bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inherited Neuromuscular Disease
Authors: Ferguson Toby A , Lynch David R 
Published: October 2009

Abstract
Inherited neuromuscular disease encompasses a broad array of diseases afflicting many people at all stages of life. The main categories of inherited neuromuscular disease are diseases of peripheral nerve (neuropathy), diseases of muscle (myopathy and dystrophy) and diseases of spinal cord motoneurons (motor neuron disease).
Predictive Genetic Testing: Psychological Impact
Authors: Evers‐Kiebooms Gerry , Denayer Lieve 
Published: October 2009

AbstractPredictive genetic tests aredeoxyribonucleic acid(DNA) tests that predict the future of an asymptomatic person in regard to a specific disease that runs in the family. They require an adequate multidisciplinary counselling approach because the test result has consequences for the psychological well‐being of those tested and their families.
Gene Distribution in Human Chromosomes
Authors: Bernardi Giorgio , Saccone Salvatore 
Published: October 2009

Abstract

The distribution of genes in the human genome is strikingly nonuniform. Gene density is very high in GC (G, guanine; C, cytosine)‐rich isochores and very low in GC‐poor isochores (isochores are long
deoxyribonucleic acid
(DNA) regions characterized by a fairly homogeneous GC level). Since GC‐rich and GC‐poor isochores can be localized on human chromosomes, this ‘chromosomal compositional mapping’ provides information on the distribution of genes on chromosomes. The completion of the human genome sequence and the mapping of isochores on chromosomes have recently confirmed these results.
Chromosomes in Mammals: Diversity and Evolution
Authors: Wienberg Johannes , Müller Stefan 
Published: October 2009

Abstract
Inspecting the morphology of chromosomes in different species has been a classical tool for evolutionary biologists. DNA 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. Here we describe recent insights into the mode and tempo of mammalian chromosomes evolution using molecular cytogenetic approaches.
Sociobiology, Evolutionary Psychology and Genetics
Authors: Bateson Patrick 
Published: October 2009

AbstractMuch of human behaviour, including violence and those activities thought to be characteristic of each sex, has been attributed to the heritage of human evolution. These ideas have stimulated much discussion but have been criticized for playing down the interplay between the developing individual and the environment. In modern times, their clearest expression has been in the writings of the sociobiologists and the evolutionary psychologists.
Thrifty Genotype Hypothesis and Complex Genetic Disease
Authors: Vardi Pnina , Bloch Konstantin 
Published: October 2009

Abstract
Thrifty genes might be responsible for the appearance and increasing frequency of diseases that were uncommon before the emergence of the affluent Western life style. Evolutionary selection of such genes enabled metabolic adaptation to disadvantageous conditions, but now thrifty gene expression is detrimental to health.
Serpins: Evolution
Authors: Silverman Gary A , Askew David J , Irving James A , Luke Cliff J , Kaiserman Dion , Bird Phillip I , Whisstock James C 
Published: October 2009

Abstract

The serpin superfamily of
serine
(and
cysteine
) proteinase inhibitors contains over 750 members represented in Bacteria, Archaea and Eukarya. All members of the serpin family share a unique tertiary structure that is critical to both inhibitory and noninhibitory functions. Serpins are involved in a vast array of biological processes, including the regulation of thrombosis, fibrinolysis and inflammation, and host defense.
Fugu
: The Pufferfish Model Genome
Authors: Venkatesh B 
Published: October 2009

Abstract

The genome of the Japanese pufferfish,
Fugu rubripes
, which is among the smallest vertebrate genomes, is an attractive model vertebrate genome, and was the first vertebrate genome to be sequenced after the human genome. It has proved to be valuable for discovering novel genes and evolutionarily conserved gene regulatory elements in the human genome, and continues to serve as a ‘reference’ genome for understanding the evolution of vertebrate genomes.
Protein Glycosylation, an Overview
Authors: Lisowska Elwira 
Published: October 2009

