| 1. |
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| 2. |
- Batkovskyte, D., et al.
(author)
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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
- 2023
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In: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431 .- 1523-4681. ; 38:5, s. 692-706
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Journal article (peer-reviewed)abstract
- Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located.
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| 3. |
- Hammarsjö, A., et al.
(author)
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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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In: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
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Journal article (peer-reviewed)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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| 4. |
- Avdic, H. B., et al.
(author)
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Reduced effects of social feedback on learning in Turner syndrome
- 2023
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In: Scientific Reports. - : Springer Nature. - 2045-2322. ; 13:1
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Journal article (peer-reviewed)abstract
- Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X chromosomes. Previous studies indicate that Turner syndrome is associated with challenges in social skills, but the underlying mechanisms remain largely unexplored. A possible mechanism is a reduced social influence on learning. The current study examined the impact of social and non-social feedback on learning in women with Turner syndrome (n=35) and a sex- and age-matched control group (n=37). Participants were instructed to earn points by repeatedly choosing between two stimuli with unequal probabilities of resulting in a reward. Mastering the task therefore required participants to learn through feedback which of the two stimuli was more likely to be rewarded. Data were analyzed using computational modeling and analyses of choice behavior. Social feedback led to a more explorative choice behavior in the control group, resulting in reduced learning compared to non-social feedback. No effects of social feedback on learning were found in Turner syndrome. The current study thus indicates that women with Turner syndrome may be less sensitive to social influences on reinforcement learning, than the general population.
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| 19. |
- Glans, Peter, et al.
(author)
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Resonant x-ray emission spectroscopy of molecular oxygen
- 1996
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In: Physical Review Letters. - : AMER INST PHYSICS. - 0031-9007. ; 76:14, s. 2448-2451
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Journal article (peer-reviewed)abstract
- Resonant soft x-ray emission spectroscopy has been applied to study the issue of symmetry breaking upon core-hole excitation in molecular oxygen. The results provide direct evidence that the inversion symmetry is not broken in the core-excited states. Furthermore, the experiments themselves demonstrate a new experimental technique of broad applicability for studies of electronic structure and excitation dynamics in free atoms and molecules.
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| 20. |
- Gunnelin, K, et al.
(author)
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Assigning x-ray absorption spectra by means of soft-x-ray emission spectroscopy
- 1998
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In: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947. ; 57:2, s. 864-872
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Journal article (peer-reviewed)abstract
- The possibility to symmetry assign x-ray absorption spectra using x-ray emission spectroscopy is demonstrated. The oxygen K spectra of CO2 are used to illustrate the possibility to assign core excitations through excitation-energy and angular dependence of resonantly excited x-ray emission spectra. The Rydberg-associated structures just below the ionization threshold in the O K x-ray absorption spectrum are assigned to be mainly due to excitations to orbitals of sigma(g) character. The results, which contradict some previous literature assignments, are supported by quantum-chemical calculations.
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| 21. |
- Guo, J. -H, et al.
(author)
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Electronic structure study of the bases in DNA duplexes by in situ photon-in/photon-out soft X-ray spectroscopy
- 2010
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In: Journal of Electron Spectroscopy and Related Phenomena. - : Elsevier BV. - 0368-2048 .- 1873-2526. ; 181:2-3, s. 197-201
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Journal article (peer-reviewed)abstract
- Understanding protein functionality is of fundamental importance in biochemistry. Soft X-ray transitions, where the core-level vacancies are filled by the valence-orbital electrons, give direct information about the chemical bonding. Soft X-ray absorption and emission study of poly(dG) -poly(dC) in aqueous solutions can elucidate the relation between the structure and functionality of proteins. We report the N K-edge soft X-ray absorption (XAS) and resonant soft X-ray emission spectroscopy (XES) to characterize the electronic structure near the Fermi level of DNA duplexes to specify the charge migration mechanism. Since N atoms are included in only bases in DNA duplexes, the XES spectra excited from N Is to unoccupied states purely extract the electronic orbital features of the bases in DNA. The fact that N atoms in different bonding environments form well-defined structure has been determined. The experimental findings provide the evidence for the charge-hopping and/or charge-transfer effects in understanding of electric conduction in DNA duplexes when electrons pass through the pi* states of DNA bases.
