{"title":"Theoretical investigation of magnetic-field and hyperfine-induced transition parameters for magnesium-like and chlorine-like ions","authors":"Zhanbin Chen","doi":"10.1016/j.elspec.2024.147420","DOIUrl":"https://doi.org/10.1016/j.elspec.2024.147420","url":null,"abstract":"<div><p><span>In this paper, we report an extensive theoretical study of the magnetic-field and hyperfine-induced transition parameters for magnesium-like ions from Cr XIII to Zn XIX and chlorine-like ions from Mn IX to Co XI. These ions have a high abundance in the astrophysical plasma. Zeeman splitting level energies<span>, hyperfine- and/or magnetic-field dependent wavelengths, and transition rates of the 3s3p </span></span><span><math><mrow><msup><mrow></mrow><mrow><mn>3</mn></mrow></msup><msub><mrow><mi>P</mi></mrow><mrow><mn>2</mn><mo>,</mo><mn>1</mn><mo>,</mo><mn>0</mn></mrow></msub><mo>→</mo><mn>3</mn><msup><mrow><mi>s</mi></mrow><mrow><mn>2</mn></mrow></msup></mrow></math></span> <span><math><mrow><msup><mrow></mrow><mrow><mn>1</mn></mrow></msup><msub><mrow><mi>S</mi></mrow><mrow><mn>0</mn></mrow></msub></mrow></math></span> (for magnesium-like ions) and the 3p<sup>4</sup>3d <span><math><mrow><msup><mrow></mrow><mrow><mn>4</mn></mrow></msup><msub><mrow><mi>D</mi></mrow><mrow><mn>7</mn><mo>/</mo><mn>2</mn></mrow></msub><mo>→</mo></mrow></math></span> 3p<sup>5</sup> <span><math><mrow><msup><mrow></mrow><mrow><mn>2</mn></mrow></msup><msub><mrow><mi>P</mi></mrow><mrow><mn>3</mn><mo>/</mo><mn>2</mn></mrow></msub></mrow></math></span><span> line (for chlorine-like ions), are computed using the multiconfiguration Dirac–Fock method. Some higher-order effects, such as the Breit interaction and quantum electrodynamics<span> corrections, are included in the relativistic configuration interaction method<span>, as this makes the results more accurate. A comparison between the our predictions and other theoretical and experimental values is made. A satisfactory agreement is achieved. Besides providing valuable information for spectral line<span> analysis, the present work will have a variety of implications for fusion and astrophysical plasma sources, for example, in the determination of magnetic fields in solar coronas and other stars.</span></span></span></span></p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"270 ","pages":"Article 147420"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139503573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Generalized oscillator strengths and integral cross sections of krypton studied by high-energy electron scattering","authors":"Wan-Lu Ma, Shu-Xing Wang, Zhi-Wei Nie, Jian-Hui Zhu, Jin-Feng Chen, Lin-Fan Zhu","doi":"10.1016/j.elspec.2024.147422","DOIUrl":"https://doi.org/10.1016/j.elspec.2024.147422","url":null,"abstract":"<div><p>Absolute generalized oscillator strengths of the valence-shell excitations of krypton have been determined with an incident electron energy of 1500 eV and an energy resolution of about 80 meV. By employing the relative flow technique with a dilute target, the pressure effect is excluded and the accuracy of the measured generalized oscillator strengths is improved. By comparing the present generalized oscillator strengths with the previous experimental and theoretical results, it is found that the first Born approximation is not reached at the squared momentum transfer larger than 1 a.u.. The optical oscillator strengths have been obtained by extrapolating the measured generalized oscillator strengths to zero squared momentum transfer, which cross-checks the previous electron impact and photoabsorption results. With the aid of the BE-scaling method, the integral cross sections of krypton have been determined from the excitation threshold to 5000 eV. The present oscillator strengths and integral cross sections supplement the fundamental database of the electron scattering of krypton and provide a benchmark for the theoretical methods.