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  • 1
    Keywords: SPECTRA ; EXPRESSION ; IN-VITRO ; Germany ; VITRO ; GENE ; GENES ; PROTEIN ; PROTEINS ; PATIENT ; FAMILY ; SKIN ; SEQUENCE ; chromosome ; ACID ; IDENTIFICATION ; MUTATION ; MUTATIONS ; EPIDERMAL DIFFERENTIATION ; PHENOTYPE ; point mutation ; ARACHIDONIC-ACID ; EUROPE ; NOMENCLATURE ; CHROMOSOME 17P13.1 ; GENE-PRODUCT ; molecular ; ENZYME-ACTIVITIES ; ENZYME ; MISSENSE MUTATION ; MUTANTS ; recombinant protein ; SUBFAMILY ; ALOX12B ; ALOXE3 ; COLLODION BABY ; congenital ichthyosis ; genodermatosis ; genotype/phenotype correlation ; hepoxilin ; HEPOXILINS ; LAMELLAR ICHTHYOSIS ; lipoxygenase
    Abstract: Autosomal,recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of severe hereditary keratinization disorders characterized by intense scaling of the whole integument, and differences in color and shape. It is often associated with erythema. To date, six loci for ARCI. have been mapped. Mutations in ALOXE3 and ALOX12B on chromosome 17p13, which code for two different epidermal lipoxygenases, were recently found in patients with ichthyosiform erythroderma from Turkey, France, and North Africa. Here we describe molecular and clinical findings in 17 families with ARCI originating from Central Europe, Turkey, and the Indian subcontinent, with mutations in ALOXE3 or ALOX12B. We identified 11 novel point mutations in ALOX12B (one nonsense mutation and 10 missense mutations) and four different inactivating mutations in ALOXE3. The gene products of ALOX12B and ALOXE3, the epidermal lipoxygenases 12R-LOX and eLOX3 respectively, are preferentially synthesized in the skin. They act in sequence to convert arachidonic acid via 12(R)-HPETE to the corresponding epoxyalcohol, 8(R)-hydroxy,11(R),12(R)-epoxyeicosatrienoic acid. To assess the impairment of enzyme activity, we expressed the mutated genes in vitro and determined the activity of the recombinant proteins toward their genuine substrates. All but one of the recombinant mutants were enzymatically inactive. The characterization of disease-causing mutations in ALOXE3 and ALOX12B and the resulting ARCI phenotypes did not result in clear diagnostic criteria; however, we found a first correlation between the genetic findings and the clinical presentation of ichthyosis
    Type of Publication: Journal article published
    PubMed ID: 16116617
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  • 2
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Segmentale Neurofibromatose ; Epidermaler Nävus ; Keywords Segemtal neurofibromatosis ; Epidermal nevus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Neurofibromatosis is a neuroectodermal systemic disease. A rare variant of this condition is bilateral segmental neurofibromatosis. A 29-year-old man presented with bilateral papillomatous plaques in the lumbar dermatomes. Clinically, the lesions were very similar to an epidermal nevus but histologic examination revealed superficial neurofibromas. Family history, ophthalmologic and neurologic investigations were unremarkable. The unusual morphologic presentation of bilateral segmental neurofibromas in this case points to the wide clinical spectrum of the disease and the significance of histologic examination in systematic nevoid lesions.
