bluuebunny/crossref_metadata_2025_split huggingface dataset:
HapMap Project
Authors: Traynor Bryan J , Singleton Andrew 
Published: October 2009

Abstract

The inception of the International Haplotype Map Project (
http://www.hapmap.org/
) and completion of stages I and II of this project has led to the production and public dissemination of a map of patterns of human genetic diversity in four populations; Japanese from Tokyo, Central Europeans from Utah, Han Chinese and Yorubans from Nigeria. These data present unprecedented opportunities in human genetics; they provide invaluable information on human evolutionary history and for the first time present a roadmap for mapping genetic variability that underlies complex traits. The invention and application of ultra‐high throughput genotyping technologies is beginning to realize this latter goal, even in the early days of this effort the HapMap Project is proving worth the time and resources invested thus far.
Genetics and the History of the Basque People
Authors: Alonso Santos 
Published: October 2009

Abstract

The linguistic peculiarity of the Basques raised the expectation that a similar situation could be found at the biological level. Recent debate has focused mainly on two points: the genetic heterogeneity of the Basque population and whether Basques are the best representative population of Palaeolithic Europe. Several lines of evidence indicate that at least some Basque DNA (
deoxyribonucleic acid
) lineages (alleles) have evolved
in situ
, probably since pre‐Neolithic times. In this regard, we must bear in mind that the term ‘Basque’ is a present‐day cultural concept and we should be cautious in projecting current cultural affiliations into the past.
Genetics and the Origins of the British Population
Authors: Richards Martin , Capelli Cristian , Wilson James F 
Published: October 2009

AbstractA combination of archaeology and evolutionary genetics has led to a reappraisal of the major demographic transitions in British prehistory. The role of ‘Celtic’ migrations has been questioned, with the aboriginal population of the islands seen largely as the result of settlement at the end of the last Ice Age, probably augmented by further settlement during the Neolithic. The demographic impact of the Anglo‐Saxons, considered minor by archaeologists, has been estimated to be high by some geneticists, but this is the result of implausible assumptions about the preceding genetic composition of the islands and overinterpretation of poorly resolved genetic data.
Genetics and the Origins of the Irish
Authors: McEvoy Brian , Bradley Daniel G 
Published: October 2009

AbstractPopulation genetics, principally using Y‐chromosome and mitochondrialdeoxyribonucleic acid(DNA), has provided many novel insights into Ireland's past. These inlcude broad issues of early time‐frame including the origin of the first Irish 9000 years before present, as well as the population impact associated with later events such as the appearance of Celtic culture and the Viking invasions. Furthermore, the Y‐chromosome in combination with surname information has also allowed questions of more recent nature and smaller scale to be addresssed including the levels of patrilineal kinship in early medieval Irish kingdoms and the origin and subsequent history of Irish surnames themselves.
Epigenetic Variation in Humans
Authors: Wilkins Jon F 
Published: October 2009

Abstract

Epigenetic modifications alter the expression behaviour of genes without involving changes to the DNA (
deoxyribonucleic acid
) sequence itself. These modifications take a variety of forms, most notably DNA methylation and histone modification. Epigenetic differences allow alleles, cells or even individuals that are genetically identical to exhibit radically different phenotypes. Differentiation among cells underlies tissue differentiation and development. Differentiation between alleles within a cell is used to enhance clonal diversity, as in the immune system, and has been highjacked in the service of evolutionary genetic conflicts, as seen in the phenomenon of genomic imprinting. Epigenetic differences among individuals may account for some of the differences between monozygotic (identical) twins. Some recent studies have even suggested that these epigenetic mechanisms may allow organisms to adapt to environmental changes on very short timescales. Environmental adaptations could be epigenetically encoded and passed on to offspring, providing a potential mechanism for a neo‐Lamarckian mode of evolution.
Population Genetics of the Ashkenazim
Authors: Faerman Marina 
Published: October 2009

Abstract
Ashkenazi Jews represent the largest Jewish community and traditionally trace their origin to the ancient Hebrews who lived in the Holy Land over 3000 years ago. Ashkenazi Jews are among the groups most intensively studied by population geneticists. Here, main genetic findings and their implications to the history of Ashkenazim are presented reflecting in a way major developments in population genetics as a discipline. Altogether, Ashkenazi Jews appear as a relatively homogenous population which has retained its identity despite nearly 2000 years of isolation and is closely related to other Jewish communities tracing their common origin to the Middle East.
Reconstructing Human History Using Autosomal, Y‐Chromosomal and Mitochondrial Markers
Authors: Yngvadottir Bryndis , Carvalho‐Silva Denise R 
Published: October 2009

