bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetics, Reductionism and Autopoiesis
Authors: Rose Steven PR 
Published: October 2007

Abstract
There are many ways to describe and explain living processes; of these reductionism is one of the most powerful. Genetic reductionism begins with the idea of ‘hidden determinants’ of phenotypes, but there is no direct gene–phenotype link and the very concept of ‘a gene’ is problematic. Autopoiesis, the process by which an organism constructs itself out of the raw material of genes and environment, is a preferred concept to arbitrary nature/nurture partitioning. Yet there are strong ideological pressures toward adopting naïve genetic determinist metaphors.
Cystatins
Authors: Shridhar Ravi , Keppler Daniel , Sloane Bonnie F 
Published: October 2007

AbstractCystatins are endogenous inhibitors of papain‐like cysteine proteases. Since the discovery that a polypeptide from chicken egg‐whites (chicken cystatin) could inhibit the plant cysteine protease, papain, more than 40 mammalian cystatins have been isolated.
Crystallins
Authors: de Jong Wilfried W , Lubsen Nicolette H 
Published: October 2007

Abstract
‘Crystallins’ were originally designated as the characteristic eye lens protein constituents, but several of them are now known to function also in other tissues. In humans, three types of crystallins are distinguished (α‐, β‐ and γ‐crystallins), which together make up more than 90% of the water‐soluble lens protein. Additional and unrelated types of crystallins are present in other vertebrates.
γ‐Aminobutyric Acid (GABA) Receptors
Authors: Russek Shelley J 
Published: October 2007

Abstractγ‐Aminobutyric acid (GABA) is the most widely distributed inhibitory neurotransmitter in the central nervous system of adult vertebrates. Virtually all neurons are sensitive to GABA through its actions on either the diverse set of ionotropic type A receptors (GABAARs), the putative heterodimeric metabotropic type B receptors (GABABRs) or the ionotropic retina‐enriched type C receptors (GABACRs).
Facioscapulohumeral Muscular Dystrophy: Genetics
Authors: Upadhyaya Meena 
Published: October 2007

Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive.
Vertebrate Evolution: Genes and Development
Authors: Graham Anthony 
Published: October 2007

Abstract
The most significant differences between the vertebrates and the other chordates lie in the head. These novel features probably emerged as a result of modifications to the developmental program, and they are thought to have aided the vertebrates in assuming a predacious lifestyle. More specifically, the evolution of these characteristics must have involved extensive regionalization of the central nervous system, the evolution of neural crest and ectodermal placodes and alterations to the pharynx.
Cystathionine β‐Synthase (CBS) Deficiency: Genetics
Authors: Kozich Viktor , Kraus Jan Peter 
Published: October 2007

Abstract
Cystathionine β‐synthase is an enzyme that catalyzes the condensation of homocysteine and serine to cystathionine. Its deficiency, an autosomal recessive trait resembling Marfan syndrome, is caused by more than 120 different mutations that affect ribonucleic acid processing or properties of the enzyme. The most common pathogenic mutation, c.833T > C, arose by a complex evolutionary process as evidenced by its relatedness to the alleles that contain the frequent polymorphism 844ins68.
Genetic Counseling for Muslim Families of Pakistani and Bangladeshi Origin in Britain
Authors: Shaw Alison 
Published: October 2007

Abstract
An effective counseling service for British Pakistani and Bangladeshi Muslim families should avoid giving undue negative emphasis to cousin marriages, and be sensitive to the range of personal and religious considerations involved in the use of medical technologies in pregnancy. Access to services would be improved by employing appropriately trained bilingual genetic professionals and interpreters, and by offering additional professional consultations for other members of the family.
Ornithine Transcarbamylase Deficiency: Genetics
Authors: Azevedo Luísa , Amorim António 
Published: October 2007

