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  • 1
    Digitale Medien
    Digitale Medien
    The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia (1999)
    [s.l.] : Nature America Inc.
    Nature genetics 21 (1999), S. 169-175 
    Details
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Diamond–Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we ...
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1038/5951
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  • 2
    Digitale Medien
    Digitale Medien
    Fine mapping of the constitutional translocation t(11;22)(q23;q11) (2000)
    Springer
    Human genetics 〈Berlin〉 106 (2000), S. 506-516 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract. Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution mapping of the t(11;22)(q23;q11) breakpoint. We have localised the breakpoint, by using fluorescence in situ hybidisation (FISH) walking, to a region between D11S1340 and WI-8564 on chromosome 11, and D22S134 and D22S264 on chromosome 22. We report the isolation of a bacterial artificial chromosome (BAC) clone spanning the breakpoint in 11q23. We have narrowed down the breakpoint to an 80-kb sequenced region on chromosome 11 and FISH analysis has revealed a variation of the breakpoint position between patients. In 22q11, we have sequenced two BACs (BAC2280L11 and BAC41C4) apparently mapping to the region; these contain low copy repeats (LCRs). Southern blot analysis with probes from BAC2280L11 has revealed different patterns between normal controls and translocation carriers, indicating that sequences similar/identical to these probes flank the translocation breakpoint. The occurrence of LCRs has previously been associated with genomic instability and "unclonable" regions. Hence, the presence of such repeats renders standard translocation breakpoint cloning techniques ineffective. Thus, we have used high resolution fiber-FISH to study this region in normal and translocation cases by using probes from 22q11, LCRs and 11q23. We demonstrate that the LCR containing the gap in 22q11 is probably substantially larger than the previous estimates of 100 kb. Using fiber-FISH, we have localised the breakpoint in 22q11 to approximately 20–40 kb from the centromeric border of the LCR (i.e. the telomeric end of AC006547) and have confirmed the breakpoint position on 11q23.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390000287
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  • 3
    Digitale Medien
    Digitale Medien
    The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17 (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 340-345 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract Full exon-intron structures are presented for the NIK serine/threonine protein kinase gene and a novel gene termed C17orf1. By in situ hybridisation and radiation hybrid mapping, a cosmid (cDD-Z) that contains regions of both of these genes has been localised between markers D17S800 and D17S791 at chromosome 17q21. The two genes are thus positional candidates for the mutant locus underlying frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), a disease for which NIK is also a good biological candidate. Using exon-intron maps, a genomic DNA sequencing based mutation screen has been performed for the NIK and C17orf1 genes in a chromosome 17-linked FTDP-17 pedigree. Two silent single-base variations were detected in C17orf1. No alterations were restricted to DNA samples from patients, thus excluding the C17orf1 and NIK genes as likely sites of mutation FTDP-17.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050827
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  • 4
    Digitale Medien
    Digitale Medien
    Two mutations within the coding sequence of the phenylalanine hydroxylase gene (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 300-304 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Two previously unidentified mutations at the phenylalanine hydroxylase locus were found during a study of the relationship between genotype and phenotype in phenylketonuria and hyperphenylalaninemia. One mutation eliminates the BamHI site in exon 7 and the other eliminates the HindIII site in exon 11 of the phenylalanine hydroxylase gene. They were suspected because of deviating restriction fragment patterns and confirmed by amplification, via the polymerase chain reaction, of exon 7 and exon 11, respectively, followed by digestion with the appropriate restriction enzyme. Direct sequencing of amplified mutant exon 7 revealed a G/C to T/A transversion at the first base of codon 272, substituting a GGA glycine codon for a UGA stop codon. Direct sequencing of amplified mutant exon 11 revealed a deletion of codon 364, a CTT leucine codon. The exon 7 mutation can be expected to result in a truncated protein and the exon 11 mutation in the elimination of an amino acid in the catalytic region of the enzyme. A patient who is a compound heterozygote for these two mutations has classical phenylketonuria. It is concluded that each of the two mutations leads to a profound loss of enzymatic activity. The segregation of these mutations with disease alleles in 4 and 2 families, respectively, supports the hypothesis that multiple mutations at the phenylalanine hydroxylase locus explain the variable phenylalanine tolerance in patients with phenylalanine hydroxylase deficiency.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00206750
