bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antimicrobials against Streptococci, Pneumococci and Enterococci
Authors: Donabedian Susan , Woodford Neil , Palepou Marie‐France I , Johnson Alan P 
Published: September 2006

Abstract
Streptococci, pneumococci and enterococci are important bacterial pathogens of humans and can cause a range of disease. Although effective antibiotic treatments exist, threats to public health are posed by antibiotic‐resistant strains of these bacteria.
3′ UTRs and Regulation
Authors: Hesketh John 
Published: September 2006

Abstract
Messenger RNAs contain sequences that do not encode proteins and are not translated. These occur at the 5′ and 3′ ends of the coding region and are referred to as untranslated regions (UTRs). 3′ UTRs have various roles in the posttranscriptional control of gene expression.
Structural Proteins: Genes
Authors: Chu Mon‐Li 
Published: September 2006

Abstract
Structural proteins are proteins required for the building and support of body tissues. These include collagens, which provide the integrity and tensile strength of connective tissues, bone and cartilage, and myosins, which are important for the elasticity and contractility of muscles. Genes for structural proteins are usually present as a single copy per haploid genome.
Alternative Promoters: Duchenne Muscular Dystrophy (
DMD
) Gene
Authors: Nudel Uri 
Published: September 2006

Abstract
The Duchenne muscular dystrophy gene is the largest and one of the most complex genes known to date. Four 5′ promoters regulate, in a cell‐type‐specific manner, the expression of full‐length gene product, the protein called dystrophin. In addition, four internal promoters regulate the expression of smaller proteins which lack important parts of dystrophin, and probably have different functions.
CpG Islands and Methylation
Authors: Antequera Francisco 
Published: September 2006

Abstract
Most CpG dinucleotides in the human genome are methylated at position 5 of cytosine. Methylated sequences are associated with transcriptional repression and an inactive chromatin conformation. In contrast, CpG islands are nonmethylated, G + C‐rich regions of approximately 1 kb in length that represent approximately 1% of the genome. In the great majority of cases, they are located at the 5′ end of more than half of all human genes.
Enhancers
Authors: Bulger Michael , Groudine Mark 
Published: September 2006

Abstract
Enhancers are deoxyribonucleic acid sequence elements that are capable of activating transcription from linked promoters independent of their orientation or position with respect to the promoter. They are the primary elements responsible for tissue‐specific gene expression in multicellular eukaryotes, and appear to work largely by counteracting repression by chromatin.
Negative Regulatory Elements (NREs)
Authors: Hampsey Michael 
Published: September 2006

Abstract
Negative regulatory elements (NREs) are DNA sequences that repress gene expression. NREs can act locally to repress the expression of individual genes, or globally to repress the expression of a expansive chromosomal domain. In either case, NREs act as binding sites for specific proteins, which in turn interact with other factors either to block the recruitment of RNA polymerase or to facilitate the formation of heterochromatin.
snoRNPs
Authors: Pogačić Vanda , Filipowicz Witold 
Published: September 2006

Abstract

snoRNPs are nucleolus‐localized ribonucleoprotein particles that comprise small RNAs (snoRNAs) and a few associated proteins. Known snoRNPs can be subdivided into two major classes, C/D and H/ACA, which direct site‐specific 2′‐
O
‐ribose methylation and pseudouridylation of ribosomal RNA (rRNA) respectively. Some snoRNPs participate in precursor rRNA processing.
Locus Control Regions (LCRs)
Authors: Bulger Michael , Groudine Mark 
Published: September 2006

Abstract
Locus control regions (LCRs) are defined as DNA sequence elements that confer high‐level, tissue‐specific expression to stably integrated transgenes in a position‐independent manner. As such, LCRs mediate gene activation and render a high proportion of genomic integration sites permissive for such expression, and are distinguished from simple enhancers.
Splicing of pre‐mRNA
Authors: Newman Andrew 
Published: September 2006

Abstract
Eukaryotic messenger ribonucleic acids (mRNAs) are transcribed as precursors containing introns, which are excised by splicing together the surrounding exon sequences to produce the mature mRNA. Alternative splicing of precursor mRNAs in higher eukaryotes contributes to proteomic diversity by allowing a single gene to direct the synthesis of functionally diverse proteins.
Leucine Zippers
Authors: Hakoshima Toshio 
Published: September 2006

