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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromosome X in the Xq28 band. Ca2+ ATPase isoform-3 (ATP2B3) has also been mapped to the human Xq28 region. Moreover, it is expressed in fetal but not in adult muscle, suggesting the developmental regulation of gene transcription. These findings render the ATP2B3 gene as an interesting candidate gene for XLMTM. Four families and 7 unrelated XLMTM patients have been analysed by using cDNA and genomic probes of ATP2B3. No large deletions or duplications have been found but a new EcoRI polymorphism has been identified. In addition, the DNA of an XLMTM male deletion patient has been hybridized with the ATP2B3 gene sequences. Our results therefore support the exclusion of ATP2B3 as the causal disease gene of XLMTM. The isolation of the MTM1 gene has recently been reported by another group. However, our approach has led to the detection of a new polymorphism that is an informative marker for linkage and mutation studies in other Xq28-mapped neurological or neuromuscular disorders.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of clinical periodontology 26 (1999), S. 0 
    ISSN: 1600-051X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract. The purpose of this study was to assess the prognostic value of the IL-1 haplotype on the progression of periodontal disease following therapy. 48 adult patients with untreated periodontitis harboring Actinobacillus actinomycetem-comitans and/or Porphyromonas gingivalis were randomly assigned to receive full-mouth scaling alone (control) or in combination with systemic metronidazole plus amoxicillin and supragingival irrigation with chlorhexidine digluconate (test). All patients received supportive periodontal therapy at 3 to 6 months intervals. In 33 patients, lymphocyte DNA was analyzed for polymorphism in the IL-1A gene at position –889 and IL-1B gene at position +3953. Overall, 16 of 33 patients (7 of 17 test and 9 of 16 control) carried the IL-1 haplotype. 2 years following initial periodontal therapy, no differences in the survival rates of sites or teeth not exhibiting probing attachment loss of 2 mm or more compared to baseline, were found between patients who tested positive (85% sites, 53% teeth) and patients who tested negative (89% sites, 56% teeth) for the IL-1 haplotype. The results indicated that the IL-1 haplotype may be of limited value for the prognosis of periodontal disease progression following non-surgical periodontal therapy.〈section xml:id="abs1-1"〉〈title type="main"〉ZusammenfassungInterleukin-1-Haplothyp und Progression der Parodontalerkrankung nach der TherapieDer Zweck dieser Studie war es, den prognostischen Wert des IL-1-HapIotyps bezüglich der Progression einer Parodontalerkrankung nach der Behandlung zu bestimmen. Achtundvierzig erwachsene Patienten mit unbehandelter Parodontitis und Vorhandensein von Actinobacillus actinomycetemcomitans und/oder Porphyromonas gingivalis wurden randomisiert, entweder mit ausschließlichem Scaling des gesamten Gebisses behandelt (Kontrolle) oder in Kombination mit systemischem Metronidazol plus Amoxicillin und supragingivaler Spülung mit Chlorhexidin-Diglukonat (Test). Alle Patienten erhielten in 3 bis 6-monatigen Intervallen eine parodontale Erhaltungstherapie. Bei 33 Patienten wurde die DNA der Lymphozyten hinsichtlich Polymorphismus der IL-1A-Gene in der Position -889 und IL-1B-Gene in der Position +3953 analysiert. Ingesamt trugen 16 von 33 Patienten (7 von 17 Test und 9 von 16 Kontrolle) den Il-1-Haplotyp. Zwischen den Patienten die IL-1-Haplotyp-positiv getestet wurden (85% Flächen, 53% Zähne) und Patienten, die negativ getestet wurden (89% Flächen, 56% Zähne), wurden zwei Jahre nach initialer Parodontalbehandlung keine Unterschiede in den Überlebensraten von Flächen oder Zähnen, die bezüglich Ausgangssituation keinen klinischen Attachmentverlust von 2 mm oder mehr aufwiesen, vorgefunden. Die Ergebnisse zeigten, daß der IL-1-Haplotyp von eingeschränktem Wert für die Prognose der Progression der Parodontalerkrankung nach der konservativen Therapie sein könnte.〈section xml:id="abs1-2"〉〈title type="main"〉RésuméHaplotype d'interleukine-1 et progression de la maladie parodontale après traitementLe but de cette étude est d'évaluer la valeur pronostique de l'haplotype d'interleukine-1 (IL-1) pour la progression de la maladie parodontale après traitement. 