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  • 5
    Digitale Medien
    Digitale Medien
    Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 395-400 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary A nonsense mutation at the CpG-site in the codon for Arg(169) in the gene for hypoxanthine phosphoribosyltransferase (hprt) was identified by genomic polymerase chain reaction (PCR) and DNA sequencing in cultured fibroblasts from two brothers with Lesch Nyhan's syndrome. The recurrence of mutation at this CpG-site in several unrelated Lesch-Nyhan families suggests that deamination of 5-methylcytosine is a possible mechanism for mutagenesis. The level of hprt-mRNA in the fibroblasts of the patients was similar to that in healthy controls, whereas hprt-enzyme activity was not detectable. The mutation in this family was also identified in five female relatives and prenatally in a male fetus. Unexpectedly, results from hair follicle analyses and fibroblast selection studies in 8-azaguanine and 6-thioguanine medium showed a non-carrier phenotype in three of the female heterozygotes, whereas X-inactivation mosaicism was demonstrated in one heterozygote. A possible explanation for the apparent non-random X-inactivation in this family is the co-existence of the hprt mutation with an undefined X-linked lethal mutation. This observation is of practical relevance for carrier detection in other Lesch-Nyhan families.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00194310
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  • 6
    Digitale Medien
    Digitale Medien
    Clinical electroretinography in the dog with ganzfeld stimulation: A practical method of examining rod and cone function (1995)
    Springer
    Documenta ophthalmologica 90 (1995), S. 279-290 
    Details
    ISSN: 1573-2622
    Schlagwort(e): Cone function ; Dog ; Electroretinogram ; Ganzfeld stimulation ; Rod function
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We used a simple and reproducible technique with full-field electroretinography and a special-purpose computer system to test and evaluate outer retinal function in dogs. The standardized protocol included the following five basic responses: (1) a stable initial light-adapted, mainly cone derived response, (2) a dark-adapted rod response, (3) chromatically separated rod and cone responses, (4) a maximal rod and cone response and (5) an isolated cone flicker response. For evaluating the electroretinographic responses, a graphic-presentation was used that included data from the tested animal as well as normative data from dogs of the specific breed and age group, presented as the percentage of the median in which limits of normality were depicted in percentiles.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01203863
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  • 7
    Digitale Medien
    Digitale Medien
    Effects of intravitreal perfusion with dopamine in different concentrations on the DC electroretinogram and the standing potential of the albino rabbit eye (1989)
    Springer
    Documenta ophthalmologica 73 (1989), S. 149-162 
    Details
    ISSN: 1573-2622
    Schlagwort(e): b-wave ; c-wave ; dopamine ; electroretinogram ; neurotransmitter ; standing potential
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The direct current electroretinogram and the standing potential were recorded from both eyes of 23 albino rabbits during intraocular perfusion of one of the eyes, which was vitrectomized, with a physiologic reference solution (PHS). PHS was then replaced by a test solution containing dopamine dissolved in PHS. The fluids were subsequently alternated (PHS-dopamine-PHS). During irrigation with 0.25–0.5 mM dopamine (11 rabbits) the c-wave amplitude was 140% higher (p 〈 0.001) and during irrigation with 25 mM dopamine (6 rabbits) 85% lower (p 〈 0.01) than it was during the corresponding initial perfusion with PHS. The simultaneously recorded b-wave amplitude was reduced (0.25–0.5 mM: -22%, p 〈 0.001; 25 mM: - 69%, p 〈 0.001) and the SP level increased (0.25–0.5 mM: +2375 μV, p 〈 0.01; 25 mM: +2530 μV, p 〈 0.05) compared with the values obtained during the corresponding preceding irrigation with PHS. Thus the changes in the b- and c-wave amplitudes during perfusion with dopamine were dependent on the concentration of the drug. In the contralateral control eye (23 rabbits) the c-wave amplitude was 21% higher (p 〈 0.001), the b-wave amplitude 14% higher (p 〈 0.001) and the standing potential 1007 μV higher (p 〈 0.001) during intravitreal perfusion with dopamine in the other eye than during the preceding irrigation with PHS in that eye, possibly as a result of increasing dark adaptation.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00155033
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  • 8
    Digitale Medien
    Digitale Medien
    Corneal D.C. recordings of slow ocular potential changes such as the ERG c-wave and the light peak in clinical work (1988)
