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  • 1
    Abstract: Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously identified missense mutation Gly204Ser. In another patient, we identified a novel missense mutation Gln665Glu and a single-base deletion delA in Lys753. One patient of Turkish ancestry carried a newly identified homozygous A-to-G transition (ATG to GTG) abolishing the translation initiation codon of the myophosphorylase gene. These results suggest that Arg49Stop also is the most common genetic error associated with myophosphorylase deficiency in the German population. Our findings further demonstrate molecular heterogeneity of myophosphorylase deficiency among the clinically homogeneous patients we studied.
    Type of Publication: Journal article published
    PubMed ID: 9506549
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  • 2
    Abstract: Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Clinical as well as biochemical and allelic heterogeneity have been described in GSDII. We identified mutations within the GAA gene in seven unrelated German patients, six with adult- and one with juvenile-onset GSDII. Beside previously described mutations [IVS1 (-13T --〉 G), delta(exon) 18, C1634T], we characterized four new mutations of GSDII: IVS6 (-22T --〉 G), 271delG, G1912T (Gly638Trp), and 2432insC. The IVS6 (-22T --〉 G) mutation gives rise to aberrant splicing, causing inframe deletions of 25 or 40 amino acids within the GAA coding sequence and the insertion of a sequence of seven missense amino acids. Two affected siblings and an unrelated patient with adult GSDII are apparently homozygous for the exon 18 deletion. Both siblings are also heteroallelic for IVS1 (-13T --〉 G). In conclusion, we observed pronounced allelic heterogeneity and an unexpectedly high frequency of homozygosity for larger in-frame deletions within the GAA coding sequence in German adult-onset GSDII patients.
    Type of Publication: Journal article published
    PubMed ID: 10737124
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  • 3
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS); 20120613-20120616; Leipzig; DOCFR.10.11 /20120604/
    Publication Date: 2012-06-05
    Keywords: Lance Adams syndrome ; Globus pallidus pars interna ; Nucl. ventralis intermedius ; Lance Adams Syndrom ; Globus pallidus pars interna ; Nucl. ventralis intermedius ; ddc: 610
    Language: English
    Type: conferenceObject
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  • 4
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS); 20120613-20120616; Leipzig; DOCDO.04.09 /20120604/
    Publication Date: 2012-06-05
    Keywords: Nonmotor symptoms ; deep brain stimulation ; Parkinson's disease ; nichtmotorische Symptome ; Tiefe Hirnstimulation ; Parkinson ; ddc: 610
    Language: English
    Type: conferenceObject
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  • 5
    Keywords: RECEPTOR ; CELLS ; EXPRESSION ; CELL ; Germany ; DISEASE ; POPULATION ; GENE ; PROTEIN ; PROTEINS ; RNA ; transcription ; TISSUE ; PATIENT ; primary ; REDUCTION ; CONTRAST ; SKIN ; ASSOCIATION ; FORM ; MEMBRANE ; MUTATION ; WILD-TYPE ; INSTABILITY ; MUTATIONS ; LOCALIZATION ; ORGANIZATION ; DILATED CARDIOMYOPATHY ; MEMBRANE PROTEIN ; RNA-POLYMERASE-II ; SECTIONS ; ER ; MEMBRANE-PROTEIN ; C-TERMINAL DOMAIN ; XENOPUS EGG EXTRACT ; B-RECEPTOR ; ENCODING LAMIN A/C ; ENVELOPE INNER MEMBRANE ; FAMILIAL PARTIAL LIPODYSTROPHY ; HUTCHINSON-GILFORD PROGERIA ; INTEGRAL MEMBRANE-PROTEINS
    Abstract: Background: The autosomal dominant form of Emery-Dreifuss muscular dystrophy (AD-EDMD) is caused by mutations in the gene encoding for the lamins A and C (LMNA). Lamins are intermediate filament proteins which form the nuclear lamina underlying the inner nuclear membrane. We have studied the expression and the localization of nuclear envelope proteins in three different cell types and muscle tissue of an AD-EDMD patient carrying a point mutation R377H in the lamin A/C gene.Results: Lymphoblastoid cells, skin fibroblasts, primary myoblasts and muscle thin sections were studied by immunocytochemistry and electron microscopy. Cellular levels of A-type lamins were reduced compared to control cells. In contrast, the amount of emerin and lamin B