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24 results on '"Ekholm, Jenny"'

1. Germline mosaicism of a missense variant inKCNC2in a multiplex family with autism and epilepsy characterized by long‐read sequencing

Author

Mehinovic, Elvisa, primary, Gray, Teddi, additional, Campbell, Meghan, additional, Ekholm, Jenny, additional, Wenger, Aaron, additional, Rowell, William, additional, Grudo, Ari, additional, Grimwood, Jane, additional, Korlach, Jonas, additional, Gurnett, Christina, additional, Constantino, John N., additional, and Turner, Tychele N., additional

Published
2022
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2. Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

Author

Laine, Pia, primary, Rowell, William J., additional, Paulin, Lars, additional, Kujawa, Steve, additional, Raterman, Denise, additional, Mayhew, George, additional, Wendt, Jennifer, additional, Burgess, Daniel L., additional, Partonen, Timo, additional, Paunio, Tiina, additional, Auvinen, Petri, additional, and Ekholm, Jenny M., additional

Published
2021
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4. Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing.

Author

Mehinovic, Elvisa, Gray, Teddi, Campbell, Meghan, Ekholm, Jenny, Wenger, Aaron, Rowell, William, Grudo, Ari, Grimwood, Jane, Korlach, Jonas, Gurnett, Christina, Constantino, John N., and Turner, Tychele N.

Abstract

Currently, protein‐coding de novo variants and large copy number variants have been identified as important for ~30% of individuals with autism. One approach to identify relevant variation in individuals who lack these types of events is by utilizing newer genomic technologies. In this study, highly accurate PacBio HiFi long‐read sequencing was applied to a family with autism, epileptic encephalopathy, cognitive impairment, and mild dysmorphic features (two affected female siblings, unaffected parents, and one unaffected male sibling) with no known clinical variant. From our long‐read sequencing data, a de novo missense variant in the KCNC2 gene (encodes Kv3.2) was identified in both affected children. This variant was phased to the paternal chromosome of origin and is likely a germline mosaic. In silico assessment revealed the variant was not in controls, highly conserved, and predicted damaging. This specific missense variant (Val473Ala) has been shown in both an ortholog and paralog of Kv3.2 to accelerate current decay, shift the voltage dependence of activation, and prevent the channel from entering a long‐lasting open state. Seven additional missense variants have been identified in other individuals with neurodevelopmental disorders (p = 1.03 × 10−5). KCNC2 is most highly expressed in the brain; in particular, in the thalamus and is enriched in GABAergic neurons. Long‐read sequencing was useful in discovering the relevant variant in this family with autism that had remained a mystery for several years and will potentially have great benefits in the clinic once it is widely available. [ABSTRACT FROM AUTHOR]

Published
2022
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5. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part III: bipolar disorder

Author

Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, Nurnberger, John I., Jr., Craddock, Nick, DePaulo, J. Raymond, Baron, Miron, Gershon, Elliot S., Ekholm, Jenny, Cichon, Sven, Turecki, Gustavo, Claes, Stephan, Kelsoe, John R., Schofield, Peter R., Badenhop, Renee F., Morissette, J., Coon, Hilary, Blackwood, Douglas, McInnes, L. Alison, Foroud, Tatiana, Edenberg, Howard J., Reich, Theodore, Rice, John P., Goate, Alison, McInnis, Melvin G., McMahon, Francis J., Badner, Judith A., Goldin, Lynn R., Bennett, Phil, Willour, Virginia L., Zandi, Peter P., Liu, Jianjun, Gilliam, Conrad, Juo, Suh-Hang, Berrettini, Wade H., Yoshikawa, Takeo, Peltonen, Leena, Lonnqvist, Jouko, Nothen, Markus M., Schumacher, Johannes, Windemuth, Christine, Rietschel, Marcella, Propping, Peter, Maier, Wolfgang, Alda, Martin, Grof, Paul, Rouleau, Guy A., Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Adolfsson, Rolf, Spence, M. Anne, Luebbert, Hermann, Adams, Linda J., Donald, Jennifer A., Mitchell, Philip B., Barden, Nicholas, Shink, Eric, Byerley, William, Muir, Walter, Visscher, Peter M., Macgregor, Stuart, Gurling, Hugh, Kalsi, Gursharan, McQuillin, Andrew, Escamilla, Michael A., Reus, Victor I., Leon, Pedro, Freimer, Nelson B., Ewald, Henrik, Kruse, Torben A., Mors, Ole, Radhakrishna, Uppala, Blouin, Jean-Louis, Antonarakis, Stylianos E., and Akarsu, Nurten

