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  • 1
    Digitale Medien
    Digitale Medien
    Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings (1999)
    Springer
    Acta neuropathologica 98 (1999), S. 203-211 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Key words Microcephaly ; Pyramid absence ; Inferior ; olive dysplasia ; Cataract
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract In two siblings (a female and a male neonate), severe microcephaly, bilateral absence of the pyramids, severe hypoplasia of the cerebral peduncles, and dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyral pattern with the insula incompletely covered by the opercula, and a torn but otherwise intact corpus callosum. In case 2, congenital cataract was also observed. The present cases can be characterized as a rapidly fatal, familial syndrome, probably transmitted as an autosomal recessive trait, and have several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocular and facial malformations, multiple contractures, and ichthyosis-like skin in common.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004010051070
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Transcription of the avirulence gene Avr9 of the fungal tomato pathogen Cladosporium fulvum is regulated by a GATA-type transcription factor in Aspergillus nidulans (1999)
    Springer
    Molecular genetics and genomics 261 (1999), S. 653-659 
    Details
    ISSN: 1617-4623
    Schlagwort(e): Key words AREA ; niaD gene ; NIRA ; NIT2 ; Nitrogen starvation
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie
    Notizen: Abstract The avirulence gene Avr9 of the fungal tomato pathogen Cladosporium fulvum is highly induced during infection of tomato plants. Expression of the Avr9 gene can also be induced in vitro when cells are grown on synthetic liquid medium containing little or no nitrogen. The Avr9 promoter contains six copies of the sequence TAGATA and six additional copies of the core sequence GATA within 0.4 kb upstream of the translation start site. In the filamentous fungi Aspergillus nidulans and Neurospora crassa, these promoter sequences have been identified as the binding sites for a wide-domain GATA-type regulator (AREA in A. nidulans and NIT2 in N. crassa) involved in nitrogen utilization. Quantification of GUS activity of A. nidulans transformants containing a single copy of the fully active Avr9 promoter-uidA (GUS) reporter gene fusion in different areA backgrounds, following starvation for nitrogen, showed that induction of the Avr9 promoter is regulated similarly in A. nidulans and C. fulvum. This suggests that AREA can regulate the Avr9 promoter and that C. fulvum contains an AREA-like regulator that can bind to these specific sequence motifs. Comparison of the induction profiles of Avr9 and niaD showed that Avr9 expression is independent of NIRA, as is niaD expression upon nitrogen starvation. Studies with Avr9 promoter-uidA fusions in which all or most of these sequences had been deleted, showed that Avr9 promoter activity is dependent on the presence of these specific cis-regulatory elements, suggesting that they do indeed function in transcriptional regulation of the Avr9 gene.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004380050008
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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