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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The location of the HYP gene, which determines X-linked hypophosphataemic rickets, has been refined considerably by linkage analysis, and three new microsatellite primers isolated, Cap32 (DXS7473), Cap29 (DXS7474) and 7v2 (DXS7475). The locations of four other markers have also been determined (DXS1226, AFMa176zb1, AFMa152wc5, and AFM346azc1). Markers Cap29 and Cap32 are the closest distal markers to the gene with z max = 11.93, θ max = 0.018, and z max = 12.03, θ max = 0.015 respectively. Both Cap29 and Cap32 are proximal to DXS365 and AFMa176zb1, as deduced by screening non-chimaeric yeast artificial chromosomes (YACs) from a contig spanning the HYP gene. A single crossover places AFMa176zb1 distal to the disease gene. There are no recombinations between 7v2 and HYP (z max = 12.9, θ max = 0.0), or between 7v2 and adjacent markers Cap32, Cap29, AFMa176zb1, DXS1683 and DXS365. However screening of YAC clones encompassing the HYP gene and also P1 clones localises 7v2 distal to Cap29 and Cap32, and proximal to DXS443. Marker DXS1226 is placed outside the region containing the gene, and is located proximal to DXS274 as confirmed by a crossover for this marker and DXS41 against HYP, and its presence on YAC 83BO5. Genetic mapping of CEPH pedigrees, and screening of YACs places AFMa152wc5 and AFMa346zc1 between DXS1683 and DXS1052. The following gene marker map presents the best order for the HYP region: Xptel-DXS43-DXS999-DXS443-(DXS365/DXS7475/ AFMa176zb1)-(DXS7474/DXS7473)-HYP-DXS1683-(AFMa152wc5/AFMa346zc1)-DXS1052-DXS274-(DXS41/DXS1226)-Xcen. The distance between the cluster of distal flanking markers Cap29 (DXS7474), Cap32 (DXS7473), and DXS1683 is approximately 300 kb, as deduced from physical map data from a YAC contig spanning the gene. Thus the gene for HYP is contained within a single YAC (900AO472). Of further interest, is the location of a putative vitamin D response element (VDRE) on this YAC.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz. AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) and cosmid contig. The genetic data were enhanced after the isolation of a large 1.2-megabase YAC derived from AFM163yh2, in which marker DXS274 was present but not DXS365 or DXS443. Against HYP, DXS365, AFM163yh2 and DXS443 showed no recombinants (Z max = 18.1, Z max = 9.9, and Z max = 16.0 respectively). DXS999 gave Z max = 9.6 at 4% recombination and lies distal to HYP but proximal to DXS197 and DXS43. The disease gene and markers AFM163yh2 and DXS365 are flanked by DXS443 and DXS274. Combining the genetic and physical data, we are able to propose the following gene marker order: Xptel-DXS43-DXS197-DXS999-DXS443-[(DXS365-AFM163yh2), HYP]-DXS274-DXS41-Xcen.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 677-677 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent’s disease. We report a missense mutation in exon 6 of the CLCN5 gene. The mutation in this pedigree is S244L, the same mutation as has previously been described in an Italian family showing a similar pathology. However, in the family reported here, affected males have developed neither nephrolithiasis nor nephrocalcinosis. The question arises whether we are dealing with a milder phenotype or whether a more severe pathology will develop with ageing.
    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
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 7 (1994), S. 122-122 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sir — Last year in Nature Genetics, Zhong et al.1 described the molecular basis for polymorphism at FRAXAC2, a marker first characterized and then used in our laboratories for linkage disequilibrium studies in fragile X syndrome. We agree that this polymorphism is due to single base ...
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 283-285 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A fragment that contains a (CA)n sequence from the 3′ untranslated region of the dystrophin gene can be amplified by the polymerase chain reaction and shows length polymorphism in a Caucasian population. The two common alleles differ by 4bp. This new genetic marker has a heterozygosity of about 35% and is typed more rapidly than a conventional restriction fragment length polymorphism. Its localisation at the 3′ end of the dystrophin gene makes it a useful tool for diagnostic applications in families with Duchenne/ Becker muscular dystrophy, and for the analysis of intragenic recombination.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] X–linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. By positional cloning, we have isolated a candidate gene from ...
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of orofacial orthopedics 35 (1974), S. 347-364 
    ISSN: 1615-6714
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. The wearing for 8–12 hours a day of a removable functional device provokes in the young rat a stimulation of the condylar cartilage growth, and an increase in the distances between the posterior edge of the condyle and the mental foramen. 2. When the mandible is forcibly drawn backwards with a chin-cap, the opposite variations are observed. 3. In order that growth hormone can stimulate condylar cartilage growth, the extrinsic local conditions, such as exist in vivo, must be intact. 4. The lateral pterygoid muscle seems to be a “common link” for various controls operating on the growth of the mandibular condylar cartilage, including growth hormones and various orthopaedic devices.