Abstract

The leucine zipper (ZIP) motif consists of a periodic repetition of a leucine residue at every seventh position and forms an α‐helical conformation, which facilitates dimerization and in some cases higher oligomerization of proteins. In many eukaryotic gene regulatory proteins, the ZIP motif is flanked at its
N
‐terminus by a basic region containing characteristic residues that facilitate DNA binding.
Transmembrane Domains
Authors: Ramasarma T , Joshi NV 
Published: September 2006

AbstractOne or more passes of polypeptide chains of the lipid bilayer, each consisting of about 25 hydrophobic residues with the occasional presence of a polar residue, anchor integral proteins in the cell membrane. These are known as transmembrane domains and participate in the functions of these proteins in some unspecified way. Encoded by a random exon make‐up, sequences of these short stretches are highly variable with hardly any repetition.
Forkhead Domains
Authors: Kaufmann Eckhard , Knöchel Walter 
Published: September 2006

Abstract
The forkhead domain or box represents an evolutionarily conserved DNA‐binding motif of winged helix structure that has a degree of similarity to the helix–turn–helix motif found in other DNA‐binding proteins. Forkhead box (Fox) proteins are involved in a variety of biological processes such as early embryogenesis, organogenesis, tumorigenesis and signal transduction.
Paralogous Genes and Gene Duplications
Authors: Lundin Lars‐Gustav , Larhammar Dan , Hallböök Finn 
Published: September 2006

Abstract
Paralogous genes exist within the genome of a particular species, have a common ancestry, and are the result of gene duplications. These duplications take place by a variety of mechanisms and may involve individual genes, chromosome regions, chromosomes or even entire genomes (tetraploidization). Gene duplications have facilitated the evolution of more complex organisms.
Human Populations: Evolution
Authors: Cann Rebecca L 
Published: September 2006

Abstract
Human populations began a separate evolutionary genetic trajectory about 6 million years ago, but the common ancestors of all modern human populations share a more recent past, and generally trace back to less than 1 million years ago. Estimating the exact age of these genetic ancestors, who likely came out of Africa and dispersed around the world, depends on the particular set of genes examined.
Introns: Movements
Authors: Long Manyuan , Cerff Rüdiger 
Published: September 2006

Abstract
Introns can be lost, gained or displaced more or less frequently in evolution and in a lineage‐specific manner. These movements, leading to major mutations in eukaryotic genes and genomes, can happen at the deoxyribonucleic acid (DNA) level or involve ribonucleic acid (RNA) intermediates.
Introns: Phase Compatibility
Authors: Patthy László 
Published: September 2006

Abstract
Introns that lie between coding regions of protein‐coding genes may be assigned to three different phase classes, depending on their position relative to the reading frame of the translated protein: phase 0 (located between two codons), phase 1 (splitting codons between the first and second nucleotides) or phase 2 (splitting codons between the second and third nucleotides). In the case of protein‐coding genes with a unique pattern of pre‐mRNA splicing (and a unique protein product), the 5′and 3′ splice junctions of an intron always belong to the same phase class (as defined by the unique protein product).
Gene Duplication: Evolution
Authors: Li Wen‐Hsiung 
Published: September 2006

AbstractGene duplication is the major source of genetic novelties, because a duplicate copy may be free to change to a new function. Indeed, genome sequencing and statistical analyses have revealed that each eukaryotic genome contain numerous duplicate genes. Furthermore, there is evidence that a genome duplication occurred in the common ancestor of vertebrates and this might has been important for the diversification and organismal complexity of vertebrates.
Molecular Clocks
Authors: Li Wen‐Hsiung , Makova Kateryna D 
Published: September 2006

Abstract
The molecular clock hypothesis postulates that the rate of evolution in a macromolecule is approximately constant per year over time and among different evolutionary lineages. While local clocks in closely related organisms with similar generation times can be useful for dating evolutionary events, strong evidence now suggests that no global or universal clock exists in mammals.
Pseudogenes: Patterns of Mutation
Authors: Martínez‐Arias Rosa , Calafell Francesc , Bertranpetit Jaume 
Published: September 2006

