bluuebunny/crossref_metadata_2025_split huggingface dataset:
Alternative Promoter Usage
Authors: Ayoubi Torik 
Published: September 2006

Abstract
A major level at which gene expression is controlled is at the level of transcription initiation. The earlier view that transcription initiation occurs at a single site for every gene is no longer valid as many genes have more than one site of transcription initiation and, therefore, more than one promoter. The use of alternative promoters is a versatile mechanism for creating diversity and flexibility in the regulation of gene expression.
Posttranscriptional Processing
Authors: Hodges Angela Kaye 
Published: September 2006

AbstractMessenger ribonucleic acid (mRNA) is an intermediate template in the process of protein production from a deoxyribonucleic acid (DNA) template. It offers the cell the means to control the production and destination of proteins in a complex, timely and transient way, and increases greatly the potential variation of protein isoforms. The number of molecules of any one mRNA species in a mammalian cell can vary from less than 1 to as many as 10000. In human cells, an average of about six copies of each mRNA are present per cell.
Developmental Psychopathology
Authors: DiLalla Lisabeth F , Caraway Rebecca 
Published: September 2006

Abstract
Psychopathology, or mental illness, can be studied developmentally by examining changes in the illness over time as well as childhood predictors of illness. Longitudinal family studies have yielded information about childhood predictors of schizophrenia and mood disorders by identifying high‐risk children of mentally ill parents prior to the diagnosis of illness in the children.
Alcoholism: Collaborative Study on the Genetics of Alcoholism (COGA)
Authors: Rice John P , Saccone Nancy L , Foroud Tatiana , Edenberg Howard J , Nurnberger John I , Goate Alison , Crowe Raymond R , Hesselbrock Victor , Schuckit Marc , Porjesz Bernice , Reich Theodore , Begleiter Henri 
Published: September 2006

AbstractTwin, adoption and family studies provide evidence for a genetic component for the susceptibility to alcoholism. The Collaborative Study on the Genetics of Alcoholism (COGA) is a comprehensive family study aimed at identifying specific genetic risk factors.
Orthologs, Paralogs and Xenologs in Human and Other Genomes
Authors: Olendzenski Lorraine , Zhaxybayeva Olga , Gogarten Peter 
Published: September 2006

Abstract
Homologous genes share a common evolutionary ancestor and can be orthologs (derived from speciation events), paralogs (derived from gene duplication events) or xenologs (derived from horizontal transfer or lineage fusion). Comparative analysis of the human genome indicates high levels of recent and ancient duplication at the level of nucleotides, genes and chromosome segments, and only very few, if any, examples of recent transfer from bacteria.
Spliceosome
Authors: Pomeranz Krummel Daniel A , Nagai Kiyoshi 
Published: September 2006

Abstract
The removal of introns and the splicing together of the protein‐coding regions or exons from precursor messenger RNA (pre‐mRNA) transcripts is fundamental to the development and maintenance of human cells. The nuclear process of pre‐mRNA splicing is a complex phenomenon catalyzed by the ‘spliceosome’, which comprises more than 100 hundred protein and RNA molecules that come on and off during its assembly and activity.
Short Interspersed Elements (SINEs)
Authors: Schmid Carl W , Rubin Carol M 
Published: September 2006

AbstractShort interspersed elements (SINEs) are highly repetitive sequences that retrotranspose into eukaryotic DNA through intermediates transcribed by RNA polymerase III (pol III). In many species, SINEs are a ubiquitously dispersed feature of the whole genome, often constituting a significant (∼10%) mass fraction of total DNA. SINEs cause mutations both by their retrotransposition within genes and by unequal recombination, and are widely considered to be examples of ‘selfish’ or ‘parasitic’ DNA.
Genomic DNA: Purification
Authors: Tümmler Burkhard , Mekus Frauke 
Published: September 2006

Abstract
Genomic DNA can be prepared from any source by three steps: cell lysis, deproteinization and recovery of DNA. The basic protocol needs to be adapted to the demands of the application, the requested yield, purity and molecular weight of the DNA, and the amount and history of the source.
Capillary Electrophoresis
Authors: Righetti Pier Giorgio 
Published: September 2006

