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  • 1
    Electronic Resource
    Electronic Resource
    The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 662-664 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We have mapped the gene encoding the p40 subunit of the eukaryotic translation initiation factor eIF3 (EIF3S3) close to the distal border of the minimal critical region for tricho-rhino-phalangeal syndrome type I (TRPS I) on human chromosome 8q24. Because this location makes EIF3S3 a candidate for the TRPS1 gene, we have determined the genomic structure of the EIF3S3 gene and searched for gene deletions and mutations in patients with TRPS I. The gene has eight exons and is transcribed from telomere to centromere. No deletion could be detected in 32 unrelated patients with an apparently normal karyotype. Sequence analysis of all exons in 15 unrelated patients did not reveal any point mutation either. Our data exclude EIF3S3 as the TRPS1 gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900175
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  • 2
    Electronic Resource
    Electronic Resource
    Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 619-628 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have constructed a contig of cosmid, λ-phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the TRPS1 gene, we analyzed 23 human expressed sequence tags (ESTs) and four genes (EIF3S3, RAD21, OPG, CXIV) which had been assigned to human 8q24.1. Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and genes map to the minimal TRPS1 gene region and only two of these genes, RAD21 and EIF3S3, are located within the shortest region of deletion overlap of TRPS II patients. Two genes, OPG and CXIV, which are deleted only in some patients with TRPS II may contribute to the clinical variability of this syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900176
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  • 3
    Electronic Resource
    Electronic Resource
    Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 327-329 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273991
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  • 4
    Electronic Resource
    Electronic Resource
    The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 638-643 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The tricho-rhino-phalangeal syndromes type I (TRPS I) and type II (TRPS II) result from the deletion of overlapping sets of genes within the Langer-Giedion syndrome chromosomal region (LGCR) on chromosome 8. In contrast to TRPS I patients, most TRPS II patients have cytogenetically visible deletions and are often mentally retarded. Using Southern blot and fluorescence in situ hybridization analysis, we searched for submicroscopic deletions in 12 patients with TRPS I and an apparently normal karyotype. One patient of normal intelligence was found to have a deletion of approximately 5 Mb. This suggests that mental retardation in TRPS is caused by genes outside the 5-Mb region. Using three LGCR microsatellite markers, we determined the parental origin of this TRPS I deletion and of eight TRPS II deletions. In six patients, the deletion was of paternal origin and in three patients it was of maternal origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050420
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  • 5
    Electronic Resource
    Electronic Resource
    The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary (1994)
    Springer
    Chromosome research 2 (1994), S. 405-410 
    Details
    ISSN: 1573-6849
    Keywords: evolution ; fluorescentin situ hybridization ; microdissection ; phylogeny ; primates
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will help to clarify phylogenetic relationships. We used a DNA library established by microdissection and microcloning from the entire long arm of human chromosome 2 for fluorescencein situ hybridization and comparative mapping of the chromosomes of human, great apes (Pan troglodytes, Pan paniscus, Gorilla gorilla, Pongo pygmaeus) and Old World monkeys (Macaca fuscata andCercopithecus aethiops). Inversions were found in the pericentric region of the primate chromosome 2p homologs in great apes, and the hybridization pattern demonstrates the known phylogenetically derived telomere fusion in the line that leads to human chromosome 2. The hybridization of the 2q microlibrary to chromosomes of Old World monkeys gave a different pattern from that in the gorilla and the orang-utan, but a pattern similar to that of chimpanzees. This suggests convergence of chromosomal rearrangements in different phylogenetic lines.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01552800
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  • 6
    Electronic Resource
    Electronic Resource
    Comparative chromosome band mapping in primates byin situ suppression hybridization of band specific DNA microlibraries (1991)
    Springer
    Human evolution 6 (1991), S. 67-71 
    Details
    ISSN: 1824-310X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract A DNA-library established from microdissected bands 8q23 to 8q24.1 of normal human chromosomes 8 (Lüdecke et al., 1989) was used as a probe for chromosomal in situ suppression (CISS-) hybridization to metaphase chromosomes of man and primates including Hylobates lar and Macaca fuscata. Comparative band mapping as first applied in this study shows the specific visualization of a single subchromosomal region in all three species and thus demonstrates that synteny of the bulk sequences of a specific human chromosome subregion has been conserved for more than 20 million years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02435608
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