Abstract
Pseudogenes lack biological function and are therefore free from selective pressure. This makes them extremely useful tools for the study of mutation processes and especially to estimate the pattern of spontaneous mutation in the genome. The nonrandomness of the mutational processes and the existence of mutational hot spots have also been deduced from studies on pseudogenes.
Gene Families: Multigene Families and Superfamilies
Authors: Ohta Tomoko 
Published: September 2006

Abstract
Multigene families are defined as groups of genes with sequence homology and related overlapping functions, whereas superfamilies are defined as a group of proteins or genes of common origin with nonoverlapping functions. If a group of proteins or genes contains a domain of common origin, it is a superfamily; a protein or a gene may belong to two or more superfamilies.
Reading and Dyslexias
Authors: Smith Shelley D , Deffenbacher Karen E , Brower Amy M 
Published: September 2006

Abstract
Specific reading disability (dyslexia) is an unexplained difficulty in learning to read and spell despite adequate intelligence and opportunity and without demonstrable sensory or neurologic handicap. Twin and family studies have demonstrated a genetic component to the variation in reading ability, and gene localization studies have identified several candidate regions, with strongest support for a gene at 6p21.3.
Identical Twins Reared Apart
Authors: Bouchard Jr Thomas J 
Published: September 2006

Abstract
Identical twins reared apart constitute two individuals with the same genetic constitution (genotype) reared in two different environments. The study of a series of such twins allows us to estimate the influence of genetic and environmental factors on measured characteristics (phenotypes) of the twins. Studies of twins reared apart have consistently confirmed the findings of studies of twins reared together, which have demonstrated moderate genetic influence on virtually all reliably measured psychological traits.
Ion Channels and Human Disorders
Authors: Davies Nicholas P , Eunson Louise H , Hanna Michael G 
Published: September 2006

AbstractThe human channelopathies are a rapidly expanding group of mainly genetic conditions characterized by dysfunction of membrane‐bound glycoproteins (ion channels). Several neurological and general medical disorders have been shown to be due to underlying ion channel dysfunction. DNA‐based diagnosis is now available for many of these disorders.
Human Leukocyte Antigen (
HLA
) System and Human Disorders
Authors: Rhodes David A 
Published: September 2006

Abstract
The major histocompatibility complex has been studied in depth because it is associated with more human disorders than any other region of comparable size in the human genome. In addition to the human leukocyte antigen (HLA) genes, the MHC contains a diverse array of polymorphic genes, many of which are involved in modulating the immune response to pathogens.
Human Genome Project, HUGO and Future Health Care
Authors: van Ommen Gert‐Jan B 
Published: September 2006

Abstract
The Human Genome Project and the publication of the human genome sequence have opened the possibility of an entirely new approach to healthcare, based on the genotype of the individual. However, this approach is fraught with ethical problems, among them the risk of widening the gap between haves and have‐nots both globally and within any one country.
Informed Consent
Authors: Knoppers Bartha M , Avard Denise 
Published: September 2006

Abstract
New advances in genetic testing for health and medical purposes raise new concerns, including the predictive value of the genetic information, the disclosure of the results of genetic tests to individuals and families, and the issues of storage and future use of genetic information and ownership. In order to protect the interests of patients, individuals and communities, policy responses are needed.
Disability: Diagnostic Labeling
Authors: Watson Nick 
Published: September 2006

Abstract
Diagnostic labeling of people as ‘disabled’ can affect the individual's sense of identity and self. The values that the rest of society attaches to such labels need to be challenged. Many diagnostic labels referring to disability are applied by medical professionals, but it is their impact on the disabled person as they interact with other people in their lifeworld that are of central concern. Being labeled as a disabled person or as one who has an impairment can affect relationships both with those in one's immediate circle of acquaintances, such as those in domestic or work environments, and with those who are met in more casual relationships.
Genetics and the Control of Human Reproduction
Authors: Gosden Christine M 
Published: September 2006