Abstract
Glycosylation is the most common posttranslational modification of proteins. It is a complex process involving many functional proteins and resulting in a great diversity of structures. Biological role of glycosylation and molecular and genetic basis of glycosylation disorders have recently been extensively explored. The goal of this short article is to signalize the variety of problems of this vast field of research.
DELLA
Proteins in Signalling
Authors: Alvey Liz , Boulton Margaret I 
Published: October 2009

Abstract
DELLAs are a family of nuclear proteins that act as growth repressors throughout the life cycle of higher plants. Derepression is mediated through the gibberellic acid (GA)‐dependent degradation of DELLAs and the key components of the GA‐DELLA signalling pathway (the GA receptor and the F‐box protein involved in DELLA destruction) have recently been identified. It is becoming increasingly clear that DELLAs promote a plant's survival by integrating its growth responses to a wide range of endogenous and environmental signals.
Disorders of Cholesterol Biosynthesis, Genetics of
Authors: Phillipi Carrie A , Steiner Robert D 
Published: October 2009

AbstractSmith‐Lemli‐Opitz syndrome (SLOS) is the most common and best understood of the inborn errors of cholesterol metabolism. Comprising a heterogeneous group of disorders, inborn errors in cholesterol biosynthesis result in characteristic but variable phenotypes. SLOS is an inherited disorder caused by mutations inDHCR7which encodes the final enzyme in the cholesterol synthetic pathway. The features of SLOS are thought to be related to cholesterol deficiency and/or accumulation of cholesterol precursors and their metabolites. Therefore, supplementation of cholesterol is a commonly employed potential therapy. A better understanding of SLOS and other inborn errors of cholesterol biosynthesis may shed light on the importance of cholesterol biosynthesis in embryo‐ and morphogenesis and provide clues to treatment.
Alzheimer Disease, Genetics of
Authors: Kehoe Patrick G 
Published: October 2009

Abstract
In almost 20 years of ongoing research, the genetic cause of Alzheimer disease (AD) is understood for less than 5% of all cases. For the remainder of AD sufferers, multiple genetic and environmental factors probably play a role in contributing to disease onset, severity and progression. To date, only the gene encoding apolipoprotein E (APOE) is recognized as a major genetic risk factor, but numerous other candidates have emerged. What we have learned from these findings is discussed as are the results from recent genome linkage studies on affected sibling pairs which have yielded new chromosomal regions of interest and in turn new candidate genes alongside those reported from ongoing candidate gene association studies.
Actinobacteria
Authors: Trujillo Martha E 
Published: October 2009

Abstract

Actinobacteria are Gram‐positive bacteria with a high mol% G+C composition, widely distributed in soil where they play an important part in the decomposition of organic matter. These bacteria are responsible for the distinctive scent of freshly exposed, moist soil. Actinobacteria are morphologically diverse ranging from coccoid, fragmenting hyphal forms to those with a highly differentiated branched mycelium. Many of these bacteria also produce external spores. Several actinobacteria are important human, animal and plant pathogens. However, they are major producers of medically important antibiotics, especially members of the genus

Streptomyces

, the most abundant group.
Convention on Biological Diversity
Authors: Höft Robert 
Published: October 2009

Abstract
The Convention on Biological Diversity is the key global instrument on the conservation and sustainable use of biological diversity and the fair and equitable sharing of the benefits from the use of genetic resources. Through a globally agreed target aimed to reduce the loss of biodiversity the Convention promotes the maintenance of healthy ecosystems, the protection of threatened species and the conservation of the genetic material that underpins populations of wild and domesticated species. Increasingly, nongovernmental organizations, civil society groups and indigenous and local communities work through the Convention to urge countries to live up to their commitments and to support them, for example in the establishment and effective management of protected area networks. As population growth and economic pressures enlarge humanity's ecological footprint it remains to be seen whether the Convention is an effective tool for conserving the beauty, diversity and inspiring nature of our living environment for future generations to enjoy.
Millennium Ecosystem Assessment
Authors: Mace Georgina M 
Published: October 2009

