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1.	Anckarsäter, Henrik, 1966, et al. (author) Child neurodevelopmental and behavioural problems are intercorrelated and dimensionally distributed in the general population 2008 In: The Open Psychiatry Journal. - : Bentham Science Publishers Ltd.. - 1874-3544. ; 2, s. 5-11 Journal article (peer-reviewed)abstract The Autism – Tics, AD/HD, and other Comorbidities inventory (A-TAC) is a comprehensive interview for evaluating problems related to autism spectrum disorders (ASD), tic disorders, attention-deficit/hyperactivity disorder (AD/HD), and common comorbid conditions in children and adolescents. A-TAC telephone interviews were administered to parents of 2,957 children aged nine- or twelve-years, representing one in each twin pair included in the population- based Child and Adolescent Twin Study in Sweden (CATSS). A total of 16.4% were screen-positive for one or several of the targeted disorder, 1.3% for ASD and 5.6% for AD/HD. All types of problems were more common among boys, with the exception of those related to “eating habits”. They were all dimensionally/continuously distributed, highly inter-correlated, and overlapped across types. They aggregated in three ba- sic factors corresponding to externalizing/disruptiveness, socio-communicative problems, and compulsiveness. Population-based data on problems in children thus challenge current categorical diagnostic definitions, calling for dimen- sional and complementary models of problem descriptions.
2.	Anckarsäter, Henrik, 1966, et al. (author) The Child and Adolescent Twin Study in Sweden (CATSS). 2011 In: Twin Research and Human Genetics. - : Cambridge University Press (CUP). - 1832-4274 .- 1839-2628. ; 14:6, s. 495-508 Journal article (peer-reviewed)abstract The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing longitudinal twin study targeting all twins born in Sweden since July 1, 1992. Since 2004, parents of twins are interviewed regarding the children's somatic and mental health and social environment in connection with their 9th or 12th birthdays (CATSS-9/12). By January 2010, 8,610 parental interviews concerning 17,220 twins had been completed, with an overall response rate of 80%. At age 15 (CATSS-15) and 18 (CATSS-18), twins and parents complete questionnaires that, in addition to assessments of somatic and mental health, include measures of personality development and psychosocial adaptation. Twin pairs in CATSS-9/12 with one or both twins screening positive for autism spectrum disorders, attention deficit/hyperactivity disorder, tic disorders, developmental coordination disorder, learning disorders, oppositional defiant disorder, conduct disorder, obsessive-compulsive disorder, and/or eating problems have been followed with in-depth questionnaires on family, social environment and personality, and subsequently by clinical assessments at age 15 together with randomly selected population controls, including 195 clinically assessed twin pairs from the first 2 year cohorts (CATSS-15/DOGSS). This article describes the cohorts and study groups, data collection, and measures used. Prevalences, distributions, heritability estimates, ages at onset, and sex differences of mental health problems in the CATSS-9/12, that were analyzed and found to be overall comparable to those of other clinical and epidemiological studies. The CATSS study has the potential of answering important questions on the etiology of childhood mental health problems and their role in the development of later adjustment problems.
3.	Authier, Matthieu, et al. (author) Workshop on fisheries Emergency Measures to minimize BYCatch of short-beaked common dolphins in the Bay of Biscay and harbour porpoise in the Baltic Sea (WKEMBYC) 2020 Reports (other academic/artistic)
4.	Bertolino, Mattias, et al. (author) Thomas-Reiche-Kuhn correction for truncated configuration-interaction spaces : Case of laser-assisted dynamical interference 2022 In: Physical Review A: covering atomic, molecular, and optical physics and quantum information. - 2469-9926 .- 2469-9934. ; 106:4 Journal article (peer-reviewed)abstract The Thomas-Reiche-Kuhn sum rule is used to form an effective potential that is added to the time-dependent configuration-interaction singles (TDCIS) equations of motion in velocity gauge. The purpose of the effective potential is to include virtual coupling from singles to doubles, which is required for size-consistent velocity-gauge TDCIS results. The proposed method is compared to length-gauge TDCIS results for laser-assisted photoionization. Finally, a dynamical interference effect controlled by two-color fields is predicted for atomic targets.