    Notes: Zusammenfassung Die Neurofibromatose ist eine neuroektodermale Systemerkrankung, wobei insbesondere die bilaterale segmentale Form eine seltene Variante dieser Erkrankung darstellt. Wir berichten über einen 29-jährigen Mann, bei dem bilateral papulöse Plaques in den lumbalen Dermatomen beobachtet wurden. Die klinisch einem epidermalen Nävus gleichenden Hauterscheinungen entsprachen histologisch oberflächlichen Neurofibromen. Die Familienanamnese sowie die ophthalmologischen und neurologischen Untersuchungen waren unauffällig. Die in diesem Fallbeispiel vorgestellte ungewöhnliche Morphologie einer bilateralen segmentalen Neurofibromatose spricht für die enorme klinische Variabilität dieser Erkrankung und weist auf die Bedeutung histologischer Untersuchungen bei systematisierten nävoiden Hautveränderungen hin.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Klinische Genetik ; Genodermatosen ; Genkartierung ; Molekulare Analyse ; Keywords Clinical genetics ; Genodermatoses ; Gene mapping ; Molecular analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
    Notes: Zusammenfassung Die revolutionären Fortschritte der Molekulargenetik haben es möglich gemacht, dass in den letzten Jahren die Gene zahlreicher erblicher Hauterkrankungen lokalisiert und charakterisiert worden sind. Die Zahl neu entdeckter Loci für Genodermatosen erhöht sich derzeit nahezu jede Woche. In dieser Übersicht werden die wichtigsten molekulargenetischen Methoden dargestellt, die heute zur Kartierung und Analyse von genetisch bedingten Krankheiten angewendet werden. Für rund 200 Genodermatosen wird deren exakte Kartierung, nach Krankheitsgruppen geordnet, tabellarisch aufgeführt, und deren Gen oder Genprodukt wird, soweit bereits bekannt, angegeben. Dabei zeichnen sich neue, ätiologisch orientierte Klassifikationsmöglichkeiten ab, wobei wir einerseits klinisch ganz unterschiedliche Phänotypen auf einen einheitlichen Genlocus zurückführen können und anderseits klinisch einheitliche Genodermatosen mitunter verschiedenen Loci zuordnen müssen. Auch wird ersichtlich, bei welchen Phänotypen besonderer Forschungsbedarf besteht, da zwar die chromosomale Lage der Genloci, nicht aber die zugrunde liegenden Gene bekannt sind.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Heat and mass transfer 1 (1968), S. 121-128 
    ISSN: 1432-1181
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Description / Table of Contents: Abstract As shown by measurements of several investigators the thermal conductivity of plastics generally depends on the structure of the polymer. Amorphous plastics have thermal conductivities which vary only slightly with temperature; results may be represented by mean values. Partially crystalline plastics have a different behavior. One group shows a decrease with temperature, the other group demonstrates a behavior similar to that of amorphous plastics. Mean values are recommended for the second group only.
    Notes: Zusammenfassung Wie eine Gegenüberstellung von Versuchsergebnissen verschiedener Autoren zeigt, hängt die Wärmeleitfähigkeit thermoplastischer Kunststoffe im wesentlichen von der Struktur der jeweiligen Polymerart ab. Die Wärmeleitfähigkeit amorpher Kunststoffe ändert sich nur wenig mit der Temperatur; meist lassen sich alle Versuchsdaten durch Mittelwertkurven zusammenfassen. Teilkristalline Thermoplaste weisen ein unterschiedliches Verhalten auf. Für eine Gruppe ist ein Abfall der Wärmeleitfähigkeit mit der Temperatur bezeichnend, die andere Gruppe verhält sich ähnlich wie amorphe Thermoplaste. Eine Mittelung der Versuchsdaten ist nur für die zweite Gruppe möglich.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1181
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Description / Table of Contents: Abstract Carrying on earlier investigations a new apparatus for measuring the heat conductivity of metals at temperatures between 100 and 500 °C was developped and critically examined. The method is founded on the stationary axial conduction of heat in a vertical cylinder (50 mm ø and 90 mm length) with three bores in a distance of 30 mm for measuring temperatures along the axis of the cylinder. The method is systematically controlled by altering the experimental conditions (heat loss, different heat flow, artificial variation of temperature field). The heat conductivity of Armco Iron, very pure copper, very pure aluminium, pure molybden and two alloys (steel and a NiCr-alloy) is measured between 20 and 500 °C and compared with the results of other work.
