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  • 2000-2004  (1)
  • 1985-1989  (1)
  • 1960-1964
  • 1955-1959
  • Anosmia  (1)
  • Antikeratin autoantibodies  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Antikeratin autoantibodies in the amyloid deposits of lichen amyloidosus and macular amyloidosis (1989)
    Springer
    Archives of dermatological research 281 (1989), S. 377-382 
    Details
    ISSN: 1432-069X
    Keywords: Lichen amyloidosus ; Macular amyloidosis ; Antikeratin autoantibodies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In order to characterize immunoglobulins found on amyloid deposits of lichen amyloidosus and macular amyloidosis, an elution from cryostat sections was performed with citrate buffer, glycine buffer, NaCl, and PBS. Resulting eluates (mainly IgG) were examined with dot immunoblotting and SDS-PAGE immunoblotting and were found to react with the human epidermal keratin of 50 and 67 kD. Antikeratin autoantibody activities in normal murine and human sera were examined using a dot immunoblotting assay. In murine sera, titers of IgG and IgM autoantibodies were higher in older mice. The human cord blood showed significantly lower IgM autoantibody titers, whereas IgG antibody titers showed no significant differences from adults' sera, probably due to the permeability of IgG through the placental barrier. A stronger antibody activity in older individuals was thought to be due to the repeated exposures to keratin proteins derived from apoptotic keratinocytes. Sera from lichen amyloidosus and macular amyloidosis patients did not show any difference from normal controls in their antikeratin titers. It was concluded that the patients with lichenoid or macular amyloidosis are capable of producing a normal level of antikeratin autoantibodies. However, the removal of opsonized keratin-type amyloid from the skin is slow or deficient due to as yet unknown factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00455320
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome (2000)
    Springer
    Journal of human genetics 45 (2000), S. 237-240 
    Details
    ISSN: 1435-232X
    Keywords: Key words Kallmann syndrome ; KAL1 ; Mutation ; Anosmia ; Hypogonadism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We identified a novel interstitial deletion that spanned from exons 5 to 10 of KAL1 in two Japanese brothers with X-linked Kallmann syndrome (KS; MIM no. 308700). Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Their mother was confirmed to be an asymptomatic carrier, by use of a comparative multiplex polymerase chain reaction (PCR) analysis. The present patients are further examples of patients with KS without mental disturbance caused by a mutation confined to KAL1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070033
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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