317 research outputs found
Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is thelargest known human gene and characterized by the huge size of its introns. Intron 2has been shown to include cryptic exons termed exons 2a and 2b, while intron 3 hasbeen shown to include a cryptic exon designated exon 3a. In the present study, weidentified 2 and 1 additional cryptic exons in introns 2 and 3, respectively. A previouslyunknown 157-bp insertion was identified between exons 2 and 3 of a dystrophin mRNAisolated from the lymphocytes of a dystrophinopathy patient with duplication of exons8-11. Since this sequence exhibited the typical characteristics of a genomic exon, wedesignated it 'exon 2c-l'. A more detailed examination revealed that a position 4 bpdownstream from the 5' end of exon 2c-l was also used as a splice acceptor site, and thisexon was designated 'exon 2c-s'. In the same patient, a 357-bp insertion was identifiedbetween exons 3 and 4. Since this sequence also showed the typical characteristics of anexon, and its 3' end was the same as the splice donor site of exon 3a, we designated thenovel cryptic exon 'exon 3a-l', and changed the name of the previously reported exon3a to 'exon 3a-s'. Among these novel cryptic exons, exon 3a-l was also incorporatedinto the dystrophin mRNA from normal lymphocytes, whereas exons 2c-l and 2c-s werenot. The physiological or pathophysiological roles of these novel cryptic exons remainto be clarified
Optical–optical double-resonance dual-comb spectroscopy with pump-intensity modulation
We apply an intensity-modulation technique to dual-comb spectroscopy to improve its detection sensitivity. The scheme is demonstrated via Doppler-free optical–optical double-resonance spectroscopy of Rb by modulating the intensity of a pump laser with frequencies set at rates 3 times lower and 50,000 times higher than the difference in the repetition rates of the two frequency combs. The signal-to-noise ratios are enhanced by 3 and 6 times for slow and fast modulations, respectively, compared to those of conventional dual-comb spectroscopy without any intensity modulation. The technique is widely applicable to pump-probe spectroscopy with dual-comb spectroscopy and provides high detection sensitivity
Lean Limit Expansion up to Lambda 2 by Multi-Point Microwave Discharge Igniter
The main challenge to run the engine at ultra-lean or high EGR conditions depends on robust ignition of the mixture i.e. generation of a repeatable and robust ignition kernel to subsequently ignite the fuel-air mixture. We had developed microwave enhanced ignition system in which regular spark is augmented by microwaves which generates a bigger size plasma where. large pool of active radicals effectively increased the initial flame speed, engine efficiency, extended the lean limit and resultant decrease in COV of IMEP. Recently, we developed another plasma-based ignition device named Microwave Discharge Igniter (MDI) which works on the principle of microwave resonation within a cavity. MDI is a compact 4.5 mm plug with a quarter coaxial cavity resonator built into its structures. It receives the microwave (MW) pulse signal at 2.45 GHz from a semiconductor-based MW generator which can be controlled to produce very precise pulse characteristics such as pulse width, pulse number and pulse frequency, with time resolution down to 0.1 μs. The MDI has been shown to have very good combustion performance, including dilution and lean limit extensions. An igniter for gasoline engine also needs to be robust. Hence, the MDI was put under stress and endurance tests. The tests were carried out inside a constant volume chamber at non-reactive condition up to 0.5 MPa. The MDI was controlled to discharge continuously for more than 20 million times, 124-hour straight, mimicking the standard lifetime of 20,000 km highway driving. The compact size of the igniter means that multi-point ignition inside the combustion chamber is possible. In this study, a 3-point MDI plug with M12 size was developed and tested inside a practical commercially available multi-cylinder engine to evaluate the performance of multi-point ignition. The lean limit was compared with a standard spark ignition system at 1460 rpm engine speed and 20 Nm engine torque condition. As expected, 2-point ignition performed better than single-point, reaching the air-fuel ratio of 31 (approximately Lambda, λ = 2.1) in cylinders #1 and #3. However, the variance in IMEP of cylinder #2 was higher than that of cylinder #1 and #3 at the same airfuel ratio for both spark ignition and multi-point MDI. This is caused by cylinder difference of combustion due to the mounting platform constraint imposed on the intake manifolds. Even though the engine used for this study was not optimally designed for higher lean limits at the chosen conditions of this study, the multi-point MDI demonstrated a better load and emission performance tests maintaining exhaust gas temperatures below 300°C and achieving single digit ppm of NO compound emission
