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At least 1,027 records · Page 57Linked to original sources
PubMed2002

Development of microsatellite markers and comparative mapping for bovine chromosome 19.

Previous research has mapped an ovulation rate quantitative trait locus (QTL) to bovine chromosome 19. In an effort to enhance comparative mapping information and develop additional markers for refined QTL mapping, microsatellite markers were developed in a targeted approach. A bovine bacterial artificial chromosome (BAC) library was screened for loci with either known or predicted locations on bovine chromosome 19. An average of 6.4 positive BAC were identified per screened locus. A total of 10 microsatellite markers were developed for five targeted loci with heterozygosity of 7-83% in a sample of reference family parents. The newly developed markers were typed on reference families along with four previously mapped marker loci and used to create a linkage map. Comparison of locus order between human and cattle provides support for previously observed rearrangement. One of the mapped loci myotubularin related protein 4 (MTMR4) potentially extends the proximal boundary of a conserved linkage group.

Animals↗
PubMed2001

Temporal covariance analysis of first-pass contrast-enhanced myocardial magnetic resonance images.

In this paper a temporal covariance method designed to analyze a Magnetic resonance (MR) image sequence of myocardial perfusion is presented. This method is used to map the first-pass transit of a contrast agent (Gd-chelates) through the heart. A map of bolus transit delay is constructed pixel by pixel corresponding to a myocardial reference using a temporal covariance measure. The resulting covariance map is a parametric image representing regions with different temporal dynamics. The proposed method is evaluated in 14 patients with coronary artery disease and eight healthy volunteers. Under rest and stress, covariance method is able to reveal a perfusion defect in stenosed coronary-artery-related myocardium. Furthermore, the method presents the advantage of its easy implementation and real-time parametric map construction.

Analysis of Variance↗
PubMed2004

The Gene Ontology Annotation (GOA) Database: sharing knowledge in Uniprot with Gene Ontology.

The Gene Ontology Annotation (GOA) database (http://www.ebi.ac.uk/GOA) aims to provide high-quality electronic and manual annotations to the UniProt Knowledgebase (Swiss-Prot, TrEMBL and PIR-PSD) using the standardized vocabulary of the Gene Ontology (GO). As a supplementary archive of GO annotation, GOA promotes a high level of integration of the knowledge represented in UniProt with other databases. This is achieved by converting UniProt annotation into a recognized computational format. GOA provides annotated entries for nearly 60,000 species (GOA-SPTr) and is the largest and most comprehensive open-source contributor of annotations to the GO Consortium annotation effort. By integrating GO annotations from other model organism groups, GOA consolidates specialized knowledge and expertise to ensure the data remain a key reference for up-to-date biological information. Furthermore, the GOA database fully endorses the Human Proteomics Initiative by prioritizing the annotation of proteins likely to benefit human health and disease. In addition to a non-redundant set of annotations to the human proteome (GOA-Human) and monthly releases of its GO annotation for all species (GOA-SPTr), a series of GO mapping files and specific cross-references in other databases are also regularly distributed. GOA can be queried through a simple user-friendly web interface or downloaded in a parsable format via the EBI and GO FTP websites. The GOA data set can be used to enhance the annotation of particular model organism or gene expression data sets, although increasingly it has been used to evaluate GO predictions generated from text mining or protein interaction experiments. In 2004, the GOA team will build on its success and will continue to supplement the functional annotation of UniProt and work towards enhancing the ability of scientists to access all available biological information. Researchers wishing to query or contribute to the GOA project are encouraged to email: goa@ebi.ac.uk.

Animals↗
PubMed2005

Handheld computers in veterinary medical education: a view from human medical education.

Handheld computers are widely used in clinical practice, and their use in both human medical education and veterinary medical education is increasing, especially, for the former, in activities involving point-of-care access. This article references the insights that can be obtained from the usage and activities that are gaining a strong foothold in human medical education. Handheld computer technology gives students access to a large and changing knowledge base for clinical practice, especially when they are geographically dispersed. Differences in use between education and practice largely relate to the importance clinicians place on patient information. Student use focuses on progress mapping and ready access to clinical reference material. Suggestions are made for future use in medical education.

