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- Johansson, J., et al.
(författare)
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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
- 2024
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Ingår i: European Journal of Human Genetics. - : SPRINGERNATURE. - 1018-4813 .- 1476-5438. ; 32:3, s. 333-341
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Tidskriftsartikel (refereegranskat)abstract
- RNA binding motif protein X-linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model organisms highlight the gene's importance for brain development. Deletion of the RGG/RG motif in hnRNP G has previously been associated with Shashi syndrome, however involvement of other hnRNP G domains in intellectual disability remain unknown. In the current study, we present the underlying genetic and molecular cause of Gustavson syndrome. Gustavson syndrome was first reported in 1993 in a large Swedish five-generation family presented with profound X-linked intellectual disability and an early death. Extensive genomic analyses of the family revealed hemizygosity for a novel in-frame deletion in RBMX in affected individuals (NM_002139.4; c.484_486del, p.(Pro162del)). Carrier females were asymptomatic and presented with skewed X-chromosome inactivation, indicating silencing of the pathogenic allele. Affected individuals presented minor phenotypic overlap with Shashi syndrome, indicating a different disease-causing mechanism. Investigation of the variant effect in a neuronal cell line (SH-SY5Y) revealed differentially expressed genes enriched for transcription factors involved in RNA polymerase II transcription. Prediction tools and a fluorescence polarization assay imply a novel SH3-binding motif of hnRNP G, and potentially a reduced affinity to SH3 domains caused by the deletion. In conclusion, we present a novel in-frame deletion in RBMX segregating with Gustavson syndrome, leading to disturbed RNA polymerase II transcription, and potentially reduced SH3 binding. The results indicate that disruption of different protein domains affects the severity of RBMX-associated intellectual disabilities.
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| 2. |
- Johansson, S., et al.
(författare)
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Coherent light source based on sum-frequency mixing
- 2005
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Patent (populärvet., debatt m.m.)abstract
- A method and a device for generating visible coherent radiation is disclosed. The visible coherent radiation is generated by sum-frequency mixing of a first fundamental beam from a diode laser and a second fundamental beam from a diode-pumped solid-state laser. The mixing is performed by means of a quasi-phasematching element provided within the resonant cavity of the solid-state laser. The first fundamental beam is stabilized by providing feedback to the diode laser.
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| 6. |
- Åberg, F., et al.
(författare)
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Cancer After Liver Transplantation in Children and Young Adults: A Population-Based Study From 4 Nordic Countries
- 2018
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Ingår i: Liver Transplantation. - : Ovid Technologies (Wolters Kluwer Health). - 1527-6465 .- 1527-6473. ; 24:9, s. 1252-1259
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Tidskriftsartikel (refereegranskat)abstract
- Cancer after liver transplantation (LT) constitutes a threat also for young recipients, but cancer risk factors are usually absent in children and large studies on the cancer risk profile in young LT recipients are scarce. Data of patients younger than 30 years who underwent LT during the period 1982‐2013 in the Nordic countries were linked with respective national cancer registries to calculate standardized incidence ratios (SIRs). A total of 37 cancer cases were observed in 923 patients with 7846 person‐years of follow‐up. The SIR for all cancer types, compared with the matched general population, was 9.8 (12.4 for males and 7.8 for females). Cumulative incidence of cancer adjusted for the competing risk of death was 2% at 10 years, 6% at 20 years, and 22% at 25 years after LT. Non‐Hodgkin lymphoma was the most common cancer type (n = 14) followed by colorectal (n = 4) and hepatocellular cancer (n = 4). Age was a significant risk factor for cancer, and the absolute risk of most cancers (except for lymphoma) increased considerably in young adults older than 20 years. The cancer risk pattern is different in pediatric and young LT patients compared with adult recipients. The striking increase in cancer incidence in young adulthood after the second decade of life deserves further consideration in transition programs.
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| 10. |
- Ekvall, K., et al.
(författare)
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Cross phase modulation artifact in liquid phase transient absorption spectroscopy
- 2000
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Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 87:5, s. 2340-2352
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Tidskriftsartikel (refereegranskat)abstract
- We present experimental results for the cross phase modulation (xpm) induced transient absorption signal in a 1 mm thick fused silica plate using a white light continuum as a probe. The fused silica plate mimics the entrance window of a commercial flow cell commonly used in liquid-phase transient absorption measurements. The experimental results are compared with those obtained theoretically by numerically solving the set of nonlinear coupled wave equations describing the propagation of the pump and the probe. The simulations allow for the different group velocities of the pump and probe pulses, and include the influence of the first and second order dispersion on the continuum probe. From the calculations the physical origin of the complex oscillatory feature observed around the zero time delay of each wavelength of the (chirped) continuum has been accurately identified. The influence of propagation effects arising from the finite thickness of the sample is discussed in great detail, and the necessity to work with thin samples, preferably free-flowing jets, is emphasized. The good agreement between theory and experiment indicates that the xpm artifact may be useful for characterizing the continuum probe, in particular its chirp.
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