AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHOD...AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHODS: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin. RESULTS: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found. CONCLUSION: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.展开更多
The thyroid hormones L-thyroxine and triiodo-L-thyronine have profound effects on postembryonic development of most vertebrates. Analysis of their action in mammals is vitiated by the exposure of the developing foetus...The thyroid hormones L-thyroxine and triiodo-L-thyronine have profound effects on postembryonic development of most vertebrates. Analysis of their action in mammals is vitiated by the exposure of the developing foetus to a number of maternal factors which do not allow one to specifically define the role of thyroid hormone (TH)or that of other hormones and factors that modulate its action. Amphibian metamorphosis is obligatorily dependent on TH which can initiate all the diverse physiological manifestations of this postembryonic developmental process(morphogenesis, cell death, re-structuring, etc.) in free-living embryos and larvae of most anurans. This article will first describe the salient features of metamorphosis and its control by TH and other hormones. Emphasis will be laid on the key role played by TH receptor (TR), in particular the phenomenon of TR gene autoinduction, in initiating the developmental action of TH. Finally, it will be argued that the findings on the control of amphibian metamorphosis enhance our understanding of the regulation of postembryonic development by TH in other vertebrate species.展开更多
Abalone Haliotis diversicolor supertexta is an important economic mollusk.The settlement and metamorphosis are two critical stages during its development period,which has direct influence on abalone survival and produ...Abalone Haliotis diversicolor supertexta is an important economic mollusk.The settlement and metamorphosis are two critical stages during its development period,which has direct influence on abalone survival and production.The influence of reactive oxygen species(hydrogen peroxide) on abalone embryo and juvenile development were examined in this study.Larvae of Haliotis diversicolor supertexta were induced to settlement and metamorphose by exposure to seawater supplemented with hydrogen peroxide.They had the best performance at 800 μmol/L.The concentration of 1 000 μmol/L or higher was toxic to the larvae,as the larvae could settle down only at benthic diatom plates without complete metamorphosis.In addition,H2O2 adding time was critical to the larval performance.24h after two-day post-fertilization was proved to be the optimal adding time.In this paper,two action mechanisms of hydrogen peroxide are discussed:(1) hydrogen peroxide has direct toxicity to ciliated cells,thus cause apoptosis;(2) hydrogen peroxide,as a product from catecholamines' autoxidation process in vivo,can reverse this process to produce neuro-transmitters to induce abalone metamorphosis.展开更多
文摘AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHODS: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin. RESULTS: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found. CONCLUSION: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.
文摘The thyroid hormones L-thyroxine and triiodo-L-thyronine have profound effects on postembryonic development of most vertebrates. Analysis of their action in mammals is vitiated by the exposure of the developing foetus to a number of maternal factors which do not allow one to specifically define the role of thyroid hormone (TH)or that of other hormones and factors that modulate its action. Amphibian metamorphosis is obligatorily dependent on TH which can initiate all the diverse physiological manifestations of this postembryonic developmental process(morphogenesis, cell death, re-structuring, etc.) in free-living embryos and larvae of most anurans. This article will first describe the salient features of metamorphosis and its control by TH and other hormones. Emphasis will be laid on the key role played by TH receptor (TR), in particular the phenomenon of TR gene autoinduction, in initiating the developmental action of TH. Finally, it will be argued that the findings on the control of amphibian metamorphosis enhance our understanding of the regulation of postembryonic development by TH in other vertebrate species.
基金Supported by NSFC (No. 40476057)Shenzhen Science and Technology Foundation (No. JH200504270120A)the Longgang Aquaculture Bureau of Shenzhen
文摘Abalone Haliotis diversicolor supertexta is an important economic mollusk.The settlement and metamorphosis are two critical stages during its development period,which has direct influence on abalone survival and production.The influence of reactive oxygen species(hydrogen peroxide) on abalone embryo and juvenile development were examined in this study.Larvae of Haliotis diversicolor supertexta were induced to settlement and metamorphose by exposure to seawater supplemented with hydrogen peroxide.They had the best performance at 800 μmol/L.The concentration of 1 000 μmol/L or higher was toxic to the larvae,as the larvae could settle down only at benthic diatom plates without complete metamorphosis.In addition,H2O2 adding time was critical to the larval performance.24h after two-day post-fertilization was proved to be the optimal adding time.In this paper,two action mechanisms of hydrogen peroxide are discussed:(1) hydrogen peroxide has direct toxicity to ciliated cells,thus cause apoptosis;(2) hydrogen peroxide,as a product from catecholamines' autoxidation process in vivo,can reverse this process to produce neuro-transmitters to induce abalone metamorphosis.