Abstract

By analysing genetic variation between and within extant human populations it is possible to make inferences about the origins and relationships of our ancestors. Although the autosomes give us a representative account of genomic history in humans, the unique characteristics of the maternally inherited mitochondrial
deoxyribonucleic acid
(mtDNA) and the paternally inherited Y chromosome can provide information about the histories specific to women and men. Current evidence suggests a recent African origin for modern humans <200 thousand years ago (KYA) and a single small migration out of Africa 50–70 KYA, with progressive loss of diversity with distance from Africa, somewhat complicated by sex‐specific effects and natural selection.
The Peopling of the Americas as Revealed by Molecular Genetic Studies
Authors: Schurr Theodore G 
Published: October 2009

AbstractMolecular genetic studies of Siberian and Native American populations indicate that ancestral Native Americans originated in south‐central Siberia and entered the New World between 20 000 and 15 000 years before present (ybp), after thousands of years of isolation in Beringia. These early immigrants probably followed a coastal route into the New World, where they expanded into all continental regions. A second expansion, possibly coming from the same area of Siberia, may have entered the Americas, and genetically influenced North American populations. Beringian populations moved into northern North America after the Last Glacial Maximum (LGM) and gave rise to Aleuts, Eskimos and Na‐Dené Indians.
The Evolution of CentromericDNASequences
Authors: Bayes Joshua J , Malik Harmit S 
Published: October 2009

AbstractHuman centromeres are comprised of millions of base pairs of tandemly repeateddeoxyribonucleic acid(DNA) sequences. Contrary to the expectation that centromeric sequences would be extremely constrained for centromere function throughout primate evolution, these sequences represent some of the most rapidly evolving sequences in the genome. This rapid evolution in spite of conserved function has been referred to as the ‘centromere paradox’, and it is hypothesized that an ancient, ongoing genetic conflict is at the heart of this rapid evolution.
The Biological Significance of Conserved Nongenic
DNA
Authors: Dermitzakis Emmanouil T 
Published: October 2009

Abstract

Although the completion of the human genome was a landmark in genomics, the availability of a single genome did not offer the opportunity to detect most of the functional part of the genome. With the completion of the mouse genome and the subsequent release of additional mammalian and other vertebrate genomes, a large number of conserved nonprotein‐coding sequences were discovered. The most surprising discovery was that the nongenic fraction of the genome that is under purifying selection is larger than the coding fraction of the genome. In this article we review some of the key discoveries in the field and discuss methodologies for the computational and functional interpretation of nongenic
deoxyribonucleic acid
(DNA).
Evolution of Alpha Satellite
DNA
Authors: Ugarković Đurđica 
Published: October 2009

Abstract

Alpha satellite
deoxyribonucleic acid
(DNA) is based on 171‐bp tandem repeats located in the centromeric regions of all primate chromosomes. It evolves through a series of amplification events resulting in the spreading of ‘new’ subfamilies which replace the ‘old’ ones and confer centromere function. Alpha satellite transcripts play an important role in kinetochore formation and the establishment of pericentromeric heterochromatin.
Inferring the Process of Human–Chimpanzee Speciation
Authors: Takahasi K Ryo , Innan Hideki 
Published: October 2009

Abstract

By examining
deoxyribonucleic acid
(DNA) sequence data from closely related species, we may gain insights into the genetic mechanism and process leading to the formation of new species. Recently, several interesting hypotheses have been proposed independently that maintain a complex mode of speciation of humans and chimpanzees, but at present, there does not seem to be any compelling evidence to support this provoking scenario.
Human Lineage‐specific Gene Inactivation
Authors: Grus Wendy E , Zhang Jianzhi 
Published: October 2009

Abstract
Pseudogenes are nonfunctional vestiges of genes. Investigating genes that were inactivated specifically on the human lineage can reveal the genetic basis of inter‐species differences between humans and chimpanzees and inter‐individual differences within humans. It can also help to understand the specific selective pressures that were altered during human evolution.
Segmental Duplications and Their Role in the Evolution of the Human Genome
Authors: Xue Yali , Tyler‐Smith Chris 
Published: October 2009