Abstract

Advances in infertility treatments, assisted conception and genetics include fertilization
in vitro
, microinjection of sperm into eggs, use of donor gametes and cloning. These technological advances have raised moral, ethical and human rights issues about the regulation of embryo research, reproductive and therapeutic cloning, and stem cell and infertility treatment, in the context of national and international legislation.
In Vitro
Fertilization
Authors: Boivin Jacky 
Published: September 2006

Abstract

In vitro
fertilization in combination with preimplantation genetic diagnosis (IVF‐PGD) is a technique that helps couples avoid transmitting a genetic disorder to their offspring. Couples using IVF‐PGD react to treatment and subsequent pregnancy and parenthood as do couples using IVF for fertility problems.
Preimplantation Genetic Diagnosis: Ethical Aspects
Authors: Munthe Christian 
Published: September 2006

AbstractIn preimplantation genetic diagnosis, genetic traits of embryos are detected before the initiation of pregnancy. Although tampering with embryos is morally controversial, this procedure may seem to reduce ethical problems in prenatal diagnosis by offering the possibility of selecting offspring, on the basis of genetic information, more efficiently and without any need to consider abortion. However, counseling of patients becomes more complicated, and the procedure may seem to make the outside influence of their decisions easier to both achieve and justify. As a consequence, preimplantation genetic diagnosis raises concerns about the connection between the preselection of children on genetic grounds and the discrimination of disabled people. Moreover, it introduces the new ethical problem of whether or not the selection of future children on the basis of nonpathological traits should be acceptable practice.
Schizophrenia and Bipolar Disorder: Linkage on Chromosomes 5 and 11
Authors: Maziade Michel , Palmour Roberta , Phaneuf Daniel , Mérette Chantal , Roy Marc‐André 
Published: September 2006

AbstractTwo premature claims of linkage on chromosomes 5 and 11 for schizophrenia (SZ) and bipolar affective disorder (BP) were reported inNaturein the late 1980s. Although the findings failed to be replicated, accumulated knowledge from the results of the first generation of molecular genetic studies of SZ and BP sets the basis for a promising second generation of studies.
Genetic Isolates and Behavioral Gene Searches
Authors: Pato Carlos N , Schindler Kim M , Pato Michele T 
Published: September 2006

Abstract
Genetically isolated populations, created via physical isolation, founder effect and ethnic inbreeding, help to create relatively more homogeneous study populations. In the study of disorders of multifactorial and multiple gene effects, use of such populations should allow for enhanced identification of susceptibility genes by limiting genetic heterogeneity.
Anticipation
Authors: O'Donovan Michael 
Published: September 2006

Abstract
The phenotype of many inherited disorders tends to become progressively more severe and/or be expressed at a younger age as it is transmitted to successive generations of a pedigree. This phenomenon is called anticipation and has been reported to occur widely in the principal functional psychoses (schizophrenia and bipolar disorder), although it is possible that these findings are attributable to sampling biases.
Alcoholism and Drug Addictions
Authors: Prescott Carol A 
Published: September 2006

Abstract
Evidence from family, twin and adoption studies indicates that genetic variation contributes to individual differences in risk for addiction to alcohol, tobacco and illicit drugs, and may contribute to comorbidity of addictions with other psychiatric disorders. Molecular genetic studies with animals and humans are helping to identify specific genes involved in drug‐seeking behavior, which may improve understanding of the etiology of addictions and lead to new pharmacological treatments.
Electroencephalogram (EEG) and Evoked Potentials
Authors: Stassen Hans H 
Published: September 2006

Abstract
Analysis of the basic properties of brain waves and evoked potentials allows one to decompose the information contained in the electroencephalogram into a genetically determined static component and a dynamic component that reflect interactions with and reactions to the immediate environment. This approach is useful for the definition of endophenotypes and for studying the dynamic properties of brain waves.
Twin Studies
Authors: Trumbetta Susan L 
Published: September 2006

Abstract
Twin studies that compare monozygotic with dizygotic twin pairs for their level of phenotypic similarity have long provided useful estimates of the relative influences of genetic and environmental factors on phenotypic variability in the population. Variations on the classic twin study, such as twins reared apart, co‐twin control and children‐of‐twins designs, may provide additional clues to the effects of specific environments and of gene‐by‐environment interactions in the expression of certain phenotypes.
Personality and Temperament
Authors: Nigg Joel T , Goldsmith H Hill 
Published: September 2006

