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- Giwercman, YL, et al.
(författare)
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Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor
- 2000
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Ingår i: Hormone research. - : S. Karger AG. - 0301-0163. ; 53:2, s. 83-88
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Tidskriftsartikel (refereegranskat)abstract
- The androgen insensitivity syndrome is a disorder caused by deficient function of the androgen receptor, characterized by varying degrees of undermasculinization in karyotypic males. We have identified four mutations in the androgen receptor gene, in the region encoding the DNA-binding domain of the protein. Two mutations, R607X and R615G, were found in patients with complete insensitivity to androgens, whereas the other two, S578T and A596T, were found in patients with partial insensitivity. The functional consequences of the three missense mutations were assayed in vitro after transient expression of the receptors in COS cells. All mutants showed normal androgen binding but abnormal abilities to stimulate transcription of an androgen-responsive reporter gene. R615G abolished transactivation whereas S578T and A596T were partially malfunctional. The function of A596T, but not of S578T, was normalized at high androgen concentrations in vitro, reflecting the in vivo situation. Thus, patients with specific mutations in the DNA-binding domain of the androgen receptor may benefit from androgen treatment.
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- Pang, S. T., et al.
(författare)
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Cytogenetic and expression profiles associated with transformation to androgen-resistant prostate cancer
- 2006
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Ingår i: The Prostate. - : Wiley. - 0270-4137 .- 1097-0045. ; 66:2, s. 157-172
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND. The mechanisms underlying the progression of prostate cancer to androgen-resistant cancer are still not fully understood. Here, we studied the genetic events associated with this transformation. METHODS. The androgen sensitive prostate cancer cells line LNCaP-FGC and its androgen resistant subline LNCaP-r were investigated using SKY, CGH, and cDNA microarray. RESULTS. Karyotypically, several additional chromosomal aberrations were seen in LNCaP-r as compared to the parental line. CGH also revealed unique net chromosomal alterations in LNCaP-r compared to LNCaP-FGC, including gain of 2p13-23, 2q21-32, and 13q and loss of 6p22-pter. cDNA microarray analysis identified several genes involved in DNA methylation, such as DNMT2, DNMT3a, and methyl-CpG binding domain protein 2 and 4 that were higher expressed in LNCaP-r. Interestingly, androgen responsiveness of LNCaP-r was restored after treated with DNA methyltransferase inhibitor. CONCLUSIONS. Our findings may serve as a basis for molecular dissection of the mechanisms involved in development of androgen resistant prostate cancer.
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- Gomez L, Ana Maria, 1993-, et al.
(författare)
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Determination of the Plasma Delay Time in PIPS detectors for fission fragments at the LOHENGRIN spectrometer
- 2023
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Ingår i: 15<sup>th</sup> International Conference on Nuclear Data for Science and Technology (ND2022). - : EDP Sciences.
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Konferensbidrag (refereegranskat)abstract
- The VElocity foR Direct particle Identification spectrometer (VERDI) is a 2E-2v fission spectrometer that allows the measurement of the total mass distribution of secondary fission fragments with a resolving power of 1-2 u. It consists of two time-of-flight (ToF) arms, with one Micro Channel Plate (MCP) detector and up to 32 Silicon PIPS (Passive Implanted Planar Silicon) detectors per arm. The MCPs provide the start timing signals and the PIPS detectors provide both the energy and the stopping ToF signals. In real conditions, the PIPS signals are affected by the formation of plasma from the interaction between the heavy ions and the detector material. The plasma contributes to a reduction in signal amplitude, resulting in a Pulse Height Defect (PHD), and introduces a signal delay, known as Plasma Delay Time (PDT). An experiment to characterize the PDT and PHD was performed at the LOHENGRIN recoil separator of the Institut Laue Langevin (ILL). Characteristic fission fragments from the 239Pu(n,f) reaction were separated based on their A/Q and E/Q ratios, allowing the measurement of a wide range of energies from 21 to 110 MeV and masses between 80 and 149 u. Six PIPS detectors were characterized to study their individual responses to the PDT and PHD effects. The signals were recorded in a digital acquisition system to completely exploit the offline analysis capabilities. Achieved combined timing and energy resolutions for fission fragments varied between 72(2) ps and 100(4) ps and 1.4% - 2% (FWHM), respectively. Preliminary PHD and PDT data are presented from the masses A=85, 95, 130 and 143. The PHD trends are strongly correlated with both the ion energy and mass. The PDT, on the other hand, shows a strong variation as a function of the ion kinetic energy but a smaller dependence on the ion mass.
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- Hindorf, Ulf, et al.