</p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"271 ","pages":"Article 147422"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139744385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Calculations of electron scattering cross sections from tungsten precursors used in FEBID","authors":"Meenu Pandey, Bobby Antony","doi":"10.1016/j.elspec.2024.147430","DOIUrl":"https://doi.org/10.1016/j.elspec.2024.147430","url":null,"abstract":"<div><p>In this work, the integral elastic, inelastic, ionization, and momentum transfer scattering cross sections of <span><math><msub><mrow><mi>WF</mi></mrow><mrow><mn>6</mn></mrow></msub></math></span>, <span><math><msub><mrow><mi>WCl</mi></mrow><mrow><mn>6</mn></mrow></msub></math></span>, and <span><math><msub><mrow><mi>W(CO)</mi></mrow><mrow><mn>6</mn></mrow></msub></math></span> molecules are calculated using a quantum mechanical method. These are considered precursors for tungsten deposition using the focused electron beam-induced deposition (FEBID) technique. The spherical complex optical potential (SCOP) formalism is used to figure out the total elastic, inelastic, and momentum transfer cross sections. The complex scattering potential ionization contribution (CSP-ic) method is used to find the ionization cross sections in the inelastic channel. The calculations are performed on a fine grid in the energy range from the ionization potential to 5 keV. We have also reported comparisons of our data with available theoretical and experimental results. All types of scattering cross sections for <span><math><msub><mrow><mi>WCl</mi></mrow><mrow><mn>6</mn></mrow></msub></math></span> is reported for the first time.</p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"271 ","pages":"Article 147430"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140031543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Charles A. Cardot, Joshua J. Kas, Jared E. Abramson, John J. Rehr, Gerald T. Seidler
{"title":"Core-to-core X-ray emission spectra from Wannier based multiplet ligand field theory","authors":"Charles A. Cardot, Joshua J. Kas, Jared E. Abramson, John J. Rehr, Gerald T. Seidler","doi":"10.1016/j.elspec.2024.147419","DOIUrl":"10.1016/j.elspec.2024.147419","url":null,"abstract":"<div><p><span><span>Recent advances using Density Functional Theory (DFT) to augment Multiplet </span>Ligand Field Theory (MLFT) have led to ab-initio calculations of many formerly empirical parameters. This development makes MLFT more predictive instead of interpretive, thus improving its value for studies of highly correlated </span><span><math><mrow><mn>3</mn><mi>d</mi></mrow></math></span>, <span><math><mrow><mn>4</mn><mi>d</mi></mrow></math></span>, and <em>f</em><span>-electron systems. Synchrotron<span> time is always at a premium, and tools that provide predictive capabilities have clear value when it comes to planning studies. Here, we develop a DFT + MLFT based approach for core-to-core Kα x-ray emission spectra (XES) and evaluate its performance for a range of transition metal systems. We find good agreement between theory and experiment, as well as the ability to capture key spectral trends related to spin and oxidation state. We also discuss limitations of the model in the context of the remaining free parameters and suggest directions forward.</span></span></p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"270 ","pages":"Article 147419"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139509186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Structural studies of Prussian Blue Analogs containing trivalent hexacyanoferrate by extended X-ray absorption fine structure spectroscopy","authors":"Toshiaki Iwazumi , Akihito Kusumoto , Ryohei Takeshita , Daisuke Kobayashi , Hiroko Tokoro , Kosuke Nakagawa , Shin-ichi Ohkoshi","doi":"10.1016/j.elspec.2024.147421","DOIUrl":"https://doi.org/10.1016/j.elspec.2024.147421","url":null,"abstract":"<div><p>The structure of 10 Prussian Blue Analogs containing trivalent hexacyanoferrate was investigated by extended X-ray absorption fine structure spectroscopy at the Fe 1 <em>s</em> edge and the transition metal 1 <em>s</em> edges. Despite the changes in physical properties due to differences in the non-iron transition metal and the interatomic distance between Fe and the non-iron transition metal, there was almost no change in the structure of trivalent hexacyanoferrate ions. Although this result agrees with the conclusions of many previous structural analyses, it raises a new question compared to our previous research conducted soft X-ray absorption measurements at the Fe 2<em>p</em> edge, which states that the detailed electronic state of Fe varies in proportion to the interatomic distance between Fe and the non-iron transition metal.