Abstract

Capillary zone electrophoresis is a fully automated approach to electrophoresis that uses narrow‐bore (10–100 μm) fused‐silica capillaries as a separation chamber and online detection of analytes. The increased heat dissipation allows the delivery of high field strengths (100–500 V cm
−1
). The use of minute sample amounts and volumes and the very fast analysis times make it an attractive technique in modern bioanalysis.
Polymerase Chain Reaction (PCR): Design and Optimization of Reactions
Authors: White Bruce A 
Published: September 2006

AbstractOptimization of the polymerase chain reaction (PCR) includes the consideration of buffer, additives, magnesium chloride, deoxynucleotides, primer design, thermostable DNA polymerase, DNA template, reaction volume, denaturation time, annealing temperature and extension time. Nonspecific products can be further minimized by using a ‘hot start’ and a variable annealing temperature (touchdown PCR).
Whole‐genome Amplification
Authors: Wells Dagan 
Published: September 2006

Abstract
Whole‐genome amplification (WGA) techniques utilize the principles of the polymerase chain reaction (PCR) to copy enzymatically the deoxyribonucleic acid (DNA) contained within a sample. However, unlike most PCR applications, the amplification is nonspecific and theoretically provides an increase in the copy number of all genomic sequences. WGA is used in areas of research where minute DNA samples are routinely encountered. Applications include preimplantation genetic diagnosis, the creation of probes from microdissected or flow‐sorted chromosomes, forensics and the study of ancient DNA samples.
Yeast Artificial Chromosome (YAC) Clones
Authors: Nagaraja Ramaiah , Schlessinger David 
Published: September 2006

Abstract
Artificial chromosome vector systems have facilitated mapping and sequencing of complex genomes at an increasingly rapid pace. They include cloned DNA fragments ranging from 50 kb to more than 1 million base pairs, as well as sequences that render them capable of growth in yeast or bacteria. Traditional bacterial cloning systems have remained important for the study of relatively short clones, but for the cloning of very large DNA segments artificial chromosomes have completely replaced earlier bacterial systems, including lambda phage‐based cosmids.
Caenorhabditis elegansGenome Project
Authors: Coulson Alan , Lawson Daniel 
Published: September 2006

AbstractThe sequence of the 100‐Mb genome of the nematodeCaenorhabditis elegans, the first sequence of a multicellular organism, was published in 1998. The methodologies and strategies developed for the worm project, as well as the philosophy of continuous and immediate data release, have carried through to the Human Genome Project (HGP).
Genetic Maps: Integration
Authors: Collins Andrew 
Published: September 2006

Abstract
Genetic maps describe the order of polymorphisms along a chromosome; however, unlike physical maps, the map distances are related to recombination. The level of recombination varies with position along the chromosome and between the sexes. It is important to integrate genetic and physical or sequence‐based maps to identify regions of elevated or reduced recombination. The presence of recombination hot and cold spots has a bearing on efforts to map disease genes and for the understanding of the biological properties of chromosome location.
Disease Associations: Human Leukocyte Antigen (HLA) and Apolipoprotein E (APOE) Gene
Authors: van Duijn Cornelia M 
Published: September 2006

Abstract
The developments of the Human Genome Project have fueled expectations with regard to the potential of associating variations in genes to the risk of common complex diseases. Despite the many problems encountered, the examples of the HLA complex and the apolipoprotein E gene show the usefulness of this approach.
Mutations: Dating
Authors: Colombo Roberto 
Published: September 2006

Abstract
The age of a mutation can be estimated from the decay of linkage disequilibrium with flanking or intragenic polymorphisms because of recombination and mutation and from the frequency of the mutation itself as a consequence of genetic drift. Several methods have been proposed, and the results from their applications can be combined with population data to provide a critical view of the origin and natural history of the mutation.
Beyond the Genome
Authors: Stent Gunther S 
Published: September 2006

Abstract
Beyond the genome lies the phenome, which term denotes the global – partly impressionistic – set of traits according to which biologists categorize an organism as a member of one particular taxonomic entity rather than of another. Although there does exist a causal ontogenetic relation between genome and phenome, it is not the case that an organism's genome can be usefully considered as a one‐dimensional representation of its multidimensional phenome.
Genetic Disorders
Authors: Langenbeck Ulrich 
Published: September 2006

