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  • 2005-2009
  • 2000-2004  (2)
  • 1970-1974
  • Clinical heterogeneity  (1)
  • Metalloprotein  (1)
  • 1
    ISSN: 1432-2307
    Keywords: Key words Blomstrand osteochondrodysplasia ; Bone density ; Clinical heterogeneity ; Histopathology ; Radiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, ’classical’ form, and type II: a less severe form.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1327
    Keywords: Key words Transcription factor IIB ; Metalloprotein ; Zinc finger ; Gene transcription ; X-ray absorption spectroscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract X-ray absorption spectroscopy has been used to compare the metal coordination of the N-terminal zinc binding domain of eukaryal human transcription factor (TF) IIB to the previously reported structure of archaeal Pyrococcus furiosus (Pf) TFB. Full length and N-terminal fragments for both PfTFBand human TFIIB were cloned, expressed, and purified. The [C10H] variant of PfTFB was constructed to resemble the metal binding motif of higher eukaryal TFIIB proteins by mutating the second cysteine ligand to a histidine. All five proteins bind zinc in a 1 :1 ratio. Zn X-ray absorption spectroscopy of human TFIIB and [C10H]PfTFB mutant are consistent with ZnS3(N,O) ligation, and further suggest that the N/O ligand is an imidazole.
    Type of Medium: Electronic Resource
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