bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rett Syndrome
Authors: Bradbury Margaret K , Hoffbuhr Kristen C , Hoffman Eric P 
Published: October 2007

Abstract
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.
Adeno‐associated Viral Vectors in Gene Therapy
Authors: Zhong Li , Srivastava Arun 
Published: October 2007

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 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

Abstract
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

Abstract
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.
Chromosomes in Mammals: Diversity and Evolution
Authors: Wienberg Johannes , Müller Ludwig Stefan 
Published: October 2007

Abstract
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 2
Authors: Vlangos Christopher N , Hildebrandt Friedhelm 
Published: October 2007

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 κ light chain.
Chromosome 21
Authors: Yahya‐Graison Emilie Ait , Delabar Jean Maurice 
Published: October 2007

AbstractHuman 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.
Creationism
Authors: Ruse Michael 
Published: October 2007

AbstractCreationism 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’.
Malthus, Darwin, and Social Darwinism
Authors: Bowler Peter J 
Published: October 2007

Abstract
Darwin's theory of natural selection was inspired in part by T. R. Malthus's principle of population expansion. This was linked to the ideology of free‐enterprise individualism, leading to claims that Darwin's theory reflected a similar ideology. Darwinism was certainly used to justify competitive social policies, but the relationship between science and ideology requires careful analysis.
Autonomy and Responsibility in Reproductive Genetics
Authors: Hellsten Sirkku K 
Published: October 2007

Abstract
The principle of respecting individual autonomy has traditionally been the most powerful of the four conventional principles of Western bioethics (the others being beneficence, benevolence and justice). It is rarely trumped by other ethical considerations such as an individual's personal responsibility, collective duties, or even by the utilitarian maximization of the overall happiness or utility of a society.
Apolipoprotein Gene Structure and Function
Authors: Uelmen Huey Patricia , Chang Benny , Chan Lawrence 
Published: October 2007

AbstractApolipoproteins are the protein components of lipoproteins, the lipid–protein complexes responsible for transporting lipids in the blood. They may have additional specialized functions that are encoded by their genes. This review summarizes the current knowledge on gene and protein structure and the function of this rather complex group of proteins.
Addiction and Genes: Animal Models
Authors: Phillips Tamara J 
Published: October 2007

AbstractGene products (i.e. proteins that may be enzymes, receptors, hormones, etc.) influence susceptibility to alcoholism, drug abuse and other addictions. Progress in gene discovery has been fueled by the Human Genome Project, and by utilization of classical (e.g. standard inbred strains, selected lines) and new‐era genetic models and techniques (e.g. transgenics, microarray analyses). The ultimate goal is to identify the genes of importance to addiction and to define their interactions with other genes and with environmental influences.
Cytogenetic and Physical Chromosomal Maps: Integration
Authors: Kirsch Ilan R , Ried Thomas 
Published: October 2007

Abstract

It is now possible to link a cytogenetic location directly with the sequence of the human genome. This is accomplished by using a toolset consisting of high‐resolution fluorescent
in situ
hybridization‐mapped and sequenced bacterial artificial chromosome clones distributed at 1–2 Mb intervals across the genome. This toolset is available from a commercial repository and is searchable in publicly available databases cross‐referenced to extant information on cancer‐associated chromosomal aberrations.
m
RNA
Stability and the Control of Gene Expression
Authors: Ji Xinjun , Liebhaber Stephen A 
Published: October 2007

Abstract
Messenger ribonucleic acid (mRNA) stability is a principal determinant of gene expression; intrinsic stabilities of mammalian mRNAs can differ by more than 100‐fold, and the stability of an mRNA species can be altered markedly by developmental, cell cycle and environmental stimuli. The determinants of mRNA stability and the pathways by which they function are diverse and are represented by a spectrum of informative model systems.
Oncogenic Kinases in Cancer
Authors: Tsatsanis Christos , Zafiropoulos Alexandros , Spandidos Demetrios A 
Published: October 2007

AbstractOncogenesis involves the generation and transmission of signals that result in deregulation of cell proliferation, inhibition of apoptosis and morphological changes. Transmembrane or cytoplasmic tyrosine and serine/threonine kinases participate both directly and indirectly in cell transformation and tumorigenesis.
Insights into the Molecular Basis of Kallman Syndrome
Authors: Hu Youli , Kim Soo‐Hyun , Cadman Steven Mark , Bouloux Pierre‐Marc 
Published: October 2007

