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- Chambers, John C., et al.
(författare)
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Genetic loci influencing kidney function and chronic kidney disease
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 373-375
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Tidskriftsartikel (refereegranskat)abstract
- Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10(-10) to 10(-15)). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease.
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- Hedman, E., et al.
(författare)
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Clinical and genetic outcome determinants of Internet- and group-based cognitive behavior therapy for social anxiety disorder
- 2012
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Ingår i: Acta Psychiatrica Scandinavica. - : John Wiley and Sons. - 0001-690X .- 1600-0447. ; 126:2, s. 126-136
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Tidskriftsartikel (refereegranskat)abstract
- Hedman E, Andersson E, Ljotsson B, Andersson G, Andersson E, Schalling M, Lindefors N, Ruck C. Clinical and genetic outcome determinants of Internet- and group-based cognitive behavior therapy for social anxiety disorder (SAD). Objective: No study has investigated clinical or genetic predictors and moderators of Internet-based cognitive behavior therapy (ICBT) compared with cognitive behavioral group therapy for (CBGT) for SAD. Identification of predictors and moderators is essential to the clinician in deciding which treatment to recommend for whom. We aimed to identify clinical and genetic (5-HTTLPR, COMTval158met, and BDNFval66met) predictors and moderators of ICBT and CBGT. Method: We performed three types of analyses on data from a sample comprising participants (N = 126) who had undergone ICBT or CBGT in a randomized controlled trial. Outcomes were i) end state symptom severity, ii) SAD diagnosis, and iii) clinically significant improvement. Results: The most stable predictors of better treatment response were working full time, having children, less depressive symptoms, higher expectancy of treatment effectiveness, and adhering to treatment. None of the tested gene polymorphisms were associated with treatment outcome. Comorbid general anxiety and depression were moderators meaning that lower levels were associated with a better treatment response in ICBT but not in CBGT. Conclusion: We conclude that demographic factors, symptom burden, adherence, and expectations may play an important role as predictors of treatment outcome. The investigated gene polymorphisms do not appear to make a difference.
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- Lavebratt, Catharina, et al.
(författare)
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CRY2 is associated with depression
- 2010
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Ingår i: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 5:2
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Tidskriftsartikel (refereegranskat)abstract
- Background: Abnormalities in the circadian clockwork often characterize patients with major depressive and bipolar disorders. Circadian clock genes are targets of interest in these patients. CRY2 is a circadian gene that participates in regulation of the evening oscillator. This is of interest in mood disorders where a lack of switch from evening to morning oscillators has been postulated.Principal Findings: We observed a marked diurnal variation in human CRY2 mRNA levels from peripheral blood mononuclear cells and a significant up-regulation (P = 0.020) following one-night total sleep deprivation, a known antidepressant. In depressed bipolar patients, levels of CRY2 mRNA were decreased (P = 0.029) and a complete lack of increase was observed following sleep deprivation. To investigate a possible genetic contribution, we undertook SNP genotyping of the CRY2 gene in two independent population-based samples from Sweden (118 cases and 1011 controls) and Finland (86 cases and 1096 controls). The CRY2 gene was significantly associated with winter depression in both samples (haplotype analysis in Swedish and Finnish samples: OR = 1.8, P = 0.0059 and OR = 1.8, P = 0.00044, respectively).Conclusions: We propose that a CRY2 locus is associated with vulnerability for depression, and that mechanisms of action involve dysregulation of CRY2 expression.
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- Lindfors, Charlotte, et al.
