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朱士群 《苏州大学学报(医学版)》1990,6(2):195-199
Effects of multiplicatioe noise in transient laser intensity are investigated theoretically. Analytic solutions are calculated through a reduced Fokker-Planck equation and the results with different pump parameters are discussed. 相似文献
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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 总被引:21,自引:0,他引:21
Mykytyn K Braun T Carmi R Haider NB Searby CC Shastri M Beck G Wright AF Iannaccone A Elbedour K Riise R Baldi A Raas-Rothschild A Gorman SW Duhl DM Jacobson SG Casavant T Stone EM Sheffield VC 《Nature genetics》2001,28(2):188-191
Bardet-Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although BBS is rare in the general population (<1/100,000), there is considerable interest in identifying the genes causing BBS because components of the phenotype, such as obesity and diabetes, are common. We and others have demonstrated that BBS6 is caused by mutations in the gene MKKS (refs. 12,13), mutation of which also causes McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly, and congenital heart defects). MKKS has sequence homology to the alpha subunit of a prokaryotic chaperonin in the thermosome Thermoplasma acidophilum. We recently identified a novel gene that causes BBS2. The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4. 相似文献
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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome,a complex human obesity syndrome 总被引:11,自引:0,他引:11
Mykytyn K Nishimura DY Searby CC Shastri M Yen HJ Beck JS Braun T Streb LM Cornier AS Cox GF Fulton AB Carmi R Lüleci G Chandrasekharappa SC Collins FS Jacobson SG Heckenlively JR Weleber RG Stone EM Sheffield VC 《Nature genetics》2002,31(4):435-438
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital heart disease. What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13 p12 (BBS3), 15q22.3 q23 (BBS4), 2q31 (BBS5) and 20p12 (BBS6). There has been considerable interest in identifying the genes that underlie BBS, because some components of the phenotype are common. Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). In addition, we recently used positional cloning to identify the genes underlying BBS2 (ref. 16) and BBS4 (ref. 17). The BBS6 protein has similarity to a Thermoplasma acidophilum chaperonin, whereas BBS2 and BBS4 have no significant similarity to chaperonins. It has recently been suggested that three mutated alleles (two at one locus, and a third at a second locus) may be required for manifestation of BBS (triallelic inheritance). Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance. 相似文献
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A C3Cl-type(bcc)-semi-infinite ferrimagnet with a single-ion uniaxial anisotropy and a magnetic impurity layer is considered through combining Green‘s function theory with the transfer-mairx method.The effect of the anisotropy term and the impurity layer on surface spin wave specirum is discussed.The influence of the impurity layer‘s distance from the surface or surface spin woves is also concerned. 相似文献
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