Abstract
Genetic disorders afflict between 1% and 4% of the newborn population, and the contribution of genes to public health problems rises considerably above this level in adults. Mutations are due to disruption of, or interference with, functional/structural networks of genes, ribonucleic acids and proteins. The identification of disease genes and pathogenetic mechanisms in genetic diseases is a goal of genetic medicine.
Dominance and Recessivity
Authors: Wilkie Andrew OM 
Published: September 2006

Abstract
Dominance and recessivity are not intrinsic properties of genes or alleles but describe, in diploid organisms, the pattern of occurrence of a phenotypic trait with respect to the possible combinations of two alleles. If the trait is present in the heterozygote, it is said to be dominant or semidominant, and if it is present only in one of the homozygotes, it is recessive.
Mosaicism
Authors: Hall Judith G 
Published: September 2006

Abstract
Mosaicism refers to the presence of genetically different cells in a multicellular organism that have been derived from a single fertilized egg. The genetic change can take many forms and occur through many mechanisms. The clinical manifestations of mosaicism may be reflected in patchy or streaky pigment, overgrowth or undergrowth, and asymmetric growth or anomalies. When considering mosaicism, it is important to study other tissues in addition to blood.
X‐chromosome Inactivation and Disease
Authors: Lyon Mary F 
Published: September 2006

Abstract
X‐chromosome inactivation is the phenomenon in which one of the two X chromosomes in every somatic cell of female mammals becomes transcriptionally inactive early in embryonic development. This has the result of equalizing the effective gene dosage of X‐linked genes in chromosomally XX females and XY males, and is hence known as a dosage compensation mechanism. In humans, X‐chromosome inactivation has implications for the effects seen in diseases due either to X‐linked genes or to numerical or structural anomalies of the X chromosome.
Ethnicity and Disease
Authors: Peltonen Leena 
Published: September 2006

Abstract
Features such as migration waves, regional founder effects, several bottlenecks (caused by wars, famine, catastrophes of nature) and expansion periods in the global populations, along with sometimes dramatic isolation (caused by geographical, linguistic or cultural factors) of different populations, have molded the human gene pool and resulted in genetic differences between world populations. Also the prevalence of various diseases and disease mutations greatly varies within different populations, and a substantial amount of our understanding of the history of various population‐specific differences has actually emerged from the studies of genetic diseases in different populations.
G‐protein‐mediated Signal Transduction and Human Disorders
Authors: Spiegel Allen M 
Published: September 2006

Abstract
Heterotrimeric G proteins couple to seven‐transmembrane receptors, producing diverse signals to effectors that generate intracellular signals. Loss‐ and gain‐of‐function mutations in genes encoding G‐protein‐coupled receptors and the α subunit of heterotrimeric G proteins have been increasingly recognized as causes of human disease.
Intersex Disorders
Authors: Sarafoglou Kyriakie 
Published: September 2006

Abstract
Human intersex conditions arise during the complex developmental processes of sexual determination and differentiation resulting in discordance between genetic sex, gonadal sex and sexual phenotype. In humans and other mammals, a regulatory cascade of sex‐linked and autosomal genes determines sex. Contingent on the gene mutation, a remarkable range of possible phenotypes are seen, including sex‐reversed females and sex‐reversed males.
Craniofacial Abnormalities: Molecular Basis
Authors: Müller Ulrich 
Published: September 2006

Abstract
Monogenic abnormalities of skull differentiation can be grouped into three categories: disorders of cranial ossification (craniosynostosis, foramina parietalia), of midface development (holoprosencephaly, cleft lip and palate) and of differentiation of the first and second branchial arches (branchio‐oto‐renal dysplasia and Treacher–Collins). Many of the genes identified in these groups code for transcription factors and signaling proteins.
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
Authors: Passarge Eberhard 
Published: September 2006