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| 22. |
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| 23. |
- Guo, J.-H., et al.
(author)
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How the phenyle rings (benzene) act as building blocks in pi conjugated polymers
- 1998
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In: Advanced Light Source. - Berkeley : Ernest Orlando Lawrence Berkeley National Laboratory, University of California Berkeley, California, USA. ; , s. 129-132
-
Book chapter (other academic/artistic)abstract
- Organic conjugated polymers have the electronic structure of semiconductors and can be doped to become good conductors (1). Conjugated polymers are now used as active materials in a wide variety of prototype applications such as light emitting diodes [2] and organic transistors [3,4]. Most of the interesting chemistry and physics of conjugated polymers is associated with the details of the electronic structure at the valence and conduction band edges and, in this connection, various electron spectroscopies can be used as tools for diagnosis of the relevant electronic and geometric properties....
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| 24. |
- Guo, J.-H., et al.
(author)
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Resonant and nonresonant x-ray scattering spectra of some poly(phenylenevinylene)s
- 1998
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In: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 108:14, s. 5990-5996
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Journal article (peer-reviewed)abstract
- The electronic structure of some poly(phenylenevinylene)s have been investigated by resonant and nonresonant x-ray inelastic scattering spectroscopies. The nonresonant as well as all resonant spectra for each polymer demonstrate benzene-like features, indicating a local character of the x-ray emission in which the phenyl ring acts as a building block. Theoretical simulations of x-ray energies and intensities taking the repeat unit as a model molecule of the polymer agree with the experimental spectra fairly well. The edges of the occupied bands have been identified in the nonresonant spectra of each polymer. By subtracting the emission energy of the highest occupied molecular orbital in the nonresonant spectrum from the core excitation energy in the resonant spectrum an alternative way to determine the optical band gap is obtained. As for free benzene the outer π band in the polymer spectra show a depletion of the emission going from the nonresonant to the resonant x-ray emission spectra. It is demonstrated that this transition, which is strictly symmetry forbidden for free benzene, becomes effectively forbidden in the polymer case as a result of strong interference effects, and it is argued that this is the general case for resonant x-ray emission of conjugated polymers as far as the frozen orbital approximation holds.
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| 25. |
- Guo, J.H., et al.
(author)
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Resonant excitation x-ray-fluorescence from C-60
- 1995
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In: Physical Review B Condensed Matter. - 0163-1829 .- 1095-3795. ; 52, s. 10681-
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Journal article (peer-reviewed)abstract
- X-ray fluorescence of condensed C-60 has been recorded in high resolution using monochromatic synchrotron radiation excitation. Strong intensity modulation of constituent spectral features is observed with varying excitation energy up to 10 eV above threshold. The energy dependence is interpreted as due to resonant inelastic x-ray scattering, leading to symmetry selection rules governing the two-photon process in the fully symmetric molecule.
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| 26. |
- Guo, J. H., et al.
(author)
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X-ray emission spectroscopy of hydrogen bonding and electronic structure of liquid water
- 2002
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In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 89:13
-
Journal article (peer-reviewed)abstract
- We use x-ray emission spectroscopy to examine the influence of the intermolecular interaction on the local electronic structure of liquid water. By comparing x-ray emission spectra of the water molecule and liquid water, we find a strong involvement of the a(1)-symmetry valence-orbital in the hydrogen bonding. The local electronic structure of water molecules, where one hydrogen bond is broken at the hydrogen site, is separately determined. Our results provide an illustration of the important potential of x-ray emission spectroscopy for elucidating basic features of liquids.
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| 27. |
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| 28. |
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| 29. |
- Helsmoortel, Celine, et al.
(author)
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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- 2014
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:4, s. 380-
-
Journal article (peer-reviewed)abstract
- Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities(1), a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile- X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in nextgeneration sequencing, for the large majority of cases no molecular diagnosis can be established(2-7). Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/ SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD- associated genes known to date.
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| 30. |
- Jacob, P., et al.
