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121.
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome 总被引:20,自引:0,他引:20
Amiel J Laudier B Attié-Bitach T Trang H de Pontual L Gener B Trochet D Etchevers H Ray P Simonneau M Vekemans M Munnich A Gaultier C Lyonnet S 《Nature genetics》2003,33(4):459-461
Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core phenotype is associated with lower-penetrance anomalies of the autonomic nervous system (ANS) including Hirschsprung disease and tumors of neural-crest derivatives such as ganglioneuromas and neuroblastomas. In mice, the development of ANS reflex circuits is dependent on the paired-like homeobox gene Phox2b. Thus, we regarded its human ortholog, PHOX2B, as a candidate gene in CCHS. We found heterozygous de novo mutations in PHOX2B in 18 of 29 individuals with CCHS. Most mutations consisted of 5-9 alanine expansions within a 20-residue polyalanine tract probably resulting from non-homologous recombination. We show that PHOX2B is expressed in both the central and the peripheral ANS during human embryonic development. Our data support an essential role of PHOX2B in the normal patterning of the autonomous ventilation system and, more generally, of the ANS in humans. 相似文献
122.
123.
Wan-Bang Lo R. A. Jungmann J. S. Schweppe B. S. Berlin M. Grover 《Cellular and molecular life sciences : CMLS》1973,29(3):280-282
Zusammenfassung Das elektrophoretische Muster von Histonen und sauren Zellkernproteinen von Hühnerembryonen und deren primären und sekundären Fibroblastzellen wurde qualitativ und quantitativ verglichen. Die Zellkernproteine der verschiedenen Zelltypen erwiesen sich qualitativ als identisch, die relative quantitative Verteilung der Kernproteine war jedoch leicht verschieden. 相似文献
124.
Janoueix-Lerosey I Lequin D Brugières L Ribeiro A de Pontual L Combaret V Raynal V Puisieux A Schleiermacher G Pierron G Valteau-Couanet D Frebourg T Michon J Lyonnet S Amiel J Delattre O 《Nature》2008,455(7215):967-970
Neuroblastoma, a tumour derived from the peripheral sympathetic nervous system, is one of the most frequent solid tumours in childhood. It usually occurs sporadically but familial cases are observed, with a subset of cases occurring in association with congenital malformations of the neural crest being linked to germline mutations of the PHOX2B gene. Here we conducted genome-wide comparative genomic hybridization analysis on a large series of neuroblastomas. Copy number increase at the locus encoding the anaplastic lymphoma kinase (ALK) tyrosine kinase receptor was observed recurrently. One particularly informative case presented a high-level gene amplification that was strictly limited to ALK, indicating that this gene may contribute on its own to neuroblastoma development. Through subsequent direct sequencing of cell lines and primary tumour DNAs we identified somatic mutations of the ALK kinase domain that mainly clustered in two hotspots. Germline mutations were observed in two neuroblastoma families, indicating that ALK is a neuroblastoma predisposition gene. Mutated ALK proteins were overexpressed, hyperphosphorylated and showed constitutive kinase activity. The knockdown of ALK expression in ALK-mutated cells, but also in cell lines overexpressing a wild-type ALK, led to a marked decrease of cell proliferation. Altogether, these data identify ALK as a critical player in neuroblastoma development that may hence represent a very attractive therapeutic target in this disease that is still frequently fatal with current treatments. 相似文献
125.
n-heptane pool fire and industrial alcohol pool fire in a ceiling vented compartment were studied experimentally. The parameters including mass loss rate and rate of gas temperature rise were investigated. The results suggest that the rate of gas temperature rise, whose varia- tions were highly coincident with those of the mass loss rate, minimized at the moment of extinction. The correlation of the rate of average nondimensional temperature rise with mass loss rate was established. It was found that the rate of average nondimensional temperature rise may be correlated with mass loss rate via the gas heat absorption coefficient which was found to be a quadratic function of the nondimensional heat release rate for the ceiling vented compartment under study. The present study may be of practical use for estimation of the time-dependent changes in mass loss rate from the gas temperature curves. 相似文献
126.
Viré E Brenner C Deplus R Blanchon L Fraga M Didelot C Morey L Van Eynde A Bernard D Vanderwinden JM Bollen M Esteller M Di Croce L de Launoit Y Fuks F 《Nature》2006,439(7078):871-874
The establishment and maintenance of epigenetic gene silencing is fundamental to cell determination and function. The essential epigenetic systems involved in heritable repression of gene activity are the Polycomb group (PcG) proteins and the DNA methylation systems. Here we show that the corresponding silencing pathways are mechanistically linked. We find that the PcG protein EZH2 (Enhancer of Zeste homolog 2) interacts-within the context of the Polycomb repressive complexes 2 and 3 (PRC2/3)-with DNA methyltransferases (DNMTs) and associates with DNMT activity in vivo. Chromatin immunoprecipitations indicate that binding of DNMTs to several EZH2-repressed genes depends on the presence of EZH2. Furthermore, we show by bisulphite genomic sequencing that EZH2 is required for DNA methylation of EZH2-target promoters. Our results suggest that EZH2 serves as a recruitment platform for DNA methyltransferases, thus highlighting a previously unrecognized direct connection between two key epigenetic repression systems. 相似文献
127.
LI Kai Way CHEN Chin Jung LIN Ching-Hua HSU Yao Wen 《清华大学学报》2006,11(6):712-719
Introduction Slips and falls are common phenomena both in work- places and leisure activities. The coefficient of fric- tion (COF) between footwear and the floor is regarded as the most critical item determining the occurrence of a slip. It is commonly ac… 相似文献
128.
Organic–inorganic hybrid solar cells based on poly(3-hexylthiophene) and electrospun TiO2 nano bers were fabricated by solution process.The ef ciency of the device was improved by modifying CdS nanoparticles on the surface of TiO2 by electrochemical method.The CdS layer can lead to the increase of both open circuit voltage and short circuit current of the device,which are attributed to enhanced exciton dissociation and light absorption and suppressed carrier recombination by CdS at the heterojunction.However,too thick CdS layer led to increased series resistance and decreased ef ciency of the device.Therefore,the optimum condition of the CdS deposition was obtained,which increased the power conversion ef ciency of the device for about 50%.Our results indicate that the surface modi cation on the inorganic semiconductor layer is an effect way to improve the performance of the hybrid solar cells. 相似文献