Abstract

Ornithine transcarbamylase deficiency, the most common urea cycle disorder, is an X‐linked trait displaying large phenotypic heterogeneity, which includes cases of symptomatic heterozygotes and wide mutational spectrum. Moreover,
de novo
mutations are common, particularly in the male gametogenesis, being responsible for as much as three‐fourth of female abnormal chromosomes. Recurrent mutations found in different human populations are associated with hypermutable CpG dinucleotides. These features render diagnosis, genetic counselling and treatment particularly difficult. The responsible gene is, however, an excellent model for research on human mutation, due to (a) the mode of transmission (allowing direct haplotype ascertainment and evaluation of the role of recombination, which occurs only in females) and (b) the abundance and diversity of mutations. Treatment strategies involve reduction of protein level intake and stimulation of alternative metabolic pathways or liver transplantation.
Sex Chromosome Abnormalities
Authors: Migeon Claude J , Pappas Kara B 
Published: October 2007

AbstractIn human subjects, the so‐called sex chromosomes are the X‐ and the Y‐chromosomes. The X‐chromosome includes about 1500 genes, only a few of which are involved in sex development (such asDAX‐1andAR). The Y‐chromosome includes a very limited number of genes, but one of them,SRY, is most important in male sex development. Multiple autosomal genes are also involved in sex development. Abnormalities of sex chromosomes can involve errors in the number of sex chromosomes, such as 45,X0 (Turner syndrome), 47,XXX, 47,XXY (Klinefelter syndrome), 47,XYY or mosaicism with at least one cell line having an aberrant number of sex chromosomes. Sex chromosome abnormalities also include aberrations of a single gene of the sex chromosome; resulting in errors in sex differentiation. This may result in 46,XX testicular disorder of sex development (DSD) 46,XY gonadal dysgenesis, 46,XX gonadal dysgenesis or ovatesticular DSD.
Infectomics: Study of Microbial Infections Using Omic Approaches
Authors: Huang Sheng‐He , Li Bai‐Lian , Cao Hong 
Published: October 2007

Abstract
Infectomics is the study of infectomes, which are encoded by both host and microbial genomes, and mirror the interplay between pathogens and their hosts. There are three major types of infectomic approaches for dissecting of microbial infections: ecological infectomics, immunoinfectomics and chemical infectomics. The most challenging issue in infectomics is how to dissect the dynamic duality relationship between symbiosis and pathogenesis in microbial infections, and to predict and to mitigate infectious diseases.
Ethics and Evidence
Authors: Hallowell Nina 
Published: October 2007

Abstract
The familial nature of genetic information raises issues about patient confidentiality and the legitimacy of disclosure to biological kin. Ethical arguments center on the right to privacy versus the right to obtain knowledge about oneself. Empirical research suggests that, although the need for disclosure within the family is not contested, the practice of disclosing information to particular relatives is experienced as being ethically contentious.
m
RNA
Export
Authors: Cheng Hong , Dufu Kobina , Valencia Patricia , Reed Robin 
Published: October 2007

Abstract
The expression of protein‐coding genes is a multistep process that begins with transcription and processing of premessenger ribonucleic acid (pre‐mRNA) in the nucleus. The mature mRNA is then exported from the nucleus to the cytoplasm for translation into protein. Export of mRNA involves a specific cellular machinery that is highly conserved from yeast to humans.
Genetic Conflict and Imprinting
Authors: Moore Tom 
Published: October 2007

Abstract‘Imprinting’ is a mechanism causing differential expression of the parental alleles of certain genes during embryonic and postnatal development in mammals and during seed development in angiosperm plants. Imprinting evolves due to the reduced genetic relatedness of paternal, relative to maternal, alleles at loci influencing maternal investment in the offspring of polygamous females.
Translation Initiation: Molecular Mechanisms in Eukaryotes
Authors: Hellen Christopher UT , Pestova Tatyana V 
Published: October 2007

Abstract
Initiation is the first phase in protein synthesis, during which eukaryotic initiation factors assemble an 80S ribosome at an initiation codon of a messenger RNA (mRNA) such that this triplet is base‐paired to the CAU anticodon of aminoacylated initiator methionyl‐transfer RNA in the ribosomal peptidyl site. Initiation is followed by the elongation phase, in which the 80S ribosome moves along the mRNA, translating the open reading frame into protein.
Osteoporosis and Osteopetrosis
Authors: Abu‐Amer Yousef , Darwech Isra , Otero Jesse 
Published: October 2007