    Springer
    Documenta ophthalmologica 68 (1988), S. 313-325 
    Details
    ISSN: 1573-2622
    Schlagwort(e): electroretinography ; D.C. recordings ; light stimulator ; recording equipment ; slow ocular potentials ; standing potential ; c-wave ; fast oscillation ; light peak
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A set-up for D.C. recordings of slow ocular potentials such as the c-wave of the electroretinogram (ERG) as well as the fast oscillation (FO), the light peak (LP) and the dark trough (DT) in both clinical and experimental work is described. It includes matched calomel half-cells connected by saline-agar bridges to a corneal contact lens on the eye and a reference chamber on the forehead, a low-drift differential-input D.C. amplifier, an A/D converter, a computer, a thermoprinter, a flexible disc memory, a plotter, and a device for light stimulation controlled by the computer. Examples of the usefulness of the set-up in clinical work are shown in the form of D.C. c-wave ERGs of normal subjects as well as of patients with vitelliform macular degeneration, choriocapillaris atrophy, and retinitis pigmentosa. The direct corneal recording of the FO and LP is demonstrated as well. The different origins of the standing potential (SP) of the eye, the ERG c-wave, the FO and the LP are reviewed briefly.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00156437
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  • 9
    Digitale Medien
    Digitale Medien
    Effects of intraocular perfusion with two alternating irrigation solutions on the simultaneously recorded electroretinogram of albino rabbits (1986)
    Springer
    Documenta ophthalmologica 63 (1986), S. 349-358 
    Details
    ISSN: 1573-2622
    Schlagwort(e): balanced salt solution ; b-wave ; c-wave ; electroretinogram ; ERG ; intraocular irrigation solution ; intraocular microsurgery
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The direct current electroretinogram (DC-ERG) of 15 unilaterally vitrectomized albino rabbits was studied during continuous intraocular irrigation with a recently developed solution (‘PHS’) produced by Pharmacia Ophthalmics. The mean amplitudes of the b- and c-waves were somewhat lower than corresponding values of previously investigated reference subjects, but not statistically different. In 11 of the 15 rabbits PHS was then replaced by the commonly used balanced salt solution (BSS). The fluids were subsequently repeatedly alternated (PHS, BSS, PHS, BSS, PHS). During irrigation with BSS the average amplitude of the b-wave was reduced to 87% (p 〈 0.02) and that of the c-wave to 63% (p 〈 0.001) of the levels obtained during perfusion with PHS. In two rabbits the ERG was studied about one month after vitrectomy, where PHS-irrigation was used both during surgery and for 30 min after its completion. No marked differences were observed between the treated and the untreated eyes as to the b- and c-wave amplitudes at stable stages of the recording. Thus, judged by the ERG, retinal and pigment epithelial functions were influenced unfavorably by BSS, whereas they seemed to be well preserved with PHS. From this point of view PHS appears to be an excellent irrigation solution for vitreoretinal surgery that ought to be clinically tested.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00220226
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  • 10
    Digitale Medien
    Digitale Medien
    Hereditary retinal degeneration in the Abyssinian cat: Developmental studies using clinical electroretinography (1988)
    Springer
    Documenta ophthalmologica 69 (1988), S. 111-118 
    Details
    ISSN: 1573-2622
    Schlagwort(e): Abyssinian cat ; degeneration ; development ; electroretinography ; retina
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Electroretinography was performed in 10 Abyssinian cats, homozygous for a hereditary retinal degenerative disease but still with an ophthalmoscopically normal retina, and in 11 mixed-breed controls, all between the ages of 8 and 104 weeks. A significant reduction of maximum dark-adapted b-wave amplitude was found in affected kittens as young as 8–16 weeks when compared with controls, although there was no major difference in dark-adapted b-wave threshold or implicit time for the b-wave between affected and controls. For cats 33–104 weeks, similar results were obtained except for the b-wave threshold, which was elevated 2.5 log units in one of the affected cats. No significant difference in 30-Hz cone flicker responses were found between affected and controls at any age studied. In the time period 17–32 weeks affected Abyssinian kittens could not be differentiated from controls by means of the electroretinogram. The significant reduction in scotopic b-wave maximum amplitudes in young affected kittens (8–16 weeks) in conjunction with normal thresholds suggests an early drop-out of rods. It is clear that affected kittens can be differentiated electrophysiologically from controls long before there are ophthalmoscopic signs of retinal disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00153691
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