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Selected AbstractsMolecular genetics of pseudoxanthoma elasticumEXPERIMENTAL DERMATOLOGY, Issue 4 2001F. Ringpfeil Abstract: Pseudoxanthoma elasticum (PXE), a systemic heritable connective tissue disorder, is characterized by progressive calcification of elastic structures in the skin, the eyes and the cardiovascular system, with considerable intra- and interfamilial phenotypic variability. Recently, underlying genetic defects have been identified in the ABCC6 gene, which resides on the chromosomal locus 16p13.1 and encodes the MRP6 protein, a member of the ATP-binding cassette (ABC) family of proteins. The affected individuals are homozygous or compound heterozygous for a spectrum of genetic lesions, including nonsense and missense mutations, or deletions and splice-site alterations, confirming the autosomal recessive nature of this condition. Analysis of the deduced primary sequence suggests that MRP6 is a transmembrane transporter, but its function has not been delineated yet. Surprisingly, however, MRP6 is expressed primarily, if not exclusively, in the liver and the kidneys, suggesting that PXE may be a primary metabolic disorder with secondary involvement of elastic fibers. Identification of mutations in the ABCC6 gene in PXE provides a means for prenatal and presymptomatic testing in families at risk for recurrence. DNA-based analyses will also identify heterozygous carriers who may be at risk for development of limited manifestations of the disease as a result of compounding genetic factors and/or environmental modifiers. [source] The Mediterranean bryozoan Myriapora truncata (Pallas, 1766): a potential indicator of (palaeo-) environmental conditionsLETHAIA, Issue 3 2007BJÖRN BERNING Fossil and Recent specimens of the Mediterranean bryozoan Myriapora truncata show considerable intra- and intercolonial differences in branch diameter and zooid size. Statistically significant variability occurs within colonies, between colonies within sites, and between sampled sites, while the presence of intracolonial variability clearly shows that branch diameter is largely controlled by environmental parameters. The three structural traits measured (branch diameter, zooid size and zooid depth) do not correlate, thus indicating a disconnection between the controls on overall zooid size and branch diameter. Possible environmental parameters that may have an influence on morphology are temperature, food supply or current energy. Whereas current energy has an effect on the colony branching pattern (branch spacing), there are indications that temperature may be the main, but not the only, parameter controlling zooid size, and it is suggested that food supply largely determines the branch diameter in M. truncata. However, the identification of the decisive factors and quantification of the relationships between environmental and morphological change is beyond the scope of this study. The results nevertheless show that, if the control factors of morphological variability can be ascertained in Recent M. truncata, this species may prove to be an indicator of environmental conditions and their change at different spatial and temporal scales in Cenozoic to Recent Mediterranean habitats. [source] Directional characteristics of the auditory system of cicadas: is the sound producing tymbal an integral part of directional hearing?PHYSIOLOGICAL ENTOMOLOGY, Issue 4 2004P. J. Fonseca Abstract. Directional hearing is investigated in males of two species of cicadas, Tympanistalna gastrica (Stål) and Tettigetta josei Boulard, that are similar in size but show different calling song spectra. The vibrational response of the ears is measured with laser vibrometry and compared with thresholds determined from auditory nerve recordings. The data are used to investigate to what extent the directional characteristic of the tympanal vibrations is encoded by the activity of auditory receptors. Laser measurements show complex vibrations of the tympanum, and reveal that directional differences are rather high (>15 dB) in characteristic but limited frequency ranges. At low frequencies, both species show a large directional difference at the same frequency (3,5 kHz) whereas, above 10 kHz, the directional differences correspond to the different resonant frequencies of the respective tymbals. Consequently, due to the mechanical resonance of the tymbal, the frequency range at which directional differences are high differs between the two species that otherwise show similar dimensions of the acoustic system. The directional differences observed in the tympanal vibrations are also observed in the auditory nerve activity. These recordings confirm that the biophysically determined directional differences are available within the nervous system for further processing. Despite considerable intra as well as interindividual variability, the ears of the cicadas investigated here exhibit profound directional characteristics, because the thresholds determined from recordings of the auditory nerve at 30° to the right and left of the longitudinal axis differ by more than 5 dB. [source] Cellular immune responses in autoimmune thyroid diseaseCLINICAL ENDOCRINOLOGY, Issue 4 2004A. P. Weetman Summary Recent research in autoimmune thyroid disease (AITD) has largely focused on delineation of the autoantigens and their epitopes, but there is now renewed interest in the immunoregulatory properties of T cells, an understanding of which may explain the emergence of AITD in experimental settings. T cell recognition of autoantigens has shown considerable intra- and interindividual heterogeneity, and a mixed pattern of cytokine production indicates that both the Th1 and Th2 limbs of the helper T cell response are involved in all types of AITD. It is now clear that secretion of chemokines and cytokines within the thyroid accounts for the accumulation and expansion of the intrathyroidal lymphocyte pool, and that the thyroid cells themselves contribute to this secretion. The thyroid cells also produce a number of proinflammatory molecules which will tend to exacerbate the autoimmune process. Thyroid cell destruction in autoimmune hypothyroidism is dependent on T cell-mediated cytotoxicity with the likely additional effect of death receptor-mediated apoptosis. [source] |