Abstract
Segmental duplications are unusually abundant in the human genome, perhaps because they carry genes whose amplification has been selectively advantageous during primate and human evolution. Their presence leads to genome instability, and so they are associated with genomic disorders, but they are also involved in the continuing evolution of the genome, for example by leading to increases in gene product, variant gene copies and fusion genes.
Human‐specific Accelerated Evolution of Noncoding Sequences
Authors: Webster Matthew T 
Published: October 2009

Abstract
Mutations in noncoding elements that regulate gene expression are likely to be responsible for a large fraction of phenotypic evolution. Hundreds of putative regulatory elements have been identified with accelerated evolutionary rates in the human lineage, which could be involved in human‐specific adaptations. However, instead of being driven by natural selection, the elevated rates of sequence evolution appear to be largely governed by neutral processes.
The Evolution of Introns in Human Genes
Authors: Gazave Elodie , Fernando Olga , Navarro Arcadi 
Published: October 2009

Abstract
Introns, which constitute the largest fraction of most eukaryotic genes and which had been considered to be neutral sequences, are increasingly acknowledged as functionally important parts of our genomes. For quite some time, research on levels of nucleotide substitution in human introns has been incomplete and yielded contradictory results, but the finishing of the chimpanzee genome allowed for new and more detailed studies that are proving to be key to unveil intronic functions.
Selection against Amino Acid Replacements in Human Proteins
Authors: Subramanian Sankar 
Published: October 2009

Abstract
The similarity of a large fraction of amino acid residues of human protein sequences with that of other species implies that the mutations altering those amino acids were purged through natural selection during the evolution of the human lineage. The deleterious effect of amino acid replacement mutations in human population is manifested by the association of many of these with genetic diseases.
Quality Control of Protein Folding in the Cytosol
Authors: McClellan Amie J 
Published: October 2009

Abstract
In order to function properly, newly synthesized proteins must rapidly and efficiently attain their native conformations. If they fail to do so, the cell may be adversely affected due to loss of function or toxic gain of function effects of misfolded polypeptides. Effective quality control mechanisms to recognize and eliminate misfolded proteins are thus critical for cell viability.
High‐throughput ‘On Chip’ Protein and Nucleic Acid Transfection
Authors: Herrmann Frank , Isalan Mark 
Published: October 2009

Abstract
Transfection describes the nonviral introduction of exogenous molecules into eukaryotic cells. Several transfection methods have been developed to transfer nucleic acids, proteins and other macromolecules across the plasma membrane efficiently. To facilitate large‐scale genomic and proteomic studies there is an increasing need for automated high‐throughput transfection platforms.
Processed Pseudogenes and Their Functional Resurrection in the Human and Mouse Genomes
Authors: Sakai Hiroaki , Itoh Takeshi , Gojobori Takashi 
Published: October 2009

Abstract

The genomes of human and mouse contain thousands of pseudogenes. Processed pseudogenes, which were derived through retrotransposition, were recognized as ‘dead on arrival’ elements in the genomes, and they have been thought to have no contribution to genome evolution. However, several recent studies have shown that a significant portion of processed pseudogenes were transcribed and were able to function as noncoding
ribonucleic acid
(RNA) genes. Since the transcription mechanism and functions of transcribed processed pseudogenes still remain unknown, it is of great importance to elucidate the biological roles of processed pseudogenes by both approaches of experiments and bioinformatics.
Comparing the Human and Medaka Genomes
Authors: Sasaki Takashi , Shimizu Nobuyoshi 
Published: October 2009

Abstract

Medaka (

Oryzias latipes

) is a small teleost fish for which well‐established resources for genetic and genomic studies are available, hence, medaka has become an excellent laboratory model animal for life sciences. Comparing the human and medaka genomes provided novel information on the sets of genes, repetitive elements, gene regulatory elements and the evolutionary conserved elements at the nucleotide sequence level. The genomic information implied chromosomal evolution in the vertebrate lineage and the use of medaka for medical science.
AMP
‐Activated Protein Kinase (
AMPK
)
Authors: Hardie D Grahame 
Published: October 2009