Abstract

Kallmann syndrome (KS) consists of anosmia related to defective olfactory bulb development and hypogonadotrophic hypogonadism due to gonadotrophin‐releasing hormone (GnRH) deficiency. Two genes have been identified so far:
KAL‐1
, encoding anosmin‐1, and
KAL‐2
,encoding fibroblast growth factor receptor 1 (FGFR1).
Longevity: Genetics
Authors: Cournil Amandine 
Published: October 2007

Abstract
The longevity of a species refers to its maximum potential length of life. Longevity at the individual level can be regarded as an outcome of the aging process, which is both genetically and environmentally determined. Genetic studies of longevity primarily focus on the genetic variation of life span and on the genetics of exceptionally long life in human populations.
Dosage Compensation Mechanisms: Evolution
Authors: Marín Ignacio 
Published: October 2007

Abstract

Degeneration of sex‐limited chromosomes generates the need for dosage compensation mechanisms able to equalize in both sexes the amount of products derived from sex‐linked genes. Evolution of these mechanisms is understood in some detail in the fly
Drosophila melanogaster
, the nematode
Caenorhabditis elegans
and in eutherian mammals.
Mitochondrial Non‐Mendelian Inheritance: Evolutionary Origin and Consequences
Authors: Birky C William 
Published: October 2007

Abstract
Alleles of mitochondrial genes segregate during vegetative (mitotic) divisions as a consequence of the random manner in which mitochondrial genomes are replicated and partitioned at cell division. This is probably an evolutionary relic of their endosymbiotic origin. Uniparental inheritance of mitochondrial genes in humans is a result of oogamy and degradation of paternal mitochondria in the egg, but different mechanisms have evolved in other organisms.
Major Histocompatibility Complex (MHC) Genes: Polymorphism
Authors: Meyer Diogo , Mack Steven J 
Published: October 2007

AbstractThe major histocompatibility complex (MHC) contains genes that code for glycoproteins which play a key role in the immune response. Several features of MHC gene polymorphism indicate that diversifying natural selection has acted upon these genes. Different models of diversifying selection may explain the observed variation.
Fibroblast Growth Factors: Evolution
Authors: Ornitz David M 
Published: October 2007

Abstract
Fibroblast growth factors (FGFs) and their receptors constitute a signaling system conserved throughout animal evolution. Most members of the FGF family signal across adjacent tissue boundaries and are essential for a variety of developmental and physiologic processes. A subfamily of vertebrate FGFs that may have originated in primitive chordates appears to have evolved novel functions within neurons.
Imprinting: Evolution
Authors: Spencer Hamish G 
Published: October 2007

AbstractGenomic imprinting, the differential expression of maternally and paternally derived genes, diminishes the ability to mask the deleterious effects of recessive mutations, one of the major advantages of diploidy. Nevertheless, imprinting has evolved at roughly 40 mammalian loci, and several hypotheses have been proposed to explain how the apparent disadvantage of imprinting has been overcome.
Drug Metabolism: Evolution
Authors: Nebert Daniel W 
Published: October 2007

Abstract
Advances in molecular biology and genetics have given us a much better understanding of the evolution of drug metabolism. Genes encoding drug‐metabolizing enzymes, as well as some drug receptors and transporters, have functioned in many signal transduction pathways in bacteria and yeast and, more recently, in countless critical life processes in plants and animals – events that emerged millions of years before the establishment of pharmaceutical companies and drug stores.
X‐linked Genes for General Cognitive Abilities
Authors: Kehrer‐Sawatzki Hildegard , Steinbach Peter , Hameister Horst 
Published: October 2007

Abstract
More than 200 syndromic and nonsyndromic disorders associated with X‐linked mental retardation are known, and the gene responsible for the condition has been identified in many cases. The phenotypic effects of known MRX genes, and their obvious overrepresentation on the X chromosome, suggest that they played an important role during human speciation.
Cryogenic Detectors: Detection of Single Molecules
Authors: Twerenbold Damian 
Published: October 2007

Abstract
To extend the technique of mass spectrometry for analyzing large protein complexes, more sensitive detectors are required. Cryogenic detectors operate by measuring the energy deposition of a single molecule. Their detection sensitivity is independent of mass, and both the arrival time and energy of an individual molecule are measured in a MALDI‐TOF mass spectrometer.
Proteomics and Genomics Technology: Comparison in Heart Failure and Apoptosis
Authors: Nosworthy Neil J , Tsubakihara Masako , dos Remedios Cristobal G 
Published: October 2007