5.	Evenäs, Johan, et al. (author) Ca2+ binding and conformational changes in a calmodulin domain 1998 In: Biochemistry. - : American Chemical Society (ACS). - 0006-2960 .- 1520-4995. ; 37:39, s. 13744-13754 Journal article (peer-reviewed)abstract Calcium activation of the C-terminal domain of calmodulin was studied using 1H and 15N NMR spectroscopy. The important role played by the conserved bidentate glutmate Ca2+ ligand in the binding loops is emphasized by the striking effects resulting from a mutation of this glutantic acid to a glutamine, i.e. E104Q in loop III and E140Q in loop IV. The study involves determination of Ca2+ binding constants, assignments, and structural characterizations of the apo, (Ca2+)1, and (Ca2+)2 states of the E104Q mutant and comparisons to the wild-type protein and the E140Q mutant [Evenas et al. (1997) Biochemistry 36, 3448-3457]. NMR titration data show sequential Ca2+ binding in the E104Q mutant. The first Ca2+ binds to loop IV and the second to loop III, which is the order reverse to that observed for the E140Q mutant. In both mutants, the major structural changes occur upon Ca2+ binding to loop IV, which implies a different response to Ca2+ binding in the N- and C-terminal EF-hands. Spectral characteristics show that the (Ca2+)1 and (Ca2+)2 states of the E104Q mutant undergo global exchange on a 10-100 μs time scale between conformations seemingly similar to the closed and open structures of this domain in wild-type calmodulin, paralleling earlier observations for the (Ca2+)2 state of the E140Q mutant, indicating that both glutamic acid residues, E104 and E140, are required for stabilization of the open conformation in the (Ca2+)2 state. To verify that the NOE constraints cannot be fulfilled in a single structure, solution structures of the (Ca2+)2 state of the E104Q mutant are calculated. Within the ensemble of structures the precision is good. However, the clearly dynamic nature of the state, a large number of violated distance restraints, ill-defined secondary structural elements, and comparisons to the structures of calmodulin indicate that the ensemble does not provide a good picture of the (Ca2+)2 state of the E104Q mutant but rather represents the distance- averaged structure of at least two distinct different conformations.
6.	Evenäs, Johan, et al. (author) NMR studies of the E140Q mutant of the carboxy-terminal domain of calmodulin reveal global conformational exchange in the Ca2+-saturated state 1997 In: Biochemistry. - : American Chemical Society (ACS). - 0006-2960 .- 1520-4995. ; 36:12, s. 3448-3457 Journal article (peer-reviewed)abstract In the present investigation, the Ca2+ activation of the C-terminal domain of bovine calmodulin and the effects of replacing the bidentate Ca2+-coordinating glutamic acid residue in the 12th and last position of loop IV with a glutamine are studied by NMR spectroscopy. The mutation E140Q results in sequential Ca2+ binding in this domain and has far-reaching effects on the structure of (Ca2+)2 TR2C, thereby providing further evidence for the critical role of this glutamic acid residue for the Ca2+- induced conformational change of regulatory EF-hand proteins. Analyses of the NOESY spectra of the mutant under Ca2+-saturated conditions, such that 97% of the protein is in the (Ca2+)2 form, revealed two sets of mutually exclusive NOEs. One set of NOEs is found to be consistent with the closed structure observed in the apo state of the C-terminal domain of the wild- type protein, while the other set supports the open structure observed in the Ca2+-saturated state. In addition, several residues in the hydrophobic core exhibit broadened resonances. We conclude that the (Ca2+)2 form of the mutant experiences a global conformational exchange between states similar to the closed and open conformations of the C-terminal domain of wild-type calmodulin. A population of 65 ± 15% of the open conformation and an exchange rate of (1-7) x 104 s-1 were estimated from the NMR data and the chemical shifts of the wild-type protein. From a Ca2- titration of the 15N-labeled mutant, the macroscopic binding constants (log(K1) = 4.9 ± 0.3 and log(K2) = 3.15 ± 0.10] and the inherent chemical shifts of the intermediate (Ca2+)1 form of the mutant were determined using NMR. Valuable information was also provided on the mechanism of the Ca2+ activation and the roles of the structural elements in the two Ca2+- binding events. Comparison with the wild-type protein indicates that the (Ca2+)1 conformation of the mutant is essentially closed but that some rearrangement of the empty loop IV toward the Ca2+-bound form has occurred.
7.	Gillberg, Christopher, 1950, et al. (author) Mental retardation in Swedish urban children: some epidemiological considerations. 1983 In: Applied Research in Mental Retardation. - 0270-3092. ; 4:3, s. 207-218 Journal article (peer-reviewed)abstract The total population of children born in 1971 and living in Gothenburg, Sweden, by the end of 1977 was screened in order to estimate prevalence figures for various neurodevelopmental disorders. Ninety-four percent of all children assessed attended public preschools. Questionnaires aimed at detecting perceptual, conceptual, motor, and attentional deficits were completed by preschool teachers for 72% of children in these schools. Samples of children with and without problems on the questionnaire were given neuropsychiatric examinations. National registers were searched to identify mentally retarded children not in public preschools. The total population frequency figure for unequivocal mental retardation was almost 1% with an additional 1% of the total population deemed to be of borderline intelligence.