    Notes: Zusammenfassung Anschließhere an frühere Unterrsuchungen wurde eine neue Versuchseinrichtung zur Messung der Wärmeleitfähigkeit von Metallen im Temperaturbereich oberhalb 100 ° bis 500 ° aufgebaut und kritisch geprüft. Das Versuchsverfahren beruht auf der stationären axialen Wärmeleitung in einem Zylinder von 50 mm Durchmesser und 90 mm Länge mit drei Bohrungen im Abstand von je 30 mm zur Aufnahme von Thermopaaren für die Temperaturmessung in der Achse des Zylinders. Die Zuverlässigkeit des Meßverfahrens wird in zahlreichen Vorversuchen (Wärmeverlust, verschiedene Wärmeströmung, Verstimmung des Temperaturfeldes) erprobt. Die Wärmeleitfähigkeit folgender Metalle wird zwischen 20 und 500 °C gemessen: Armco-Eisen, sehr reines Kupfer, sehr reines Aluminium, reines Molybdän, Remanit, Baustahl St 37.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Heat and mass transfer 3 (1970), S. 156-168 
    ISSN: 1432-1181
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Description / Table of Contents: Abstract Two stationary methods for determining the thermal conductivity of porous insulating materials are described; both are based on the guarded hot plate apparatus (one with a single test specimen, the other with two equal specimens). The corrections of both apparatus are fully explained; they were experimentally confirmed. Further controlling measurements under wide variation of the measuring conditions show a good agreement between all results. The influence of thermal radiation is represented by the variation of heat conductivity with the thickness s of the specimens. Emissivity at the bounding metallic plates (heating and cooling plates) is without importance, ifs〉20 mm. — A table of special values for the heat conductivity of different materials is published. A second part of this investigation will report about absorption measurements in the infrared range. These dates, together with discussion of earlier work done in this field may help to find the physical background of heat transport in such materials.
    Notes: Zusammenfassung Zwei Meßeinrichtungen zur Ermittlung der Wärmeleitfähigkeit von sehr schlechten Leitern, insbesondere von porösen Schaumstoffen, beruhend auf dem stationären Plattenverfahren werden beschrieben (Zweiplattengerät, Einplattengerät). Die Korrektionen beider Meßeinrichtungen werden ausführlich angegeben und experimentell gesichert. Die Kontrolle beider Geräte unter weitgehender Variation der Versuchsbedingungen bestätigt die gute Übereinstimmung der Ergebnisse. Der Einfluß der Strahlung wird an der Abhängigkeit der Wärmeleitfähigkeit von der Dicke der Platten für Proben aus Polystyrolschaum, aus Polyvinylchloridschaum und aus Schaumglas deutlich gemacht. Der Einfluß des Emissionsgrades der metallischen Begrenzungsflächen ist für Schichtdickens 〉 20 mm vernachlässigbar. In einer abschließenden Tabelle werden für eine Reihe von Schaumstoffen verschiedener Herkunft und Rohdichte gemessene Werte der Wärmeleitfähigkeit bei 25 °C und 45 °C mitgeteilt. — Die hier beschriebenen Versuchsergebnisse werden in einem kürzeren nachfolgenden 2. Teil durch Messung der Ultrarotabsorption in Polystyrol ergänzt; sie werden anschließend mit den Ergebnissen anderer Beobachter verglichen und diskutiert.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1986), S. 574-578 
    ISSN: 1432-1076
    Keywords: Dubowitz syndrome ; Genetics ; Growth retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Terminal deletion 11q ; Malformation-retardation-syndrome ; Porphyrine metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A male child is described with short stature, mental retardation and unusual facial appearance. Cytogenetic analysis revealed a partial deletion of the long arm of chromosome 11: 46,XY,del (11)(qter→q23.3:). A short review of previously reported cases of del 11q is presented. A comparison of the main clinical characteristics and the extent of the 11q deletion is given.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Six families with a total of 34 affected persons with the syndrome of tibial aplasia and ectrodactyly are reported. The spectrum of malformations is compared to that of 99 familial cases from the literature. The full-blown syndrome consists of bilateral aplasia of tibiae and split-hand/split-foot deformity. Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, hypoplastic big toes, postaxial and intermediate polydactyly in connection with split-hand deformity, and cup-shaped ears. The mildest visible manifestation may be hypoplastic big toes, the severest is tetramonodactyly or transverse hemimelia. This disorder is autosomal dominantly inherited. The penetrance is markedly reduced.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report on a female with mental and motor retardation, facial dysmorphism, abnormal pigmentation reminiscent to hypomelanosis of Ito (HI), and karyotypic mosaicism involving a small supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridisation (FISH) as a ring X chromosome with breakpoints in the juxtacentromeric region. FISH analysis showed that the ring does not include the XIST locus at the X-inactivation centre and, therefore, may not be subject to X inactivation. X-inactivation studies with the HUMARA (human androgen receptor) and FMR1 assay showed a skewed X-inactivation pattern (85:15) with preferential inactivation of the paternal X chromosome. These results are discussed with respect to the role of functional disomy of Xp in the pathogenesis of HI.
    Type of Medium: Electronic Resource
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