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101.
Charles Coutton Guillaume Martinez Zine-Eddine Kherraf Amir Amiri-Yekta Magalie Boguenet Antoine Saut Xiaojin He Feng Zhang Marie Cristou-Kent Jessica Escoffier Marie Bidart Véronique Satre Béatrice Conne Selima Fourati Ben Mustapha Lazhar Halouani Ouafi Marrakchi Mounir Makni Habib Latrous Pierre F. Ray 《American journal of human genetics》2019,104(2):331-340
102.
Myrna Saouda Ahmad Mansour Y. Bou Moglabey E. El Zir Mirna Mustapha Hassan Chaib A. Nehmé André Mégarbané Jacques Loiselet Christine Petit R. Slim 《Human genetics》1998,103(2):193-198
Usher syndrome (USH) is an autosomal-recessive disease characterized by neurosensory deafness and progressive retinitis pigmentosa.
So far, three clinical types of Usher syndrome have been defined, and are caused by defects at more than eight loci. We report
the linkage analysis of seven Lebanese families with Usher syndrome, two with type I (USH1) and five with type II (USH2).
We demonstrate that one family is linked to the USH1C locus, a rare form of USH1 only reported in the French Acadian population.
Linkage analysis of the five USH2 families with recently mapped loci allowed us to reduce the USH2A candidate region to a
very small interval flanked by D1S2646/D1S2629 and D1S2827. Furthermore, haplotype comparison between the different families
suggests a founder effect for the USH2A mutation among the different Lebanese ethnic groups, while a genetic heterogeneity
is noted for Usher syndrome type I.
Received: 9 January 1998 / Accepted: 23 March 1998 相似文献
103.
104.
105.
Characterization of a novel vip3-type gene from Bacillus thuringiensis and evidence of its presence on a large plasmid 总被引:2,自引:0,他引:2
A novel vip3-type gene named vip3LB has been isolated from Bacillus thuringiensis strain BUPM95. The corresponding secreted vegetative insecticidal protein was active against the lepidopteran insect Ephestia kuehniella. The vip3LB gene was shown, for the first time, to be carried by the large plasmid containing the cry1Ia genes of B. thuringiensis. The nucleotide sequence predicted a protein of 789 amino acids residues with a calculated molecular mass of 88.5kDa. Both nucleotide and amino acid sequences similarity analysis revealed that vip3LB is a new vip3-type gene, presenting several differences with the other vip3-type genes. Heterologous expression of the vip3LB under the control of the strong promoter P(BAD) was performed in Escherichia coli and the produced protein conferred insecticidal activity against Ephestia kuehniella. This novel vegetative insecticidal protein Vip3LB could be a very useful biological control agent. 相似文献
106.
107.
Summary Two-color competitive in situ hybridization was used to cytogenetically order four Yp cosmid probes, located in the pseudo-autosomal and TDF regions. The probes were hybridized by pairs to metaphase and interphase chromosomes. On metaphase chromosomes, determination of order between sequences separated by 3 Mb from each other was possible on a statistical basis, whereas the relative position of sequences 0.6Mb apart could not be determined. On interphase chromosomes the complete order between sequences separated by 0.6– 6Mb was obtained rapidly by measuring the distances between two cosmid spots of every cosmid pair used in 28 to 60 nuclei. Results demonstrate the potential power of fluorescent in situ hybridization at interphase for high resolution cosmid mapping. 相似文献
108.
Rebhi L Kchok K Omezzine A Kacem S Rejeb J Ben Hadjmbarek I Belkahla R Boumaiza I Moussa A Ben Rejeb N Nabli N Boughzala E Ben Abdelaziz A Bouslama A 《Molecular biology reports》2012,39(11):9893-9901
Lipoprotein lipase (LPL) is the rate-limiting enzyme in the hydrolysis of triglyceride-rich lipoprotein particles (Chylomicrons and very-low-density lipoprotein). LPL polymorphisms' effects on lipids and coronary artery disease are controversial among studies and populations. Our aim was to study the association between six polymorphisms, haplotypes and significant coronary stenosis (SCS), disease severity and lipid parameters in Tunisian patients. LPL PvuII, 93 T/G, 188 G/E, HindIII, N291S and D9N polymorphisms were analyzed in 316 patients who underwent coronary angiography. Assessment of coronary angiograms identified SCS as the presence of stenosis >50?% in at least one major coronary artery. The stenosis severity was determined by using Gensini score and vessels number. A significant association of SCS with TT of the HindIII polymorphism was showed (odds ratio (OR): 2.84, 95?% CI, 1.19-7.40, p?=?0.017) and TG (OR: 1.77, 95?% CI, 1.99-2.82, p?=?0.033). The mutated HindIII genotype was significantly associated with increased TG and ApoB/ApoA-I ratio and with decreased HDL-C. Haplotype analysis showed that OR of SCS associated with the CTGTAG haplotype was 2.12 (95?% CI 1.05-4.25, p?=?0.032) and with CGGGAA was 0.71 (95?% CI 0.26-1.95, p?=?0.022) compared to the CTGTAA. Significant difference in Gensini score was observed among HindIII genotype and haplotypes. A significant association between the mutated genotype of HindIII polymorphism and decreased HDL-C level and increased ApoB/ApoA-I ratio and TG level was showed. Our results suggest that HindIII and D9N polymorphisms and CTGTAG haplotype seem to be considered as marker of predisposition to coronary stenosis. In another hand, HindIII and haplotypes were related to stenosis severity. 相似文献
109.