8.	Gillberg, Christopher, 1950, et al. (author) Perceptual, motor and attentional deficits in seven-year-old children. Neurological screening aspects. 1983 In: Acta Paediatrica Scandinavica. - 0001-656X. ; 72:1, s. 119-124 Journal article (peer-reviewed)abstract In an extensive neuropsychiatric study of seven-year-old children, operational criteria for diagnosing minimal brain dysfunction (MBD) syndrome were used. Detailed behavioural assessment and meticulous neurological examination provided the basis for the MBD diagnosis. The time-consuming specialist examination by the child neurologist was considered too sophisticated for use in everyday clinical practice. Therefore, the results obtained at a short neurodevelopmental screening assessment performed by a child psychiatrist were analysed with the aim of finding a limited set of neurological examination items with high discriminating capacity detecting for MBD syndromes. A set of six such items (diadochokinesis, hopping on one leg, standing on one leg, cutting out a paper circle, associated movements when walking on lateral sides of feet and the labyrinth test of the WISC) produced a minimal rate of misclassified cases. It is argued that this discriminant set may be useful in everyday child psychiatric and pediatric assessment of children who raise suspicion of suffering from MBD.
9.	Gillberg, Christopher, 1950, et al. (author) Perceptual, motor and attentional deficits in six-year-old children. Epidemiological aspects. 1982 In: Journal of Child Psychology and Psychiatry, and Allied Disciplines. - 0021-9630. ; 23:2, s. 131-144 Journal article (peer-reviewed)abstract A total population study of 4797 six-year-old children attending the public preschools in the city of Göteborg (Gothenburg) has been carried out. A questionnaire with 34 questions about MBD-related problems was distributed to all pre-school teachers. Three thousand four hundred and forty-eight questionnaires were completed. Factor analysis of the questionnaire and empirical results from a pilot study provided the basis for selecting for further study children with pre-school signs and symptoms suggestive of MBD. Neurological, psychiatric and psychological assessment of 82 children with, and 59 children without, pre-school symptoms of MBD revealed that in the index groups 41% of the children, and in the control group 3% of the children, had MBD. Extrapolation procedures gave a total population frequency of 1.2% with severe MBD and a further 5.9% with mild-moderate MBD. A very large questionnaire refusal rate (28%) is discussed. The relevance of the calculated frequency figures, especially as regards the mild-moderate MBD category, cannot be properly evaluated until long-term follow-up has been completed.
10.	Gustafsson, Stefan, 1976, et al. (author) Alumina/silicon carbide composites fabricated via in situ synthesis of nano-sized SiC particles 2009 In: Ceramics International. - : Elsevier BV. - 0272-8842 .- 1873-3956. ; 35:3, s. 1293-1296 Journal article (peer-reviewed)abstract Alumina/silicon carbide composites have been fabricated by a new technique involving the in situ synthesis of nano-sized SiC particles. A mixture of alumina powder and silicon carbide precursors was prepared in an aqueous suspension. Green bodies were formed by cold isostatic pressing of granules obtained by freeze granulation, and pressureless sintered at 1750 °C for 4 h in an argon atmosphere. Mullite (10-20 vol%) formed in addition to SiC during sintering. The SiC particles were located predominantly to the interior of the mullite and alumina matrix grains. © 2008 Elsevier Ltd and Techna Group S.r.l.
11.	Gustafsson, Stefan, 1976, et al. (author) Development of microstructure during creep of polycrystalline mullite and a nanocomposite mullite/5 vol.% SiC 2009 In: Journal of the European Ceramic Society. - : Elsevier BV. - 0955-2219 .- 1873-619X. ; 29:4, s. 539-550 Journal article (peer-reviewed)abstract The microstructures of as-sintered and creep tested polycrystalline mullite and mullite reinforced with 5 vol.% nano-sized SiC particles have been characterized by scanning and transmission electron microscopy. The dislocation densities after tensile creep testing at 1300 and 1400 °C were virtually unchanged as compared to the as-sintered materials which indicates diffusion-controlled deformation. Mullite matrix grain boundaries bending around intergranular SiC particles suggest that grain boundary pinning, in addition to a reduced mullite grain size, contributed to the increased creep resistance of the mullite/5 vol.% SiC nanocomposite. Both materials showed pronounced cavitation at multi-grain junctions after creep testing at 1400 °C which suggests that unaccommodated grain boundary sliding, facilitated by softening of the intergranular glass, occurred at this temperature. This is consistent with the higher stress exponents at 1400 °C. © 2008 Elsevier Ltd. All rights reserved.