Computer-Assisted Instruction↗
PubMed1999

Mutational analysis of phospholipase A2A: a positional candidate susceptibility gene for bipolar disorder.

Evidence for the involvement of genetic factors in the pathogenesis of bipolar affective disorder is now well established. However, the mode of inheritance is non-mendelian and this makes the identification of susceptibility loci difficult. A short-cut to localisation of a disease gene for an oligogenic/multifactorial disorder such as bipolar disorder may come from observation of cosegregation with a monogenic trait. We have described a family (pedigree 324) in which there was cosegregation of major affective disorder and Darier's disease, a dominantly inherited skin disorder, and hypothesised that this reflects genetic linkage between genes involved in these disorders. Genetic mapping studies have placed the locus for Darier's disease on chromosome 12q23-q24. We conducted subsequent linkage studies (1995) upon 45 bipolar families (without Darier's disease). These results showed some evidence in favour of linkage with chromosome 12q markers with maximum evidence at a trinucleotide repeat marker within intron 1 of the phospholipase A2A (PLA2A) gene. Evidence for linkage was more significant when analysing the 22 families comprising the Cardiff centre sample, which were expected to be most genetically similar to pedigree 324.

Adult↗
PubMed1999

Five new linkage groups in the canine linkage map.

Nineteen further polymorphic loci were typed on the DogMap reference panel. Five new linkage groups were identified. Additionally, five markers were added to earlier defined linkage groups. Three of the new linkage groups contain markers mapped earlier to specific dog chromosomes by physical mapping. These results make a further contribution to the canine genome map and provides more linkage groups physically assigned to known chromosomes.

Animals↗
PubMed1995

Alignment of the PiGMaP and USDA linkage maps of porcine chromosomes 2 and 5.

The PiGMaP and USDA porcine linkage maps for chromosomes 2 and 5 have been aligned by typing five USDA microsatellite markers from chromosomes 2 and 4 from chromosome 5 on the PiGMaP reference families. The markers in the two maps can be successfully aligned except for Sw395 on chromosome 2, which is the end-most marker in the USDA map 22 cM remote from the next marker, but which maps to a more central location and in the same position as Sw776 in the PiGMaP families. The mapping of four additional chromosome 5 markers has enabled amalgamation of the two previously separate PiGMaP linkage groups assigned to chromosome 5 and has more than doubled the length of its map. The USDA map of chromosome 5 is considerably shorter than the revised PiGMaP version, particularly between DAGK and Sw1071, where the corresponding lengths are 9 cM versus 33 cM.

Animals↗
PubMed1991

Dominant male sterility in mice caused by insertion of a transgene.

While examining a series of transgenic mouse lines carrying the HCK protooncogene, we encountered one line in which males hemizygous for the transgene were sterile. The sterile males mated normally but failed to impregnate females. Light and electron microscopy revealed that spermatogenesis proceeds normally until nuclear condensation, which occurs but gives rise to a variety of abnormally shaped nuclei. Expression of the transgene was not detectable. Thus, the insertion itself probably caused the abnormal phenotype by disrupting a gene (or genes) important in spermatogenesis. The mutation is genetically dominant, causing an abnormal phenotype even though the sterile mice carry an ostensibly normal counterpart of the disrupted locus. The mutant phenotype is completely penetrant only in some genetic backgrounds, suggesting a modifying influence from a second locus. Junctions between the inserted transgene and adjoining cellular DNA were cloned, allowing us to confirm the heterozygous nature of the genetic disruption and to detect and associated deletion. We have designated the mutation Lvs (lacking vigorous sperm) and presume that it may define a previously undescribed locus important in spermatogenesis.

Animals↗
PubMedDate not supplied

A neurocomputational approach to delusions.