48 patients adultes avec parodontite non traitée, abritant Actinobacillus aclinomycetemcomitans et/ou Porphyromonas gingivalis, ont été répartis au hasard dans des groupes de traitement devant recevoir un détartrage de toute la bouche, soit seul (groupe témoin) soit combiné avec l'administration systémique de métronidazole+amoxicilline et l'irrigation susgingivale avec le digluconate de chlorhexidine (test). Tous les patients ont reçu un traitement de maintenance parodontale à des intervalles de 3 à 6 mois. Ches 33 patients l'ADN de lymphocyte a été analysé en ce qui concerne le polymorphisme dans le gène d'IL-1A en position -889 et dans le gène d'IL-1B en position +3953. Dans l'ensemble, 16 des 33 patients (7 des 17 tests et 9 des 16 témoins) étaient porteurs de l'haplotype d'IL-1. Deux ans après le traitement parodontal initial, aucune différence dans le taux des sites ou dents ayant survécu, ne présentant pas de perte d'attache de 2 mm ou plus par rapport au début, n'a été trouvée entre les patients dont le test pour l'haplotype d'IL-1 était positif (85% des sites, 53% des dents) et les patients dont le test était négatif (89% des sites, 56% des dents). Les résultats indiquaient que l'haplotype dTL-1 peut avoir une valeur limitée pour le pronostic de la progression de la maladie parodontale après un traitement parodontal non chirurgical.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Kennedy-Syndrom ; Spinobulbäre Muskelatrophie (SBMA) ; Dynamische Mutationen ; Androgenrezeptor ; Trinukleotidrepeat ; Key words Kennedy-Syndrome ; Spinobulbar muscular atrophy (SBMA) ; Dynamic mutations ; Androgen receptor ; Trinucleotide repeat expansion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.
    Notes: Zusammenfassung Das Kennedy-Syndrom ist eine X-chromosomal rezessiv vererbte bulbospinale Muskelatrophie, die in einigen Fällen mit endokrinologischen Störungen, wie einer partiellen Androgenresistenz und einem Diabetes mellitus einhergeht. Die Erkrankung manifestiert sich in der Regel zwischen dem 20. und 40. Lebensjahr. Initiale Symptome sind schlaffe proximale Paresen, Faszikulationen, Muskelkrämpfe oder Tremor. Die Progredienz der Krankheit ist meist langsam und die Lebenserwartung normal. Deshalb ist es wichtig, das Kennedy-Syndrom von der amyotrophen Lateralsklerose (ALS), spinalen Muskelatrophien (SMA), Muskeldystrophien und anderen Formen von Motorneuronerkrankungen abzugrenzen. Das Kennedy-Syndrom wird durch eine Trinukleotidexpansion im Gen des Androgenrezeptors verursacht. Heute erlaubt die genetische Diagnostik im Individualfall eine zuverlässige Diagnose und genetische Beratung. Eine effektive Behandlung existiert bisher noch nicht.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Gliedergürteldystrophie ; Dystrophin ; Sarkoglykan ; Adhalin ; Emery-Dreifuss-Dystrophie ; Emerin ; Merosin ; Calpain-3 ; Muskeldystrophie Duchenne ; Muskeldystrophie Becker ; Key words Limb-girdle dystrophy ; Dystrophin ; Sarcoglycan ; Adhalin ; Emery-Dreifuss muscular dystrophy ; Emerin ; Merosin ; Calpain-3 ; Becker muscular dystrophy ; Duchenne muscular dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Recent progress in the field of molecular genetics revealed a broader spectrum of dystrophin-related disorders than previously assumed. In addition, the pathogenetic basis of other types of muscular dystrophies could be identified: some autosomal-recessive limb girdle dystrophies are caused by mutations of sarcoglycan genes, others are caused by deficiency of the sarcoplasmatic enzyme calpain-3. Emery-Dreifuss muscular dystrophy is due to the deficiency of the nuclear membrane protein emerin. About 50% of congenital muscular dystrophies are related to mutations of a extracellular matrix protein merosin (α-laminin). A series of monoclonal antibodies for immunohistochemistry is now available recognizing many cytoskeletal muscle proteins. In combination with molecular genetics a diagnostic flow chart can be developed which allows a definite diagnosis in most cases. In this review disease entities are illustrated by case reports. We discuss the significance of immunohistochemical and molecular methods for diagnosis.
