Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Keywords: Life sciences ; Bioinformatics ; Life sciences ; Bioinformatics ; Springer eBooks
    Description / Table of Contents: From the Phenotype to the Genotype via Bioinformatics -- Production and Analytic Bioinformatics for Next-Generation DNA Sequencing -- Analyzing the Metabolome -- Statistical Perspectives for Genome-Wide Association Studies (GWAS) -- Bioinformatics Challenges in Genome-Wide Association Studies (GWAS) -- Studying Cancer Genomics through Next-Generation Sequencing and Bioinformatics -- Using Bioinformatics Tools to Study the Role of microRNA in Cancer -- Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data -- Bioinformatics Approach to Understanding Interacting Pathways in Neuropsychiatric Disorders -- Pathogen Genome Bioinformatics -- Setting Up Next-Generation DNA Sequencing in the Medical Laboratory -- Managing Incidental Findings in Exome Sequencing for Research -- Approaches for Classifying DNA Variants Found by Sanger Sequencing in a Medical Genetics Laboratory -- Designing Algorithms for Determining Significance of DNA Missense Changes -- DNA Variant Databases: Current and Future Directions -- Natural Language Processing Systems in Biomedicine: A Unified System Architecture Overview -- Candidate Gene Discovery and Prioritization in Rare Diseases -- Computer Aided Drug Designing
    Abstract: In Clinical Bioinformatics, Second Edition, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. Recent developments in omics, such as increasingly sophisticated analytic platforms allowing changes in diagnostic strategies from the traditional focus on single or small number of analytes to what might be possible when large numbers or all analytes are measured, are now impacting patient care. Covering such topics as gene discovery, gene function (microarrays), DNA sequencing, online approaches and resources, and informatics in clinical practice, this volume concisely yet thoroughly explores℗ this cutting-edge subject.℗ Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. ℗ Authoritative and easily accessible, Clinical Bioinformatics, Second Edition serves as an ideal guide for scientists and health professionals working in genetics and genomics
    Pages: XI, 326 p. 56 illus., 53 illus. in color. : online resource.
    Edition: 2nd ed. 2014.
    ISBN: 9781493908479
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1432-1106
    Keywords: Substantia nigra ; Serotonin ; Autoreceptor ; Dopamine release ; Nigrostriatal ; Rat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Extracellular single unit recordings were obtained from antidromically identified nigrostriatal dopaminergic neurons in anesthetized rats to determine the effects of dorsal raphé stimulation on the somatodendritic excitability of substantia nigra dopaminergic neurons. Stimulation of the dorsal raphé with a brief train of pulses delivered 7–2 ms prior to the neostriatal-evoked antidromic response significantly reduced the proportion of neostriatal-evoked antidromic responses that consisted of both initial segment and somatodendritic components without significantly altering the neostriatal-evoked post-stimulus inhibitory period. Raphé stimulation alone facilitated post-stimulus neuronal firing in almost half of the cells examined. The raphé-induced decrease in somatodendritic excitability was blocked by the serotonin antagonist, metergoline (0.5–2.0 mg/kg, i.v.), without significantly affecting the rate or pattern of spontaneous activity. The tryptophan hydroxylase inhibitor, parachlorophenylalanine (400 mg/kg, i.p. for three consecutive days), abolished the decrease in somatodendritic excitability following raphé stimulation which could be re-instated by intravenous administration of 5-HTP. The dopamine antagonists haloperidol (25–100 μg/kg, i.v.) and sulpiride (10–30 mg/kg, i.v.) also blocked the effects of dorsal raphé stimulation on somatodendritic invasion. These data suggest that in vivo, serotonin liberated from raphé-nigral terminals facilitates the release of dopamine from nigrostriatal dendrites resulting in a local, autoreceptor-mediated reduction in somatodendritic excitability without affecting the spontaneous firing rate and excitability of the neuron as a whole.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1432-1041
    Keywords: Key words Cytochrome P450 3A4 ; Cyclosporin ; Transplant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract Objective: Cytochrome P 450 3A4 (CYP3A4) plays a vital role in the oxidative metabolism of many xenobiotics. Some recent reports have provided circumstantial evidence in support of an association between a genetic polymorphism (A→G) in the 5′-flanking region (−290) of CYP3A4 and altered enzyme activity. We sought to determine whether genotyping patients for CYP3A4-G could assist with the dose optimisation of drugs metabolised by this system. Methods: Normal subjects and renal-transplant patients receiving cyclosporin for immune modulation were genotyped for the CYP3A4-G variant. A surrogate for cyclosporin clearance was estimated from the ratio of the cyclosporin dose, normalised for body weight and the corresponding trough concentration. The association between genotype and clearance was examined in patients who received twice-daily doses of cyclosporin and who were not on concurrent medication known to modify CYP3A4 function. Results: The allelic frequencies of the CYP3A4-G variant were estimated to be 2.6% and 3% in transplant patients and normal subjects, respectively. The median cyclosporin pseudo-clearance of transplant patients with wild-type CYP3A4 was 0.90 l/h/kg (range: 0.35–3.8 l/h/kg; n=86), whereas the corresponding value for the five patients heterozygotic for the CYP3A4-G variant was 0.71 l/h/kg (range 0.35–0.91 l/h/kg). The distribution of the pseudo-clearance according to genotype was not found to be significant according to a Fisher's exact test (P=0.15). Conclusion: Genotyping for the CYP3A4-G polymorphism is unlikely to assist cyclosporin dose selection in transplant patients.