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981.
OBJECTIVE: To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy. DESIGN: A detailed clinical examination including Goldmann perimetry was undertaken in all family members. Six members under the age of 30 years underwent dark-adapted electroretinography, color contrast-sensitivity measurement, dark-adapted static perimetry, and dark adaptometry. PATIENTS: The study included 34 affected and 22 unaffected patients in four generations of a pedigree that manifested autosomal dominant cone-rod retinal dystrophy linked to a chromosome 19q locus by genetic linkage analysis. RESULTS: Loss of visual acuity occurred in the first decade of life, onset of night blindness occurred after 20 years of age, and little visual function remained after the age of 50 years. Central and, later, peripheral retinal fundus changes were associated with central scotoma, pseudoaltitudinal field defects, and finally global loss of function. Psychophysical and electrophysiologic testing before the age of 26 years showed more marked loss of cone than rod function. CONCLUSIONS: The phenotype associated with this mutation does not fit well into previous subtypes of cone-rod dystrophy. Further studies will be needed to correlate specific genetic mutations in this group of conditions with the various clinical phenotypes. 相似文献
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983.
Erythrocytes of the skate (Raja erinacea) exposed to hypotonic stress swell and then undergo a volume regulatory decrease by releasing taurine and other osmolytes. Previous studies showed that taurine release occurs via a volume-activated, Na(+)-independent, bi-directional transporter that has the properties of a size-limited channel. We now report on the transport characteristics of this channel and its regulation. Kinetic, competition and inhibitor studies indicate that polyols (myo-inositol) and trimethylamines (betaine) are transported by the same channel as taurine. Although the identity of the channel is still unknown a variety of evidence suggests that band 3 is involved in either channel formation or regulation. Hypotonicity causes phosphorylation and structural changes in band 3. Under isotonic conditions band 3 is predominantly in the dimeric form. Hypotonicity causes a shift to tetrameric band 3. We hypothesize that the band 3 tetramer either forms or regulates an osmolyte channel. The finding that expression of band 3 protein increases osmolyte channel activity in Xenopus oocytes supports this hypothesis. 相似文献
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Cows, ewes, and mares varied considerably in susceptibility to toxicoses from the oral administration of the piperidine alkaloid, coniine. Cows were most susceptible and ewes least. Only calves had teratogenic effects from maternal administration of coniine during gestation; lambs and foals were apparently resistant. Results suggest that the marked differences between cattle and sheep are probably not due to variation in gut absorption or rumen metabolism. 相似文献
986.
Hemoglobin synthesis in cell hybrids formed between teratocarcinoma and Friend erythroleukemia cells
MW McBurney 《Canadian Metallurgical Quarterly》1977,12(3):653-662
Viable hybrid cells have been isolated following fusion of Friend erythroleukemia cells and undifferentiated teratocarcinoma cells. The hybrids formed between near-diploid parental cells resembled Friend cells in the ability to grow in suspension and to synthesize hemoglobin in the presence of the chemical inducers dimethyl sulfoxide (DMSO) and ouabain. Erythropoietin (EPO) was effective in inducing hemoglobin synthesis in some of the hybrid cell lines. The hemoglobins synthesized by the hybrids were of the adult forms, but were quantitatively different from those hemoglobins synthesized by the parental Friend cells, suggesting that the fusion event modulated the expression of the hemoglobin chain genes. 相似文献
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