 2006

Abstract

Syphilis is a sexually transmitted disease caused by the bacterium
Treponema pallidum
subspecies
pallidum
. It is usually classified as having an infectious phase, primary and secondary lesions, and the now less common noninfectious late stages. Diseases transmitted by nonsexual skin‐to‐skin contact (usually during childhood or adolescence) are caused by the closely related organisms
T. pallidum
subsp.
pertenue
(which causes yaws),
T. pallidum
subsp.
endemicum
(endemic syphilis) and
T. carateum
(pinta).
Reoviruses
Authors: Tran Anh T , Coombs Kevin M 
Published: September 2006

AbstractReoviruses are infectious agents, transmitted by respiratory and faecal–oral routes, which are not major human pathogens. The viruses are distinguished by having a genome of 10 segments of double‐stranded ribonucleic acid (dsRNA) that is located inside a double‐layered, spherical nonenveloped protein capsid. The capsid is incompletely uncoated during viral replication.
Bornaviruses
Authors: Lipkin W Ian , Briese Thomas 
Published: September 2006

Abstract

Borna disease virus
is a neurotropic, nonsegmented negative‐strand ribonucleic acid (RNA) virus that is currently the only known member of the family
Bornaviridae
within the order
Mononegavirales
. It appears to be distributed worldwide and has the potential to infect most, if not all, warm‐blooded hosts, causing disorders of the central nervous system.
Bacterial Chromosome
Authors: Kellenberger Eduard 
Published: September 2006

Abstract
Under conditions of active growth, bacteria replicate their deoxyribonucleic acid (DNA) and divide with generation times as short as 20–25 min; similarly rapid rates are practically unknown in other taxa. In contrast to the typical eukaryotic cell, DNA transcription, translation and replication occur simultaneously and at nearby locations. The highly dynamic processes lead to a reticulation of DNA and ribonucleic acid (RNA), permitting optimization of messenger RNA (mRNA) interaction (number of contacts) with ribosomes.
Genes: Types
Authors: Berg Lutz‐Peter , Cooper David N 
Published: September 2006

Abstract
A gene is a segment of DNA that contains in its nucleotide sequence the information to make protein or RNA molecules. Genes are passed on from parent to offspring and therefore constitute the basic units of heredity. The human genome contains more than 30000 protein‐coding genes, several thousand genes for noncoding RNA molecules and many thousands of pseudogenes – the nonfunctional by‐products of gene evolution.
Glutamate Receptors
Authors: Tsuzuki Keisuke , Ozawa Seiji 
Published: September 2006

AbstractGlutamate receptors mediate most of the excitatory neurotransmission in the central nervous system. They are also involved in plastic changes in synaptic transmission and neuronal cell death in a variety of acute and chronic neurological disorders. Twenty‐five subunit complementary DNAs have been cloned in rodent brains and 24 genes have been identified in the human genome.
DNA
Polymerases: Eukaryotic
Authors: Hübscher Ulrich 
Published: September 2006

Abstract
Deoxyribonucleic acid (DNA) polymerases are enzymes that can use the four bases A, T, G and C to synthesize DNA according to the Watson–Crick base‐pair rule (A to T and G to C). They require a template DNA and a nucleic acid (ribonucleic acid or DNA) for initiation of DNA synthesis and use the energy of the four deoxyribonucleoside 5′ triphosphates to incorporate deoxyribonucleoside 5′ monophosphates onto the template DNA.
Pax
Genes: Evolution and Function
Authors: Bouchard Maxime , Schleiffer Alexander , Eisenhaber Frank , Busslinger Meinrad 
Published: September 2006

Abstract

The transcription factors of the Pax protein family have been conserved throughout metazoan evolution and play essential roles in brain development and organogenesis. Loss‐of‐function and gain‐of‐function mutations in
PAX
genes cause inherited disease syndromes and tumor formation respectively.
Schizophrenia: Molecular Genetics
Authors: Owen Michael J 
Published: September 2006

Abstract

Molecular genetic studies of schizophrenia have used both linkage and association approaches. Both types of study have resulted in conflicting findings, and unequivocal evidence for linkage or association is as yet lacking. However, systematic linkage studies have revealed several chromosomal areas of potential interest, and candidate gene association studies have suggested that variation within the
HTR2A
and
DRD3
genes might confer susceptibility.
ELSI
Research Program of the National Human Genome Research Institute (
NHGRI
)
Authors: Boyer Joy T , McEwen Jean E , Thomson Elizabeth J 
Published: September 2006

