| 1. |
- Rydzanicz, Malgorzata, et al.
(författare)
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
- 2021
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Ingår i: Molecular Genetics & Genomic Medicine. - : Wiley-Blackwell. - 2324-9269. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post-zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of a pair of PDMZTs.Methods: Dysmorphic features and delayed neuro-motor development were observed in the proband, whereas her twin sister was phenotypically normal. Four tissues (blood, skin, hair follicles, and buccal mucosa) from both twins were studied using four complementary methods, including whole-exome sequencing, karyotyping, array CGH, and SNP array.Results: In the proband, tetrasomy 18p affecting all studied tissues except for blood was identified. Karyotyping of fibroblasts revealed isochromosome 18p [i(18p)] in all metaphases. The corresponding analysis of the phenotypically normal sister surprisingly revealed low-level mosaicism (5.4%) for i(18p) in fibroblasts.Conclusion: We emphasize that when mosaicism is suspected, multiple tissues should be studied and we highlight the usefulness of non-invasive sampling of hair follicles and buccal mucosa as a convenient source of non-mesoderm-derived DNA, which complements the analysis of mesoderm using blood. Moreover, low-level mosaic tetrasomy 18p is well tolerated and such low-level mosaicism, readily detected by karyotyping, can be missed by other methods. Finally, mosaicism for low-level tetrasomy 18p might be more common in the general population than it is currently recognized, due to detection limitations.
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| 2. |
- Ballantyne, Kaye N., et al.
(författare)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Tidskriftsartikel (refereegranskat)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 3. |
- Lasota, Dorota, et al.
(författare)
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Alcohol and the Risk of Railway Suicide
- 2020
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Ingår i: International journal of environmental research and public health. - : MDPI AG. - 1660-4601. ; 17:19
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Tidskriftsartikel (refereegranskat)abstract
- Suicide is one of the ten most common causes of death in the world. Of all deaths from suicide, 22% can be attributed to the use of alcohol, which means that every fifth suicide would not occur if alcohol were not consumed by the population. People under the influence of alcohol choose more radical and effective methods of dying by suicide, e.g., throwing themselves under a moving vehicle, such as a train. The presented analysis aimed to determine important risk factors affecting railway suicide in Poland and their relation to the state of alcohol intoxication of the victims, and the relationship between ethyl alcohol consumption and the phenomenon of suicide. Documentation obtained from the Department of Forensic Medicine at the Medical University of Warsaw, in the form of death registers and forensic medical records concerning examination and autopsy, was analyzed. This made it possible to identify suicide victims from among pedestrian victims of railway accidents recorded during the period under study. The research was carried out using unidimensional and multidimensional statistical analyses with IBM SPSS Statistics, version 25. Sober suicide victims were statistically significantly older than victims under the influence of alcohol; alcohol concentration was correlated with the age of the victims-the older the victims were, the higher the alcohol concentration. A significantly higher number of deaths attributed to suicide by sober victims was observed in autumn compared to other seasons. Multidimensional analysis showed a statistically significant effect of age and season on the probability of dying by suicide under the influence of alcohol-this probability decreases with the age of the victims and is also significantly lower in autumn. The observed relationship between age and the presence of alcohol in suicide victims can be the cause of railway suicides. Knowledge of the mechanisms of seasonal variability of suicidal behavior can help to develop effective strategies to prevent railway suicides. It is necessary to improve the system of reporting railway suicides, as only reliable statistics provide the possibility of assessing both the scale of the problem and the effectiveness of actions taken.
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| 4. |
- Olusegun, Sunday J., et al.
