Non-syndromic low-frequency sensorineural hearing loss （LFSNHL） is an unusual type of hearing loss in which frequencies ≤2000 Hz predominantly are affected. To date, different mutations in two genes, DIAPHI and WFS...Non-syndromic low-frequency sensorineural hearing loss （LFSNHL） is an unusual type of hearing loss in which frequencies ≤2000 Hz predominantly are affected. To date, different mutations in two genes, DIAPHI and WFSI, have been found to be associated with LFSNHL. Here, we report a five-generation Chinese family with postlingual and progressive LFSNHL. We mapped the disease locus to a 2.5 Mb region on chromosome 4p16 between markers SNP_A-2167174 and D4S431, overlapping with the DFNA6/14/38 locus. Sequencing of candidate gene revealed a heterozygous c.2086C〉T substitution in exon 8 of WFS1, leading to p.H696Y substitution at the C-terminus of Wolframin （WFS 1）. In addition, we performed mutational screening of WFS1 in 37 sporadic patients, 7--50 years of age, with LFSNHL. We detected a heterozygous c.2108G〉A substitution in exon 8 of WFSI, leading to p.R703H substitution in a patient. The H696 and R703 in WFS1 are highly conserved across species, including human, orangutan, rat, mouse, and frog （Xenopus）, Sequence analysis demonstrated the absence of c.2086C〉T or c.210gG〉A substitutions in the WFS1 genes among 200 unrelated control subjects of Chinese background, supporting the hypothesis that they represent causative mutations, and not rare polymorphisms. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype correlation for LFSNHL.展开更多
Cold atmospheric plasmas(CAPs)have shown great applicability in agriculture.Many kinds of CAP sources have been studied in agricultural applications to promote plant growth and cure plant diseases.We briefly review th...Cold atmospheric plasmas(CAPs)have shown great applicability in agriculture.Many kinds of CAP sources have been studied in agricultural applications to promote plant growth and cure plant diseases.We briefly review the state-of-the-art stimulating effects of atmospheric-pressure dielectricbarrier-discharge(AP-DBD)plasmas,after the direct or indirect treatment of plants for growth promotion and disease control.We then discuss the special demands on the characteristics of the CAP sources for their applications in plant mutation breeding.An atmospheric and room temperature plasma(ARTP)jet generator with a large plasma irradiation area,a high enough concentration of chemically reactive species and a low gas temperature is designed for direct plant mutagenesis.Experimental measurements of the electrical,thermal and optical features of the ARTP generator are conducted.Then,an ARTP-P(ARTP for plant mutagenesis)mutation breeding machine is developed,and a typical case of plant mutation breeding by the ARTP-P mutation machine is presented using Coreopsis tinctoria Nutt.seeds.Physical and agricultural experiments show that the newly-developed ARTP-P mutation breeding machine with a large irradiation area can generate uniform CAP jets with high concentrations of chemically reactive species and mild gas temperatures,and have signiflcant mutagenesis effects on the Coreopsis tinctoria Nutt.seeds.The ARTP-P mutation breeding machine may provide a platform for systematic studies on mutation mechanisms and results for various plant seeds under different operating conditions in future research.展开更多
A novel low-complexity iterative receiver for multiuser space frequency block coding (SFBC) system was proposed in this paper. Unlike the conventional linear minimum mean square error (MMSE) detector, which requires m...A novel low-complexity iterative receiver for multiuser space frequency block coding (SFBC) system was proposed in this paper. Unlike the conventional linear minimum mean square error (MMSE) detector, which requires matrix inversion at each iteration, the soft-in soft-out (SISO) detector is simply a parallel interference cancellation (PIC)-matched filter (MF) operation. The probability density function (PDF) of PIC-MF detector output is approximated as Gaussian, whose variance is calculated with a priori information fed back from the channel decoder. With this approximation, the log likelihood ratios (LLRs) of transmitted bits are under-estimated. Then the LLRs are multiplied by a constant factor to achieve a performance gain. The constant factor is optimized according to extrinsic information transfer (EXIT) chart of the SISO detector. Simulation results show that the proposed iterative receiver can significantly improve the system performance and converge to the matched filter bound (MFB) with low computational complexity at high signal-to-noise ratios (SNRs).展开更多