</p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"271 ","pages":"Article 147421"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139738711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jack Zwettler , Henry Amir , Faren H. Marashi , Nina Bielinski , Sahaj Patel , Pranav Mahaadev , Yijing Huang , Dipanjan Chaudhuri , Xuefei Guo , Tai Chang Chiang , Dirk K. Morr , Peter Abbamonte , Fahad Mahmood
{"title":"An extreme ultraviolet 2e-ARPES setup based on dual time-of-flight analyzers","authors":"Jack Zwettler , Henry Amir , Faren H. Marashi , Nina Bielinski , Sahaj Patel , Pranav Mahaadev , Yijing Huang , Dipanjan Chaudhuri , Xuefei Guo , Tai Chang Chiang , Dirk K. Morr , Peter Abbamonte , Fahad Mahmood","doi":"10.1016/j.elspec.2023.147417","DOIUrl":"10.1016/j.elspec.2023.147417","url":null,"abstract":"<div><p><span>Measuring the momentum and energy distribution of photoemitted correlated electron pairs is a promising approach to directly probe the nature of electron–electron interactions in quantum materials. In this work, we present a two electron angle resolved photoemission<span> spectroscopy (2e-ARPES) setup based on two time-of-flight (TOF) analyzers and a gas fiber high-harmonic generation (HHG) extreme ultraviolet (XUV) source. For each incident XUV pulse, the system is capable of recording six-dimensional coincidence datasets (kinetic energy and two orthogonal momenta for each electron) with an unprecedented double photoemission energy resolution of </span></span><span><math><mo><</mo></math></span> 25 meV. The two TOF analyzers permit measurements of correlated electron pairs with momentum separation of <span><math><mrow><mo>∼</mo><mn>2</mn><mspace></mspace><msup><mrow><mtext>Å</mtext></mrow><mrow><mo>−</mo><mn>1</mn></mrow></msup></mrow></math></span><span>. The performance of the setup is demonstrated by both single and double photoemission measurements, with an emphasis on the coincidence acquisition electronics and data extraction procedure for isolating correlated pair emission.</span></p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"270 ","pages":"Article 147417"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138687147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Electronic structure and resonant inelastic x-ray scattering in the mixed 3d-5d transition-metal oxides Sr3CuIrO6, Sr3CuPtO6, and Sr3ZnIrO6","authors":"V.N. Antonov , D.A. Kukusta , L.V. Bekenov","doi":"10.1016/j.elspec.2023.147416","DOIUrl":"10.1016/j.elspec.2023.147416","url":null,"abstract":"<div><p><span>We have investigated the electronic and magnetic properties of one-dimensional Sr</span><span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>CuIrO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span>, Sr<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>ZnIrO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span>, and Sr<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>CuPtO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span><span> oxides within the density-functional theory (DFT) using the generalized gradient approximation while taking into account strong Coulomb correlations (GGA+</span><span><math><mi>U</mi></math></span>) in the framework of the fully relativistic spin-polarized Dirac linear muffin-tin orbital band-structure method. The strong spin–orbit coupling (SOC) in these oxides splits the <span><math><msub><mrow><mi>t</mi></mrow><mrow><mn>2</mn><mi>g</mi></mrow></msub></math></span>-type manifold into a lower <span><math><msub><mrow><mi>j</mi></mrow><mrow><mi>e</mi><mi>f</mi><mi>f</mi></mrow></msub></math></span> = 3/2 quartet and an upper <span><math><msub><mrow><mi>j</mi></mrow><mrow><mi>e</mi><mi>f</mi><mi>f</mi></mrow></msub></math></span> = 1/2 doublet. The <span><math><msub><mrow><mi>j</mi></mrow><mrow><mi>e</mi><mi>f</mi><mi>f</mi></mrow></msub></math></span> = 1/2 band is almost completely given by linear combinations of <span><math><msub><mrow><mi>d</mi></mrow><mrow><mn>5</mn><mo>/</mo><mn>2</mn></mrow></msub></math></span> states. The occupied <span><math><msub><mrow><mi>j</mi></mrow><mrow><mi>e</mi><mi>f</mi><mi>f</mi></mrow></msub></math></span> = 3/2 band is dominated by <span><math><msub><mrow><mi>d</mi></mrow><mrow><mn>3</mn><mo>/</mo><mn>2</mn></mrow></msub></math></span> states with some weight of <span><math><msub><mrow><mi>d</mi></mrow><mrow><mn>5</mn><mo>/</mo><mn>2</mn></mrow></msub></math></span> states. We have investigated theoretically the resonant inelastic x-ray scattering (RIXS) spectra at the Ir and Pt <span><math><msub><mrow><mi>L</mi></mrow><mrow><mn>3</mn></mrow></msub></math></span> edges in Sr<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>CuIrO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span>, Sr<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>ZnIrO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span>, and Sr<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>CuPtO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span>. The experimentally measured RIXS spectrum of Sr<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>CuIrO<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span> possesses a sharp feature below 1.3 eV corresponding to transitions within the Ir <span><math>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"270 ","pages":"Article 147416"},"PeriodicalIF":1.9,"publicationDate":"2023-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138687141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Takahito Takeda , Kengo Takase , Vladimir N. Strocov , Masaaki Tanaka , Masaki Kobayashi
{"title":"Identification of electronic dimensionality reduction in semiconductor quantum well structures","authors":"Takahito Takeda , Kengo Takase , Vladimir N. Strocov , Masaaki Tanaka , Masaki Kobayashi","doi":"10.1016/j.elspec.2023.147406","DOIUrl":"https://doi.org/10.1016/j.elspec.2023.147406","url":null,"abstract":"<div><p><span><span>Two-dimensional (2D) systems, such as high-temperature superconductors<span>, surface states of topological insulators, and layered materials, have been intensively studied using vacuum-ultraviolet (VUV) angle-resolved </span></span>photoemission<span> spectroscopy (ARPES). In semiconductor films<span><span> (heterostructures), quantum well (QW) states arise due to electron/hole accumulations at the surface (interface). The quantized states due to quantum confinement can be observed by VUV-ARPES, while the periodic </span>intensity modulations along the surface normal (</span></span></span><em>k</em><sub><em>z</em></sub>) direction of these quantized states are also observable by varying incident photon energy, resembling three-dimensional (3D) band dispersion. We have conducted soft X-ray (SX) ARPES measurements on thick and ultrathin III-V semiconductor InSb(001) films to investigate the electronic dimensionality reduction in semiconductor QWs. In addition to the dissipation of the <em>k</em><sub><em>z</em></sub><span><span> dispersion, the SX-ARPES observations demonstrate the changes of the symmetry and periodicity of the Brillouin zone in the </span>ultrathin film as 2D QW compared with these of the 3D bulk one, indicating the electronic dimensionality reduction of the 3D bulk band dispersion caused by the quantum confinement. The results provide a critical diagnosis using SX-ARPES for the dimensionality reduction in semiconductor QW structures.