12.	Hansson, Sara Lina, et al. (author) The Autism--Tics, AD/HD and other Comorbidities (A-TAC) telephone interview: convergence with the Child Behavior Checklist (CBCL). 2010 In: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 64:3, s. 218-224 Journal article (peer-reviewed)abstract Objective: To compare telephone interview screening for child psychiatric/neuropsychiatric disorders using the inventory of Autism-Tics, Attention deficit/hyperactivity disorder (AD/HD) and other Comorbidities (A-TAC) with results from the Child Behavior Checklist (CBCL). Background: The A-TAC is a parent telephone interview focusing on autism spectrum disorders (ASDs) and co-existing problems, developed for lay interviewers. Subjects and methods: A-TAC telephone interviews and CBCL questionnaires were obtained from parents of 106 Swedish twin pairs aged 9 and 12 years. Results: Correlations between A-TAC modules and CBCL scales aimed at measuring similar concepts were generally significant albeit modest, with correlation coefficients ranging from 0.30 through 0.55. Conclusion: The A-TAC has convergent validity with the CBCL in several problem areas, but the A-TAC also provides more detailed and specific assessments of ASD symptoms and related neuropsychiatric problems.
13.	Jiang, Lin, et al. (author) Haloperidol changes mRNA expression of a QKI splice variant in human astrocytoma cells. 2009 In: BMC pharmacology. - : Springer Science and Business Media LLC. - 1471-2210. ; 9, s. 6- Journal article (peer-reviewed)abstract BACKGROUND: The quaking homolog, KH domain RNA binding (mouse) (QKI) is a candidate gene for schizophrenia. Disturbed QKI mRNA expression is observed in the prefrontal cortex of patients, and some of these changes correlate to treatment with antipsychotic drugs.To test if low doses of antipsychotic drugs can modify QKI mRNA expression, human astrocytoma (U343) and oligodendroglioma (HOG) cell lines were treated with five different antipsychotic drugs including Haloperidol, Aripiprazole, Clozapine, Olanzapine and Risperidone. Messenger RNA expression levels of splice variants QKI-5, QKI-6 and QKI-7 were measured by Real-Time PCR. RESULTS: Haloperidol treatment (0.2 microM) doubled QKI-7 mRNA levels in U343 cells after 6 hours (p-value < 0.02). The effect was dose dependent, and cells treated with ten times higher concentration (2 microM) responded with a five-fold and three-fold increase in QKI-7, 6 and 24 hours after treatment, respectively (p-values < 0.0001). CONCLUSION: The results in U343 cells suggest that QKI-7 mRNA expression in human astrocytes is induced by Haloperidol, at concentrations similar to plasma levels relevant to clinical treatment of schizophrenia. The molecular mechanism of action of antipsychotic drugs after binding to receptors is not well known. We hypothesize that QKI regulation is involved in this mechanism.
14.	Jiang, Lin, et al. (author) QKI-7 regulates expression of interferon-related genes in human astrocyte glioma cells 2010 In: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 5:9, s. e13079- Journal article (peer-reviewed)abstract BACKGROUND: The human QKI gene, called quaking homolog, KH domain RNA binding (mouse), is a candidate gene for schizophrenia encoding an RNA-binding protein. This gene was shown to be essential for myelination in oligodendrocytes. QKI is also highly expressed in astrocytes, but its function in these cells is not known. METHODS/PRINCIPAL FINDINGS: We studied the effect of small interference RNA (siRNA)-mediated QKI depletion on global gene expression in human astrocyte glioma cells. Microarray measurements were confirmed with real-time quantitative polymerase chain reaction (qPCR). The presence of QKI binding sites (QRE) was assessed by a bioinformatic approach. Viability and cell morphology were also studied. The most significant alteration after QKI silencing was the decreased expression of genes involved in interferon (IFN) induction (P = 6.3E-10), including IFIT1, IFIT2, MX1, MX2, G1P2, G1P3, GBP1 and IFIH1. All eight genes were down-regulated after silencing of the splice variant QKI-7, but were not affected by QKI-5 silencing. Interestingly, four of them were up-regulated after treatment with the antipsychotic agent haloperidol that also resulted in increased QKI-7 mRNA levels. CONCLUSIONS/SIGNIFICANCE: The coordinated expression of QKI-7 splice variant and IFN-related genes supports the idea that this particular splice variant has specific functions in astrocytes. Furthermore, a role of QKI-7 as a regulator of an inflammatory gene pathway in astrocytes is suggested. This hypothesis is well in line with growing experimental evidence on the role of inflammatory components in schizophrenia.
