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  • 1
    Electronic Resource
    Electronic Resource
    Synthesis and Characterization of Biodegradable Homopolymers and Block Copolymers Based on 1,5-Dioxepan-2-one (1994)
    s.l. : American Chemical Society
    Macromolecules 27 (1994), S. 5556-5562 
    Details
    ISSN: 1520-5835
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/ma00098a007
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1 (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 225-232 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have previously mapped the gene for autosomal dominant cerebellar ataxia type II (ADCAII) to chromosome 3p12-p21.1 in a region of 33 cM by using four families of different geographic origin. In this study, we analysed the families with nine additional simple tandem repeat markers located in the ADCAII candidate region. An extensive clinical evaluation was also performed in the Belgian family CA-1 on two probably affected and seven at-risk individuals by means of ophthalmological examination and magnetic resonance imaging. Based on informative recombinants, we were able to reduce the ADCAII candidate region to the 12-cM region between D3S1300 and D3S1285. Furthermore, haplotype analysis among the families suggested that the most likely location of the ADCAII gene is within the 6.2-cM interval between D3S3698 and D3S1285. Because of the documented anticipation in ADCAII families, we also analysed family CA-1 with six polymorphic triplet repeat markers located on chromosome 3. None of these markers showed expanded alleles.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050344
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  • 3
    Electronic Resource
    Electronic Resource
    PMP22 Thr118Met is not a clinically relevant CMT1 marker (2000)
    Springer
    Journal of neurology 247 (2000), S. 696-700 
    Details
    ISSN: 1432-1459
    Keywords: Key words Charcot-Marie-Tooth type 1 ; Peripheral myelin protein 22 ; Polymorphism ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract It is controversial if peripheral myelin protein 22 gene (PMP22) Thr 118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this variant has been found in two patients with Charcot-Marie-Tooth disease type 1 (CMT1 patients), it can act as a recessive CMT1 mutation. To shed further light on this variant and its diagnostic value we searched for carriers in 1018 individuals from the German general population, in 104 probands with hereditary neuropathy with liability to pressure palsies (HNPP) who were carriers of the 1.5-Mb deletion frequently associated with this disorder, in 187 patients with the 1.5-Mb duplication, and in 22 patients with a CMT1 phenotype who did not have any detectable anomaly in the PMP22 gene. Using allele-specific PCR we identified 14 [allele frequency (AF)=0.007] in the German general population, one (AF=0.01) in the HNPP group and six (AF=0.016) and two (AF=0.05) carriers of the PMP22 Thr118Met mutation in the CMT1 groups with and without gene defect. Carriers from all groups showed nerve conduction velocities which did not differ from typical values for these groups. We conclude that the hemizygous occurrence of the 118Met allele does not usually cause CMT1. Because of previous reports on its association with disease, and because its allele product shows abnormalities in in vitro expression systems, it seems possible that this mutation, together with yet unidentified factors, predisposes to CMT1. Alternatively, previously reported disease associations occurred by chance, and the 118Met allele causes biochemical abnormalities irrelevant for CMT1 formation. In either case this mutation is not a clinically relevant disease marker.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070113
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  • 4
    Electronic Resource
    Electronic Resource
    Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family (2000)
    Springer
    Pflügers Archiv 439 (2000), S. r208 
    Details
    ISSN: 1432-2013
    Keywords: Key words: auditory neuropathy ; Gypsies ; hereditary motor and sensory neuropathy - Lom
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy -Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. All sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17pl.2-12 or point mutations in the Protein zero, Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q24 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditary disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004240000148
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  • 5
    Electronic Resource
    Electronic Resource
    Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 410-417 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) is a progressive neurodegenerative disorder caused by a CAG expansion in the spinocerebellar ataxia 7 (SCA7) gene. Here, we describe the genomic organisation of the human SCA7 gene. The exon-intron boundaries were identified by sequencing plasmid subclones of a P1 artificial chromosome (PAC) clone containing the entire SCA7 gene. We found 13 exons, ranging in size from 69 to 979 bp, with all exon-intron boundaries following the GT-AG rule. The ATG initiation codon at position 554 of the cDNA occurs in exon 3 at position 12 and the coding region extends to the first five codons of exon 13, with the CAG repeat being located in exon 3 starting at codon 30. The intron sizes were determined by long-distance polymerase chain reaction with primers from neighbouring exons and by restriction mapping of the SCA7 PAC clone. The introns varied in size from 233 bp to about 40 kb, resulting in an overall size estimate for the SCA7 gene of 140 kb. Sequence analysis of intron 7 (491 bp) revealed a polymorphic GT/AC repeat, a useful intragenic marker for SCA7 in segregation studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900156
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  • 6
    Electronic Resource
    Electronic Resource
    Copolymers of 1,5-dioxepan-2-one and L- or D,L-dilactide: Hydrolytic degradation behavior (1994)
    New York, NY [u.a.] : Wiley-Blackwell
    Journal of Applied Polymer Science 52 (1994), S. 1327-1338 
    Details
    ISSN: 0021-8995
    Keywords: Chemistry ; Polymer and Materials Science
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology , Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: The degradation of two series of copolymers made of 1,5-dioxepan-2-one (DXO) and L-or D,L-dilactide has been investigated. In vitro degradation of the six copolymers with different ratios of the ingoing components was followed using size exlusion chromatography (SEC), nuclear magnetic resonance (NMR) spectrometry, Fourier transform infrared (FTIR) spectroscopy, and differential scanning calorimetry (DSC). The copolymers with a high content of lactic acid units showed a higher rate of hydrolysis than the DXO-rich copolymers. The copolymer morphology also affects the rate of degradation as seen in the differences between amorphous and semicrystalline samples. The effect of electron beam sterilization was studied as well as the degradation products formed using the gas chromatography-mass spectrometry (GC-MS) technique. The major degradation products resulted from ester bond cleavage. Kinetics of the in vitro degradation indicate a complex hydrolysis, probably a mixture of an uncatalyzed and catalyzed mechanism. © 1994 John Wiley & Sons, Inc.
    Additional Material: 11 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/app.1994.070520917
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