Abstract
The gastrointestinal (GI) tract is involved in numerous genetic disorders, either isolated or as part of a multisystemic disease. Relatively few genes have been identified that play a role in the development and function of the GI tract, but the molecular basis of Hirschsprung disease, a complex, heterogeneous disorder, resulting from absence of the intramural intestinal ganglion cells due to failure of migration from the neural crest during embryonic development, has been elucidated.
Prader–Willi Syndrome and Angelman Syndrome
Authors: Horsthemke Bernhard 
Published: September 2006

Abstract
The Prader–Willi and Angelman syndromes are distinct neurogenetic syndromes that are caused by the loss of function of imprinted genes on human chromosome 15. Genetic defects include deletions, uniparental disomy, imprinting defects and single‐gene mutations.
Neurofibromatosis: Type I
Authors: Viskochil David 
Published: September 2006

Abstract
Neurofibromatosis type I (NF1) is a common, autosomal dominant condition that manifests as multiple café‐au‐lait spots, peripheral nerve sheath tumors, optic nerve pathway tumors, orthopedic abnormalities and learning disabilities. The gene for NF1 encodes neurofibromin, a large protein that downregulates intracellular Ras signaling.
Mitochondrial Disorders: Nuclear Gene Mutations
Authors: Zeviani Massimo 
Published: September 2006

Abstract
In addition to mutations of mitochondrial DNA, many mitochondrial syndromes are due to abnormalities in nuclear genes related to oxidative phosphorylation (OXPHOS). Nuclear genes encode hundreds of proteins involved in mitochondrial OXPHOS. Nevertheless, the identification of these genes has proceeded at a much slower pace, compared with the discovery and characterization of mitochondrial DNA mutations. This scenario is rapidly changing because of the discovery of several OXPHOS‐related human genes and the identification of mutations responsible for different clinical syndromes.
Monosomies
Authors: Fryns Jean‐Pierre , Lukusa Tshilobo Prosper 
Published: September 2006

Abstract
Errors in meiosis result in gametes with abnormal numbers of chromosomes and production, after fertilization, of an aneuploid conceptus. The genetic imbalance resulting from the loss of an entire chromosome in individuals with deletion‐type aneuploidy is generally lethal, except for the full X chromosome monosomy. Most survivable partial monosomies are associated with significant dysmorphism and mental retardation.
Cancer: Chromosomal Abnormalities
Authors: Mitelman Felix 
Published: September 2006

Abstract
Cancer cells are characterized by acquired, specific chromosome abnormalities, often balanced structural aberrations. At the molecular level, the balanced rearrangements exert their action through one of two alternative mechanisms: deregulation of one gene by relocation to an immunoglobulin gene or T‐cell receptor gene, or the creation of a hybrid gene by fusion of parts of two genes. The genetic abnormalities have important diagnostic and prognostic implications.
Environmental Mutagenesis
Authors: Parry James M , Parry Elizabeth M 
Published: September 2006

Abstract
Environmental mutagenesis is the study of induced mutation above the background or spontaneous rate (characteristic of any particular organism) produced by exposure to mutagens identified in materials ranging from foods to pharmaceutical drugs. Environmental mutagenesis involves the study of the mechanisms by which chemicals induce mutation and the development of test methods and regulatory procedures to identify and control environmental mutagens since such agents may be of major concern to public health.
Digenic Inheritance
Authors: Vockley Jerry 
Published: September 2006

Abstract
Monogenic inheritance refers to genetic control of a phenotype or trait by a single gene. Many traits are not determined so simply, and either involve the interaction of many genes with (multifactorial inheritance) or without (polygenic inheritance) environmental effects. Less commonly, the interaction of only two genes is required for expression of a phenotype, a mechanism referred to as digenic inheritance.
Preimplantation Diagnosis
Authors: Anver Kuliev , Yury Verlinsky 
Published: September 2006

Abstract
Preimplantation diagnosis is testing for a causative gene before pregnancy, allowing the preselection of unaffected embryos before implantation into the uterus. It has currently become an alternative to prenatal diagnosis, providing an option for at‐risk couples to have unaffected children of their own without facing the risk of a pregnancy termination after prenatal diagnosis.
Drosophila
as a Model for Human Diseases
Authors: Reiter Lawrence T 
Published: September 2006