appeared unaltered. Cell synchronization experiments showed that the reduction of the cellular level of A-type lamin was due to instability of lamin A. By electron microscopy, we identified a proportion of nuclei with morphological alterations in lymphoblastoid cells, fibroblasts and mature muscle fibres. Immunofluorescence microscopy showed that a major population of the lamin B receptor ( LBR), an inner nuclear membrane protein, was recovered in the cytoplasm in association with the ER. In addition, the intranuclear organization of the active form of RNA polymerase II was markedly different in cells of this AD-EDMD patient. This aberrant intranuclear distribution was specifically observed in muscle cells where the pathology of EDMD predominates.Conclusions: From our results we conclude: Firstly, that structural alterations of the nuclei which are found only in a minor fraction of lymphoblastoid cells and mature muscle fibres are not sufficient to explain the clinical pathology of EDMD; Secondly, that wild type lamin A is required not only for the retention of LBR in the inner nuclear membrane but also for a correct localization of the transcriptionally active RNA pol II in muscle cells. We speculate that a rearrangement of the internal chromatin could lead to muscle-specific disease symptoms by interference with proper mRNA transcription
    Type of Publication: Journal article published
    PubMed ID: 15053843
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  • 6
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    German Medical Science; Düsseldorf, Köln
    In:  GMS Zeitschrift für Medizinische Ausbildung; VOL: 23; DOC63 /20061115/
    Publication Date: 2006-11-16
    Description: Within two years the Faculty of Medicine Dresden introduced a quality management system (QMS) for educational processes. The system underwent a certificational procedure and was certified according to DIN EN ISO 9001:2000. The QMS is based on a manual describing all educational processes. It serves visualization of these processes, identification of links between them and a clear definition of responsibilities. All involved employees of Faculty of Medicine can use the manual to optimize and improve the educational system.Leadership-, core- and supporting processes are described. Procedure instructions and further applicable documents are included.The manual is accessible via Intranet to all employees and "clients" of the Faculty of Medicine.The QMS is a leadership instrument. It relies on the vision of the Dresden Faculty of Medicine which defines short and long term goals and strategies to reach them. Certification procedure was completed with handing over of the certificate to the dean. It is valid for three years and the Faculty of Medicine will be under yearly supervision of certification agency.
    Description: Nach zweijähriger Einführungszeit führte die Medizinische Fakultät Dresden als erste medizinische Fakultät Deutschlands ein Qualitätsmanagementsystem (QMS) für die Lehre ein und ließ es nach der DIN EN ISO 9001:2000 Norm zertifizieren. Das QMS beruht auf einem Handbuch, welches die wesentlichsten mit der Lehre verbundenen Prozesse beschreibt. Es dient der klaren Prozessvisualisierung, Identifikation der Vernetzungen zwischen den Abläufen und einer ebenso klaren Definition der Verantwortlichkeiten mit Verbindlichkeitscharakter. Es ist eine Handlungsanleitung, auf die alle in die Prozesse der Ausbildung involvierten Kollegen Zugriff haben, mit dem Ziel, alle sich aufzeichnenden Möglichkeiten zur Optimierung zu nutzen und eine Verbesserung des Gesamtsystems kontinuierlich voranzutreiben. Beschrieben werden Führungsprozesse, Kernprozesse und Unterstützungsprozesse.Verfahrensanweisungen wurden erstellt und mitgeltende Unterlagen definiert.Das Managementhandbuch ist als EDV-Version im Intranet (html-Format) verfügbar und jedem Mitarbeiter und "Kunden" zugänglich.Das QMS wird als ein Führungsinstrument verstanden. Das QMS beruht auf den Leitlinien für die Lehre der Fakultät, welche lang- und kurzfristige Ziele und Strategien zur Zielerreichung festlegen.Die Zertifizierung wurde mit der Zertifikatübergabe abgeschlossen. Das Zertifikat ist drei Jahre gültig. In diesem Zeitraum finden jährliche Überwachungsaudits statt.