Abstract
The US Ethical, Legal and Social Implications Research Program of the National Human Genome Research Institute of the National Institutes of Health was created in 1990 to anticipate and address the implications of human genome research for individuals, families and society.
Genetic Factors in Life Insurance: Actuarial Basis
Authors: MacDonald Angus S 
Published: September 2006

Abstract
Insurance risk assessment is based on probabilistic models of the the timing and/or severity of the event insured against. In the presence of genetic risk factors, the problem is similar to estimating age‐related penetrance and survival rates. There are no data from insurers' past experience; all studies rely on the medical literature. Very little research has been done, but multifactorial disorders may tentatively be concluded to have little relevance for life insurance.
Protein Targeting
Authors: Brown Dennis 
Published: September 2006

AbstractProtein sorting is the process by which cellular proteins, both newly synthesized and recycling, are directed to the appropriate intracellular compartments in which they will perform their function. This process relies upon the targeting signals that are found within each protein. These specific signals direct the interaction of proteins with a multitude of accessory ‘targeting and trafficking’ factors to ensure the correct delivery of the proteins to their appropriate destinations within each cell.
Long Interspersed Nuclear Elements (LINEs): Evolution
Authors: Furano Anthony V , Boissinot Stéphane 
Published: September 2006

Abstract
Long interspersed nuclear element 1 (LINE‐1) repeated DNA elements replicate by copying (reverse transcribing) their RNA transcript into DNA, which then becomes integrated into the genome. These elements lack long terminal repeats and are thus called non‐LTR retrotransposons. LINE‐1 elements constitute the main family of retrotransposons in mammals, where they have been replicating and evolving since before the mammalian radiation about 100 million years ago.
Recombinant DNA
Authors: Dear Paul H 
Published: September 2006

Abstract
Recombinant deoxyribonucleic acid (DNA) is that which has been created by cutting and joining naturally occurring or synthetic DNA, producing molecules unlike those seen in nature. Recombinant molecules are most commonly made as a means of propagating an isolated fragment of DNA in bacteria, to obtain large amounts of the fragment for sequencing or other purposes.
HAPPY Mapping
Authors: Dear Paul H 
Published: September 2006

Abstract

HAPPY mapping is a versatile
in vitro
method for making genome maps. Genomic deoxyribonucleic acid (DNA) is broken randomly and diluted to the point where samples contain only a few molecules. If two sequences (‘markers’) are then found together in the same sample, this implies that they are on the same DNA fragment and therefore adjacent in the genome.
Representational Difference Analysis
Authors: Groot Peter C , van Oost Bernard A 
Published: September 2006

Abstract
Representational difference analysis (RDA) is a highly sensitive technique for the identification of differences between complex deoxyribonucleic acid samples. RDA is based on polymerase chain reaction amplification in combination with multiple rounds of subtractive hybridization and can be used for the identification of unknown pathogens, genetic lesions in cancer and polymorphic markers linked to a trait without the use of a preexisting map, as well as for the identification of differentially expressed genes.
Relatives‐based Nonparametric Analysis of Linkage
Authors: Gray‐McGuire Courtney , Olson Jane M 
Published: September 2006

Abstract
Some linkage methods do not depend on prior specification of a model of inheritance for the trait of interest. Based on identity‐by‐descent allele sharing information on pairs or sets of related individuals, these methods can be used to assess linkage to both qualitative and quantitative traits.
Linkage Disequilibrium
Authors: Croucher Peter JP 
Published: September 2006

AbstractWhen two or more polymorphic loci are studied in a population, the interaction between the loci is often expressed in terms of linkage disequilibrium (LD). The loci are in LD if their respective alleles do not associate independently. The degree of over‐ or underrepresentation of the expected haplotypes measures the extent of LD. Recombination acts to reduce LD.
Relatives‐based Test for Linkage Disequilibrium: The Transmission/Disequilibrium Test (TDT)
Authors: Spielman Richard S , Ewens Warren J 
Published: September 2006

Abstract
Genes that contribute to complex genetic diseases can sometimes be identified by studies that show genetic linkage, or association, with marker genes. The transmission/disequilibrium test is a procedure that tests for the simultaneous presence of these two genetic phenomena.
Genetic Drift
Authors: Bohonak Andrew J 
Published: September 2006

