| 61. |
- Ji, Xuemei, et al.
(author)
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Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk
- 2018
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In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 9, s. 1-15
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) data on 409 individuals to identify and validate the underlying pathways and to investigate the combined effect of genes from the identified susceptibility pathways. The KEGG neuroactive ligand receptor interaction pathway, two Reactome pathways, and 22 Gene Ontology terms were identified and replicated to be significantly associated with lung cancer risk, with P values less than 0.05 and FDR less than 0.1. Functional annotation of eQTL analysis results showed that the neuroactive ligand receptor interaction pathway and gated channel activity were involved in lung cancer risk. These pathways provide important insights for the etiology of lung cancer.
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| 62. |
- Ji, Xuemei, et al.
(author)
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Protein-altering germline mutations implicate novel genes related to lung cancer development
- 2020
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Journal article (peer-reviewed)abstract
- Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio=8.82, P=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
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| 63. |
- Joshi, Deep C., et al.
(author)
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Room temperature ferrimagnetism in Yb-doped relaxor ferroelectric PbFe2/3W1/3O3
- 2019
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In: Applied Physics Letters. - : AMER INST PHYSICS. - 0003-6951 .- 1077-3118. ; 115:7
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Journal article (peer-reviewed)abstract
- We report ferrimagnetism and reentrant relaxor ferroelectricity near room temperature in a Yb-doped PbFe2/3W1/3O3 cubic perovskite. Structural analysis reveals the presence of a single cubic perovskite phase, with the m space group [lattice parameter: a=8.0112(3) angstrom], and partial B-site ordering. The B-site ordering yields uncompensated magnetic moments in the antiferromagnetic structure of PbFe2/3W1/3O3 and ferrimagnetism near room temperature. An excess moment of similar to 0.6 mu(B)/B-site may be estimated from magnetic hysteresis curves recorded up to 50kOe at 5K. The temperature dependent magnetodielectric study reveals a sequential phase transition from a long-range ferroelectric state (across 280K) to a short-range relaxor ferroelectric state (across 190K). The long-range ferroelectric ordering is found to be more affected by the application of external magnetic fields than the relaxor phase.
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| 64. |
- Koroleva, A. F., et al.
(author)
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Synthesis, X-ray Diffraction Characterization, Mössbauer Spectroscopy, and Dielectric Properties of Solid Solutions in the PbFe2/3W1/3O3–PbSc2/3W1/3O3 System
- 2018
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In: Inorganic Materials (Neorganicheskie materialy). - 0020-1685 .- 1608-3172. ; 54:3, s. 288-294
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Journal article (peer-reviewed)abstract
- Ceramic Pb(Fe1–xSc x )2/3W1/3O3 samples with 0 ≤ x ≤ 1 have been prepared and characterized by X-ray diffraction, Mössbauer spectroscopy, and dielectric and pyroelectric measurements. The stoichiometry ranges of the perovskite solid solutions in this system have been identified, their structural parameters have been determined, and their dielectric permittivity, dielectric loss tangent, resistivity, and thermally stimulated depolarization current have been measured as functions of temperature. The composition dependences of the dielectric properties for the solid solutions have been obtained. The solid solutions have been shown to exhibit ferroelectric relaxor properties, with a well-defined maximum in their permittivity in the range 180–250 K.
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| 65. |
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| 66. |
- Kotecha, S, et al.
(author)
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Congenital diaphragmatic hernia
- 2012
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In: The European respiratory journal. - : European Respiratory Society (ERS). - 1399-3003 .- 0903-1936. ; 39:4, s. 820-829
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Journal article (peer-reviewed)
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| 67. |
- Lum, S., et al.
(author)
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Early detection of cystic fibrosis lung disease: multiple-breath washout versus raised volume tests
- 2007
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In: Thorax. - : BMJ. - 0040-6376. ; 62:4, s. 341-7
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Journal article (peer-reviewed)abstract
- BACKGROUND: Lung clearance index (LCI), a measure of ventilation inhomogeneity derived from the multiple-breath inert gas washout (MBW) technique, has been shown to detect abnormal lung function more readily than spirometry in preschool children with cystic fibrosis, but whether this holds true during infancy is unknown. OBJECTIVES: To compare the extent to which parameters derived from the MBW and the raised lung volume rapid thoraco-abdominal compression (RVRTC) techniques identify diminished airway function in infants with cystic fibrosis when compared with healthy controls. METHODS: Measurements were performed during quiet sleep, with the tidal breathing MBW technique being performed before the forced expiratory manoeuvres. RESULTS: Measurements were obtained in 39 infants with cystic fibrosis (mean (SD) age 41.4 (22.0) weeks) and 21 controls (37.0 (15.1) weeks). Infants with cystic fibrosis had a significantly higher respiratory rate (38 (10) vs 32 (5) bpm) and LCI (8.4 (1.5) vs 7.2 (0.3)), and significantly lower values for all forced expiratory flow-volume parameters compared with controls. Girls with cystic fibrosis had significantly lower forced expiratory volume (FEV(0.5) and FEF(25-75 )) than boys (mean (95% CI girls-boys): -1.2 (-2.1 to -0.3) for FEV(0.5) Z score; FEF(25-75): -1.2 (-2.2 to -0.15)). When using both the MBW and RVRTC techniques, abnormalities were detected in 72% of the infants with cystic fibrosis, with abnormalities detected in 41% using both techniques and a further 15% by each of the two tests performed. CONCLUSIONS: These findings support the view that inflammatory and/or structural changes in the airways of children with cystic fibrosis start early in life, and have important implications regarding early detection and interventions. Monitoring of early lung disease and functional status in infants and young children with cystic fibrosis may be enhanced by using both MBW and the RVRTC.
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| 68. |
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| 69. |
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| 70. |
- Serovaiskii, Alexandr, et al.
(author)
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Synthesis of Perovskite-Type BiScO3 Ceramics and their Dielectric and Infrared Characterization
- 2022
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In: The Journal of Physical Chemistry Letters. - : American Chemical Society (ACS). - 1948-7185. ; 13:43, s. 10114-10119
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Journal article (peer-reviewed)abstract
- BiScO3 compound was obtained in the form of dense ceramic with a perovskite-type structure, and its complex characterization was determined for the first time. The corresponding synthesis procedure is described in detail. It is demonstrated that the temperature region of the phase stability at atmospheric pressure lies at T < 700 degrees C (973 K). It is shown that the crystal structure of the BiScO3 ceramic is centrosymmetric. Dielectric measurements of the synthesized sample performed at frequencies 25 Hz to 1 MHz and at temperatures 10-340 K show no changes typical for phase transition. Room-temperature infrared (30-15600 cm(-1)) and Raman (90-2000 cm(-1)) spectra of the prepared BiScO3 ceramic are measured, and information on the parameters of phonon resonances is obtained. The number of infrared modes exceeds that predicted by the factor group analysis of the noncentrosymmetric space group C2. The reason for selection rules violation can be associated with the disorder of the crystal structure and local distortions induced by the lone pair of electrons of Bi3+.
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