The mutational spectrum of brachydactyly type C

Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation segregating with the phenotype in a family whose trait was initially thought to map to human chromosome 12. We also describe heterozygous mutations in nine additional probands/families with BDC and show nonpenetrance in a mutation carrier. Finally, we show that mutant GDF5 polypeptides containing missense mutations in their active domains do not efficiently form disulfide-linked dimers when expressed in vitro. These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.     

2-O-methylisohemigossylic acid lactone, a sesquiterpene, isolated from roots of mokumen (Gossampinus malabarica) induces cell death and morphological change indicative of apoptotic chromatin condensation in human promyelotic leukemia HL-60 cells

2-O-methylisohemigossylic acid lactone, a sesquiterpene, was purified from roots of mokumen (Gossampinus malabarica) and identified by Mass, and (1)H- and (13)-NMR. This sesquiterpene displayed strong growth inhibitory effect against human promyelotic leukemia HL-60 cells. Apoptotic morphological change of the nucleus, including chromatin condensation was induced in the HL-60 cells treated with the sesquiterpene. The fragmentation of DNA by the sesquiterpene to oligonucleosomal-sized fragments, a characteristic of apoptosis, was observed to be dose- and time-dependent in the HL-60 cells. Inhibitors of caspases suppressed the DNA fragmentation induced by the sesquiterpene. These findings suggest that growth inhibition by the sesquiterpene of HL-60 cells results from the induction of apoptosis by the sesqui-terpene, and that caspase cascade is involved in the induction of apoptosis by the compound in the HL-60 cells.     

Preparation of Iron Carbon Composite Material by Extracting Iron from Bauxite Residue and Its Adsorption of Heavy Metal Cd(II)

Bulletin of Environmental Contamination and Toxicology - An effective method of iron extraction from bauxite residue was explored, and iron was used to prepare iron carbon composite material, which...     

应用激光电泳技术对MA737小鼠乳腺癌细胞膜表面电荷特性的研究

本工作应用激光多普勒电泳技术对ＭＡ７３７小鼠乳腺癌细胞膜表面电荷特性及高温（４２．５℃）对癌细胞的热效应进行了深入的研究。结果发现，ＭＡ７３７癌细胞的电泳迁移率（ＥＰＭ）明显高于相应正常细胞的ＥＰＭ（约２０％），表明癌细胞表面负电荷增高；实验发现唾液酸可能是ＭＡ７３７癌细胞膜表主要负电基团的来源之一。研究还发现，ＭＡ７３７癌细胞的热敏性比相应的正常细胞强，随高温受热时间的延长，癌细胞的ＥＰＭ呈下降趋势。     

Beta-adrenergic stimulation of calcium channels occurs by potentiation of high-activity gating modes.

cAMP-dependent phosphorylation clearly increases current through cardiac L-type Ca channels, but the molecular manifestation of this effect remains controversial. Previous work implicates either an increase in the number of functional channels or graded changes in the gating of individual channels. We now find that single cardiac Ca channels display three patterns of activity ("modes") and that isoproterenol or 8-bromoadenosine 3',5'-cyclic monophosphate redistributes the relative proportions of modes such that the two most active (mode 1, bursts of brief openings; mode 2, very long-lasting openings) are favored (P less than 0.05; n = 7). Conversely, a pattern of sparse brief openings (mode 0a) is selectively inhibited (P less than 0.01). Despite differences in the relative frequencies of the various modes before and during drug exposure, the gating within each mode is not detectably changed. We conclude that potentiation of highly active modes of Ca channel gating underlies the enhancement of calcium influx by beta-adrenergic stimulation.     

球囊导管损伤后早期动脉平滑肌细胞的增殖

目的：研究动脉硬化早期中膜与内膜平滑肌细胞的增殖。方法：球囊导管损伤大鼠的颈总动脉后在电镜和光镜下观察其形态和生化指标变化。结果：术后24h 5-溴脱氧尿嘧啶尿苷阳性平滑肌细胞出现,阳性细胞率分别于术后第2,5d出现高峰。术后第2,3d迁移细胞的出现率最高。术后第3d,88.8%迁移细胞增殖细胞核抗原阳性。透射电子显微镜下,术后第3d中膜平滑肌细胞特别是内层的为合成型,并且与细胞外基质连接稀疏,基底膜、胶原纤维和弹性纤维被消失。结论：动脉损伤后,中膜平滑肌细胞呈高增殖性,由收缩型转变为合成型,与细胞外基质的结合性降低,中膜弹性纤维、胶原纤维被消化,增生活跃的细胞向内膜的迁移性增高。迁移至内膜的平滑肌细胞呈高增殖性。