Effects of aflatoxin B1 on human skin lipids metabolism — a site of action on 1-14C-acetate incroporation

Zusammenfassung Aflatoxin B₁ hemmt den Einbau von 1-¹⁴C-Azetat in die Lipide der menschlichen Haut. Wird aber³H-Azetyl-CoA als Vorstufe für den Lipideinbau verwendet, so kommt es zu keiner merklichen Hemmung. Die Azetataktivierung scheint somit die wichtigste, vom Toxin beeinflussbare Stufe der Lipidsynthese zu sein.     

DSPP mutation in dentinogenesis imperfecta Shields type II

We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.     

350例男性不育症原因临床分析

1979～1983年我科诊治350例男性不育症,基本原因归纳为三大类:精子质量差199例,占56.86％;并发前列腺炎、精索静脉曲张、睾丸附睾炎者共154例,无精子症65例,占18.57;性功能障碍86例,占24.57％。精子质量差患者中,并发附属性腺炎症十分明显,对两者关系作了阐述;对无精子症患者经双侧输精管通水或精道造影术及双侧皋丸病理活检,显示了睾丸组织有明显损害;性功能障碍患者经病史调查分析说明绝大多数为功能性的。     

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.     

Biosynthesis of isoprenoids via the non-mevalonate pathway

The mevalonate pathway for the biosynthesis of the universal terpenoid precursors, isopentenyl diphosphate (IPP) and dimethylallyl diphosphate (DMAPP), is known in considerable detail. Only recently, the existence of a second mevalonate-independent pathway for the biosynthesis of IPP and DMAPP was detected in plants and certain eubacteria. Experiments with ¹³C and/or ²H-labelled precursors were crucial in the elucidation of this novel route. The pathway is essential in plants, many eubacteria and apicomplexan parasites, but not in archaea and animals. The genes, enzymes and intermediates of this pathway were rapidly unravelled over the past few years. Detailed knowledge about the mechanisms of this novel route may benefit the development of novel antibiotics, antimalarials and herbicides.Received 7 October 2003; received after revision 23 December 2003; accepted 21 January 2004     

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions ('D?hle-like' bodies). MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional Alport-like clinical features of sensorineural deafness, cataracts and nephritis. The similarities between these platelet disorders and our recent refinement of the MHA (ref. 6) and FTNS (ref. 7) disease loci to an overlapping region of 480 kb on chromosome 22 suggested that all three disorders are allelic. Among the identified candidate genes is the gene encoding nonmuscle myosin heavy chain 9 (MYH9; refs 8-10), which is expressed in platelets and upregulated during granulocyte differentiation. We identified six MYH9 mutations (one nonsense and five missense) in seven unrelated probands from MHA, SBS and FTNS families. On the basis of molecular modelling, the two mutations affecting the myosin head were predicted to impose electrostatic and conformational changes, whereas the truncating mutation deleted the unique carboxy-terminal tailpiece. The remaining missense mutations, all affecting highly conserved coiled-coil domain positions, imparted destabilizing electrostatic and polar changes. Thus, our results suggest that mutations in MYH9 result in three megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts and nephritis.     

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier function and immunity, and suggest a new pathway for high serum IgE levels and atopic manifestations.     

BALANCING TORQUE OF SINGLES COTTON ROTOR YARNS

This paper reports a recent development of a yarn modification process to produce torque balanced singles spun yarns. Taking advantages of the core-sheath structure of unconventional spun yarns, we have developed a yarn modification process and applied it to singles yarns spun by rotor spinning. Torque free singles yarns have been produced from 100% cotton fibers. The spirality of resultant single jersey knit fabrics has been greatly reduced or, in some cases, completely eliminated. Properties and performance characteristics of both parent and modified yarns as well as their resultant fabrics have been evaluated including the yarn tensile properties, surface properties, handle, air permeability, burst strength, and pilling resistance of the fabrics.     

SL(3,pn)(p≥7)的第一Cartan不变量

一般性地计算了ｐ≥７时李型有限群ＳＬ（３,ｐｎ）的第一Ｃａｒｔａｎ不变量Ｃ（ｎ）００以及射影不可分解模Ｕｎ（０）的维数ｄｉｍＵｎ（０）。