Abstract
The Millennium Ecosystem Assessment was a scientifically based global review of the state of the world's ecosystems and their ability to meet the needs of a growing human population. Requested by governments through four international conventions, the assessment examined a broad suite of ecosystem services. Sixty per cent of 24 ecosystem services assessed at the global scale were degraded or overused. Using various modelling approaches, future prospects were found to improve only where policies related to environmental management were radically altered, in particular towards proactive planning for ecosystem services, and with the implementation of economic, political and technological incentives at scales ranging from global to local.
Amphibian Decline
Authors: Halliday Tim 
Published: October 2009

Abstract
Amphibians are susceptible to changes to both aquatic and terrestrial habitats caused by human activities. Amphibians are declining throughout the world and 32% of species are threatened with extinction. Most disturbingly, many declines, and some extinctions, have occurred in locations where they are supposedly protected. Habitat destruction is the most significant cause of amphibian declines, but other factors, including ultraviolet radiation, contamination by agricultural and industrial chemicals, climate change, introduced predators and overexploitation also play an important role. The most dramatic declines and extinctions have been caused by a fungal disease, chytridiomycosis, which has recently become globally distributed.
Water Transport across Cell Membranes
Authors: Reuss Luis 
Published: October 2009

Abstract
The focus of this article is on the pathways and molecular mechanisms of water transport across the plasma membrane. We discuss basic principles of water transport, including diffusion and osmosis and apply these concepts to the case of water permeation across the cell membrane. The general conclusion is that diffusion and osmosis can explain water transport and that other mechanisms (e.g. cotransport) are less likely. Concerning the pathways for water movement across the plasma membrane, we consider the lipid bilayer, water‐selective pores (aquaporins, AQPs), nonselective larger pores, ion channels and membrane carriers. We conclude that the lipid bilayers and AQPs are the main pathways for transmembrane water fluxes, by solubility–diffusion and single‐file transport, respectively.
Plant Viruses as Gene Expression and Silencing Vectors
Authors: Lomonossoff George P , Montague Nicholas P 
Published: October 2009

Abstract
It has proven possible to introduce foreign sequences into the genomes of plant viruses in such a way that their ability to replicate is retained. As a result, the foreign sequence is amplified resulting in either the high‐level expression of a foreign protein or virus‐induced gene silencing of an endogenous plant gene. This has meant that plant virus‐based vectors have found widespread application both as a means of protein expression and as a tool in functional genomics.
Insect Viruses
Authors: Christian Peter D , Possee Robert D 
Published: October 2009

Abstract
Viruses from over 16 families have been isolated from insects to date and show as much variation in structural and organizational paradigms as viruses from most other animal classes. Unique to the insect viruses is the ability of several virus families to produce a large pseudocrystalline occlusion body that protects the mature virus particles in the environment. Such occlusion bodies have led to these viruses evolving a complex array of associations with their insect host and in many cases causing large‐scale disease epizootics. Among the remaining nonoccluded insect viruses all of the basic structural and organizational paradigms are present in different families. However, the life history strategies of their insect hosts has led the insect viruses to evolve some intriguing replicative strategies of their own that have few, if any, counterparts among the other animal viruses.
Varicella Zoster: Virus and Disease
Authors: McDonald Suzanna LR , Breuer Judith 
Published: October 2009

Abstract

Varicella zoster virus

(VZV), also known as

human herpes virus 3

(HHV3), causes varicella (chicken pox) upon primary infection, establishes latency in dorsal root ganglia (DRG) and can later reactivate to cause herpes zoster (shingles). Difficulties in studying the pathogenesis of VZV; because of its high cell association and narrow host range, have been overcome through the development of the VZV severe combined immunodeficient (SCID) mouse model carrying human tissue implants. VZV is the first human herpes virus for which a live attenuated vaccine has been developed.
Chromosomal Rearrangements in the Human and Chimpanzee Lineages
Authors: Kehrer‐Sawatzki Hildegard , Cooper David N 
Published: October 2009