(författare)
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Comparative characteristics and enhanced removal of tetracycline and ceftriaxone by Fe3O4-lignin and Fe3O4-carbon-based lignin : Mechanism, thermodynamic evaluation, and DFT calculation
- 2023
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Ingår i: Journal of Molecular Liquids. - : Elsevier BV. - 0167-7322 .- 1873-3166. ; 371
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Tidskriftsartikel (refereegranskat)abstract
- In this study, eco-friendly Fe3O4-lignin (FeL) and Fe3O4-carbon-based lignin (FeCL) were synthesized, characterized, and applied for the adsorption of tetracycline (TRC) and ceftriaxone (CEF). Comparative characterization showed that the BET-specific surface area of FeCL is 27 m2/g more than that of FeL. The difference in their morphologies is insignificant, and the particle sizes range between 5 and 15 nm. There is a reduction in the oxygen content and hydroxyl group of FeCL as shown from the EDS and FTIR spectra respectively, compared with FeL. The adsorption capacity for the removal of TRC at 333 K is 156 and 148 mg g-1 by FeL and FeCL, respectively; while that of CEF are virtually the same. FeL and FeCL adsorption capacity for TRC increases with temperatures (endothermic), but decreases (exothermic) for CEF. The combination of experimental and computational approaches gave insight into the mechanisms of the adsorption process. The mechanisms of TRC and CEF adsorption by FeL and FeCL are the electrostatic attraction, hydrophobic, and 7C -7C interaction, while only FeL shows the possibility of hydrogen bond with both TRC and CEF. The study demonstrated that the synthesized material can be reused for up to 3 cycles without an alarming loss of efficiency capacity.
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| 5. |
- You, Yuan, et al.
(författare)
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Phloem Companion Cell-Specific Transcriptomic and Epigenomic Analyses Identify MRF1, a Regulator of Flowering
- 2019
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Ingår i: The Plant Cell. - Rockville : American Society of Plant Biologists. - 1040-4651 .- 1532-298X. ; 31:2, s. 325-345
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Tidskriftsartikel (refereegranskat)abstract
- The phloem plays essential roles in the source-to-sink relationship and in long-distance communication, and thereby coordinates growth and development throughout the plant. Here we employed isolation of nuclei tagged in specific cell types coupled with low-input, high-throughput sequencing approaches to analyze the changes of the chromatin modifications H3K4me3 and H3K27me3 and their correlation with gene expression in the phloem companion cells (PCCs) of Arabidopsis (Arabidopsis thaliana) shoots in response to changes in photoperiod. We observed a positive correlation between changes in expression and H3K4me3 levels of genes that are involved in essential PCC functions, including regulation of metabolism, circadian rhythm, development, and epigenetic modifications. By contrast, changes in H3K27me3 signal appeared to contribute little to gene expression changes. These genomic data illustrate the complex gene-regulatory networks that integrate plant developmental and physiological processes in the PCCs. Emphasizing the importance of cell-specific analyses, we identified a previously uncharacterized MORN-motif repeat protein, MORN-MOTIF REPEAT PROTEIN REGULATING FLOWERING1 (MRF1), that was strongly up-regulated in the PCCs in response to inductive photoperiod. The mrf1 mutation delayed flowering, whereas MRF1 overexpression had the opposite effect, indicating that MRF1 acts as a floral promoter.
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| 6. |
- You, Yuan, et al.
(författare)
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Temporal dynamics of gene expression and histone marks at the Arabidopsis shoot meristem during flowering
- 2017
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Plants can produce organs throughout their entire life from pluripotent stem cells located at their growing tip, the shoot apical meristem (SAM). At the time of flowering, the SAM of Arabidopsis thaliana switches fate and starts producing flowers instead of leaves. Correct timing of flowering in part determines reproductive success, and is therefore under environmental and endogenous control. How epigenetic regulation contributes to the floral transition has eluded analysis so far, mostly because of the poor accessibility of the SAM. Here we report the temporal dynamics of the chromatin modifications H3K4me3 and H3K27me3 and their correlation with transcriptional changes at the SAM in response to photoperiod-induced flowering. Emphasizing the importance of tissue-specific epigenomic analyses we detect enrichments of chromatin states in the SAM that were not apparent in whole seedlings. Furthermore, our results suggest that regulation of translation might be involved in adjusting meristem function during the induction of flowering.
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