Abstract
Recent developments in microarray technology in determining the protein and gene content of cellular extracts will allow, on a much larger scale, the characterization of genes and proteins that change due to heart failure.
Noonan Syndrome
Authors: Tartaglia Marco , Gelb Bruce D 
Published: October 2007

Abstract

Noonan syndrome is a genetic disorder inherited as an autosomal trait or occurring sporadically, characterized by short stature, dysmorphic facies, webbed neck, congenital heart disease or hypertrophic cardiomyopathy, skeletal anomalies, cryptorchidism and developmental delay. Missense mutations in the
PTPN11
gene, encoding the protein tyrosine phosphatase SHP‐2, cause approximately 50% of cases.
Cystic Fibrosis Transmembrane Conductance Regulator Sequences: Comparative Analysis
Authors: Chen Jian‐Min , Lecointre Guillaume , Denamur Erick , Férec Claude 
Published: October 2007

Abstract
Information obtained by comparing cystic fibrosis transmembrane conductance regulator sequences has been used to refine the domain structure of the protein, to better understand the effects of the many mutations identified in typical and atypical cystic fibrosis patients, and to develop better animal models for cystic fibrosis studies.
Genetic Maps: Direct Meiotic Analysis
Authors: Hultén Maj , Tease Charles 
Published: October 2007

AbstractCytogenetic analyses provide a direct means of obtaining critical information on the patterns of meiotic recombination, at the genomic and chromosome‐specific levels, in both male and female germ cells. This information provides insight into the control of meiotic recombination in human germ cells and allows the construction of accurate sex‐specific genetic maps.
Genetic Mapping: Comparison of Direct and Indirect Approaches
Authors: Hultén Maj , Tease Charles 
Published: October 2007

Abstract
Two general approaches are available for investigating patterns of meiotic recombination in human germ cells: firstly, direct cytogenetic assessment of recombination in the cells in which it occurs; secondly, indirect genetic methods that exploit DNA polymorphisms. Each of these approaches has advantages and disadvantages for the production of genetic recombination maps.
deCODE: A Genealogical Approach to Human Genetics in Iceland
Authors: Gulcher Jeffrey R , Stefansson Kari 
Published: October 2007

Abstract
The identification of genes contributing to diseases provides the most direct method for discovering the rate‐limiting molecular pathways involved in their pathogenesis. deCODE has built a system of information in Iceland, linking medical information from patients who have given them specific informed consent, disease by disease, to a nation‐wide genealogy database and their molecular genetic information.
Chlorophyll‐binding Proteins
Authors: Lokstein Heiko , Grimm Bernhard 
Published: October 2007

Abstract
Chlorophylls and bacteriochlorophylls are the dominant pigments on Earth and serve noncovalently bound to specific proteins as principal light‐harvesting and energy‐transforming chromophores in photosynthetic organisms. The enormous progress that has been achieved in the recent years in elucidation of structures and functions of chlorophyll‐binding proteins, in particular, photosynthetic reaction centres and light‐harvesting (antenna) complexes is reviewed.
Acetogenic Bacteria
Authors: Imkamp Frank , Müller Volker 
Published: October 2007

Abstract
Acetogenic bacteria are a specialized group of strictly anaerobic bacteria that are ubiquitous in nature and essential for the global carbon cycle. Acetogens are characterized by a unique pathway, the Wood–Ljungdahl pathway of carbon dioxide reduction with the acetyl‐CoA synthase as the key enzyme of the pathway.
Abscisic Acid (
ABA
)
Authors: Cutler Adrian J 
Published: October 2007

Abstract
Abscisic acid (ABA) is a phytohormone found in all higher plants that mediates responses to abiotic stress conditions and controls stomatal aperture. It is also involved in seed development and is associated with seed dormancy. ABA is biosynthesized in higher plants from carotenoid precursors. ABA acts via a complex signalling process leading to both short‐term changes in ion channel activity and longer term effects on gene expression.
Galactolipids in Plant Membranes
Authors: Dörmann Peter 
Published: October 2007

Abstract
Photosynthetic membranes of higher plants contain high amounts of galactolipids (monogalactosyldiacylglycerol (MGDG) and digalactosyldiacylglycerol (DGDG)) that are indispensable for the efficiency of photosynthetic light reactions. When plants are grown under phosphate‐limiting conditions, phospholipids are partially replaced by galactolipids in plastidial and extraplastidial membranes, thereby releasing phosphate for other essential cellular processes.
Hypersensitive Response in Plants
Authors: Mur Luis AJ 
Published: October 2007