15.	Just, David, et al. (author) Exploring autoantibody signatures in brain tissue from patients with severe mental illness 2020 In: Translational Psychiatry. - : Springer Nature. - 2158-3188. ; 10:1 Journal article (peer-reviewed)abstract In recent years, studies have shown higher prevalence of autoantibodies in patients with schizophrenia compared to healthy individuals. This study applies an untargeted and a targeted affinity proteomics approach to explore and characterize the autoantibody repertoire in brain tissues from 73 subjects diagnosed with schizophrenia and 52 control subjects with no psychiatric or neurological disorders. Selected brain tissue lysates were first explored for IgG reactivity on planar microarrays composed of 11,520 protein fragments representing 10,820 unique proteins. Based on these results of ours and other previous studies of autoantibodies related to psychosis, we selected 226 fragments with an average length of 80 amino acids, representing 127 unique proteins. Tissue-based analysis of IgG reactivities using antigen suspension bead arrays was performed in a multiplex and parallel fashion for all 125 subjects. Among the detected autoantigens, higher IgG reactivity in subjects with schizophrenia, as compared to psychiatrically healthy subjects, was found against the glutamate ionotropic receptor NMDA type subunit 2D (anti-GluN2D). In a separate cohort with serum samples from 395 young adults with a wider spectrum of psychiatric disorders, higher levels of serum autoantibodies targeting GluN2D were found when compared to 102 control individuals. By further validating GluN2D and additional potential autoantigens, we will seek insights into how these are associated with severe mental illnesses.
16.	Just, David, et al. (author) Exploring autoantibody signatures in brain tissue lysates from patients with schizophrenia Other publication (other academic/artistic)
17.	Just, David, et al. (author) Towards Molecular Insights Into Psychiatric Disorders Using Affinity Proteomics 2018 In: Schizophrenia Bulletin. - : Oxford University Press. - 0586-7614 .- 1745-1701. ; 44, s. S223-S223 Journal article (other academic/artistic)
18.	Kerekes, Nora, 1969, et al. (author) The Swedish version of the parent-rated Junior Temperament and Character Inventory (J-TCI). 2010 In: Psychological reports. - 0033-2941. ; 107:3, s. 715-25 Journal article (peer-reviewed)abstract To evaluate the psychometric characteristics of the Swedish version of the Junior Temperament and Character Inventory (J-TCI), it was sent to parents of 9- and 12-yr.-old twins in Sweden. The final number of responders was 196 parents who rated 92 female and 104 male twin pairs. The inventory of one twin, randomly chosen from each pair, was included in the analyses. Reward Dependence, Persistence, and Cooperativeness were scored higher in girls; Novelty Seeking was higher in the 9-yr.-olds and Persistence in the 12-yr.-olds. Pearson's correlations showed that some dimensions were not statistically independent from each other, even if the covariance was moderate. Internal consistency (Cronbach's alpha) was satisfactory for Harm Avoidance, Novelty Seeking, Self-Directedness, and Cooperativeness (.68-.81), while it was lower in those dimensions that had fewer items. The Swedish parent version of the J-TCI shared about the same psychometric characteristics as found in international samples.
19.	Larson, Tomas, 1967, et al. (author) The autism--tics, AD/HD and other comorbidities inventory (A-TAC): further validation of a telephone interview for epidemiological research. 2010 In: BMC Psychiatry. - 1471-244X. ; 10 Journal article (peer-reviewed)abstract ABSTRACT: BACKGROUND: Reliable, valid, and easy-to-administer instruments to identify possible caseness and to provide proxies for clinical diagnoses are needed in epidemiological research on child and adolescent mental health.The aim of this study is to provide further validity data for a parent telephone interview focused on Autism - Tics, Attention-deficit/hyperactivity disorder (AD/HD), and other Comorbidities (A-TAC), for which reliability and preliminary validation data have been previously reported. METHODS: Parents of 91 children clinically diagnosed at a specialized Child Neuropsychiatric Clinic, 366 control children and 319 children for whom clinical diagnoses had been previously assigned were interviewed by the A-TAC over the phone. Interviewers were blind to clinical information. Different scores from the A-TAC were compared to the diagnostic outcome. RESULTS: Areas under ROC curves for interview scores as predictors of clinical diagnoses were around 0.95 for most disorders, including autism spectrum disorders (ASDs), attention deficit/hyperactivity disorder (AD/HD), tic disorders, developmental coordination disorders (DCD) and learning disorders, indicating excellent screening properties. Screening cut-off scores with sensitivities above 0.90 (0.95 for ASD and AD/HD) were established for most conditions, as well as cut-off scores to identify proxies to clinical diagnoses with specificities above 0.90 (0.95 for ASD and AD/HD). CONCLUSIONS: The previously reported validity of the A-TAC was supported by this larger replication study using broader scales from the A-TAC-items and a larger number of diagnostic categories. Short versions of algorithms worked as well as larger. Different cut-off levels for screening versus identifying proxies for clinical diagnoses are warranted. Data on the validity for mood problems and oppositional defiant/conduct problems are still lacking. Although the A-TAC is principally intended for epidemiological research and general investigations, the instrument may be useful as a tool to collect information in clinical practice as well.