(author)
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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
- 2023
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In: NPJ GENOMIC MEDICINE. - 2056-7944. ; 8:1
-
Journal article (peer-reviewed)abstract
- Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasia affecting primarily the lower limbs. The genetic cause was first reported in 2019 by Le Caignec et al., and six disease-causing variants in the gene coding for a ribosomal protein, RPL13 (NM_000977.3) have been identified to date. This study presents clinical and radiographic data from 12 affected individuals aged 2-64 years from seven unrelated families, showing highly variable manifestations. The affected individuals showed a range from mild to severe short stature, retaining the same radiographic pattern of spondylar- and epi-metaphyseal dysplasia, but with varying severity of the hip and knee deformities. Two new missense variants, c.548 G>A, p.(Arg183His) and c.569 G>T, p.(Arg190Leu), and a previously known splice variant c.477+1G>A were identified, confirming mutational clustering in a highly specific RNA binding motif. Structural analysis and interpretation of the variants' impact on the protein suggests that disruption of extra-ribosomal functions of the protein through binding of mRNA may play a role in the skeletal phenotype of SEMD-RPL13. In addition, we present gonadal and somatic mosaicism for the condition.
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| 31. |
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| 32. |
- Kashtanov, Stepan, et al.
(author)
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Local structures of liquid water studied by x-ray emission spectroscopy
- 2004
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In: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 69:2
-
Journal article (peer-reviewed)abstract
- The O Kalpha x-ray emission spectra of water clusters with different sizes and conformations embedded in a continuum medium are simulated. The calculations have successfully explained the experimental spectra of water in both gas and liquid phases. It is shown that the x-ray emission spectra are very sensitive to the local hydrogen bonding structures. Strong electron sharing between different water molecules is observed and its possible connection to the covalency of hydrogen bonding is discussed. The experimentally observed strong excitation energy dependence of the spectra has been interpreted in terms of the polarization and angular dependence for the gas phase, and in terms of variations of local hydrogen bonding structures for the liquid phase.
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| 33. |
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| 34. |
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| 35. |
- Liu, H J, et al.
(author)
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Electronic structure of cobalt nanocrystals suspended in liquid
- 2007
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In: Nano letters (Print). - : American Chemical Society (ACS). - 1530-6984 .- 1530-6992. ; 7:7, s. 1919-1922
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Journal article (peer-reviewed)abstract
- The electronic structure of cobalt nanocrystals suspended in liquid as a function of size has been investigated using in situ X-ray absorptionand emission spectroscopy. A sharp absorption peak associated with the ligand molecules is found that increases in intensity upon reducingthe nanocrystal size. X-ray Raman features due to d−d and to charge-transfer excitations of ligand molecules are identified. The study revealsthe local symmetry of the surface of E-Co phase nanocrystals, which originates from a dynamic interaction between Co nanocrystals andsurfactant + solvent molecules.
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| 36. |
- Lundström, Ulla, et al.
(author)
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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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In: Geoderma. - 0016-7061 .- 1872-6259. ; 94:04-feb, s. 335-353
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Journal article (peer-reviewed)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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| 37. |
- Magnuson, Martin, et al.
(author)
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Electronic-structure investigation of CeB6 by means of soft-x-ray scattering
- 2001
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In: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 63:7, s. 075101-
-
Journal article (peer-reviewed)abstract
- The electronic structure of the heavy fermion compound CeB6 is probed by resonant inelastic soft-x-ray scattering using photon energies across the Ce 3d and 4d absorption edges. The hybridization between the localized 4f orbitals and the delocalized valence-band states is studied by identifying the different spectral contributions from inelastic Raman scattering and normal fluorescence. Pronounced energy-loss structures are observed below the elastic peak at both the 3d and 4d thresholds. The origin and character of the inelastic scattering structures are discussed in terms of charge-transfer excitations in connection to the dipole allowed transitions with 4f character. Calculations within the single-impurity Anderson model with full multiplet effects are found to yield consistent spectral functions to the experimental data.
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| 38. |
- Magnuson, Martin, 1965-, et al.