Abstract
AMPK (AMP‐activated protein kinase) is a protein kinase that acts as a sensor of cellular energy status by monitoring the levels of adenine nucleotides, especially adenosine monophosphate (AMP) and adenosine‐5′‐triphosphate (ATP). When activated by falling cellular energy status, it acts to restore energy balance by switching on ATP‐producing catabolic pathways, while switching off any energy‐requiring processes (such as biosynthesis, cell growth and division) that are not essential for short‐term survival. AMPK is also regulated by hormones and cytokines that control energy balance at the whole body level.
Nitrogen Fixation in Cyanobacteria
Authors: Stal Lucas J 
Published: October 2009

Abstract

Cyanobacteria are oxygenic photosynthetic bacteria that are widespread in marine, freshwater and terrestrial environments and many of them are capable of fixing atmospheric nitrogen. But ironically, nitrogenase, the enzyme that is responsible for the reduction of N
2
, is extremely sensitive to O
2
. Therefore, oxygenic photosynthesis and N
2
fixation are not compatible. Hence, cyanobacteria had to evolve a variety of strategies circumventing this paradox allowing them to grow at the expense of N
2
, a ubiquitous source of nitrogen.
Effectiveness of an occupational health intervention program to reduce whole body vibration exposure: An evaluation study with a controlled pretest–post‐test design
Authors: Tiemessen Ivo J.H. , Hulshof Carel T.J. , Frings‐Dresen Monique H.W. 
Published: October 2009

AbstractBackgroundAn effective intervention program aiming to reduce whole body vibration (WBV) exposure at work will reduce the number of low back complaints in the near future.MethodsAn evaluation study with a controlled pretest–post‐test design. Nine companies and 126 drivers were included in the study. Cluster randomization on company level divided the drivers and their employers in an intervention group and a “care‐as‐usual” group. At baseline (T0) and intervention program was implemented and evaluated after 7 months (T1). The main outcome measure was WBV exposure. Process measures included knowledge, attitude, and (intended) behavior towards reduction of WBV exposure for the drivers and knowledge and WBV policy for the employers.ResultsAt T1, no significant reduction was found in WBV exposure within both groups compared with T0.ConclusionsProbably due to poor to moderate compliance, the intervention program was not effective in reducing the WBV exposure on group level but small reductions in WBV exposure are possible when intervention compliance is high. Am. J. Ind. Med. 52:943–952, 2009. © 2009 Wiley‐Liss, Inc.
Exploring social capital in rural settlements of an islander region in Greece
Authors: Zissi Anastasia , Tseloni Andromachi , Skapinakis Petros , Savvidou Maria , Chiou Mihaela 
Published: November 2009

AbstractThis paper reports on a large scale cross‐sectional study examining subjective perceptions of community social life held by a randomly selected sample of residents (n = 428) in all small rural settings (n = 89) of the region of North Aegean Sea. The notion of social capital was used as a conceptual tool in order to explore different aspects of the relational life of contemporary rural communities. This study has two aims: First to provide an account of rural residents' perceptions of village life in terms of interpersonal support, mutual aid, trust, social cohesion and community competence, and second to examine the suitability of the social capital notion within the specific cultural context. A combination of data collection procedures and a range of sources were employed, such as key informants, rural residents and researchers' field observations. The findings indicate that small farming communities of high devotion with deep roots and strong sense of belonging face severe demographic imbalance and experience low civic power given the limited links with external agents. The mainstream notion of social capital as an unconditionally beneficial factor is thus questioned. The findings call for revisiting its relevance across communities with varying capacities and needs. Copyright © 2009 John Wiley & Sons, Ltd.
Women ≥30 years of age with low grade squamous intraepithelial lesion (LSIL) have low positivity rates when cotested for high‐risk human papillomavirus: Should we reconsider HPV triage for LSIL in older women?
Authors: Thrall Michael J. , Smith Debora A. , Mody Dina R. 
Published: November 2009