(författare)
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Pharmacogenetics during standardised initiation of thiopurine treatment in inflammatory bowel disease
- 2006
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Ingår i: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 55:10, s. 1423-1431
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Tidskriftsartikel (refereegranskat)abstract
- Background: Firm recommendations about the way thiopurine drugs are introduced and the use of thiopurine methyltransferase (TPMT) and metabolite measurements during treatment in inflammatory bowel disease (IBD) are lacking. Aim: To evaluate pharmacokinetics and tolerance after initiation of thiopurine treatment with a fixed dosing schedule in patients with IBD. Patients: 60 consecutive patients with Crohn's disease (n = 33) or ulcerative colitis (n = 27) were included in a 20 week open, prospective study. Methods: Thiopurine treatment was introduced using a predefined dose escalation schedule, reaching a daily target dose at week 3 of 2.5 mg azathioprine or 1.25 mg 6-mercaptopurine per kg body weight. TPMT and ITPA genotypes, TPMT activity, TPMT gene expression, and thiopurine metabolites were determined. Clinical outcome and occurrence of adverse events were monitored. Results: 27 patients completed the study per protocol, while 33 were withdrawn (early protocol violation (n = 5), TPMT deficiency (n = 1), thiopurine related adverse events (n = 27)), 67% of patients with adverse events tolerated long term treatment on a lower dose (median 1.32 mg azathioprine/kg body weight). TPMT activity did not change during the 20 week course of the study but a significant decrease in TPMT gene expression was found (TPMT/huCYC ratio, p = 0.02). Patients with meTIMP concentrations > 11 450 pmol/8 × 108 red blood cells during steady state at week 5 had an increased risk of developing myelotoxicity (odds ratio = 45.0, p = 0.015). Conclusions: After initiation of thiopurine treatment using a fixed dosing schedule, no general induction of TPMT enzyme activity occurred, though TPMT gene expression decreased. The development of different types of toxicity was unpredictable, but we found that measurement of meTIMP early in the steady state phase helped to identify patients at risk of developing myelotoxicity.
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- Leijonhufvud, P, et al.
(författare)
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Structure of sperm activating protein
- 1997
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Ingår i: Molecular human reproduction. - : Oxford University Press (OUP). - 1360-9947 .- 1460-2407. ; 3:3, s. 249-253
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Tidskriftsartikel (refereegranskat)
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- Pousette Lundgren, G, et al.
(författare)
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Experiences of Being a Parent to a Child with Amelogenesis Imperfecta
- 2019
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Ingår i: Dentistry journal. - : MDPI AG. - 2304-6767. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Amelogenesis imperfecta (AI) is a hereditary developmental disorder affecting the enamel of teeth. Affected patients present with tooth hypersensitivity, rapid tooth wear, or fractures of enamel as well as alterations in color and shape, all of which compromise esthetic appearance and masticatory function. Chronic conditions in childhood severely impact the whole family, affecting normal family routines and/or increasing the family’s financial burden. The aim of this study was to explore experiences and the impact on daily life of being a parent to a child with severe forms of amelogenesis imperfecta. Parents of children and adolescents with AI participated in an interview with a psychologist. The transcribed interviews were analyzed using thematic analysis. The parents talked about several concerns about having a child with AI. Four main themes emerged from the interviews: Feelings associated with passing on a hereditary disorder, knowledge decreases stress, unfamiliarity with the diagnosis, and psychosocial stress. In these main categories we identified several subthemes. Feelings associated with passing on a hereditary disorder included the subtheme of guilt/shame; knowledge decreases stress included knowledge about diagnosis in the family and support from dental health care professionals; Unfamiliarity with diagnosis included missed diagnosis, fear of not getting correct treatment, and insufficient pain control; finally, the subtheme Psychosocial stress included fear of child being bullied and emergency dental visits. The findings show that parents of children with severe amelogenesis imperfecta report similar experiences as do parents of children with other chronic and rare diseases.
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- Skagert, K, et al.
(författare)
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Ledarskap och stress i politiskt styrd verksamhet. Balanserande förhållningssätt och strategier
- 2004
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Institutet för stressmedicin (ISM) bildades 2002 genom en gemensam satsning av regeringen, Västra Götalandsregionen (VGR) och Försäkringskassan i Västra Götalands län (FK). I samarbetsavtalet mellan VGR och FK slås fast att ett övergripande mål för ISM:s verksamhet är att genom forskning öka kunskapen om den stressrelaterade ohälsan och hur den kan förebyggas. I första hand ska insatserna inriktas på de båda huvudmännens egna anställda. Mot denna bakgrund var det naturligt att ett av institutets större projekt kommit att inriktas mot stressförebyggande och hälsofrämjande ledarskap i dessa politiskt styrda organisationer. Detta är den första delstudien, som syftar till att få fördjupad kunskap om chefers stressbelastning, föreställningar och strategier när det gäller att hantera psykosociala arbetsmiljöproblem. Det är vår förhoppning att den kommer att ligga till grund för diskussioner, i första hand med intressenter inom VGR och FK, om ledarutveckling och interventionsstudier som kan bidra till förbättringar av den psykosociala arbetsmiljön för chefer och deras medarbetare. Den här aktuella projektgruppen har bildats genom samverkan mellan forskare vid ISM, Avdelningen för Yrkesmedicin vid Sahlgrenska akademin och Arbetslivsinstitutet Väst. Projektets fokus ligger på chefer inom de politiskt styrda organisationerna VGR och FK. Det anknyter på ett tvärvetenskapligt sätt till flera genomförda, pågående och planerade forskningsprojekt som bedrivs av medlemmar i forskargruppen. Den flervetenskapliga sammansättningen av projektgruppen har upplevts som mycket fruktbar under hela forskningsprocessen.
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