Subjects
Bipolar disorder -- Research, Bipolar disorder -- Genetic aspects, Schizophrenia -- Research, Schizophrenia -- Genetic aspects, Biological sciences
Published
2003

9. Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

Author

Wieben, Eric D., primary, Aleff, Ross A., additional, Basu, Shubham, additional, Sarangi, Vivekananda, additional, Bowman, Brett, additional, McLaughlin, Ian J., additional, Mills, John R., additional, Butz, Malinda L., additional, Highsmith, Edward W., additional, Ida, Cristiane M., additional, Ekholm, Jenny M., additional, Baratz, Keith H., additional, and Fautsch, Michael P., additional

Published
2019
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11. An improved genome assembly uncovers prolific tandem repeats in Atlantic cod

Author

Tørresen, Ole K., primary, Star, Bastiaan, additional, Jentoft, Sissel, additional, Reinar, William B., additional, Grove, Harald, additional, Miller, Jason R., additional, Walenz, Brian P., additional, Knight, James, additional, Ekholm, Jenny M., additional, Peluso, Paul, additional, Edvardsen, Rolf B., additional, Tooming-Klunderud, Ave, additional, Skage, Morten, additional, Lien, Sigbjørn, additional, Jakobsen, Kjetill S., additional, and Nederbragt, Alexander J., additional

Published
2017
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13. An improved genome assembly uncovers prolific tandem repeats in Atlantic cod

Author

Tørresen, Ole K., primary, Star, Bastiaan, additional, Jentoft, Sissel, additional, Reinar, William B., additional, Grove, Harald, additional, Miller, Jason R., additional, Walenz, Brian P., additional, Knight, James, additional, Ekholm, Jenny M., additional, Peluso, Paul, additional, Edvardsen, Rolf B., additional, Tooming-Klunderud, Ave, additional, Skage, Morten, additional, Lien, Sigbjørn, additional, Jakobsen, Kjetill S., additional, and Nederbragt, Alexander J., additional

Published
2016
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14. Molecular Genetics of Bipolar Disorder and Related Traits

Author

Ekholm, Jenny, University of Helsinki, Faculty of Biosciences, Department of Biological and Environmental Sciences, Helsingin yliopisto, biotieteellinen tiedekunta, bio- ja ympäristötieteiden laitos, and Helsingfors universitet, biovetenskapliga fakulteten, institutionen för bio- och miljövetenskaper