</span></p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"270 ","pages":"Article 147406"},"PeriodicalIF":1.9,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138490206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"L-MM Auger electron emission from chlorinated organic molecules under proton impact: Angular distribution and total cross section measurement","authors":"Rohit Tyagi , Abhijeet Bhogale , Sandeep Bari , L.C. Tribedi , A.H. Kelkar","doi":"10.1016/j.elspec.2023.147407","DOIUrl":"https://doi.org/10.1016/j.elspec.2023.147407","url":null,"abstract":"<div><p><span>We have measured the absolute cross section for L-MM Auger electron emission<span> in chlorinated methanes and benzene chloride molecules in collision with keV energy protons. The measurements have been performed with four different chlorine containing organic molecules viz CCl</span></span><span><math><msub><mrow></mrow><mrow><mn>4</mn></mrow></msub></math></span>, CHCl<span><math><msub><mrow></mrow><mrow><mn>3</mn></mrow></msub></math></span>, CH<span><math><msub><mrow></mrow><mrow><mn>2</mn></mrow></msub></math></span>Cl<span><math><msub><mrow></mrow><mrow><mn>2</mn></mrow></msub></math></span> and C<span><math><msub><mrow></mrow><mrow><mn>6</mn></mrow></msub></math></span>H<span><math><msub><mrow></mrow><mrow><mn>5</mn></mrow></msub></math></span>Cl. We have measured the angular distribution of chlorine L-MM Auger electrons at backward emission angles (90° – 150°). The angular distribution shows an isotropic character. We also studied the projectile energy dependence of the total L-MM Auger yield for proton energy ranging from 125 keV to 275 keV. Carbon K-LL Auger yield was also obtained in the same experiments.</p></div>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"269 ","pages":"Article 147407"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138467963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zuhier Awan, Alhanuf Batran, Faisal A Al-Allaf, Raneem S Alharbi, Gehan A Hegazy, Bassam Jamalalail, Majid Almansouri, Abdulhadi I Bima, Haifa Almukadi, Hussam I Kutbi, Ahmed E Altayar, Babajan Banaganapalli, Noor A Shaik
{"title":"Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.","authors":"Zuhier Awan, Alhanuf Batran, Faisal A Al-Allaf, Raneem S Alharbi, Gehan A Hegazy, Bassam Jamalalail, Majid Almansouri, Abdulhadi I Bima, Haifa Almukadi, Hussam I Kutbi, Ahmed E Altayar, Babajan Banaganapalli, Noor A Shaik","doi":"10.23736/S0031-0808.22.04612-2","DOIUrl":"10.23736/S0031-0808.22.04612-2","url":null,"abstract":"<p><strong>Background: </strong>Familial hypercholesterolemia (FH) is a globally underdiagnosed inherited metabolic disorder. Owing to limited published data from Arab world, this study was conducted with the aim of identifying the genetic and molecular basis of FH in highly consanguineous Saudi population.</p><p><strong>Methods: </strong>We performed clinical screening, biochemical profiling, whole exome sequencing and variant segregation analysis of two Saudi FH families. Additionally, 500 normolipic individuals were screened to ensure the absence of FH variant in general Saudi population. Functional characterization of FH variants on secondary structure characteristics of RNA and protein molecules was performed using different bioinformatics modelling approaches.</p><p><strong>Results: </strong>WES analysis identified two independent rare LDLR gene stop gain variants (p.C231* and p.R744*) consistent to the clinical presentation of FH patients from two different families. RNAfold analysis has shown that both variants were predicted to disturb the free energy dynamics of LDLR mRNA molecule and destabilize its folding pattern and function. PSIPRED based structural modelling analysis has suggested that both variants bring drastic changes disturbing the secondary structural elements of LDLR molecule. The p.C231* and p.R744* variants are responsible for partial or no protein product, thus they are class 1 variants causing loss of function (LoF) LDLR variants.</p><p><strong>Conclusions: </strong>This study highlights the effectiveness of the WES, sanger sequencing, and computational analysis in expanding FH variant spectrum in culturally distinct populations like Saudi Arabia. Genetic testing of FH patients is very essential in better clinical diagnosis, screening, treatment, and management and prevention of cardiovascular disease burden in the society.</p>","PeriodicalId":15726,"journal":{"name":"Journal of Electron Spectroscopy and Related Phenomena","volume":"161 1","pages":"479-490"},"PeriodicalIF":4.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75975972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}