20.	Lichtenstein, Paul, et al. (author) The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. 2010 In: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 167:11, s. 1357-1363 Journal article (peer-reviewed)abstract Objective: Autism spectrum disorders are considered to be among the most heritable mental disorders, a notion based on surprisingly sparse data from small clinical studies. Population-based studies of the heritability of other neuro-psychiatric disorders and comorbidities among them have also been sparse. The authors sought to address both of these issues. Method: Parents of all Swedish 9- and 12-year-old twin pairs born between 1992 and 2000 (N=10,895) were interviewed regarding autism spectrum disorders and associated conditions (response rate, 80%). Concordance rates and structural equation modeling were used for evaluating causes for familial aggregation and overlap between conditions. Results: Monozygotic twins had higher concordance rates than dizygotic twins for autism spectrum disorders, attention defcit hyperactivity disorder (ADHD), developmental coordination disorder, and tic disorder. Genetic effects accounted for 80% (95% CI=29-91) of the variation in liability for autism spectrum disorders, 79% (95% CI=61-88) for ADHD, 70% (95% CI=35-83) for developmental coordination disorder, and 56% (95% CI=37-68) for tic disorder. Among monozygotic co-twins of children with autism spectrum disorders, the probability of having a diagnosis of ADHD was 44%, compared with 15% for dizygotic co-twins. Differences in cross-disorder effects between monozygotic and dizygotic twins were observed for most other comorbidities, and substantial proportions of the genetic variance for autism spectrum disorders was shared with each of the other disorders. Conclusions: Different neuropsychiatric disorders seem to have a common genetic etiology, suggesting caution in the use of diagnostic entities and proband status in efforts to uncover genes predisposing to autism spectrum disorders.
21.	Lichtenstein, Paul, et al. (author) The Swedish Twin study of CHild and Adolescent Development : the TCHAD-study 2007 In: Twin Research and Human Genetics. - : Cambridge University Press (CUP). - 1832-4274 .- 1839-2628. ; 10:1, s. 67-73 Journal article (peer-reviewed)abstract The Swedish Twin study of CHild and Adolescent Development (TCHAD) is a longitudinal study of how genes and environments contribute to development of health and behavioral problems from childhood to adulthood. The study includes 1480 twin pairs followed since 1994, when the twins were 8 to 9 years old. The last data collection was in 2005 when the twins were 19 to 20 years old. Both parents and twins have provided data. In this article we describe the sample, data collections, and measures used. In addition, we provide some key findings from the study, focusing on antisocial behavior, criminality, and psychopathic personality.
22.	Lindholm Carlström, Eva, et al. (author) Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family 2019 In: BMC Medical Genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 12:1 Journal article (peer-reviewed)abstract BackgroundNon-syndromic intellectual disability is genetically heterogeneous with dominant, recessive and complex forms of inheritance. We have performed detailed genetic studies in a large multi-generational Swedish family, including several members diagnosed with non-syndromic intellectual disability. Linkage analysis was performed on 22 family members, nine affected with mild to moderate intellectual disability and 13 unaffected family members.Methods Family members were analyzed with Affymetrix Genome-Wide Human SNP Array 6.0 and the genetic data was used to detect copy number variation and to perform genome wide linkage analysis with the SNP High Throughput Linkage analysis system and the Merlin software. For the exome sequencing, the samples were prepared using the Sure Select Human All Exon Kit (Agilent Technologies, Santa Clara, CA, USA) and sequenced using the Ion Proton (TM) System. Validation of identified variants was performed with Sanger sequencing.ResultsThe linkage analysis results indicate that intellectual disability in this family is genetically heterogeneous, with suggestive linkage found on chromosomes 1q31-q41, 4q32-q35, 6p25 and 14q24-q31 (LOD scores of 2.4, simulated p-value of 0.000003 and a simulated genome-wide p-value of 0.06). Exome sequencing was then performed in 14 family members and 7 unrelated individuals from the same region. The analysis of coding variation revealed a pathogenic and candidate variants in different branches of the family. In three patients we find a known homozygous pathogenic mutation in the Homo sapiens solute carrier family 17 member 5 (SLC17A5), causing Salla disease. We also identify a deletion overlapping KDM3B and a duplication overlapping MAP3K4 and AGPAT4, both overlapping variants previously reported in developmental disorders.Conclusions DNA samples from the large family analyzed in this study were initially collected based on a hypothesis that affected members shared a major genetic risk factor. Our results show that a complex phenotype such as mild intellectual disability in large families from genetically isolated populations may show considerable genetic heterogeneity.