Abstract
Genetic drift consists of changes in allele frequencies due to sampling error. Even if all individuals in a population have the same opportunities to mate, their reproductive contributions to the next generation will vary due to random chance alone. In any population of finite size, this sampling error will cause gene frequencies to fluctuate from generation to generation. Genetic changes due to drift are neither directional nor predictable in any deterministic way. Nonetheless, genetic drift leads to evolutionary change even in the absence of mutation, natural selection or gene flow.
Group Selection
Authors: Dugatkin Lee Alan 
Published: September 2006

Abstract
Group selection refers to the process of natural selection at the level of the group. Groups are collections of individuals that affect each other's fitness. Group selection partitions the effect of selection into ‘within‐group’ and ‘between‐group’ components. When between‐group selection is strong relative to within‐group selection, highly altruistic behaviors may evolve.
Migration
Authors: Barbujani Guido 
Published: September 2006

Abstract
Migration is the movement of individuals in geographic space. When that movement has genetic consequences, migration determines gene flow. By introducing new genes where they were previously absent, migration increases genetic diversity within populations and reduces the differences among them. As a rule, groups that dwell close to each other tend to exchange more migrants than distant or isolated groups. But there are exceptions, especially during demographic expansions and when the populations are subdivided by geographic or cultural barriers. Rates and patterns of migration can be reconstructed from the analysis of genetic data.
Allelic and Locus Heterogeneity
Authors: Scriver Charles R 
Published: September 2006

Abstract
‘Allelic heterogeneity’ implies that different alleles in the same gene can cause a similar variant phenotype. Genetic or ‘locus (nonallelic) heterogeneity’ implies that mutation in different genes may explain one variant phenotype. When simultaneous expression of mutations in different genes is necessary the phenotype is said to reflect digenic or oligogenic inheritance
Disease‐related Genes: Identification
Authors: Banfi Sandro , Ballabio Andrea 
Published: September 2006

Abstract
The identification of a disease gene is a crucial step in the development of diagnostic procedures and in the understanding of the pathogenetic mechanisms underlying the disease. Strategies for the identification of genes involved in the pathogenesis of human disease can involve either those used in the presence of known loci (mainly positional candidate genes) or those used when the locus is unknown (functional cloning and candidate genes).
Gain‐of‐function Mutations in Human Genetic Disorders
Authors: Weinstein Lee S 
Published: September 2006

Abstract
Gain‐of‐function (activating) mutations alter the amino acid sequence of gene protein products, generating proteins that have increased constitutive activity even in the absence of physiological activators or that are insensitive to negative regulation. Many of these mutations affect signaling molecules, leading to disorders resulting from constitutive activation of hormonal and other signaling pathways.
Repetitive Elements and Human Disorders
Authors: El‐Sawy Mohammed , Deininger Prescott 
Published: September 2006

Abstract
Repetitive elements comprise over 50% of the mammalian genome, the majority of these being made up of mobile elements. Although most of the mobile elements are inactive, a number are still actively amplifying. This results in a significant level of insertional mutagenesis. Mobile elements contribute even more to aberrant recombination events that produce germ‐line mutations, as well as probably playing a major role in genetic instability in cancer. Other repetitive elements, such as chromosomal duplications and microsatellites (particularly triplet repeats), also lead to genetic damage.
Transcription Factors and Human Disorders
Authors: Semenza Gregg L 
Published: September 2006

AbstractTranscription factors play a major role in the regulation of gene expression which underlies human development, physiology and pathophysiology. Germ‐line mutations in genes encoding transcription factors are responsible for a large number of congenital malformation syndromes. Somatic mutations in these genes also play important roles in the pathogenesis of cancer.
Factor V Leiden
Authors: Dahlbäck Björn 
Published: September 2006

Abstract

Factor V (FV) Leiden is the most common genetic risk factor for venous thrombosis. It is caused by a single point mutation in the factor V gene (
F5
), which results in the replacement of arginine at position 506 with a glutamine. Arginine 506 constitutes one of three cleavage sites for activated protein C (APC) and FV Leiden is resistant to APC cleavage at this site. The FV Leiden mutation is estimated to have occurred around 30000 years ago in a Caucasian ancestor.
Pharmacogenetics and Pharmacogenomics
Authors: Nebert Daniel W 
Published: September 2006

