Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    German Medical Science GMS Publishing House; Düsseldorf
    In:  24. Jahrestagung der Deutschen Gesellschaft für Pädiatrische Infektiologie (DGPI); 20160428-20160430; Frankfurt am Main; DOC16dgpi30 /20160428/
    Publication Date: 2016-04-29
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    Keywords: Germany ; CT ; DENSITY ; TOOL ; GENE ; DIFFERENTIATION ; DOMAIN ; CONTRAST ; fibroblasts ; NUCLEI ; CHROMATIN ; IN-SITU HYBRIDIZATION ; LYMPHOCYTES ; FISH ; HUMAN GENOME ; MAMMALIAN-CELLS ; SPATIAL-ORGANIZATION ; TERRITORIES ; CHROMOSOME TERRITORIES ; ARCHITECTURE ; INTERPHASE NUCLEUS ; FUNCTIONAL IMPLICATIONS ; CELL-NUCLEI ; ORDER CHROMATIN ARRANGEMENTS
    Abstract: Studies of higher-order chromatin arrangements are an essential part of ongoing attempts to explore changes in epigenome structure and their functional implications during development and cell differentiation. However, the extent and cell-type-specificity of three-dimensional (3D) chromosome arrangements has remained controversial. In order to overcome technical limitations of previous studies, we have developed tools that allow the quantitative 3D positional mapping of all chromosomes simultaneously. We present unequivocal evidence for a probabilistic 3D order of prometaphase chromosomes, as well as of chromosome territories (CTs) in nuclei of quiescent (G0) and cycling ( early S-phase) human diploid fibroblasts ( 46, XY). Radial distance measurements showed a probabilistic, highly nonrandom correlation with chromosome size: small chromosomes - independently of their gene density - were distributed significantly closer to the center of the nucleus or prometaphase rosette, while large chromosomes were located closer to the nuclear or rosette rim. This arrangement was independently confirmed in both human fibroblast and amniotic fluid cell nuclei. Notably, these cell types exhibit flat-ellipsoidal cell nuclei, in contrast to the spherical nuclei of lymphocytes and several other human cell types, for which we and others previously demonstrated gene-density-correlated radial 3D CT arrangements. Modeling of 3D CT arrangements suggests that cell-type-specific differences in radial CT arrangements are not solely due to geometrical constraints that result from nuclear shape differences. We also found gene-density-correlated arrangements of higher-order chromatin shared by all human cell types studied so far. Chromatin domains, which are gene-poor, form a layer beneath the nuclear envelope, while gene-dense chromatin is enriched in the nuclear interior. We discuss the possible functional implications of this finding
    Type of Publication: Journal article published
    PubMed ID: 15839726
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    facet.materialart.
    Unknown
    German Medical Science GMS Publishing House; Düsseldorf
    In:  43. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 29. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 25. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR); 20150902-20150905; Bremen; DOCFA.14 /20150901/
    Publication Date: 2015-09-02
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    Keywords: brain ; DISEASE ; GENE ; PROTEIN ; TIME ; genetics ; MUTATIONS ; DEMENTIA ; ANNOTATION ; sequencing ; epilepsy ; ILLNESS ; AMELOGENESIS-IMPERFECTA ; SEQUENCING DATA ; YELLOW TEETH
    Abstract: Kohlschutter-Tonz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping and exome sequencing, we identified a homozygous frameshift deletion, c.229_230del (p.Leu77Alafs*64), in ROGDI in two affected individuals from a consanguineous family. Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C〉T (p.Gln96*) and compound heterozygosity for the splice-site mutations c.531+5G〉C and c.532-2A〉T in ROGDI, respectively The latter mutation was also found to be heterozygous in the mother of the Swiss affected individual in whom KTS was reported for the first time in 1974. ROGDI is highly expressed throughout the brain and other organs, but its function is largely unknown. Possible interactions with DISC1, a protein involved in diverse cytoskeletal functions, have been suggested. Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis
    Type of Publication: Journal article published
    PubMed ID: 22424600
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1432-1106
    Keywords: Magnetic stimulation ; Single motor units ; Lower facial muscles ; Corticobulbar connexions ; Human
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract EMG responses were recorded from lower facial muscles (depressor labii inferioris or depressor anguli oris) of 12 normal subjects after magnetic stimulation of the motor cortex. Using a figure-of-eight stimulating coil, the largest responses were obtained from points around 8–10 cm lateral to the vertex. Usually they were bilateral and had the same latency (11–12 ms) on both sides of the face. Patients with complete Bell's palsy had no response in muscles on the same side as the lesion, indicating that the ipsilateral component to cortical stimulation was not the result of recrossing in the periphery of nerve fibres from the contralateral side. Single-unit studies showed that cortical stimulation produced two phases of motoneuronal facilitation: a short-latency (central motor delay from contralateral cortex to the intracranial portion of the facial nerve, 7.6 ms), short-duration (1– to 2-ms duration peak in the post-stimulus time histogram) input, which was more commonly evoked by contralateral than ipsilateral stimulation; and a longer latency (central delay 〉 15 ms), long-duration input evoked equally well from either hemisphere. The former may represent activity in a predominantly contralateral oligosynaptic corticobulbar pathway; the latter, a polysynaptic indirect (e.g. co-rticotegmento-nuclear) bilateral pathway to lower facial muscles.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...