Doppler-free dual-comb spectroscopy of Rb using optical-optical double resonance technique
We present a Doppler-free high-resolution dual-comb spectroscopy technique in which a dual-comb system is employed to perform optical-optical double-resonance (OODR) spectroscopy. In our experimental study, Doppler-free high-resolution and high-frequency-accuracy broadband measurements were realized using the proposed OODR dual-comb spectroscopic technique, which does not require high-power-per-mode frequency combs. We observed fully resolved hyperfine spectra of 5P3/2 - 4D5/2, 4D3/2 transitions of Rb at 1530 nm and precisely determined the absolute frequencies of the transitions, with an uncertainty of less than 1 MHz. The variations of the OODR spectral line shapes due to power broadening and alignment and the effects of polarization on the dual-comb OODR spectra were also analyzed. This study provides a widely applicable technique for Doppler-free dual-comb spectroscopy of various gaseous species
Synthesis and Properties of Sila[n]helicenes via Dehydrogenative Silylation of C-H Bonds under Rhodium Catalysis
Use of a rhodium catalyst with (R)-(S)-BPPFA ligand allows efficient synthesis of sila[n]helicenes via dehydrogenative silylation of C-H bonds. By selecting the proper ligands, the current method provides the ability to prepare unsymmetrical sila[n]helicene derivatives without any oxidants. The resulting sila[6]helicene is a rare example of a five-membered ring-fused [6]helicene, which was isolated as a single pure enantiomer without substituents on the terminal benzene rings
PNLH related to Aspergillus infection
Aspergillus nodules (AN) are an unusual form of chronic pulmonary aspergillosis. On the other hand, pulmonary nodular lymphoid hyperplasia (PNLH) is classified as a reactive pulmonary lymphoproliferative disorder. A 65-year-old male was referred to our hospital due to a nodule in the left upper lobe. Histologically, a mixture of prominent lymphoid follicular formation, and hyaline necrosis were observed. Grocott staining revealed morphological forms of Aspergillus spp. in the necrosis. The final clinical diagnosis was suspected AN histologically consistent with PNLH. This case suggests that there may be PNLH cases in which local infection with Aspergillus contributes to its pathophysiology
Transcriptional Regulation of ATP2C1 Gene by Sp1 and YY1 and Reduced Function of its Promoter in Hailey–Hailey Disease Keratinocytes
Hailey–Hailey disease (HHD) is a blistering skin disease caused by malfunction of the Ca2+-dependent ATPase, ATP2C1. In this study, key regulatory regions necessary for the expression of the gene encoding human ATP2C1 were investigated. The transient reporter assay demonstrated that region +21/+57 was necessary for activation of the ATP2C1 promoter, and the electrophoretic mobility shift assay demonstrated that the region was recognized by the transcription factors, Sp1 and YY1. In accordance with this result, when Sp1 or YY1 was overexpressed in keratinocytes, an obvious increase in ATP2C1 promoter activity was observed, which was in contrast with the case where a mutant promoter lacking the binding sites for Sp1 and YY1 was used as the reporter. Ca2+-stimulation signal increased nuclear Sp1 proteins and ATP2C1 mRNA levels in normal keratinocytes. In contrast, both these increases were suppressed in keratinocytes from HHD patients. These results indicate that Sp1 and YY1 transactivate the human ATP2C1 promoter via cis-enhancing elements and that incomplete upregulation of ATP2C1 transcription contributes to the keratinocyte-specific pathogenesis of HHD. This is a report describing the regulation of the expression of ATP2C1
Penggunaan Tenaga Kerja Asing Oleh Perseroan Terbatas Penanam Modal Asing Yang Berinvestasi Di Indonesia
A number of foreign workers who are currently working in Indonesia is not in accordance with the legislation that exists. The foreign workers doing menial jobs and do not have immigration documents are complete. They are working on a number of foreign investors in a number of business sectors, especially in construction and infrastructure. The type of research that is done is the normative legal research i.e. Research which focuses on positive form of legal norms and
regulations. Types of data used include primary law, secondary legal materials and legal materials tertiary. The use of foreign labor by a limited liability foreign investors who invest in Indonesia must comply with the legislation that exists. The foreign workers are only allowed to occupy positions as commissioners, directors, and experts who are accompanied by a complete immigration administrative documents
Synthesis and Properties of Sila[n]helicenes via Dehydrogenative Silylation of CH Bonds under Rhodium Catalysis
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