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  • 1
    Keywords: DISEASE ; GENE ; GENOME ; MUTATIONS ; REGULATOR ; ALIGNMENT ; NUCLEAR FAMILIES ; SNP DATA ; CATARACT
    Abstract: Massively parallel ("next generation") DNA sequencing (NGS) has quickly become the method of choice for seeking pathogenic mutations in rare uncharacterized monogenic diseases. Typically, before DNA sequencing, protein-coding regions are enriched from patient genomic DNA, representing either the entire genome ("exome sequencing") or selected mapped candidate loci. Sequence variants, identified as differences between the patient's and the human genome reference sequences, are then filtered according to various quality parameters. Changes are screened against datasets of known polymorphisms, such as dbSNP and the 1000 Genomes Project, in the effort to narrow the list of candidate causative variants. An increasing number of commercial services now offer to both generate and align NGS data to a reference genome. This potentially allows small groups with limited computing infrastructure and informatics skills to utilize this technology. However, the capability to effectively filter and assess sequence variants is still an important bottleneck in the identification of deleterious sequence variants in both research and diagnostic settings. We have developed an approach to this problem comprising a user-friendly suite of programs that can interactively analyze, filter and screen data from enrichment-capture NGS data. These programs ("Agile Suite") are particularly suitable for small-scale gene discovery or for diagnostic analysis.
    Type of Publication: Journal article published
    PubMed ID: 23554237
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  • 2
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Advances in Space Research 1 (1981), S. 43-55 
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Advances in Space Research 9 (1989), S. 15-22 
    ISSN: 0273-1177
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 0378-1119
    Keywords: API ; Gap junction ; embryo ; immediate early gene ; intron ; membrane channels ; promoter ; transcription initiation
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-0800
    Source: Springer Online Journal Archives 1860-2000
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Medicine
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1106
    Keywords: X-cell ; Y-cell ; Contrast sensitivity ; Spatial resolution ; Eccentricity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We used quantitative electrophysiological techniques to study the spatial properties of single units recorded extracellularly in the lateral geniculate and perigeniculate nuclei of the adult pigmented ferret. All neurones examined had approximately circular receptive fields, whose central regions gave responses antagonistic to those elicited from the surrounds. We presented sinusoidally modulated grating patterns, either drifting or counterphased, to obtain spatial frequency tuning curves, contrast sensitivity functions and to assess linearity or non-linearity of each neurone's response. In the ferret, as in other species, two types of lateral geniculate neurone could be distinguished, and we have termed these X-cells and Y-cells; both groups responded briskly to visual stimulation but X-cells gave sustained and linear responses whereas Y-cells responded transiently and non-linearly. Perigeniculate cells gave linear responses. For neurones in the lateral geniculate and perigeniculate nuclei, both the limit of spatial resolution (‘acuity’) and optimum spatial frequency were inversely related to receptive field eccentricity and the diameter of the receptive field centre. We recorded geniculate neurones in the ferret with acuities up to 3 cycles deg-1 and contrast sensitivities up to 114, values that are lower than those found previously for many geniculate cells in the cat.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The elemental compositions of chloragosome “granules” in the earthworm Lumbricus rubellus living in non-polluted and heavily Zn-polluted soils were determined by fully quantitative electron probe X-ray microanalysis. P, Ca, S and Zn were the major elemental components of the chloragosomes. The in vivo accumulation of Zn by the chloragosomes was accompanied by diminished chloragosomal Ca concentrations. Zn was apparently bound by at least two ligand pools (Pool 1=uncharacterised; Pool 2=P-containing ligands, binding approximately 45% and 55% of the Zn, respectively) in the “control” chloragosomes. In Zn-contaminated chloragosomes, most (∼70%) was bound by P-containing ligand(s) but some (〈1%) was also bound by S-containing ligands. It is suggested that the sequestration of Zn in chloragosomes results in the detoxification of the metal by accumulative immobilisation.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1041