Abstract

Among the structural differences evident between humans and chimpanzees are large chromosomal rearrangements which are visible by cytogenetic analysis. These include the fusion that created human chromosome 2, nine pericentric inversions and numerous chromatin additions at the telomeres. Recently performed genome‐wide comparative analyses have also revealed a considerable number of submicroscopic structural variations which contribute significantly to the chromosomal divergence between humans and chimpanzees. This microheterogeneity comprises inversions, duplications and deletions ranging in size from a few base pairs up to several megabases. These copy number differences appear to have given rise to several hundred megabases of genomic
deoxyribonucleic acid
(DNA) sequence that are either present or absent in humans as compared to chimpanzees. Since many of these lineage‐specific copy number differences contain genes, humans and chimpanzees may differ significantly with respect to their gene content, and some of these differences could have influenced the evolution of lineage‐specific traits.
Alternative Splicing in the Human Genome and its Evolutionary Consequences
Authors: Florea Liliana 
Published: October 2009

Abstract

Alternative splicing, or the ability of genes to produce multiple
messenger ribonucleic acid
(mRNA) and protein isoforms by using different combinations of a gene's segments (exons), has recently been regarded as a mechanism that can explain how functional diversity in higher organisms can be achieved from a small number of genes, and thus can ultimately contribute to the increase in organism complexity during evolution.
Evolution of Gene Expression in Human and Chimpanzee Brains
Authors: Osada Naoki , Sumio Sugano , Suzuki Yutaka 
Published: October 2009

Abstract

The
deoxyribonucleic acid
(DNA) microarray technique enables us to gauge the difference in gene expression level between human and chimpanzee brains at a genome‐wide level. Several studies have shown that (1) gene expression is more conservative in the brain than in other tissues, (2) the divergence rate of gene expression in the brain is higher in the lineage of humans than in the chimpanzees and (3) more genes are up‐regulated in human brains.
Hotspots of Mammalian Chromosome Evolution
Authors: Froenicke Lutz , Lyons Leslie A 
Published: October 2009

Abstract
The emergence of high‐quality mammalian whole genome sequence data has enabled for the first time a comprehensive investigation of the molecular mechanisms of mammalian chromosome evolution. New sequence data reveal an unexpected degree of chromosomal plasticity, both in the healthy human population and in cross‐species evolutionary comparisons. In the context of the evolutionary framework established by comparative cytogenetics, the new data reveal lineage‐specific chromosomal rearrangement pattern often linked to particular duplicated or repetitive sequences. Multispecies comparisons indicate evolutionary reuse of certain chromosomal breakpoints as well as some associations of breakpoints to cytogenetic chromosomal landmarks.
Reconstruction of Ancestral Genomes
Authors: Stanyon Roscoe , Garofalo Fiorella , Bigoni Francesca 
Published: October 2009

Abstract
Comparative genomics allow speculation about the content of the genome of ancestral species and for many major branching points on the tree of life, hypothetical ancestral genomes can be reconstructed. These reconstructions provide insight into evolutionary forces that have sculpted the genomes of extant species.
Susceptibility to Human Infectious Diseases, Genetics of
Authors: Kaslow Richard A , Shrestha Sadeep , Tang Jianming ‘James’ 
Published: October 2009

AbstractMicrobial pathogens have shaped portions of the human genome over the millennia of its evolution, resulting in human genetic diversity and differential susceptibility to infectious diseases. Distinguishing characteristics of infectious diseases permit and require specific approaches to the investigation of genetic influences that can differ substantially from highly favourable to highly unfavourable. Expanding knowledge and improved technology are revealing importantdeoxyribonucleic acid(DNA) sequence and structural polymorphism in critical pathways of the innate and acquired immune systems. Reports are proliferating on relationships of responses to infection with variants of genes that encode secreted cytokines and lectins along with their receptors, intracellular signalling molecules, components of the antigen‐presenting machinery and other effector or regulatory products. These notable accomplishments foreshadow both revelations and challenges in dissecting the complex host genetic mediation of differential responses to infectious diseases in individuals and populations.
Structural Diversity of the Human Genome and Disease Susceptibility
Authors: Smith Richard S , Gutiérrez‐Arcelus María , Tran Charles W , Park Stephanie , Couter Cheryn J , Lee Charles 
Published: October 2009