(author)
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Resonant inelastic soft X-ray scattering spectra at the nitrogen and carbon K-edges of poly(pyridine-2,5-diyl)
- 1999
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In: Journal of Electron Spectroscopy and Related Phenomena. - 0368-2048 .- 1873-2526. ; 101-103, s. 573-578
-
Journal article (peer-reviewed)abstract
- Resonant inelastic scattering measurements of the conjugated polymer, poly(pyridine-2,5-diyl) have been performed at the nitrogen and carbon K-edges using synchrotron radiation. For comparison, molecular orbital calculations of the spectra have been carried out with the repeat unit as a model molecule of the polymer chain. The resonant emission spectra show depletion of the π electron bands which is consistent with symmetry selection and momentum conservation rules. The depletion is most obvious in the resonant inelastic scattering spectra of carbon while the nitrogen spectra are dominated by lone pair n orbital emission of σ symmetry and are less excitation energy dependent. By comparing the measurements to calculations an isomeric dependence of the resonant spectra is found giving preference to two of the four possible isomers in the polymer.
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| 39. |
- Magnuson, Martin, 1965-, et al.
(author)
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The electronic structure of poly(pyridine-2,5-diyl) investigated by soft X-ray absorption and emission spectroscopies
- 1998
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In: Chemical Physics. - 0301-0104 .- 1873-4421. ; 237:3, s. 295-304
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Journal article (peer-reviewed)abstract
- The electronic structure of the poly-pyridine conjugated polymer has been investigated by resonant and non-resonant inelastic X-ray scattering and X-ray absorption spectroscopies using synchrotron radiation. The measurements were made for both the carbon and nitrogen contents of the polymer. The analysis of the spectra has been carried out in comparison with molecular orbital calculations taking the repeat-unit cell as a model molecule of the polymer chain. The simulations indicate no significant differences in the absorption and in the non-resonant X-ray scattering spectra for the different isomeric geometries, while some isomeric dependence of the resonant spectra is predicted. The resonant emission spectra show depletion of the electron bands in line with symmetry selection and momentum conservation rules. The effect is most visual for the carbon spectra; the nitrogen spectra are dominated by lone pair n orbital emission of symmetry and are less frequency dependent.
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| 40. |
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| 41. |
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| 43. |
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| 44. |
- Ringberg, Anita, et al.
(author)
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Histopathological risk factors for ipsilateral breast events after breast conserving treatment for ductal carcinoma in situ of the breast--results from the Swedish randomised trial.
- 2007
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In: European journal of cancer (Oxford, England : 1990). - : Elsevier BV. - 0959-8049 .- 1879-0852. ; 43:2, s. 291-8
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Journal article (peer-reviewed)abstract
- AIM: The primary aims were to study risk factors for an ipsilateral breast event (IBE) after sector resection for ductal carcinoma in situ of the breast (DCIS) in a trial comparing adjuvant radiotherapy to no therapy and to assess predictive factors for response to radiotherapy. Secondary aims were to analyse reproducibility of the histopathological evaluation and to estimate correctness of diagnosis in the trial. SETTING: A randomised trial in Sweden (the SweDCIS trial), including 1046 women with a median of 5.2 years of follow-up in a population, offered routine mammographic screening. METHODS: A case-cohort design with a total of 161 cases of IBE (42 of those being members of the subcohort) and 284 sampled for the sub-cohort. Ninety five percent of the participants' slides could be retrieved and were re-evaluated by three experienced pathologists. RESULTS: Low nuclear grade (NG 1-2) and absence of necrosis halves the risk of IBE in both irradiated and non-irradiated patients. Lesion size, margins of excision and age at diagnosis did not modify these associations. The presence of necrosis modified the effect of radiotherapy: relative risk was 0.40 with necrosis present and 0.07 with necrosis absent (p-value for interaction 0.068). In all subsets of prognostic factors, radiotherapy conferred a substantial benefit. The risk factors for in situ and invasive IBE were similar. The agreement between pathologists was moderate (kappa=0.486). Correctness of diagnosis in the subcohort of SweDCIS was 84.8%. CONCLUSION: Although nuclear grade and necrosis carry prognostic information, we could not define a group with very low risk after sector resection alone. Radiotherapy has a protective effect in all substrata of risk factors studied. The interaction between the presence of necrosis and radiotherapy is a clinically and biologically relevant research area.