To elucidate the molecular mechanisms underlying cellular radioresistance, clinically relevant radioresistant cell lines were established via long-term exposure to X-rays with stepwise dose escalation. Established cel...To elucidate the molecular mechanisms underlying cellular radioresistance, clinically relevant radioresistant cell lines were established via long-term exposure to X-rays with stepwise dose escalation. Established cells continue to proliferate despite exposure to 2 Gy X-rays/day for more than 30 days, a standard protocol in cancer radiotherapy. DNA repair fidelity in radioresistant and the parental cells by evaluating the mutation frequency at the hypoxanthine phosphoribosyltransferase (HPRT) locus after exposure to X-rays was determined. Mutation spectrum at the HPRT locus was examined by multiplex polymerase chain reaction. Rejoining kinetics of X-ray-induced DNA double strand breaks (dsbs) was evaluated by the detection of phosphorylated histone H2AX (γH2AX) after X-irradiation. The fold increase in the HPRT mutation frequency due to acute radiation was similar between radioresistant and the parental cell lines. However, fractionated radiation (FR) consisting of 2 Gy X-rays/day increased the mutation frequency at the HPRT locus in parental but not in radioresistant cells. Analysis of the FR-induced mutations at the HPRT locus revealed a high frequency of deletion mutations (>70%) in parental but not in radioresistant cells. As assessed by γH2AX immunostaining, DNA dsbs induced by acute exposure to 10 Gy of X-rays were repaired to the control level within 7 days in radioresistant but not in the parental cells. Moreover, 2 Gy × 5 FR increased the number of γH2AX-positive cells in parental cultures but not in radioresistant cultures. DNA dsbs induced by 2 Gy/day FR are repaired with fidelity in radioresistant but not in parental cells.展开更多
基金supported by the National High Technology Research and Development Program of China(863 Program) to Huijun Yuan(No.2007AA02E466)Key Project of National Natural Science Foundation of China to Huijun Yuan (No.81030017)and to Pu Dai(No.30872862)
文摘Non-syndromic low-frequency sensorineural hearing loss （LFSNHL） is an unusual type of hearing loss in which frequencies ≤2000 Hz predominantly are affected. To date, different mutations in two genes, DIAPHI and WFSI, have been found to be associated with LFSNHL. Here, we report a five-generation Chinese family with postlingual and progressive LFSNHL. We mapped the disease locus to a 2.5 Mb region on chromosome 4p16 between markers SNP_A-2167174 and D4S431, overlapping with the DFNA6/14/38 locus. Sequencing of candidate gene revealed a heterozygous c.2086C〉T substitution in exon 8 of WFS1, leading to p.H696Y substitution at the C-terminus of Wolframin （WFS 1）. In addition, we performed mutational screening of WFS1 in 37 sporadic patients, 7--50 years of age, with LFSNHL. We detected a heterozygous c.2108G〉A substitution in exon 8 of WFSI, leading to p.R703H substitution in a patient. The H696 and R703 in WFS1 are highly conserved across species, including human, orangutan, rat, mouse, and frog （Xenopus）, Sequence analysis demonstrated the absence of c.2086C〉T or c.210gG〉A substitutions in the WFS1 genes among 200 unrelated control subjects of Chinese background, supporting the hypothesis that they represent causative mutations, and not rare polymorphisms. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype correlation for LFSNHL.