    Notes: Zusammenfassung Neue Ergebnisse der molekularen Genetik haben in den vergangenen Jahren zu der Einsicht geführt, daß das klinische Spektrum der Erkrankungen, die auf Defekte des Muskelmembranproteins Dystrophin zurückgeführt werden können, erheblich breiter ist, als bisher angenommen wurde. Außerdem konnten die molekularen Ursachen anderer Unterformen der progressiven Muskeldystrophien identifiziert werden: ein Teil der autosomal-rezessiv vererbten Muskeldystrophien vom Gliedergürteltyp beruht auf Mutationen der Sarkoglykangene, andere auf Defekten der sarkoplasmatischen Protease Calpain-3; als Ursache der Emery-Dreifuss-Muskeldystrophie konnte ein Membran-Protein der Kernhülle identifiziert werden; etwa die Hälfte der kongenitalen Muskeldystrophien beruht auf Störungen des Merosins (=α2-Laminin), einer Komponente der extrazellulären Matrix. Es steht heute ein Repertoire an spezifischen Antikörpern gegen fast alle der o.g. Muskelproteine für die Immunhistologie zur Verfügung. Zusammen mit den Methoden der molekularen Genetik kann somit ein differenziertes diagnostisches Schema entwickelt werden, das in vielen Fällen zu einer definitiven Diagnose führt. Anhand eigener Fallberichte werden diese Krankheitsentitäten referiert und auf die differentialdiagnostische Bedeutung einer erweiterten immunhistochemischen und molekularen Diagnostik eingegangen.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Chromosome research 3 (1995), S. 27-31 
    ISSN: 1573-6849
    Keywords: CREST sera ; interphase kinetochore association ; kinetochore ; nuclear proteins ; Vicia faba
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract More than 100 sera from patients with scleroderma CREST (calcinosis, Raynaud phenomenon, esophageal dismotility, sclerodactyly, telangiectasia) were tested in order to detect antigenic nuclear components of the field beanVicia faba (2n=12). Kinetochores of mitotic chromosomes and prekinetochores of interphase cells from root-tip meristems were specifically labelled via an indirect immunofluorescence procedure by antibodies of one of these sera. In 44% of interphase nuclei in which centromeres could be identified, only half (6) of the number of expected prekinetochores (12) was detected, circumstantially indicating at least transient association of homologous centromeres. Some nuclei showed clustering of centromeres at one pole (Rabl configuration). In metaphase chromosomes, each sister kinetochore contained a fluorescent spot. Western blotting of field bean nuclear proteins revealed four antigenic proteins of 28, 30, 64 and 68 kDa.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1572-9710
    Keywords: biodiversity ; Amazonia ; geographic information system (GIS) ; museum collections ; species diversity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Data from 3991 records of museum collections representing 421 species of plants, arthropods, amphibians, fish, and primates were analyzed with GIS to identify areas of high species diversity and endemism in Amazonia. Of the 472 1 × 1° grid cells in Amazonia, only nine cells are included in the highest species diversity category (43–67 total species) and nine in the highest endemic species diversity category (4–13 endemic species). Over one quarter of the grid cells have no museum records of any of the organisms in our study. Little correspondence exists between the centers of species diversity identified by our collections-based data and those areas recommended for conservation in an earlier qualitative study of Amazonian biodiversity. Museum collections can play a vital role in identifying species-rich areas for potential conservation in Amazonia, but a concerted and structured effort to increase the number and distribution of collections is needed to take maximum advantage of the information they contain.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1615-6110