Abstract
The hypersensitive response (HR) in plants is a rapid and highly localized cell death that may be evoked by pathogen challenge. The HR is not a disease syndrome but is an effective, host‐regulated defence response which contributes towards the neutralization of the invading pathogen. Research into the elicitation and elaboration of the HR is a major research theme in plant biology where there is a close interaction between laboratory‐based experimental science and plant breeders in order to generate pathogen‐resistant crops.
Lignins
Authors: Ralph John , Brunow Gösta , Boerjan Wout 
Published: October 2007

Abstract
Lignins, complex and irregular polymers present in the cell walls of vascular plants, are built from three basic monolignols. An understanding of their nature is evolving as a result of detailed structural investigations aided by improvements in analytical methodologies and the availability of mutant and transgenic plants. Oxidative phenolic coupling reactions, where monomers primarily couple endwise with the growing chain, generate the polymer. The combinatorial linkage synthesis, the random generation of new optical centres each time a monolignol couples via its sidechain, and the inclusion of monomers other than the monolignols, cascade to create polymers with enormous variation in primary structure. Lignification is a strategic process that has evolved to allow plants considerable flexibility in dealing with various environmental stresses. The malleability offers significant opportunities to engineer the structures of lignins beyond the limits explored to date.
Natural Variation as a Tool for Gene Identification in Plants
Authors: Lippman Zachary B , Zamir Dani 
Published: October 2007

Abstract
The remarkable variety of plant form and adaptation observed in nature is genetically controlled, with input from environmental cues. Identifying the genes responsible for discrete as well as quantitative differences requires an understanding of the phenotypic and genetic diversity found among species. As opposed to gene cloning based on laboratory‐induced mutations, genes discovered through natural variation provide insight into the genetic mechanisms that drive evolutionary change of complex traits.
Regulatory Mechanisms of Phyllotaxy
Authors: Hudson Andrew 
Published: October 2007

Abstract
Hypotheses to explain phyllotaxy – the regular positioning of leaves on stems – were first proposed in the nineteenth century. Recently, polarized transport of the photohormone auxin was found to have a key role in generating phyllotaxy patterns that is consistent with classical models. How auxin might interact with other patterning mechanism to regulate phyllotaxy is currently unclear.
Resistance Genes (
R
Genes) in Plants
Authors: Hammond‐Kosack Kim E , Kanyuka Kostya 
Published: October 2007

Abstract

The activation of plant defence to restrict pathogen invasion is often conferred by resistance (R) proteins. The most prevalent class of R proteins contain leucine‐rich repeats (LRRs), a central nucleotide binding site and a variable amino terminal domain. Other classes possess an extracellular LRR domain, a transmembrane domain and sometimes an intracellular serine/threonine kinase domain. R proteins function in pathogen perception and/or the activation of conserved defence signalling networks. Upon infection, specific effectors produced by pathogens and presumed to promote growth in host tissue, are either directly recognized by different R proteins or are recognized by a targeted plant protein which is itself guarded by R proteins. Subsequently, various defence signalling networks are activated via R protein phosphorylation, oligomerization, degradation, conformational changes and by the shuttling of R proteins between the plant cell cytoplasm and the nucleus. The overall outcome is dramatic cellular reprogramming and the activation of coordinated defence responses both locally at the site of infection as well as systemically throughout the plant. Many
R
gene loci appear to be under positive genetic selection, which rapidly diversifies paralogous sequences. Some
R
genes are present in plant genomes at single loci as either a single sequence or an allelic series whilst others reside within tight or loose clusters of related
R
sequences. For a century, plant breeders have genetically characterized and used
R
genes to reduce the impact of pathogens on crop production. More recently, various transgenic approaches have been tested to provide broader spectrum control and improved durability.
Rhizobia
Authors: Allan Downie J 
Published: October 2007

AbstractRhizobia are soil bacteria that enter into a symbiosis with leguminous plants, producing root outgrowths (nodules) within which the bacteria convert atmospheric nitrogen into ammonia, that is made available to the plants. Legume nodules develop as a result of signal exchange between the symbiotic partners and the rhizobia infect the nodules via specialized infection threads. The bacteria are released into plant cells within the nodule and develop into a specialized form which is primarily dedicated to the production of ammonia via the action of an enzyme called nitrogenase.