Abstract
Osteoporosis is the most prevalent among bone diseases. It is manifested by low bone mass and architectural abnormalities that lead to bone fragility and elevated fracture risk. Mechanistically, osteoporosis occurs as a result of decreased bone formation (by osteoblasts) and increased bone resorption (by osteoclasts). Thus, a tip in the balance favouring bone resorption results in osteoporosis e.g. porous bone. A wide range of factors contribute to the development of osteoporosis including genetic predisposition, ageing, reduced physical activity, diet, hormonal changes and more. Osteopetrosis, however, reflects the state of dense yet fragile bones due to dysfunctional or lack of osteoclasts.
Phenylketonuria
Authors: Güttler Flemming , Guldberg Per 
Published: October 2007

Abstract

Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase (PAH). Demonstration of mutations in the
PAH
gene establishes PAH deficiency as the cause of hyperphenylalaninemia in the newborn and provides a basis for predicting the metabolic phenotype and anticipating the dietary requirements of the patient.
Dictyosteliumas a Biomedical Model
Authors: Boeckeler Katrina , Williams Robin SB 
Published: October 2007

AbstractThe social amoeba,Dictyostelium discoideum, has been commonly used to investigate cell motility, signal transduction, cell type differentiation and development. With the recent completion of the genome and the increasing number of experimental tools available for the organism, it has now become an attractive model for examining some well‐defined biomedical questions.
Apoptosis: Regulatory Genes and Disease
Authors: Müllauer Leonhard , Wohlfart Sabine , Scheucher Brigitte 
Published: October 2007

Abstract
Apoptosis is a form of active cell death that proceeds along genetically determined and interacting pathways of biochemical reactions. It is essential for development and continuous physiological cell renewal in multicellular organisms. A deregulation of apoptosis contributes to the pathogenesis of various human diseases such as cancer, autoimmune disorders and neurodegenerative pathologies.
Oncogenic Transcription Factors: Target Genes
Authors: Zerbini Luiz F 
Published: October 2007

Abstract
An elevated percentage of oncogenes and tumour suppressor genes encode transcription factors. Deregulated expression of transcription factors plays critical roles in different diseases including cancer. Furthermore, the majority of oncogenic signalling pathways converge on sets of transcription factors that ultimately control gene expression patterns resulting in disease progression. Since the expression and activities of these transcription factors are tightly regulated, they represent highly desirable points of therapeutical interference to validate them as drug targets.
Telomeres and Telomerase in Ageing and Cancer
Authors: Ouellette Michel M , Choi Kyung Hyun 
Published: October 2007

Abstract
Telomeres protect the ends of chromosomes and shorten each time somatic human cells divide. As a consequence, cells enter senescence after a limited number of divisions. The enzyme telomerase expressed in cancer cells and renewal tissues can prevent the shortening of telomeres and extend cellular lifespan.
Retinitis Pigmentosa
Authors: Xi Quansheng , Chen Qiuyun , Wang Qing 
Published: October 2007

Abstract
Retinitis pigmentosa is a heterogeneous group of retinal dystrophies that are characterized by photoreceptor cell degeneration, night blindness, a gradual loss of peripheral visual fields and eventual loss of central vision. Several genes responsible for the development of retinitis pigmentosa have now been identified and cloned, and these discoveries have defined the genetic pathways for pathogenesis of retinitis pigmentosa.
Weapons of Mass Destruction: Genotoxicity
Authors: Gosden Christine , Gardener Derek 
Published: October 2007

Abstract
Many chemical, biological and radiological weapons of mass destruction are genotoxic and damage DNA so that survivors of exposures are at increased risk of cancers, infertility, medical disorders and having children with birth defects. Each agent has specific effects – for example, aflatoxin causes liver cancer and nuclear weapons cause leukemia – indicating that each type of weapon has precise genomic targets and suggesting that therapies might be developed to aid victims and to counteract the threats posed by such weapons.
Transcriptional Channelopathies of the Nervous System
Authors: Waxman Stephen G 
Published: October 2007