    Keywords: Strelitziaceae ; Phenakospermum ; Isozyme electrophoresis ; RAPD ; genetic variation ; pollination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Phenakospermum guyannense is a monotypic, arborescent, long-lived monocot that is widespread in Amazonian South America. This outcrossing species is pollinated primarily by phyllostomid bats. Given these life-history characteristics,P. guyannense is expected to exhibit high levels of genetic variation and gene flow. We used isozyme electrophoresis and randomly amplified polymorphic DNA (RAPD) to characterize genetic variation in populations ofP. guyannense from French Guiana. Both measures detected a surprisingly low level of genetic variation, with only five out of twenty (25%) allozyme loci polymorphic (P), 1.35 alleles per locus (A), and an expected heterozygosity (He) of 0.090 at the species level. Isozymic genetic variation was even lower within populations (P = 17.5, A = 1.24, He = 0.074), and was corroborated by a RAPD assay that used 26 arbitrary primers (P = 3.61, A = 1.04, He = 0.014). Although overall levels of variation were low, the detectable variation was distributed as would be expected for an outcrossing species with extensive gene flow (mean GST = 0.230). We suspect thatP. guyannense is depauperate in genetic variation because of a series of bottlenecks that affected the species over this portion of its range.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Plant systematics and evolution 216 (1999), S. 1-21 
    ISSN: 1615-6110
    Keywords: Heliconia ; Foulehaio ; Honeyeaters ; pollination ; plant reproductive biology ; nectar ; breeding systems ; Samoa ; Fiji
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The primary pollinator of Polynesian heliconias,Heliconia laufao andH. paka, is the Wattled Honeyeater,Foulehaio carunculata. This report is the first documentation of pollination by honeyeaters in the genusHeliconia and the first record ofF. carunculata as a pollinator of a plant species. The Polynesian heliconias bear inflorescences that produce 2–4 hermaphroditic flowers per day for a period of 2–3 months. Each flower secretes abundant nectar (125–184 εl) with low sugar concentration (15–18% sucrose-equivalents, weight per weight basis) which is available at anthesis just before dawn. Ninety percent of flower visits occur between anthesis and mid-morning. The honeyeaters perch on inflorescence bracts, and probing of the flower results in pollen deposition on the head and bill from where pollen is transferred between flowers. No statements on compatibility can be made forHeliconia paka; however,Heliconia laufao appears to be self-compatible. Calculations of energetic values of nectar of the Polynesian heliconias and Daily Energy Expenditures ofF. carunculata suggest that populations ofH. laufao andH. paka serve as rich energy resources for their pollinators.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Mammalian genome 10 (1999), S. 68-70 
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We determined 48 amino acid residues from five peptides from the homogeneous monomer of homogentisate 1,2-dioxygenase (HGO; E.C. 1.13.11.15) of mouse liver. After digestion with trypsin, peptides were separated by reversed phase chromatography and amino acid sequenced. The deduced codon sequence of three peptides was used to derive degenerated oligomeres. By combining these oligos, we were able to amplify fragments from 100 to 300 bases (b) from mouse liver cDNA by polymerase chain reaction after reverse transcription (RT-PCR). A fragment of 200 b was cloned and used as a probe to screen a mouse liver cDNA library. One clone from this library contained the complete cDNA-insert for HGO as determined by sequencing. The cDNA encodes for a protein of 50 kDa, as predicted. The cDNA of mouse HGO has an overall identity of 41% to the corresponding gene hmgA from Aspergillus. Sequence similarities to human expressed sequence tags (EST) clones ranged from 70% to 20%. The positions of 122 conserved amino acids could be determined by multiple sequence alignment. We identified one first intron of 928 b in the mouse gene. The gene for HGO seems to be expressed in various tissues, as shown by RT-PCR on different cDNAs. FISH experiments with the whole murine cDNA as probe clearly revealed signals at the human chromosomal band 3q13.3–q21. This corresponds well to the previous assignment of the locus for the human alkaptonuria gene (AKU) to the same chromosomal region by multipoint linkage analysis. We therefore conclude that the HGO cDNA encodes the gene responsible for alkaptonuria.
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