23.	Lindholm Carlström, Eva, et al. (author) Transcriptome analysis of post-mortem brain tissue reveals up-regulation of the complement cascade in a subgroup of schizophrenia patients 2021 In: Genes. - : MDPI. - 2073-4425. ; 12:8 Journal article (peer-reviewed)abstract Schizophrenia is a genetically complex neuropsychiatric disorder with largely unresolved mechanisms of pathology. Identification of genes and pathways associated with schizophrenia is important for understanding the development, progression and treatment of schizophrenia. In this study, pathways associated with schizophrenia were explored at the level of gene expression. The study included post-mortem brain tissue samples from 68 schizophrenia patients and 44 age and sex-matched control subjects. Whole transcriptome poly-A selected paired-end RNA sequencing was performed on tissue from the prefrontal cortex and orbitofrontal cortex. RNA expression differences were detected between case and control individuals, focusing both on single genes and pathways. The results were validated with RT-qPCR. Significant differential expression between patient and controls groups was found for 71 genes. Gene ontology analysis of differentially expressed genes revealed an up-regulation of multiple genes in immune response among the patients (corrected p-value = 0.004). Several genes in the category belong to the complement system, including C1R, C1S, C7, FCN3, SERPING1, C4A and CFI. The increased complement expression is primarily driven by a subgroup of patients with increased expression of immune/inflammatory response genes, pointing to important differences in disease etiology within the patient group. Weighted gene co-expression network analysis highlighted networks associated with both synaptic transmission and activation of the immune response. Our results demonstrate the importance of immune-related pathways in schizophrenia and provide evidence for elevated expression of the complement cascade as an important pathway in schizophrenia pathology.
24.	Lundström, Sebastian, et al. (author) Trajectories leading to autism spectrum disorders are affected by paternal age: findings from two nationally representative twin studies. 2010 In: Journal of Child Psychology and Psychiatry, and Allied Disciplines. - : Wiley. - 0021-9630 .- 1469-7610. ; 51:7, s. 850-856 Journal article (peer-reviewed)abstract Background: Despite extensive efforts, the causes of autism remain unknown. Advancing paternal age has been associated with various neurodevelopmental disorders. We aim to investigate three unresolved questions: (a) What is the association between paternal age and autism spectrum disorders (ASD)?; (b) Does paternal age moderate the genetic and environmental etiological factors for ASD? (c) Does paternal age affect normal variation in autistic-like traits? Methods: Two nationally representative twin studies from Sweden (n = 11, 122, assessed at age 9 or 12) and the UK (n = 13, 524, assessed at age 9) were used. Categorical and continuous measures of ASD, autistic-like traits and autistic similarity were calculated and compared over paternal age categories. Results: Both cohorts showed a strong association between paternal age and the risk for ASD. A U-shaped risk association could be discerned since the offspring of both the youngest and oldest fathers showed an elevation in the risk for ASD. Autistic similarity increased with advancing paternal age in both monozygotic and dizygotic twins. Both cohorts showed significantly higher autistic-like traits in the offspring of the youngest and oldest fathers. Conclusions: Phenomena associated with paternal age are clearly involved in the trajectories leading to autistic-like traits and ASD. Mechanisms influencing the trajectories might differ between older and younger fathers. Molecular genetic studies are now needed in order to further understand the association between paternal age and ASD, as well as normal variation in social, language, and repetitive behaviors in the general population.
25.	Mattsson, Cecilia, et al. (author) Gender-specific links between hepatic 11beta reduction of cortisone and adipokines 2007 In: Obesity. - : Wiley. - 1930-7381 .- 1930-739X. ; 15:4, s. 887-894 Journal article (peer-reviewed)abstract OBJECTIVE: Reduction of cortisone to cortisol is mediated by 11beta-hydroxysteroid dehydrogenase type 1 (11betaHSD1), a putative key enzyme in obesity-related complications. Experimental studies suggest that adipokines, notably leptin and tumor necrosis factor-alpha (TNF-alpha), are of importance for 11betaHSD1 activity. We hypothesized that the regulation of hepatic preceptor glucocorticoid metabolism is gender-specific and associated with circulating levels of leptin and TNF-alpha receptors and/or sex hormones. RESEARCH METHODS AND PROCEDURES: A total of 34 males and 38 women (14 premenopausal and 22 postmenopausal) underwent physical examination and fasting blood sampling. Insulin sensitivity was tested by euglycemic hyperinsulinemic clamps, and hepatic 11betaHSD1 enzyme activity was estimated by the conversion of orally-ingested cortisone to cortisol. RESULTS: Hepatic 11betaHSD1 activity was negatively associated with leptin and soluble TNF (sTNF) r1 and sTNFr2 in males. These correlations remained significant after adjustment for age and insulin sensitivity, and for sTNF-alpha receptors also after adjustment of BMI and waist circumference. In contrast, 11beta reduction of cortisone was positively associated to leptin in females after adjustment for BMI and waist circumference. DISCUSSION: Hepatic 11beta reduction shows different links to circulating adipocyte-derived hormones in males and females. This emphasizes the need for further studies on tissue-specific regulation of 11betaHSD1 in both genders.