Neuronal networks process information in parallel. The cortex can be viewed as a computational surface that creates and maintains dynamic maps of representations of important sensorimotor and higher-level aspects of the environment and the organism. Its functions can be modeled by a particular type of neural network, the self-organizing feature map. Most importantly, representations of information in the cortex and in these maps have been demonstrated to change dynamically according to the salience and frequency of the input. This feature is referred to as neuroplasticity. The fact that general operational characteristics of computational maps in the cortex can be fine-tuned according to specific processing needs is referred to as neuromodulation. Within this framework of cortical maps and their computational models, acute and chronic delusions are discussed in terms of neuromodulation and neuroplasticity. This neurocomputational approach provides new insights into the phenomena in question, is detailed enough to allow empirical testing, and has therapeutic implications.

Brain↗
PubMed1990

Progress towards the isolation and characterization of the genes causing neurofibromatosis.

The locus for the gene causing neurofibromatosis type 1 (NF1) was bracketed to a region on the long arm of chromosome 17 by means of genetic linkage analysis. When the limits of resolution for genetic mapping were reached physical mapping methods were used to map the NF1 gene precisely, with reference to translocation breakpoints in NF1 affected individuals who harboured constitutional chromosomal translocations on chromosome 17. The region of DNA located between two translocation breakpoints has been cloned and a DNA sequence encoding a 11-13 kb mRNA identified. That this sequence shows deletions and point mutations in NF1 affected individuals and not in normal controls provides strong evidence that it is indeed the NF1 gene. The genetic defect in NF2 has been mapped to chromosome 22 by studies of chromosomal loss in tumours associated with this disease. Subsequent linkage analysis of NF2 pedigrees has confirmed this location. DNA markers that bracket the NF2 locus to a region of 5-10 Mb have been identified.

Chromosome Mapping↗
PubMedDate not supplied

Two-dimensional map of human brain proteins.

Samples of human brain from the parietal cortex lobe were analyzed by two-dimensional gel electrophoresis, using immobilized pH gradient strips covering the various pH regions. The protein spots were visualized with colloidal Coomassie blue stain and identified by matrix-assisted laser desorption/ionization mass spectrometry. Approximately 400 spots were identified, corresponding to 180 different brain proteins. The list of identified proteins includes a large number of structural proteins and of enzymes or enzyme subunits with various catalytic activities. The majority of proteins are localized in the cytoplasma and in mitochondria. The two-dimensional map may be useful as a reference database to study changes in the protein level caused by various disorders, such as Alzheimer's disease, major depression and schizophrenia.

Animals↗
PubMed2004

External and body-centered frames of reference in spatial memory: evidence from touch.

The study reports independent effects of external and body-centered reference cues on spatial coding of an irregular sequence of haptic locations. The aim was to investigate the nature of spatial coding by using a modality that does not provide distal cues routinely. Our method isolates and combines body-centered and external spatial reference cues for irregularly placed locations, scanned along a raised-line route. Disrupting body-centered reference for the locations, by orienting the map differently to the body in the test phase than in the presentation phase, doubled errors in positioning the locations along the route in recall. Adding external reference, by giving instructions to use a surrounding frame for reference when body-centered coding was disrupted, reduced errors to near baseline (no-rotation) levels. Adding external reference cues to intact (not displaced) body-centered reference halved errors, as compared with the baseline. The results are consistent with the hypothesis that accurate spatial coding is determined by the congruence of potential reference cues from diverse sources. The new findings suggest that external and body-centered reference cues have independent additive effects on spatial coding. The sequence of locations had a significant effect in all the reference conditions, suggesting the additional use of fortuitous but distinctive local touch cues on the route. The discussion considers theoretical and practical implications of the results.

Adolescent↗
PubMed1999

A case of catheter ablation of accessory atrioventricular connection between the right atrial appendage and right ventricle guided by a three-dimensional electroanatomic mapping system.

A 12-year-old girl was referred to our institution because of frequent episodes of AV reciprocating tachycardia. Ventriculoatrial and AV intervals were relatively long along the tricuspid annulus. Earliest retrograde atrial activation was recorded at the mid-portion of the right atrial appendage, 7 mm from the tricuspid annulus. The CARTO electroanatomic mapping system was very useful for providing accurate spatial orientation of the accessory connection. Complete ablation of this connection required multiple radiofrequency energy applications over an extensive area because of the multicomponent structure of the connection.