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| 45. |
- Sarajlic, P, et al.
(author)
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Enhanced ventricular-arterial coupling during a 2-year physical activity programme in patients with rheumatoid arthritis : a prospective substudy of the physical activity in rheumatoid arthritis 2010 trial.
- 2018
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In: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 284:6, s. 664-673
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Journal article (peer-reviewed)abstract
- OBJECTIVE: To establish how guided physical activity in patients with rheumatoid arthritis (RA) without known cardiovascular disease affected vascular and cardiac function, and how these two entities were prospectively interconnected in this patient group.METHODS: Prospective substudy of 29 participants in the Physical Activity in RA (PARA) 2010 trial. All subjects were examined at baseline, at year 1 and 2 with measures of pulse wave velocity and arterial augmentation index, as well as echocardiographic evaluation of diastolic parameters and ventricular-arterial coupling. Muscle strength and aerobic exercise capacity were assessed at baseline and yearly. All participants performed physiotherapist-guided aerobic and muscle strength exercise during 2 years and were reminded through SMS to report physical activity progress.RESULTS: This cohort of patients with RA exhibited increased vascular stiffness despite normal blood pressure. At baseline, lower muscle strength was associated with increased vascular stiffness (β = 0.68; P = 0.004), whereas lower aerobic working capacity was associated with left ventricular diastolic dysfunction (β = 0.85; P = 0.03). There was a significant positive correlation between vascular stiffness and diastolic dysfunction at baseline (R2 = 0.64) and for the changes in those parameters observed during 2 years of guided physical activity. Finally, a significant improvement in ventricular-arterial coupling was observed after exercise (P < 0.001).CONCLUSION: These results indicate that although differentially associated with physical capacity parameters, improved vascular stiffness and improved diastolic dysfunction are interrelated, and that an optimization of the ventricular-arterial coupling may contribute to the beneficial effects of physical activity in patients with RA.
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| 46. |
- Skytt, P, et al.
(author)
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Quenching of symmetry breaking in resonant inelastic X-ray scattering by detuned excitation
- 1996
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In: Physical Review Letters. - 0031-9007. ; 77:25, s. 5035-5038
-
Journal article (peer-reviewed)abstract
- Observations made in oxygen K emission of CO2 show that the symmetry selective character of resonant x-ray emission is excitation energy dependent. Electronically dipole forbidden O K emission lines are observed for excitation at the O 1s --> pi* resonance, and they are gradually reduced upon detuning the excitation energy below threshold. The occurrence of forbidden transitions is explained in terms of dynamical symmetry breaking due to vibronic coupling, and the observation of quenching of the symmetry breaking upon detuning as due to an effective quenching of this vibronic coupling. Scattering theory applied to a few-level system is shown to account for the energy dependence of the symmetry selection in the limit of narrow bandpass photon excitation.
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| 47. |
- Skytt, P, et al.
(author)
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Role of screening and angular distributions in resonant x-ray emission of CO
- 1997
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In: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947. ; 55:1, s. 134-145
-
Journal article (peer-reviewed)abstract
- Resonantly excited carbon and oxygen x-ray-emission spectra of gaseous carbon monoxide are presented. Emission spectra obtained with selective excitation to the pi* valence orbital and to various Rydberg levels are compared to satellite-free nonresonant spectra. Screening effects caused by the excited electron, creating energy shifts and intensity variations in the resonant spectra compared to the nonresonant spectra, are observed, as well as an angular dependence of the resonantly excited spectra. The experimental spectra are compared to simulated spectra where the vibronic part is computed by means of a lifetime-vibrational interference formalism. The electronic intensities are analyzed by a separate-state, self-consistent-held method and a formalism for resonant inelastic x-ray scattering, focusing On screening and angular dependence.
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| 48. |
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| 49. |
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| 50. |
- Wang, T, et al.
(author)
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- 2020
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 4932-
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Journal article (peer-reviewed)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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