基金supported by the National Key Research and Development Program of China(No.2016YFD0102106)National Natural Science Foundation of China(Nos.11475103,21627812)。
文摘Cold atmospheric plasmas(CAPs)have shown great applicability in agriculture.Many kinds of CAP sources have been studied in agricultural applications to promote plant growth and cure plant diseases.We briefly review the state-of-the-art stimulating effects of atmospheric-pressure dielectricbarrier-discharge(AP-DBD)plasmas,after the direct or indirect treatment of plants for growth promotion and disease control.We then discuss the special demands on the characteristics of the CAP sources for their applications in plant mutation breeding.An atmospheric and room temperature plasma(ARTP)jet generator with a large plasma irradiation area,a high enough concentration of chemically reactive species and a low gas temperature is designed for direct plant mutagenesis.Experimental measurements of the electrical,thermal and optical features of the ARTP generator are conducted.Then,an ARTP-P(ARTP for plant mutagenesis)mutation breeding machine is developed,and a typical case of plant mutation breeding by the ARTP-P mutation machine is presented using Coreopsis tinctoria Nutt.seeds.Physical and agricultural experiments show that the newly-developed ARTP-P mutation breeding machine with a large irradiation area can generate uniform CAP jets with high concentrations of chemically reactive species and mild gas temperatures,and have signiflcant mutagenesis effects on the Coreopsis tinctoria Nutt.seeds.The ARTP-P mutation breeding machine may provide a platform for systematic studies on mutation mechanisms and results for various plant seeds under different operating conditions in future research.
基金The Science and Technology Committee of Shanghai Municipality ( No 06DZ15013,No03DZ15010)
文摘A novel low-complexity iterative receiver for multiuser space frequency block coding (SFBC) system was proposed in this paper. Unlike the conventional linear minimum mean square error (MMSE) detector, which requires matrix inversion at each iteration, the soft-in soft-out (SISO) detector is simply a parallel interference cancellation (PIC)-matched filter (MF) operation. The probability density function (PDF) of PIC-MF detector output is approximated as Gaussian, whose variance is calculated with a priori information fed back from the channel decoder. With this approximation, the log likelihood ratios (LLRs) of transmitted bits are under-estimated. Then the LLRs are multiplied by a constant factor to achieve a performance gain. The constant factor is optimized according to extrinsic information transfer (EXIT) chart of the SISO detector. Simulation results show that the proposed iterative receiver can significantly improve the system performance and converge to the matched filter bound (MFB) with low computational complexity at high signal-to-noise ratios (SNRs).
文摘To elucidate the molecular mechanisms underlying cellular radioresistance, clinically relevant radioresistant cell lines were established via long-term exposure to X-rays with stepwise dose escalation. Established cells continue to proliferate despite exposure to 2 Gy X-rays/day for more than 30 days, a standard protocol in cancer radiotherapy. DNA repair fidelity in radioresistant and the parental cells by evaluating the mutation frequency at the hypoxanthine phosphoribosyltransferase (HPRT) locus after exposure to X-rays was determined. Mutation spectrum at the HPRT locus was examined by multiplex polymerase chain reaction. Rejoining kinetics of X-ray-induced DNA double strand breaks (dsbs) was evaluated by the detection of phosphorylated histone H2AX (γH2AX) after X-irradiation. The fold increase in the HPRT mutation frequency due to acute radiation was similar between radioresistant and the parental cell lines. However, fractionated radiation (FR) consisting of 2 Gy X-rays/day increased the mutation frequency at the HPRT locus in parental but not in radioresistant cells. Analysis of the FR-induced mutations at the HPRT locus revealed a high frequency of deletion mutations (>70%) in parental but not in radioresistant cells. As assessed by γH2AX immunostaining, DNA dsbs induced by acute exposure to 10 Gy of X-rays were repaired to the control level within 7 days in radioresistant but not in the parental cells. Moreover, 2 Gy × 5 FR increased the number of γH2AX-positive cells in parental cultures but not in radioresistant cultures. DNA dsbs induced by 2 Gy/day FR are repaired with fidelity in radioresistant but not in parental cells.
