Search Results - (Author, Cooperation:B. Wirth)

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  1. 1
    Staff View
    Publication Date:
    2013-07-23
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Animals ; *Biological Evolution ; Gene Conversion/*genetics ; Gene Transfer, Horizontal/genetics ; Genome/*genetics ; Genomics ; Meiosis/genetics ; Models, Biological ; Reproduction, Asexual/*genetics ; Rotifera/*genetics ; Tetraploidy
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1546-1718
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Medicine
    Notes:
    [Auszug] Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases. We have performed linkage analysis in 16 ARPKD families and ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/ng0794-429

    Articles: DFG German National Licenses
  3. 3
    Schmidt, G.H. ; Schwankl, W. ; Wirth, B.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0020-1790
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0020-1790(76)90042-1

    Articles: DFG German National Licenses
  4. 4
    Schmidt, G.H. ; Wirth, B. ; Schwankl, W.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0020-1790
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0020-1790(76)90097-4

    Articles: DFG German National Licenses
  5. 5
    Schmidt, G.H. ; Wirth, B.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0022-1910
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0022-1910(74)90077-8

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1006/geno.1993.1018

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1006/geno.1994.1130

    Articles: DFG German National Licenses
  8. 8
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1006/geno.1994.1282

    Articles: DFG German National Licenses
  9. 9
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1006/geno.1994.1220

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(88)90011-0

    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(92)90214-D

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(92)90215-E

    Articles: DFG German National Licenses
  13. 13
    Staff View
    ISSN:
    1432-069X
    Keywords:
    X-linked ichthyosis ; Steroid sulfatase deficiency ; DNA diagnosis ; Carrier detection ; Gene deletion
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect geno-type diagnosis) agree well with those based on the arylsulfatase C/β-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic conselling.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00427656

    Articles: DFG German National Licenses
  14. 14
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract. Recently, the human orthologue to the cell cycle checkpoint genes rad17 (Schizosaccharomyces pombe) and RAD24 (Saccharomyces cerevisiae), called HRAD17, has been isolated and localized to chromosome 4. Independently, we have isolated the HRAD17 transcript and mapped it to chromosome 5q13 between the CCNB1 and BTF2p44cen genes. Furthermore, we have identified the complete exon-intron structure of HRAD17. The gene is organized into 14 exons, the translation initiation site lies within exon 2, and the stop codon within exon 14. Two further HRAD17 pseudogenes, HRAD17P1 and HRAD17P2, were identified on chromosomes 7p21 and 13q14.3, respectively, encompassing exons 3–14 and bearing 84% and 93% homology, respectively. Additionally, we have isolated the coding region of the mouse orthologue, Mrad17, and mapped it on chromosome 13 between Ccnb1 and Btf2p44, the same two genes between which it maps in human. The predicted Mrad17 polypeptide encompasses 687 amino acids and shows 89% similarity to HRAD17. Both genes are most highly expressed in testis compared to all other tissues, as shown by Northern blot hybridization. Histological studies, based on in situ hybridization with radioactively labeled antisense HRAD17 riboprobes, showed a strong expression within the germinal epithelium of the seminiferous tubuli in normal testis whereas in testicular tumors (seminomas) only weak, diffuse signals were seen. In light of the known function of the yeast orthologue at meiotic and mitotic checkpoints, as well as the strong expression in testis and weak expression in seminomas, we suggest a putative involvement of HRAD17 in testicular tumorigenesis.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004399900067

    Articles: DFG German National Licenses
  15. 15
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract  The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA. Three patients in two generations show homozygous deletions of exons 7 and 8 of the telomeric copy of SMN (telSMN), thus confirming the presence of autosomal recessive SMA, with localisation on chromosome 5q12. The fourth SMA patient with mild neurogenic atrophy (confirmed by muscle biopsy and electromyography) shows no homozygous deletion of telSMN but carries a heterozygous deletion of telSMN, as can be deduced from her two affected homozygously deleted children. No intragenic mutation has been identified in the remaining telSMN. In addition, she shares only one SMA chromosome with her affected brother, is haploidentical with two healthy brothers, and has a 31-year-old healthy son, who has inherited an SMN-deleted paternal chromosome and the SMN non-deleted maternal chromosome. These results suggest that this patient either has a neurogenic atrophy of a different origin or exhibits an unusual heterozygous manifestation of SMA 5q12. Interestingly, the two haploidentical telSMN-deleted affected sibs in the second generation show a strikingly discordant clinical picture indicating that, in addition to telSMN mutations, other factors influence the phenotype of SMA in the reported pedigree.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050572

    Articles: DFG German National Licenses
  16. 16
    Hahnen, Eric T. ; Wirth, B.
    Springer
    Published 1996
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract An intragenic single-strand conformation polymorphism (SSCP) variant in exon 2a of the survival motor neuron gene (SMN) has been identified. The SSCP band shift is caused by a silent mutation (AGC→AGT) at codon 28, which is the first codon of exon 2a. Five exchanges of base pairs at the 3′-end of the gene have been described that allow the two copies of SMN (telSMN and cenSMN) to be distinguished, whereas no DNA variant has been found at the 5′-end. The new DNA variant belongs to cenSMN and may be important for the assignment of point mutations to one of the two copies of SMN in spinal muscular atrophy (SMA) patients. The frequency of this variant is lower in SMA patients (10%) than in controls (24%).
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050172

    Articles: DFG German National Licenses
  17. 17
    Laaff, H. ; Giertz, H. ; Wirth, B.
    Springer
    Published 1965
    Staff View
    ISSN:
    1432-1912
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00258559

    Articles: DFG German National Licenses