    Abstract: Résumé 1. Le port, pendant 8 à 12 heures par jour, d'un hyperpropulseur mandibulaire amovible de type postural, provoque chez le jeune rat une stimulation de la croissance du cartilage condylien et un allongement de la longueur entre le bord postérieur du condyle et le trou mentonnier. 2. Lorsque la mandibule est mise en rétropulsion forcée par une fronde mentonnière, on observe des variations dans le sens opposé. 3. Pour agir sur le cartilage condylien l'hormone somatotrope requiert que les conditions extrinsèques locales, telles qu'elles existent in vivo, soient intactes. 4. Le muscle ptérygoïdien externe apparaît comme un «chaînon commun» de diverses actions de contrôle s'exerçant sur la croissance du cartilage condylien de la mandibule, dont celle de l'hormone somatotrope et de divers appareils orthopédiques.
    Notes: Zusammenfassung 1. Das tägliche Tragen eines herausnehmbaren Unterkiefervorschubgerätes für 8 bis 12 Stunden bewirkt bei jungen Ratten eine Anregung des Kondylenknorpelwachstums und eine Vergrößerung des Abstandes vom hinteren Kondylenrand zum Foramen mentale. 2. Wenn der Unterkiefer in eine erzwungene Rückschubstellung durch die Kinnschleuder gebracht wird, werden entgegengesetzte Veränderungen beobachtet. 3. Das Wachstumshormon verlangt zu seiner Wirkung auf den Kondylenknorpel, daß die äußeren lokalen Verhältnisse, wie sie in vivo bestehen, intakt sind. 4. Der Musculus pterygoideus lateralis erscheint als ein “gemeinsames Kettenglied” der verschiedenen Kontrollwirkungen, die das Wachstum des Kondylenknorpels beeinflussen, unter anderen die des Wachstumshormons und der kieferorthopädischen Geräte.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1615-6714
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. The stimulating effect of an orthopaedic device of the postural hyperpropulsive type, on the condylar cartilage growth and on the antero-posterior growth of the mandible, is amplified by administration of growth hormone. So, each time there is an increase in the level of growth hormone—either during the nycthemeral cycle or during a period of growth—the stimulating effect of an orthopaedic device on the mandibular growth will be particularly marked. 2. The growth of condylar cartilage is both “commanded” by general factors like growth hormone (even if this command is only indirect) and regulated by the negative feed-back loops, from the appropriate receptors, the controlled variable being the phenomenon of occlusal adjustment. The lateral pterygoid muscle seems to be a “final common pathway” of various factors acting upon the condylar growth and including the stimulating effect of the postural hyperpropulsion device, of the growth hormone, and of the tongue.
    Abstract: Résumé 1. L'effet stimulant d'un appareil orthopédique tel qu'un hyperpropulseur postural sur la croissance du cartilage condylien et sur l'accroissement antéro-postérieur de la mandibule se trouve amplifié par l'administration d'hormone somatotrope. Donc, chaque fois que nous aurons affaire à une augmentation de taux d'hormone somatotrope—que ce soit pendant une partie du cycle nycthéméral ou durant une période de croissance—l'effet stimulant d'un appareil orthopédique sur la croissance mandibulaire sera particulièrement efficace. 2. La croissance du cartilage condylien est à la fois commandée par des facteurs généraux tels que l'hormone somatotrope, même si cette commande n'est qu'indirecte, et réglée par des boucles de rétroaction négative à points de départ dentaire, périodontique et articulaire, la grandeur à régler étant le phénomène d'ajustement occlusal. Le muscle ptérygoïdien externe apparaît comme un “chaînon final commun” des diverses actions s'exerçant sur la croissance condylienne, dont l'action stimulante de l'hyperpropulseur postural, de l'hormone somatotrope et de la langue.
    Notes: Zusammenfassung 1. Der fördernde Einfluß einer orthopädischen Apparatur in Form des “posturalen Vorschiebers” auf das Kondylenknorpelwachstum und auf das Wachstum des Unterkiefers wird durch Wachstumshormon potenziert. Immer, wenn eine vermehrte Hormonausschüttung stattfindet (Wachstum, Schlafphase des Tagesrhythmus), ist auch die Wirkung einer orthopädischen Apparatur auf das Unterkieferwachstum gesteigert. 2. Das Kondylenknorpelwachstum wird sowohl durch allgemeine Faktoren (z. B. Wachstumshormon) als auch durch die von den Zähnen von Wurzelhaut und Kiefergelenk ausgehenden Rückkoppelungen geregelt. Die Führungsgröße ist der Schlußbiß. Die Musculi pterygoidei laterales erscheinen als eine Art “final common path” für verschiedene auf das Kondylenwachstum sich auswirkenden Faktoren: Darunter fallen mit steigender Wirkung: der “posturale Propulsor”, das Wachstumshormon und die Zunge.
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