Atrioventricular Node↗
PubMed1993

DNA polymorphisms in the human tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region in relation to glucose and insulin responses.

The feasibility of disease association studies using polymorphic DNA markers in the tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region was indicated by a high degree of linkage disequilibrium found in haplotypes. Haplotypes were resolved in the parents from Scandinavian nuclear families by studying the segregation of eight DNA polymorphisms. Comparison of observed vs expected frequencies of haplotypes, as well as pairwise measures of linkage disequilibrium, indicated a high degree of linkage disequilibrium. Five restriction fragment length polymorphisms linked to the tyrosine hydroxylase/insulin/insulin growth factor II region of chromosome 11 were investigated in relation to Type 2 (non-insulin-dependent) diabetes mellitus, and to glucose and insulin responses to glucose infusion in healthy subjects. No significant differences in genotype frequencies between Type 2 diabetic (n = 53) and healthy subjects (n = 106) were found. A significant association (p < 0.001) was initially found between genotypes defined by a PstI polymorphism located 5' of the tyrosine hydroxylase gene and the early glucose response to a standardized glucose infusion test in healthy subjects. However, a follow-up study of 112 healthy individuals failed to confirm this finding.

Alleles↗
PubMed1992

Mapping of bovine markers CYP21, PRL, and BOLA DRBP1 by genetic linkage analysis in reference pedigrees.

We have analyzed DNA from 13 bovine reference pedigrees using primers specific for microsatellite markers derived from the 21-steroid hydroxylase (CYP21) and prolactin (PRL) genes and the leukocyte antigen (BOLA DRBP1) pseudogene. Linkage was demonstrated between PRL and BOLA DRBP1 (theta = 0.05; Z = 19.6), cyp21 and PRL (theta = 0.13; Z = 6.8), and BOLA DRBP1 and CYP21 (theta = 0.17; Z = 10.4). These results suggest an order BOLA DRBP1-PRL-CYP21, although in a multilocus analysis the alternative order PRL-BOLA DRBP1-CYP21 was also possible. The data confirm and extend the previously established syntenic relationship between these markers on bovine chromosome 23 and provide points of anchorage for further linkage studies in the reference pedigrees described.

Animals↗
PubMed2000

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hypermethylated. Inactivation of the FMR1 promoter and absence of the FMR1 protein are the likely cause of the syndrome. By using the bisulfite protocol of the genomic sequencing method, we have determined the methylation patterns in this region on single chromosomes of healthy individuals and of selected premutation carriers and FRAXA patients. In control experiments with unmethylated or M- Sss I-premethylated DNAs, this protocol has been ascertained to reliably detect all cytidines or 5-methylcytidines as unmethylated or methylated nucleotides, respectively. Analyses of the DNA from FRAXA patients reveal considerable variability in the lengths of the 5'-(CGG)(n)-3' repeats and in the levels of methylation in the repeat and the 5'-UTR. In one patient (OEl) with high repeat length hetero-geneity ( n = 15 to >200), shorter repeats (n = 20-80) were methylated or unmethylated, longer repeats ( n = 100-150) were often completely methylated, but one repeat with n = 160 proved to be completely unmethylated. This type of methylation mosaicism was observed in several FRAXA patients. In healthy females, methylated 5'-CG-3' sequences were found in some repeats and 5'-UTRs, as expected for the sequences from one of the X chromosomes. The natural FMR1 promoter is methylation sensitive, as demonstrated by the loss of activity in transfection experiments using the unmethylated or M- Sss I-premethylated FMR1 promoter fused to the luciferase gene as an activity indicator.

5' Untranslated Regions↗
PubMedDate not supplied

[Variations in the NP protein of the influenza virus detected by peptide mapping and polyacrylamide gel electrophoresis].

NP proteins of 19 reference and 42 epidemic strains of influenza A virus were analysed for their mobility in polyacrylamide gel electrophoresis and distribution of tryptic peptides. The strains could be divided into 4 groups by differences in their electrophoretic mobility, and into 9 groups according to reproducible differences of several hydrophilic peptides determined by peptide mapping.

Animals↗