AbstractStructural genomic variants (SGVs) can span in size from the large microscopically visible chromosomal aberrations (>5 Mb) to variants identified at the DNA (deoxyribonucleic acid) sequence level (e.g. small insertions/deletions of a few base pairs). It has recently been shown that SGVs are widespread among humans, have some degree of specificity within human continental groups, and likely contribute significantly to differential disease susceptibility. Currently, the most common prevalent form of SGVs is copy number variants (CNVs), which are defined as DNA segments greater than 1 kb in length that exist in variable copy numbers between individuals. In this review, we provide an overview of our current understanding of human structural genomic variation, with a particular focus on CNVs and their associations in disease susceptibility.
The Evolution of Fatness and Susceptibility to Obesity
Authors: Wells Jonathan CK 
Published: October 2009

AbstractEfforts to address the obesity epidemic require that we understand the impact of our modern environment on the human phenotype. An evolutionary approach can be used to address two questions. First, we need to understand what kind of animal we are, so that we comprehend why environmental changes induce increased fat deposition. Second, we need to understand what kind of environments our species evolved in, to identify what exactly we are altering in the twentieth and twenty‐first centuries.
Malarial Resistance and Susceptibility, Genetics of
Authors: Verrelli Brian C 
Published: October 2009

Abstract
Resistance to malaria in humans, as well as drug and insecticide resistance by the malarial parasite and the mosquito that acts as its vector, respectively, is the result of adaptation by all three organisms. Characterization of the function and evolution of the genes underlying this resistance and susceptibility is paramount to our understanding of malarial treatment and eradication.
Evolution of Human Gene Expression Control
Authors: Babbitt Courtney C , Wray Gregory A 
Published: October 2009

Abstract

The evolutionary history of

Homo sapiens

has been influenced by selection acting not only on coding regions of the genome, but also on regulatory sequences which control the timing, location and magnitude of gene expression. As the mutations affecting the timing and level of gene expression may be responsible for many of the traits that distinguish us from our closest relatives, selection on regulatory elements of the genome also may have had a large role in shaping recent human evolutionary change.
Human and Macaque Transcriptomes: A Comparison
Authors: Walker Stephen J 
Published: October 2009

Abstract
The initial deciphering of entire genomes from several mammalian species including human, chimpanzee and macaque has now been accomplished and the massive datasets are publicly available in the form of high‐quality draft sequences. As a direct result, the development and commercialization of an ever‐increasing number of sensitive tools to measure global gene expression (the ‘transcriptome’) is providing unique opportunities to evaluate and compare biological systems. One particularly important application is to use tissues derived from macaque models of toxicity and disease to infer responses in their human counterparts. Understanding the similarities and differences in how macaques and humans respond, at the functional genomic level, to perturbations in their environments has significant relevance in biomedical research.
Bidirectional Gene Pairs in the Human Genome
Authors: Koyanagi Kanako O , Imanishi Tadashi , Gojobori Takashi 
Published: October 2009

Abstract
Bidirectional gene pairs, also called head‐to‐head gene pairs, are defined as two genes on different strands with adjacent 5′‐ends. They are transcribed divergently in a variety of coordinated fashion. The region between two transcription start sites of a bidirectional gene pair is designated as a putative bidirectional promoter.
Bitter Taste Sensitivity in Humans and Chimpanzees
Authors: Behrens Maik , Meyerhof Wolfgang 
Published: October 2009

Abstract

Bitter taste receptors serve an important function during evolution. They are designed to detect toxic plant metabolites before ingestion. With respect to bitter taste receptors the genetic repertoire of animal species is highly diverse reflecting species differences in their metabolic requirements, the variety of habitats, and evolutionary history. By comparing the bitter taste receptor genes of humans with our closest relative, the chimpanzee, we learn about some of the evolutionary forces that shaped the development modern human beings. This review discusses the current knowledge on bitter taste physiology,
TAS2R
function, and evolutionary conservation of human and chimpanzee TAS2R genes.