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  • 1
    Electronic Resource
    Electronic Resource
    Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene (1997)
    Springer
    Human genetics 〈Berlin〉 101 (1997), S. 75-80 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1), characterised by peripheral neurofibromas, café-au-lait spots and iris Lisch nodules, is one of the most common inherited disorders. We have analysed exons 35 to 49 in 21 unrelated NF1 patients using reverse transcription-polymerase chain reaction and protein truncation analysis. In two unrelated patients we found skipping of exon 37 at the cDNA level. Sequence analysis of genomic DNA revealed the presence of a C6792A transversion in one patient and a C6792G transversion in a second patient; both transversions change the codon for tyrosine to a nonsense codon. Sequencing of the exonic sequences as well as the branch sites, and the 3′ and 5′ splice sites of exons 36, 37 and 38 did not reveal any additional sequence abnormality. This is the first report showing that nonsense mutations in the NF1 gene can induce the skipping of a constitutive exon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050590
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  • 2
    Electronic Resource
    Electronic Resource
    Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 478-483 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report two sibs with severe, progressively deforming osteogenesis imperfecta (OI) and homozygosity by descent for a glycine 751 to serine substitution in the α2(I) collagen chain due to a G to A transition in the COL1A2 gene. The parents, who were first cousins, and two elder sibs were heterozygous for the mutation and presented mild clinical manifestations of OI. Collagen studies on cultured fibroblasts from one of the probands and from the father showed that cells from the homozygote produced only mutant, unstable collagen I, whereas cells from the heterozygote produced both normal and mutant collagen I. This family represents an exceptional example of autosomal recessive OI, caused by homozygosity for a missense mutation in collagen I.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050392
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT (1999)
    Springer
    Neuroradiology 41 (1999), S. 850-854 
    Details
    ISSN: 1432-1920
    Keywords: Key words Marfan's syndrome ; Ehlers-Danlos syndrome ; spinal canal ; Ectasia dural ; computed tomography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a method for diagnosing dural ectasia (DE) and spinal canal widening (SCW) using CT. We examined 23 patients with Marfan's syndrome (MFS), 17 with Ehlers-Danlos syndrome (EDS) and 29 normal subjects, using six axial slices at the level of the L1-S1 pedicles. Transverse diameters of the vertebral bodies, spinal canal and dural sac were measured and indices were defined to differentiate patients with DE and SCW from normal. Statistical significance was assessed using Student's t -test, χ 2-test and Pearson's correlation coefficient. DE and SCW occurred in 69.6 % and 60.9 % of cases of MFS and in 23.5 % and 35.3 % of EDS respectively. In MFS, prevalence was significantly higher than in the control group. DE was significantly more frequent in MFS than in EDS. A strong correlation existed between DE and SCW in MFS and the control group, but not in EDS. Our system enables quantitative assessment of SCW and DE. The latter is particularly important in subjects suspected of having MFS, in whom it is a common and characteristic sign.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050856
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  • 4
    Electronic Resource
    Electronic Resource
    Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum (1996)
    New York, NY [u.a.] : Wiley-Blackwell
    Cell Biochemistry and Function 14 (1996), S. 111-120 
    Details
    ISSN: 0263-6484
    Keywords: proteoglycans ; Pseudoxanthoma elasticum ; fibroblasts ; skin ; Life Sciences ; Molecular Cell Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Medicine
    Notes: Proteoglycans (PGs) were investigated in fibroblast cultures from both apparently normal and involved areas of skin from two patients affected with Pseudoxanthoma elasticum (PXE) and compared to control normal cells. Biochemical analysis showed that cells from the PXE-affected patients produced a PG population with stronger polyanion properties, as well as a markedly increased amount of high hydrodynamic-size PGs. Moreover, PGs from PXE-affected cells showed abnormal hydrophobic interaction properties when examined under associative conditions and included heparan sulphate (HS)-containing populations with anomalous electrophoretic mobility. These phenomena were particularly evident in the case of PGs secreted into the growth medium. In agreement with these findings immunohistochemical study showed alterations affecting decorin and biglycan, as well as a different content and distribution of HS-PGs in PXE-affected cells. The same biochemical and morphological alterations were confirmed for both patients on different cell cultures and were present in cells from both apparently normal and affected skin areas, being more pronounced in the latter. Our results indicate that PXE-affected fibroblasts in culture exhibit an abnormal PG metabolism, which could affect the normal assembly of extracellular matrix.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/cbf.653
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    Paper (German National Licenses)
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