    Keywords: quality management system ; quality ; medical education ; processes ; educational goals ; Qualitätsmanagement ; Qualität ; medizinische Ausbildung ; Prozesse ; Ausbildungsziele ; ddc: 610
    Language: German
    Type: article
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  • 7
    ISSN: 0305-0491
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    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 A comparative study was performed on the fibre populations in tibialis anterior muscles of mouse, rat, guinea pig, rabbit, cat and dog using the two different methods of histochemical staining for myofibrillar ATPase after acid (Brooke and Kaiser 1970) or alkaline preincubations (Guth and Samaha 1970). For all species a complete correspondence existed between type I (Brooke and Kaiser 1970) and β fibres (Samaha et al. 1970). Gross correspondence (〉85%) existed between IIA and IIB (Brooke and Kaiser 1970) and αβ and α fibres (Samaha et al. 1970) respectively in mouse, guinea pig, rabbit, cat and dog. In the case of mouse and dog, this high degree of correspondence was based on the assumption that mouse tibialis anterior contains no type I and the dog no type IIB fibres. For the rat, a pronounced overlap existed between IIA fibres on the one hand and αβ and α fibres on the other hand as well as between IIB fibres and αβ and α fibres. These observations lead to the conclusion that the two classification schemes are not interchangeable for all species and that the two terminologies should be used only in relation with the methods from which they were derived.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fibre types in the costal region of the diaphragm muscle of several mammalian species with widely different respiratory rates were examined microphotometrically for succinate dehydrogenase (SDH) activity. Mean activities indicated no significant (p〉0.05) difference between the type I and IIA fibres for any of the species examined. SDH activities in type IIB fibres were significantly lower (p〈0.05) than either the type I or type IIA fibres in the cat, guinea pig, rat and rabbit whereas in the mouse no difference was found. The dog had no classical type 1B fibres. Analysis of the distribution of SDH activities by fibre type indicated a wide scattering of scores with no distinct separation between fibre types. Large differences in SDH activity were noted between species. Mean SDH activities were highest in the mouse and rat, intermediate in the rabbit and guinea pig and lowest in the cat and dog. These data suggest an association between respiratory rate and aerobic oxidative potential of the various fibre types in diaphragms of the species examined.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Quantitative microphotometric measurements of two mitochondrial flavoproteins, glycerolphosphate oxidase (GP-OX) and succinate dehydrogenase (SDH), were performed on serial sections of mouse and rabbit tibialis anterior (TA) muscles in order to study the distribution of these two enzymes and their activity ratios in IIA and IIB fibres. The measurements showed a large scatter of the two enzyme activities in these two myosin-based fibre types. In rabbit TA, IIA and IIB fibres have similar GP-OX activities, whereas generally IIA fibres have higher SDH activities than IIB fibres. An inverse distribution of the two enzymes exists in mouse muscle. Generally, IIA fibres of mouse TA display low SDH and IIB fibres high SDH activities. The mean activity of GP-OX is slightly higher in IIA than in IIB fibres of mouse TA. Since measurements of both enzymes were taken in the same fibres, the ratio of their activities in each fibre could be evaluated. The SDH/ GP-OX activity ratios vary significantly between the two fibre populations both in rabbit and in mouse. The ratio is high in IIA and low in IIB fibres of rabbit TA, whereas it is low in IIA and high in IIB fibres of mouse TA.
    Type of Medium: Electronic Resource
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