AbstractHigh‐risk human papillomavirus (HR‐HPV) testing for colposcopy triage of low grade squamous intraepithelial lesion (LSIL) is not recommended because of high positive rates in young women. It remains unclear whether HR‐HPV testing may be useful for triage of older women. We compiled HR‐HPV data for women aged ≥30 years with LSIL for the period March 1, 2006 to February 28, 2008. Follow‐up cervical biopsy information was collected for the period March 1, 2006 to August 15, 2008. We used the Hybrid Capture II test performed on residual material from liquid‐based Pap tests. Of 735 women, 254 had HR‐HPV testing, and of these 144 had positive HR‐HPV results. Among women with positive HR‐HPV results 79 underwent biopsy (54.9%) and 11 had cervical intraepithelial neoplasia (CIN) 2 or 3 (13.9% of women with biopsy follow‐up). A total of 481 women did not undergo HR‐HPV testing, of whom 192 underwent biopsy (39.9%) and 11 had CIN 2 or 3 (5.7% of biopsied women [P = 0.04]). Among women who tested negative for HR‐HPV and had follow‐up biopsies, only one had a high grade lesion found (CIN 2). The overall HR‐HPV positive rate in tested women ≥30 years old with LSIL was 56.7% if women who had reflex HR‐HPV testing for ASC‐US are included. The HR‐HPV positive rate in residual material from Pap tests interpreted as LSIL was 63.8%. Among women ≥30 years of age with LSIL, CIN 2‐3 is significantly more likely in HR‐HPV positive women. Relatively few older women with LSIL test positive for HR‐HPV. Colposcopy triage using HR‐HPV may be justified in this population. Diagn. Cytopathol. 2010. © 2009 Wiley‐Liss, Inc.
Spontaneous infarction of pleomorphic adenoma: Report of a case simulating malignancy on fine‐needle cytology sample
Authors: Fulciniti Franco , Losito Nunzia Simona , Botti Gerardo , Manola Marco , Ionna Franco 
Published: November 2009

AbstractIschemic or hemorrhagic infarction has been described as an uncommon but possible complication of fine‐needle cytology sampling in numerous organs, more frequently the thyroid, the salivary glands, the breast, the lymph node, and the kidney. In these situations, infarction appears to be directly related to the vascular disturbances caused by needle sampling, though fine this latter might be. One case of a spontaneous infarction of a parotid pleomorphic adenoma in a 46‐year‐old lady is here described in which the cytopathologic findings, which were related to ischemic infarction, preceded fine‐needle cytology sampling and mimicked malignancy.The cytopathologic picture showed a quizzical mixture of necrosis and inflammation coupled to hyperplastic changes of the acinar cells, oncocytic metaplasia, and atypical squamous metaplasia of extreme degree simulating high‐grade epidermoid‐ or mucoepidermoid carcinoma. Due to the cytologically suggestive changes, a nerve‐sparing radical parotidectomy was performed. The differential diagnostic problems encountered in this case are discussed together to the possible medical–legal implications originating from such striking atypias as to closely simulate malignancy. Diagn. Cytopathol. 2010. © 2009 Wiley‐Liss, Inc.
Remarkable Reaction Rate and Excellent Enantioselective Direct α‐Amination of Aldehydes with Azodicarboxylates Catalyzed by Pyrrolidinylcamphor‐Derived Organocatalysts
Authors: Liu Pang‐Min , Chang Chihliang , Reddy Raju Jannapu , Ting Ying‐Fang , Kuan Hsuan‐Hao , Chen Kwunmin 
Published: November 2009

AbstractRemarkable reaction rate and excellent enantioselective direct α‐amination of unmodified aldehydes with various azodicarboxylates was catalyzed by pyrrolidinylcamphor organocatalyst 2a (5 mol‐%) to provide the desired aminated products with excellent chemical yields and high to excellent levels of enantioselectivity (up to >99 % ee) at 0 °C in CH2Cl2.
Synthesis of new compounds containing the pyrazolo[3,4‐b]pyridine‐3‐one subunit
Authors: Fadel S. , Suzenet F. , Hafid A. , Rakib E. M. , Khouili M. , Pujol M. D. , Guillaumet G. 
Published: November 2009

Abstract
magnified image A convenient route for the synthesis of pyrazolo[3,4‐b]pyridine‐3‐ones via condensation of 3‐amino‐1‐phenylpyrazolin‐5‐one with 4‐hydroxy‐6‐methylpyran‐2‐one is described. The pyrazolo[3,4‐b]pyridine‐3‐one isomers obtained were functionalized at 1‐, 4‐, or 6‐ position by different pharmacophore entities allowing the synthesis of new compounds with promising biological activities. J. Heterocyclic Chem., (2009).