26.	Moghadam, Behrooz Torabi, et al. (author) Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods 2019 In: Journal of Psychiatric Research. - : PERGAMON-ELSEVIER SCIENCE LTD. - 0022-3956 .- 1879-1379. ; 114, s. 41-47 Journal article (peer-reviewed)abstract Schizophrenia is a common mental disorder with high heritability. It is genetically complex and to date more than a hundred risk loci have been identified. Association of environmental factors and schizophrenia has also been reported, while epigenetic analyses have yielded ambiguous and sometimes conflicting results. Here, we analyzed fresh frozen post-mortem brain tissue from a cohort of 73 subjects diagnosed with schizophrenia and 52 control samples, using the Illumina Infinium HumanMethylation450 Bead Chip, to investigate genome-wide DNA methylation patterns in the two groups. Analysis of differential methylation was performed with the Bioconductor Minfi package and modern machine-learning and visualization techniques, which were shown previously to be successful in detecting and highlighting differentially methylated patterns in case-control studies. In this dataset, however, these methods did not uncover any significant signals discerning the patient group and healthy controls, suggesting that if there are methylation changes associated with schizophrenia, they are heterogeneous and complex with small effect.
27.	Radomska, Katarzyna J., et al. (author) RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes 2013 In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 22:7, s. 1373-1382 Journal article (peer-reviewed)abstract Linkage, association and expression studies previously pointed to the human QKI, KH domain containing, RNA-binding (QKI) as a candidate gene for schizophrenia. Functional studies of the mouse orthologue Qk focused mainly on its role in oligodendrocyte development and myelination, while its function in astroglia remained unexplored. Here, we show that QKI is highly expressed in human primary astrocytes and that its splice forms encode proteins targeting different subcellular localizations. Uncovering the role of QKI in astrocytes is of interest in light of growing evidence implicating astrocyte dysfunction in the pathogenesis of several disorders of the central nervous system. We selectively silenced QKI splice variants in human primary astrocytes and used RNA sequencing to identify differential expression and splice variant composition at the genome-wide level. We found that an mRNA expression of Glial fibrillary acidic protein (GFAP), encoding a major component of astrocyte intermediate filaments, was down-regulated after QKI7 splice variant silencing. Moreover, we identified a potential QKI-binding site within the 3 untranslated region of human GFAP. This sequence was not conserved between mice and humans, raising the possibility that GFAP is a target for QKI in humans but not rodents. Haloperidol treatment of primary astrocytes resulted in coordinated increases in QKI7 and GFAP expression. Taken together, our results provide the first link between QKI and GFAP, two genes with alterations previously observed independently in schizophrenic patients. Our findings for QKI, together with its well-known role in myelination, suggest that QKI is a hub regulator of glia function in humans.
28.	Teze, David, et al. (author) Rational Enzyme Design without Structural Knowledge : A Sequence-Based Approach for Efficient Generation of Transglycosylases 2021 In: Chemistry: A European Journal. - : Wiley. - 1521-3765 .- 0947-6539. ; 27:40, s. 10323-10334 Journal article (peer-reviewed)abstract Glycobiology is dogged by the relative scarcity of synthetic, defined oligosaccharides. Enzyme-catalysed glycosylation using glycoside hydrolases is feasible but is hampered by the innate hydrolytic activity of these enzymes. Protein engineering is useful to remedy this, but it usually requires prior structural knowledge of the target enzyme, and/or relies on extensive, time-consuming screening and analysis. Here we describe a straightforward strategy that involves rational rapid in silico analysis of protein sequences. The method pinpoints 6-12 single mutant candidates to improve transglycosylation yields. Requiring very little prior knowledge of the target enzyme other than its sequence, the method is generic and procures catalysts for the formation of glycosidic bonds involving various d / l -, α/β-pyranosides or furanosides, and exo - and endo -action. Moreover, mutations validated in one enzyme can be transposed to others, even distantly related enzymes.
29.	Torabi Moghadam, Behrooz, et al. (author) Analyzing DNA methylation patterns in Schizophrenic patients using machine learning methods Journal article (other academic/artistic)abstract Schizophrenia is common mental disorder with known genetic component involved. Since the association of environmental factors and schizophrenia has been reported, we analyzed a cohort of 75 schizophrenic and 50 control samples to investigate DNA methylation patterns, as one of the key players of epigenetic gene regulation.Here we applied machine-learning and visualization methods, which were shown previously to be successful in detecting and highlighting differentially methylated patterns between cases and controls. On this data set, however, these methods did not uncover any signal discerning schizophrenia patients and healthy controls, suggesting that if a link exists, it is heterogeneous and complex.

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