Abstract

The fruit fly
Drosophila melanogaster
is a powerful genetic model organism that can be easily manipulated. Advanced tools have been constructed in
Drosophila
for disruption of genes (both somatic and germ line) as well as misexpression of endogenous and foreign transgenes. A high degree of similarity between these two proteomes suggests that as many as 74% of human disease‐causing genes could be studied in a
Drosophila
model.
Zebrafish as a Model for Human Diseases
Authors: Fraenkel Paula Goodman , Zon Leonard I 
Published: September 2006

AbstractZebrafish (Danio rerio) are small freshwater fish, the only vertebrate model in which a large‐scale mutagenesis strategy has been undertaken as an approach to the study of the development of blood and vital organs. The development of techniques for gene mapping in zebra fish and the anticipated completion of the zebra fish genome sequencing project in 2002 will enhance the use of zebra fish as models for human diseases.
Mammalian Artificial Chromosomes (MACs)
Authors: Farr Christine J , Spence Jennifer M 
Published: September 2006

Abstract

By analogy with yeast artificial chromosomes, a mammalian artificial chromosome (MAC) would be a molecule of defined structure comprising combinations of various cloned or synthesized chromosomal elements that had been individually manipulated, tested and optimized as part of a controlled construction process.
De novo
human chromosomes have been produced through cell‐mediated assembly processes and these, together with minichromosomes generated by manipulating existing chromosomes, are providing the basis for developing the first MAC‐based vectors for use in vertebrate cells.
In Vitro
Mutagenesis
Authors: Bowen Derrick John 
Published: September 2006

Abstract

In vitro
mutagenesis allows a nucleic acid sequence (and hence an encoded protein sequence) to be altered either randomly or in a predefined way. Its principal applications are the investigation of nucleic acid or protein structure/function, the investigation of cellular pathways (for example, biochemical or signaling) and gene therapy.
Expression Analysis
In Vivo
: Cell Systems
Authors: Dirks Roeland W , Molenaar Chris , Tanke Hans J 
Published: September 2006

Abstract
Gene expression involves 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.
Fusion Proteins as Research Tools
Authors: Dorsman Josephine C 
Published: September 2006

Abstract
Fusion proteins encompass a protein or small peptide moiety which is used as a tag, fused to another protein of interest. Fusion proteins are used in biochemical and in genetic (high‐throughput) applications and are especially suited to study protein–protein interactions, even on a genome‐wide scale, and for the generation of antibodies.
Genomic Imprinting at the Transcriptional Level
Authors: Constância Miguel , Murrell Adele , Reik Wolf 
Published: September 2006

AbstractGenomic imprinting is an epigenetic mechanism of gene regulation that results in the expression of only one allele at a locus, dependent on the parental origin of the allele. These parent‐of‐origin effects are exerted largely at the level of transcription and are brought about by epigenetic imprints laid down in the parental germ cells. Gene regulation by genomic imprinting affects (a minority of) mammalian loci that have crucial developmental roles. Aberrant imprinted gene regulation is the cause of various disease syndromes.
Protein Isoforms and Isozymes
Authors: Gunning Peter William 
Published: September 2006

Abstract
Isoforms are highly related gene products that perform essentially the same biological function. Isozymes are isoforms of an enzyme. Isoforms can differ in their biological activity, regulatory properties, temporal and spatial expression, intracellular location or any combination thereof. Isoforms are almost always either the products of one gene or of multiple genes that evolved from a single ancestor gene.
Protein Characterization: Analytical Approaches and Applications to Proteomics
Authors: Gevaert Kris , Vandekerckhove Joël 
Published: September 2006

AbstractEdman chemical sequencing and biological mass spectrometry are used routinely to identify and to characterize proteins. Two‐dimensional polyacrylamide gel electrophoresis, highly sensitive mass spectrometry and sequence database searching algorithms have merged to form proteomics – the analysis of the protein complement of the genome.
Array‐based Proteomics
Authors: Walter Gerald , Büssow Konrad , Konthur Zoltan , Lueking Angelika , Glökler Jörn , Schneider Ulrich 
Published: September 2006

Abstract
Array technology enables genome‐wide screening for protein expression and interactions at high throughput. Protein microarrays are emerging as a major technology platform for functional genomics.