(författare)
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Hypothalamic mitochondrial dysfunction associated with anorexia in the anx/anx mouse
- 2011
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 108:44, s. 18108-18113
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Tidskriftsartikel (refereegranskat)abstract
- The anorectic anx/anx mouse exhibits disturbed feeding behavior and aberrances, including neurodegeneration, in peptidergic neurons in the appetite regulating hypothalamic arcuate nucleus. Poor feeding in infants, as well as neurodegeneration, are common phenotypes in human disorders caused by dysfunction of the mitochondrial oxidative phosphorylation system (OXPHOS). We therefore hypothesized that the anorexia and degenerative phenotypes in the anx/anx mouse could be related to defects in the OXPHOS. In this study, we found reduced efficiency of hypothalamic OXPHOS complex I assembly and activity in the anx/anx mouse. We also recorded signs of increased oxidative stress in anx/anx hypothalamus, possibly as an effect of the decreased hypothalamic levels of fully assembled complex I, that were demonstrated by native Western blots. Furthermore, the Ndufaf1 gene, encoding a complex I assembly factor, was genetically mapped to the anx interval and found to be down-regulated in anx/anx mice. These results suggest that the anorexia and hypothalamic neurodegeneration of the anx/anx mouse are associated with dysfunction of mitochondrial complex I.
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- Schalling, E
(författare)
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Assessment of Motor Speech Disorders
- 2014
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Ingår i: INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS. - : Wiley. - 1368-2822. ; 49:6, s. 780-780
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 12. |
- Schalling, E., et al.
(författare)
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Effects of tactile biofeedback by a portable voice accumulator on voice intensity in speakers with Parkinson’s disease
- 2013
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Ingår i: Journal of Voice. - : Elsevier BV. - 0892-1997 .- 1873-4588. ; 27:6, s. 729-737
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: To study the effects of biofeedback on voice sound level (SL) in subjects with reduced voice SL, secondary to Parkinson disease (PD), using a portable voice accumulator. Study Design: Prospective intervention study. Methods: Voice SL, phonation time, and level of background noise were registered with a portable voice accumulator during three consecutive registration periods. Six subjects with reduced voice SL secondary to PD participated. Biofeedback, in the form of a vibration signal when voice SL went below an individually set threshold level, was administered during the second registration period only. Mean voice SL was calculated for registration periods with and without feedback. Data on phonation time and level of background noise was also collected. Field registrations with the portable voice accumulator were also compared with registrations made in a recording studio. In addition, subjects were asked about subjective experiences of using the portable voice accumulator for up to 15 days. Results: There was a statistically significant increase in voice SL during the period when biofeedback of voice SL was administered. Subjects reported that using the portable voice accumulator was a positive experience. Several participants wished to continue using the device. In general, subjects handled the device independently with no major problems and did not report any negative experiences. Conclusions: Although this study was a first trial including six subjects with reduced voice SL secondary to PD, the findings indicate that biofeedback of voice SL administered via a portable voice accumulator may be a useful treatment tool for this group of patients and that further studies are needed.
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- Solé-Domènech, Santiago, et al.
(författare)
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Localization of cholesterol, amyloid and glia in Alzheimer's disease transgenic mouse brain tissue using time-of-flight secondary ion mass spectrometry (ToF-SIMS) and immunofluorescence imaging
- 2013
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Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 125:1, s. 145-157
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Tidskriftsartikel (refereegranskat)abstract
- The spatial distributions of lipids, amyloid-beta deposits, markers of neurons and glial cells were imaged, at submicrometer lateral resolution, in brain structures of a mouse model of Alzheimer's disease using a new methodology that combines time-of-flight secondary ion mass spectrometry (ToF-SIMS) and confocal fluorescence microscopy. The technology, which enabled us to simultaneously image the lipid and glial cell distributions in Tg2576 mouse brain structures, revealed micrometer-sized cholesterol accumulations in hippocampal regions undergoing amyloid-beta deposition. Such cholesterol granules were either associated with individual amyloid deposits or spread over entire regions undergoing amyloidogenesis. Subsequent immunohistochemical analysis of the same brain regions showed increased microglial and astrocytic immunoreactivity associated with the amyloid deposits, as expected from previous studies, but did not reveal any particular astrocytic or microglial feature correlated with cholesterol granulation. However, dystrophic neurites as well as presynaptic vesicles presented a distribution similar to that of cholesterol granules in regions undergoing amyloid-beta accumulation, thus indicating that these neuronal endpoints may retain cholesterol in areas with lesions. In conclusion, the present study provides evidence for an altered cholesterol distribution near amyloid deposits that would have been missed by several other lipid analysis methods, and opens for the possibility to study in detail the putative liaison between lipid environment and protein structure and function in Alzheimer's disease.
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