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| 2. |
- Denomme-Pichon, AS, et al.
(författare)
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Solve-RD: the ITHACA perspective
- 2022
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Ingår i: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 236-237
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 5. |
- Khodorkovskii, M. A., et al.
(författare)
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Electronic spectra of ArXe molecules in the region of Xe* (5d, 7s, 7p, 6p '), 80 300-89 500 cm(-1), using resonantly enhanced multiphoton ionization
- 2010
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Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 43:23, s. 235101-
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Tidskriftsartikel (refereegranskat)abstract
- The electronic spectra of ArXe molecules in the 80 300-89 500 cm(-1) region were recorded by (2 + n) and (3 + n) REMPI methods. The vibrational progressions attributed to transitions of molecules from the ground state to the bounded excited state and wide unstructured bands related to transitions to the continuous upper state were obtained. The molecular constants of ArXe* were calculated for all the observed progressions in the 80 300-87 000 cm(-1) region as an approximation of an anharmonic oscillator and the Morse potential. For different excited states the energy of harmonic oscillator and the dissociation energy are changed from 10 to 100 cm(-1) and from 70 to 750 cm(-1), respectively.
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| 6. |
- Khodorkovskii, M. A., et al.
(författare)
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Electronic spectra of ArXe molecules in the region of Xe* (6s ', 6p, 5d), 77 000-80 200 cm(-1), using resonantly enhanced multiphoton ionization
- 2010
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Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 43:15, s. 155101-
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Tidskriftsartikel (refereegranskat)abstract
- The excited electronic states of ArXe molecules in the region 77 000-80 200 cm(-1) were studied using the (2+1) and (3+1) resonance-enhanced multiphoton ionization methods. The use of different methods of multi-photon excitation and Ar+ ion registration allowed us to obtain some new data. Molecular constants were obtained for previously unknown excited states of molecules with the following dissociation limits: ArXe* -> (ArS0)-S-1+Xe*6p[5/2](3) with Omega = 2, 3 symmetry; (ArS0)-S-1+Xe*6p[3/2](2) with Omega = 1, 2 symmetry; (XeS1)-S-0 -> Xe*6s'[1/2](1)(0) with Omega = 0(+) symmetry.
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| 7. |
- Khodorkovskii, M. A., et al.
(författare)
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Electronic spectra of XeNe molecules in the range 77100-90100 cm(-1) near Xe* (6p, 5d, 6p', 7s, 7p, 6d) obtained by the (3+1) REMPI and (2+1) REMPI methods
- 2010
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Ingår i: Optics and Spectroscopy. - 0030-400X .- 1562-6911. ; 108:6, s. 899-914
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Tidskriftsartikel (refereegranskat)abstract
- The electronic spectra of XeNe molecules in the range of 77100-90100 cm(-1) are measured by the method of laser resonance multiphoton ionization in a supersonic jet. The photoionization spectra are obtained upon two- and three-photon excitations of molecules and their ionization by the next photon. In the range of 80300-90100 cm(-1) near Xe*(5d, 6p', 6d, 7s, and 7p), the spectra are obtained for the first time. A whole number of vibrational systems are measured in this range. The majority of vibrational systems near Xe* (5d, 6d, 7p, and 7s) are located in the red range with respect to their dissociation limits. In the blue range with respect to the dissociation limits, continua corresponding to transitions of molecules from the ground state to repulsive potential curves of excited states are detected. For a number of excited states of XeNe molecules, the vibrational analysis is performed and molecular constants are estimated.
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| 10. |
- Hammarsjö, A., et al.
(författare)
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
- 2021
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Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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| 17. |
- Lundström, Ulla, et al.
(författare)
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Advances in understanding the podzolization process resulting from a multidisciplinary study of three coniferous forest soils in the Nordic Countries
- 2000
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Ingår i: Geoderma. - 0016-7061 .- 1872-6259. ; 94:04-feb, s. 335-353
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Tidskriftsartikel (refereegranskat)abstract
- Geochemical, mineralogical, micromorphological, microbiological, hydrochemical and hpdrological joint investigations were performed at two coniferous podzolic sites in the north of Sweden and at one in the south of Finland. Mycorrhizal fungi were found to create numerous pens (3-10-mu m diameter) in many weatherable mineral grains in the eluvial (E) horizon. During the growing season, identified low molecular weight (LMW) organic acids such as citric, shikimic, oxalic and fumaric acids comprised 0.5-5% of the DOC and 0.5-15% of the total acidity in soil solutions. Between 20% and 40% of the dissolved Al was bound to the identified LMW organic acids. Mineral dissolution via complexing LMW acids, probably exuded in part by the mycorrhiza hyphae, is likely to be a major weathering process in podzols. We found no evidence for a decreasing C/metal ratio of the migrating organo-metal complexes that could explain the precipitation of secondary Fe and AL in the illuvial (B) horizon. Instead, microbial degradation of organic ligands resulting in the release of ionic,Al and Fe to the soil solution may he an important process facilitating the formation of solid Al-SI-OH and Fe-OH phases in the podzol B horizon. However, within the B horizon transport as proto-imogilite (PI) sols might be possible. In the B horizon, the extractable,Al and Fe was predominantly inorganic. The large specific surface area (SSA) removable by oxalate extraction, the high point of zero charge salt effect (PZSE), the low cation exchange capacity (CEC) and the high sulphate exchange capacity (SEC), painted to the presence of short-range ordered variable charge phases. Imogolite type material (ITM) was indeed identified in all B horizons by IR spectroscopy and crystalline imogolite was found in the deep B horizon of one profile. Mossbauer spectroscopy indicated that Fe in the form of ferrihydrite was formed by intergrowth with an Al-Si-OH phase. The high amounts of Fe and Al transported from the O to the E horizon indicate that there could be an upward transport of these elements before they are leached to the B horizon. We hypothesize that the LMW Al complexes an transported by hyphae to the mor (O) layer, partly released and subsequently complexed by high molecular weight (HMW) acids.
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| 20. |
- Wang, T, et al.
(författare)
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
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Tidskriftsartikel (refereegranskat)abstract
- Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E−07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
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| 21. |
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| 22. |
- Galakhov, V. R., et al.
(författare)
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Electronic structure and x-ray spectra of defective oxides LixCoO2
- 2006
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 74:4, s. 045120-
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Tidskriftsartikel (refereegranskat)abstract
- X-ray absorption, resonant x-ray emission, and x-ray photoelectron spectra of the valence band and core levels have been measured for LixCoO2 (0.6 <= x <= 1.0). Resonant O K alpha x-ray emission spectra of LiCoO2 showed localized excitonic states due to a dd transition between unoccupied and occupied Co 3d states. On the basis of measurements of Co 3s x-ray photoelectron and Co 2p and O 1s x-ray absorption spectra it was established that in defective cobaltites the electronic holes are localized mainly in O 2p states. Evidence of phase separation in LixCoO2 has been found.
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