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of the UBE3A gene, and nearly all are predicted to give rise to truncated E6-AP ligases. Here, we describe two AS patients with dissimilar phenotypes. At the molecular level, they are both nondeleted, do not display uniparental disomy, and have normal imprint patterns. One has the typical AS phenotype and carries the previously reported 1344delAG de novo mutation involving a functionally significant region of UBE3A. The other expresses an atypical phenotype in that she has less severe ataxia, no inappropriate laughing, or epilepsy, and her EEG was normal at an early age. A 14-bp deletion in the 3’ untranslated region of exon 16 (3’UTRdel14) adjacent to the poly(A) signal was identified. Further investigation revealed that the DNA change was a neutral polymorphism. Haplotype analysis indicated that both the AS patient and her normal sibling had inherited the same maternal UBE3A gene and its 5’ flanking region. Although the 14-bp change has no functional significance, it assists with counseling to determine future risks of recurrence in this family.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Human chromosome 6 has been subdivided by chromosome microdissection into 14 unique regions. Following microdissection, polymerase chain reaction (PCR) amplification of dissected DNA was performed using a universal primer to generate subregion-specific probes that provided complete coverage of chromosome 6. All 16 microdissections have been regionally assigned along chromosome 6 by fluorescence in situ hybridization (FISH) using biotin-labeled dissected DNA hybridized to G-banded normal metaphase chromosomes. These probes can be used as region-specific paints to generate unique “bar codes” and for analysis of chromosome alterations involving chromosome 6 that are unidentifiable by conventional banding analysis.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Putative prostate cancer susceptibility loci have recently been identified by genetic linkage analysis on chromosomes 1q24–25 (HPC1), 1q44.2–43 (PCaP), and Xq27–28 (HPCX). In order to estimate the genetic linkage in Icelandic prostate cancer families, we genotyped 241 samples from 87 families with eleven markers in the HPC1 region, six markers at PCaP, and eight at HPCX. Concurrently, we assessed allelic imbalance at the HPC1 and PCaP loci in selected tumors from the patients. For each of the candidate regions, the combined parametric and non-parametric LOD scores were strongly negative. Evidence for linkage allowing for genetic heterogeneity was also insignificant for all the regions. The results were negative irrespective of whether calculations were performed for the whole material or for a selected set of early age at onset families. The prevalence of allelic imbalance was relatively low in both the HPC1 (0%–9%) and PCaP (5%–20%) regions and was not elevated in tumors from positively linked families. Our studies indicate that the putative cancer susceptibility genes at chromosomes 1q24–25, 1q44.2–43, and Xq27–28 are unlikely to contribute significantly to hereditary prostate cancer in Iceland and that selective loss of the HPC1 and PCaP loci is a relatively rare somatic event in prostate cancers.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genetic markers that might contribute to the making of an elite athlete have not been identified. Potential candidate genes might be found in the renin-angiotensin pathway, which plays a key role in the regulation of both cardiac and vascular physiology. In this study, DNA polymorphisms derived from the angiotensin converting enzyme (ACE), the angiotensin type 1 receptor (AT1) and the angiotensin type 2 receptor (AT2) were studied in 64 Australian national rowers. Compared with a normal population, the rowers had an excess of the ACE I allele (P〈0.02) and the ACE II genotype (P=0.03). The ACE I allele is a genetic marker that might be associated with athletic excellence. It is proposed that the underlying mechanism relates to a healthier cardiovascular system.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Some types of nondeletional heterocellular hereditary persistence of fetal hemoglobin (HPFH) appear to be caused by mutations in the β globin gene cluster near the γ globin genes, while in other cases the condition is associated with a gene or genes outside the β globin gene complex. We have used DNA probes for chromosome 11 markers to localize the HPFH determinant in a large Australian kindred with nondeletional heterocellular HPFH. In 13 of the 58 family members studied the Hb F levels are increased to between 1.8% and 7.9%, the Hb F being composed predominantly of Aγ chains. All family members were typed for restriction fragment length polymorphisms detected by probes from the β globin gene complex, and the nearby genetic markers D11S12, INS, and HRAS. Linkage analysis showed HPFH is closely linked to the β globin gene cluster (confidence limits of 0,0.0-0.19), D11S12 (0, 0.0-0.23) and the insulin gene (0,0.0-0.11). These data and the γ chain composition are consistent with HPFH in this family being caused by a mutation within the β globin gene cluster.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Interstitial cytogenetic deletions involving the paternally derived chromosome 15q11–13 have been described in patients with the Prader-Willi syndrome (PWS). We report a child with PWS and a de novo unbalanced karyotype −45,XY,−9,−15,+der(9)t(9;15)(q34;q13). Molecular studies with the DNA probe pML34 confirmed that only a single Prader Willi critical region (PWCR: 15q11.2-q12) copy was present. Hybridisation of patient and parental DNA with the multi-allelic probe CMW1, which maps to pter-15q13, showed that the chromosome involved in the translocation was paternal in origin. This is the first example of a paternally-derived PWCR allele loss caused by an unbalanced translocation that has arisen de novo.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two highly conserved forms of cellular retinoic acid binding protein (CRABP-I and CRABP-II) have been described, and one, CRABP-II, is highly expressed in human skin. We have utilized a 10-kb fragment containing the human CRABP-II (hCRABP-II) gene (isolated from a human genomic library) to localize hCRABP-II to human chromosome 1 band q21 by fluorescence in situ hybridization. Localization to 1q was confirmed by hybridization of a hCRABP-II cDNA clone against a human-mouse hybrid cell line containing a t(1;6)(q21;q13) translocation chromosome. The hCRABP-II gene is therefore localized to a band known to contain several other genes that are expressed in the context of epidermal differentiation, including profilaggrin, loricrin, involucrin, and calcyclin.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...