AbstractRecent studies have provided evidence for the existence of transcriptional channelopathies, which result from dysregulated expression of nonmutated channel genes. Examples of this new class of disorders are provided by peripheral nerve injury which triggers spinal sensory neurons to turn off some previously active sodium channel genes and turn on other previously silent sodium channel genes, a set of changes that can produce hyperexcitability of these cells, and by changes in sodium channel gene expression that may perturb cerebellar function in multiple sclerosis.
Mitochondrial Origins of Human Nuclear Genes and DNA Sequences
Authors: Martin William F 
Published: October 2007

AbstractThe human genome contains approximately 300 segments of mitochondrial DNA greater than 100 bp in length that were integrated during evolutionarily recent time into the nuclear chromosomes. The total number of genes encoding functional proteins in the human genome that ultimately stem from the ancestral mitochondrial genome is currently unknown, but it probably comprises a very substantial fraction of the genome.
Great Apes and Humans: Genetic Differences
Authors: Gagneux Pascal 
Published: October 2007

Abstract
Humans and great apes (collectively known as the hominoids) share genomes of very similar size. Humans and chimpanzees shared a common ancestor 5–6 million years ago. Changes in regulatory regions affecting gene expression have been postulated, and a study has shown that gene expression differs especially in the brain. Furthermore, there is evidence of uniquely human segmental duplications accumulating near chromosome centromeres. Some of these harbor differences in transcripts between great apes and humans. Very few genomic differences that cause major changes in coding sequences of unique genes are documented, but at least one leads to a widespread biochemical difference. Humans and great apes share remarkably similar genomes.There is evidence for long predicted changes in gene regulation,and we are beginning to learn about small genetic differences with large phenotypic consequences.
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 2007

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.
ATP
‐Binding Cassette (
ABC
) Transporter Supergene Family: Genetics and Evolution
Authors: Dean Michael 
Published: October 2007

Abstract
The ATP‐binding cassette (ABC) genes encode transporters that are expressed on the cell membrane and are involved in the export of substances out of the cell or the movement of compounds inside the cell. Many ABC genes are mutated in human diseases or have a role in drug resistance to cancer chemotherapy.
Low‐density Lipoprotein Receptor (LDLR) Family: Genetics and Evolution
Authors: Schneider Wolfgang Johann 
Published: October 2007

Abstract
The low‐density lipoprotein receptor family comprises a large and growing number of genes, whose products contain a characteristic set of structural domains. Attempts to delineate the evolutionary history of this gene family must take into consideration newly discovered functions, ranging from ligand binding by the extracellular domains to signal transduction through the cytoplasmic regions of the receptors.
Trypsinogen Genes: Evolution
Authors: Chen Jian‐Min , Férec Claude 
Published: October 2007

Abstract
An evolutionary approach was used to study disease‐associated genes, to elucidate gene conversion events occurring between the highly homologous trypsinogen genes and to understand the nature of natural selection acting on the gene products. Genomic, transcriptomic and proteomic data were brought together to understand the formation of pseudogenes and the creation of new genes at this locus.
DNA Replication Origins
Authors: Françon Patricia , Méchali Marcel 
Published: October 2007

Abstract
Replication of the genome of any living organism is integral to its maintenance and development. DNA replication starts from a single origin in the genome of simple organisms such as bacteria and small eukaryotic DNA viruses. In complex eukaryotes, such as metazoans, DNA replication starts from thousands of origins spread across the different chromosomes.
Intelligence, Heredity, and Genes: A Historical Perspective
Authors: Goodey CF 
Published: October 2007

Abstract
The idea of an intelligence specific to humans has not always existed but grew from pre‐modern ideas about their cultural and religious status. Galton's attachment of the term ‘intelligence’ to an existing statistical abstraction (the Gaussian curve) enabled this metaphysical concept to be correlated with the physical phenomenon of genetic material, since both were now apparently measureable. Like intelligence, the ‘nature/nature’ and ‘normal/abnormal’ frameworks dominating cognitive genetics are not trans‐historical but outcomes of the eugenic mind‐set, dependent on it for their validity.
Bioethics: Institutionalization of
Authors: Engelhardt H Tristram , Iltis Ana Smith , Jotterand Fabrice 
Published: October 2007