Clement Gaignard Nesrine Gargouch Pascal Dubessay Cedric Delattre Guillaume Pierre Celine Laroche Imen Fendri Slim Abdelkafi Philippe Michaud 《Biotechnology advances》2019,37(1):193-222
Research on marine microalgae has been abundantly published and patented these last years leading to the production and/or the characterization of some biomolecules such as pigments, proteins, enzymes, biofuels, polyunsaturated fatty acids, enzymes and hydrocolloids. This literature focusing on metabolic pathways, structural characterization of biomolecules, taxonomy, optimization of culture conditions, biorefinery and downstream process is often optimistic considering the valorization of these biocompounds. However, the accumulation of knowledge associated with the development of processes and technologies for biomass production and its treatment has sometimes led to success in the commercial arena. In the history of the microalgae market, red marine microalgae are well positioned particularly for applications in the field of high value pigment and hydrocolloid productions. This review aims to establish the state of the art of the diversity of red marine microalgae, the advances in characterization of their metabolites and the developments of bioprocesses to produce this biomass. 相似文献
110.
Marit J. van Gils Ayesha Lavell Karlijn van der Straten Brent Appelman Ilja Bontjer Meliawati Poniman Judith A. Burger Melissa Oomen Joey H. Bouhuijs Lonneke A. van Vught Marleen A. Slim Michiel Schinkel Elke Wynberg Hugo D. G. van Willigen Marloes Grobben Khadija Tejjani Jacqueline van Rijswijk Jonne L. Snitselaar Tom G. Caniels Amsterdam UMC COVID- S/HCW study group Alexander P. J. Vlaar Maria Prins Menno D. de Jong Godelieve J. de Bree Jonne J. Sikkens Marije K. Bomers Rogier W. Sanders 《PLoS medicine》2022,19(5)
BackgroundEmerging and future SARS-CoV-2 variants may jeopardize the effectiveness of vaccination campaigns. Therefore, it is important to know how the different vaccines perform against diverse SARS-CoV-2 variants.Methods and findingsIn a prospective cohort of 165 SARS-CoV-2 naive health care workers in the Netherlands, vaccinated with either one of four vaccines (BNT162b2, mRNA-1273, AZD1222 or Ad26.COV2.S), we performed a head-to-head comparison of the ability of sera to recognize and neutralize SARS-CoV-2 variants of concern (VOCs; Alpha, Beta, Gamma, Delta and Omicron). Repeated serum sampling was performed 5 times during a year (from January 2021 till January 2022), including before and after booster vaccination with BNT162b2. Four weeks after completing the initial vaccination series, SARS-CoV-2 wild-type neutralizing antibody titers were highest in recipients of mRNA-1273, followed by recipients of BNT162b2 (geometric mean titers (GMT) of 358 [95% CI 231–556] and 214 [95% CI 153–299], respectively; p<0.05), and substantially lower in those vaccinated with the adenovirus vector-based vaccines AZD1222 and Ad26.COV2.S (GMT of 18 [95% CI 11–30] and 14 [95% CI 8–25] IU/ml, respectively; p<0.001). VOCs neutralization was reduced in all vaccine groups, with the greatest reduction in neutralization GMT observed against the Omicron variant (fold change 0.03 [95% CI 0.02–0.04], p<0.001). The booster BNT162b2 vaccination increased neutralizing antibody titers for all groups with substantial improvement against the VOCs including the Omicron variant. We used linear regression and linear mixed model analysis. All results were adjusted for possible confounding of age and sex. Study limitations include the lack of cellular immunity data.ConclusionsOverall, this study shows that the mRNA vaccines appear superior to adenovirus vector-based vaccines in inducing neutralizing antibodies against VOCs four weeks after initial vaccination and after booster vaccination, which implies the use of mRNA vaccines for both initial and booster vaccination.Marit J. van Gils and colleagues investigate antibody responses against diverse emerging SARS-CoV-2 variants induced by four different SARS-CoV-2 vaccines in health care workers in the Netherlands. 相似文献