    Keywords: Key words Extremely fast absorption ; Slow elimination ; Tolerability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract Objective: The pharmacokinetics of the long-acting β2-agonist formoterol fumarate, which is a racemate of the (S,S)- and (R,R)-enantiomers were evaluated in 12 healthy (eight male, four female) volunteers after a single inhaled high dose of 120 μg of formoterol fumarate. The tolerability and safety were also assessed. Methods: Each volunteer inhaled the single 120-μg dose through the Aerolizer device within 2–5 min, using ten 12-μg dry powder capsules for inhalation. Formoterol, i.e., the sum of both enantiomers, was determined in plasma over 24 h, whereas the separate enantiomers were determined in urine over 48 h. Incidence, seriousness and severity of adverse experiences, electrocardiogram (ECG), including the corrected QT interval (QTc) calculation, systolic blood pressure, heart rate, and plasma potassium levels were recorded. Results: In nine of the 12 volunteers, the peak plasma concentration of formoterol was observed already at 5 min after inhalation. The absorption kinetics were complex, as depicted by multiple peaks or shoulders within 0.5–6 h after inhalation. Mean with (SD; n = 12) of maximum concentration (Cmax) and area under the curve (AUC) of formoterol in plasma were 266 (108) pmol · l−1 and 1330 (398) pmol · h · l−1, respectively. The moderate inter-individual variability in systemic exposure of formoterol reflects the homogeneous pharmacokinetics of the drug. A predominant slow elimination of formoterol from plasma with a mean half-life (t1/2) of 10 h was demonstrated. Assuming linear kinetics in plasma suggested by urinary data, the steady-state trough plasma levels of formoterol for a b.i.d. dosing regimen are predicted to amount to 20% of Cmax. In urine, mean with (SD; n = 10) of the amount excreted over 48 h was 3.61 (0.89)% of dose for the pharmacologically active (R,R)-enantiomer and 4.80 (1.33)% of dose for the (S,S)-enantiomer. The terminal half-lives calculated from the excretion rate-time curves, i.e., 13.9 h and 12.3 h for the (R,R)- and (S,S)-enantiomer, respectively, confirm the slow elimination of formoterol from plasma. The dose inhaled was 10 times the most frequently recommended dose (12 μg) and 5 times the highest recommended dose (24 μg). Ten of 12 subjects experienced mild and transient nervousness. Pulse readings demonstrated the maximum mean increase of 25.8 beats · min−1 at 6 h. The mean maximum QTc increase was 25 msec at 6 h. Pulse and QTc values returned to baseline or close to baseline values at 24 h or before. Potassium levels in plasma decreased in eight out of 12 subjects; the lowest mean value was 3.53 mmol · l−1 at 2 h post-dose. The lowest individual potassium measurement was 2.95 mmol · l−1 between 15 min and 6 h. By 8 h post-dose all values had returned to within the normal ranges. Conclusions: The extremely fast appearance of formoterol in plasma shows the predominance of airways absorption shortly after inhalation. Due to a terminal elimination half-life of about 10 h, sustained systemic concentrations of formoterol are predicted for a twice daily treatment regimen without noteworthy accumulation. The excreted amounts in percent of dose of the enantiomers in urine and the enantiomer ratio are similar to data reported previously after lower doses and suggest linear kinetics for doses between 12 μg and 120 μg of formoterol fumarate. The expected side effects on heart rate, QTc interval, and plasma potassium were small and had no clinical consequences in spite of the very high dose of 120 μg (5 to 10 times the recommended therapeutic dose of Foradil). It should be noted that the impact of high doses may be greater in patients. Nevertheless these findings provide reassurance on the safety margin of formoterol after accidental and intentional overdosing.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1084
    Keywords: Magnetic resonance imaging ; Osteoid osteoma ; Osteoblastoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We assessed the value of contrast-enhanced fat-suppressed MRI on nine patients with osteoid osteomas and osteoblastomas. The results were compared with plain films, bone scintigraphy, computed tomography (CT) and pathological specimens. On contrast-enhanced fat-suppressed T1-weighted images the non-calcified nidi showed homogeneous enhancement, whereas the calcified lesions showed a ring enhancement sign that was proportional in intensity to the extent of the remaining part of the vascularized nidus. The degree of bone marrow and soft tissue enhancement was relative to the size and reactive inflammatory changes of the lesions. Although CT was diagnostic in most of the cases and more specific to show the calcified lesions, MRI was confirmatory in one case. We concluded that, although CT is the primary diagnostic investigation in osteoid osteomas, MRI can be reserved for equivocal cases.
    Type of Medium: Electronic Resource
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