Abstract
Temperament is an early‐developing set of characteristics related to later personality. Personality includes a range of traits, including major traits of extraversion, neuroticism and impulsivity/sensation‐seeking. Both behavioral genetic (twin and adoption) and molecular genetic research (emphasizing dopamine‐ and serotonin‐related genes) have contributed to the understanding of major traits of temperament and personality.
BLAST Algorithm
Authors: Altschul Stephen F 
Published: September 2006

Abstract
BLAST is an acronym for basic local alignment search tool; the BLAST family of database search programs takes as input a query DNA or protein sequence, and search DNA or protein sequence databases for similarities that may indicate homology. The programs implement variations of the BLAST algorithm, which is a heuristic method for rapidly finding local alignments with scores sufficiently high to be statistically significant.
Similarity Search
Authors: Pearson William R 
Published: September 2006

Abstract
Protein and DNA similarity searches are used to find sequences that are likely to be homologous. Homologous sequences diverged from a common ancestor; when two sequences share statistically significant similarity (much more than would be expected by chance), the most parsimonious explanation for the excess similarity is homology. The most effective similarity searches use protein or translated‐DNA : protein comparisons.
Protein Homology Modeling
Authors: Peitsch Manuel C , Schwede Torsten , Diemand Alexander , Guex Nicolas 
Published: September 2006

Abstract
Protein homology modeling is the prediction of the three‐dimensional structure of proteins by comparative methods that use the known three‐dimensional structure of related proteins. This method will play a major role in the functional analysis of the genes (and their protein transcripts) discovered in fully sequenced genomes.
RNA Tertiary Structure Prediction: Computational Techniques
Authors: Major François , Gendron Patrick 
Published: September 2006

Abstract
Ribonucleic acid (RNA) tertiary structure prediction is an activity that consists of inferring complete sets of atomic coordinates of RNAs, in Euclidean space, on the basis of observation, knowledge or construct. The principal goal of prediction is to obtain precise RNA tertiary structures and, thus, to reduce the costs of the discovery process by offering to scientists new possibilities to design efficient pinpoint experiments to decipher RNA function.
Transcription Factors
Authors: Latchman David S 
Published: September 2006

Abstract
Transcription factors are regulatory proteins that can increase or decrease the transcription of a particular gene from deoxyribonucleic acid into the corresponding ribonucleic acid. They play a key role in embryonic development, the creation and maintenance of cell type‐ and tissue‐specific patterns of protein synthesis and the response to cellular signaling pathways.
Gene Expression Networks
Authors: Rockett John C , Dix David J 
Published: September 2006

Abstract
‘Gene expression network’ is the term used to describe the interplay, simple or complex, between two or more gene products in performing a specific cellular function. Although the delineation of such networks is complicated by the existence of multiple and subtle types of interaction between gene products, the use of high‐throughput functional genomics techniques and mathematical modeling provides a powerful approach to deciphering expression networks and revealing the molecular mechanisms of cell growth and function.
Telomeres: Protection and Maintenance
Authors: de Lange Titia 
Published: September 2006

Abstract
Eukaryotic chromosomes terminate in telomeres, nucleoprotein complexes thought to mask chromosome ends from the machinery that detects and repairs damaged deoxyribonucleic acid (DNA). The maintenance of this protective telomeric cap requires a specialized mode of DNA synthesis, because chromosome duplication results in incomplete replication of DNA ends. Proteins associated with the telomeric DNA sequence at chromosome ends execute and regulate the maintenance and protection functions of telomeres.
Ectopic Transcription
Authors: Berg Lutz‐Peter 
Published: September 2006

Abstract
Ectopic (or illegitimate) transcription is the very low level of transcription of ‘tissue‐specific’ genes in cell types lacking obvious requirement for the gene product. Thought to be produced by every gene in every cell type, ectopic transcripts isolated from patient blood are useful for gene mutation studies if the main expressing tissue of a disease gene is inaccessible.