Abstract
Bioethics is a recognized discipline in the academy, an established practice within the clinic and a source of guidance for healthcare policy. As a complex of theoretical and practical undertakings, bioethics now commands an officially recognized cluster of norm‐setting and behavior‐guiding roles that have become institutionalized elements of the scholarly, clinical and public policy establishment.
Phosphoproteomics
Authors: Veenstra Timothy D , Conrads Thomas P 
Published: October 2007

Abstract
While proteomics aims to globally identify and measure the abundances of proteins, the challenge of phosphoproteomics is to determine globally the phosphorylation status of proteins present in the cell. Advances in mass spectrometry and developments in phosphopeptide enrichment methodologies is enabling high‐throughput global identification and relative quantitation of phosphopeptides.
Protein Structure Prediction and Databases
Authors: Domingues Francisco S , Lengauer Thomas , Sommer Ingolf 
Published: October 2007

Abstract
Three‐dimensional structures of proteins are the key to their molecular function. Traditionally protein structures are determined by experiment. The large set of protein sequences that become available through genomics or proteomics activities calls for computer support of protein structure prediction. Today several databases complement the comparatively small set of protein structures measured by experiment with much larger sets of protein models generated by computer.
Image Analysis Tools in Proteomics
Authors: Voordijk Sonja , Walther Daniel , Bouchet Gérard , Appel Ron D 
Published: October 2007

Abstract
Many proteomics projects rely heavily on the analysis of two‐dimensional electrophoresis gels, a step that is still considered as one of the major bottlenecks in the protein separation/identification process. The latest generation image analysis software supports high‐throughput and large‐scale studies.
Mouse
N
‐ethyl‐
N
‐nitrosourea (ENU) Mutagenesis
Authors: Justice Monica J , Northrop Jennifer L 
Published: October 2007

Abstract

Mutagenesis is a powerful tool for understanding gene function and disease that has been used in many organisms from bacteria to fish. The chemical
N
‐ethyl‐
N
‐nitrosourea is being used as a supermutagen in mice to allow forward genetic screens. The addition of a complex mammal such as the mouse to the list of model organisms that have been analyzed by large‐scale mutagenesis will provide new mammalian models of human diseases and will allow an analysis of conserved and divergent evolution among species.
Segmental Duplications and Genetic Disease
Authors: Emanuel Beverly S , Shaikh Tamim H 
Published: October 2007

Abstract
More than 50% of our genome is made up of repetitive DNA elements, which are classified into different categories based on their size, copy number, mechanisms of dispersal and several other factors. Segmental duplications represent one such class of repetitive element. Recently, several genetic diseases have been shown to be the result of chromosomal rearrangements mediated by segmental duplications.
Male Sex Determination: Genetics
Authors: Ostrer Harry 
Published: October 2007

Abstract

The key event in male sex determination is the transmission of a Y chromosome from father to offspring. In the developing gonad, the sex‐determining gene on the Y chromosome,
SRY
, triggers the expression of other genes that cause the gonad to develop as a testis. Hormones secreted by the developing testis influence the differentiation of male internal and external genitalia and other somatic features.
Kinetochore: Structure, Function and Evolution
Authors: Kitagawa Katsumi 
Published: October 2007

Abstract
Kinetochores are complexes of centromere DNA and proteins. Spindle microtubules bind to chromosomes at the kinetochore, and these complexes are required for accurate chromosome segregation during mitosis. The human kinetochore is a supramolecular complex of DNA and proteins that is involved in various mitotic activities.
Roma (Gypsies): Genetic Studies
Authors: Kalaydjieva Luba , Morar Bharti 
Published: October 2007

Abstract
The Roma, also known as Gypsies, are a transnational founder population, resembling a mosaic of socially and genetically divergent groups. Common origins from a small group of related founders result in sharing of maternal and paternal lineages and of ancient disease‐causing mutations across endogamous Romani groups in different countries. Genetic differentiation between groups, with an impact on genetic epidemiology, is the product of bottleneck events, random genetic drift and differential admixture, and correlates with the migrational history of the Roma in Europe.