Abstract
Since we all differ from one another by at least 1 million bases out of the 3.2 billion bases in our genome, each of us might have variant alleles in most of our genes that affect drug absorption, transporters, channels, receptors, metabolism, signaling pathways and excretion. With knowledge of the variant alleles that cause interindividual variations in response to pharmaceutical agents, pharmacogenomics aims to provide new strategies for optimizing drug therapy based on each patient's genetic determinants of drug efficacy and toxicity.
DNA Chips and Microarrays
Authors: Orntoft Torben F , Kruhøffer Mogens 
Published: September 2006

AbstractParallel analyses of thousands of molecules based on hybridization to nucleotides are carried out on microarrays. The large amount of data generated from scanning such arrays needs bioinformatic handling in the form of noise filtering, calibration and normalization to be ready for experimental comparison with other arrays. This may provide insight into regulatory pathways and lead to reclassification of diseases.
Adeno‐associated Viral Vectors in Gene Therapy
Authors: Srivastava Arun 
Published: September 2006

Abstract

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 cystic fibrosis and hemophilia B. 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.
Herpes Simplex Viral
Vectors in Gene Therapy
Authors: Fink David J , Glorioso Joseph C 
Published: September 2006

Abstract

Herpes simplex virus
(HSV) is a human pathogen that naturally establishes a life‐long latent infection of human peripheral sensory neurons. Genetically modified recombinant HSV vectors have been constructed that are incapable of replication, but nonetheless efficiently infect and establish a latent‐like state in neurons
in vitro
and
in vivo
without the ability to reactivate. These vectors can be used to transfer and express genes in the nervous system using natural expression mechanisms already present in the virus genome. These products are designed to modify the structure and/or function of neuronal elements, and represent a novel therapeutic strategy for diseases of the nervous system.
Autoimmune Diseases: Gene Therapy
Authors: Costa Gina L , Benson Jacqueline M , Fathman C Garrison 
Published: September 2006

Abstract
Gene therapy is a method of repairing or altering gene expression that can be used to correct inappropriate immune responses that occur in autoimmune disease. The efficacy of this approach can be successfully tested in animal models of autoimmune disease prior to application for human autoimmune disease.
Mitosis: Chromosome Segregation and Stability
Authors: Michel Loren , Benezra Robert 
Published: September 2006

Abstract
Mammalian cells are charged with the task of evenly distributing 46 chromosomes to each of two daughter cells during every mitotic cell cycle. Abnormal function of any one of the numerous genes involved in this process can result in the aberrant transmission of chromosomes from the parental cell to its progeny.
Chromosome 2
Authors: Hildebrandt Friedhelm 
Published: September 2006

Abstract
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 kappa light chain.
Chromosome 19
Authors: Olsen Anne S 
Published: September 2006

Abstract
Human chromosome 19 is a metacentric chromosome that contains 1.9% of the genetic material in the genome. It has the highest G+C content of all the chromosomes and also the highest content, relative to size, of repetitive sequences, CpG islands and genes. It is characterized by gene clusters including cytochrome P‐450, olfactory receptors and Kruppel‐like zinc finger proteins.
Systems Biology: Genomics Aspects
Authors: Konopka Andrzej K 
Published: September 2006

Abstract
Systems biology is concerned with functionally complex systems (such as an organism, immune system or ecosystem) that can be approximately described by several complementary models but cannot be adequately represented by a single model. It addresses foundational issues of ‘entire’ biology (such as system modeling, fractionation, integration and emergence) but it is also devoted to specific techniques for data integration and interpretation. This brings systems biology right in the middle of the old controversy between reductionism and holism.
Clustering of Highly Expressed Genes in the Human Genome
Authors: Versteeg Rogier 
Published: September 2006

Abstract
The Human Genome Project has identified a large proportion of human genes and their chromosomal positions, and high‐throughput technologies have been developed to measure the activity of all genes in tissues or cell lines. In the human transcriptome map, these two developments are integrated to establish a genome‐wide expression profile, in turn suggesting an unexpected higher‐order organization of the human genome.
Promoter Haplotypes and Gene Expression
Authors: Joosten Paulus HLJ 
Published: September 2006

Abstract
There is an estimated 0.1% difference between any two human genomes. The differences occur predominantly outside protein‐coding regions and result in, for example, different promoter haplotypes. The generation of a high‐resolution human genomic sequence will allow us to investigate the role of genetic variance in common diseases, which tend to be multifactorial with a non‐Mendelian inheritance.