Published
2006

15. Genome scan meta-analysis of schizophrenia and bipolar disorder, part 3: bipolar disorder

Author

Segurado, Ricardo, Detera-Wadleigh, Sevilla D., Levinson, Douglas F., Lewis, Cathryn M., Gill, Michael, Nurnberger, John I., Craddock, Nick, DePaulo, J. Raymond, Baron, Miron, Gershon, Elliot S., Ekholm, Jenny, Cichon, Sven, Turecki, Gustavo, Claes, Stephan, Kelsoe, John R., Schofield, Peter R., Badenhop, Renee F., Morisette, J., Coon, Hilary, Blackwood, Douglas, McInnes, L. Alison, Foroud, Tatiana, Edenberg, Howard J., Reich, Theodore, Rice, John P., Goate, Alison, McInnis, Melvin G., McMahon, Francis J., Badner, Judith A., Goldin, Lynn R., Bennett, Phil, Willour, Virginia L., Zandi, Peter P., Liu, Jianjun, Gilliam, Conrad, Juo, Suh-Hang, Berrettini, Wade H., Yoshikawa, Takeo, Peltonen, Leena, Lönnqvist, Jouko, Nöthen, Markus, Schumacher, Johannes, Windemuth, Christine, Rietschel, Marcella, Propping, Peter, Maier, Wolfgang, Alda, Martin, Grof, Paul, Rouleau, Guy A., Del-Favero, Jurgen, Van Broeckhoven, Christine, Mendlewicz, Julien, Adolfsson, Rolf, Spence, M. Anne, Luebbert, Hermann, Adams, Linda J., Donald, Jennifer A., Mitchell, Philip B., Barden, Nicholas, Shink, Eric, Byerley, William, Muir, Walter, Visscher, Peter M., Macgregor, Stuart, Gurling, Hugh, Kalsi, Gursharan, McQuillin, Andrew, Escamilla, Michael A., Reus, Victor I., Leon, Pedro, Freimer, Nelson B., Ewald, Henrik, Kruse, Torben A., Mors, Ole, Radhakrishna, Uppala, Blouin, Jean-Louis, Antonarakis, Stylianos E., and Akarsu, Nurten

Abstract

Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions with significant support for linkage in the combined data. The two primary analyses considered available linkage data for very narrow (i.e., BP-I and schizoaffective disorderBP) and narrow (i.e., adding BP-II disorder) disease models, with the ranks weighted for sample size. A broad model (i.e., adding recurrent major depression) and unweighted analyses were also performed. No region achieved genomewide statistical significance by several simulation-based criteria. The most significant P values (

Published
2003

16. Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism

Author

Johansson, Carolina, Willeit, Matthäeus, Aron, Liviu, Smedh, Christina, Ekholm, Jenny, Paunio, Tiina, Kieseppa, Tuula, Lichtermann, Dirk, Praschak-Rieder, Nicole, Neumeister, Alexander, Kasper, Siegfried, Peltonen, Leena, Adolfsson, Rolf, Partonen, Timo, Schalling, Martin, Johansson, Carolina, Willeit, Matthäeus, Aron, Liviu, Smedh, Christina, Ekholm, Jenny, Paunio, Tiina, Kieseppa, Tuula, Lichtermann, Dirk, Praschak-Rieder, Nicole, Neumeister, Alexander, Kasper, Siegfried, Peltonen, Leena, Adolfsson, Rolf, Partonen, Timo, and Schalling, Martin

Abstract

Background: Guanine nucleotide-binding proteins (G-proteins) have been implicated in affective disorders, with reports of altered signal transduction and G-protein levels. Association with seasonal affective disorder (SAD) has been found for the higher activity T-allele of the G-protein beta-3-subunit C825T polymorphism. Methods. European SAD patients (n = 159) and matched controls (n = 159) were genotyped for the C825T. Seasonality and diurnal preference were investigated in subsets of the material (n = 177 and 92, respectively). Results. We found no association between C825T and SAD (chi(2) = .09, p = .96) or seasonality (F = 1.76, p = .18). There was some evidence for an effect on diurnal preference but only in the control group (n = 46, t = - 2.8, Bonferroni corrected p = .045). Conclusions: These results suggest that the G-protein beta-3-subunit 825 T-allele does not play a major role in susceptibility to seasonal affective disorder in the population studied.

Published
2004
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17. Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder

Author

Zhou, Kaixin, primary, Dempfle, Astrid, additional, Arcos-Burgos, Mauricio, additional, Bakker, Steven C., additional, Banaschewski, Tobias, additional, Biederman, Joseph, additional, Buitelaar, Jan, additional, Castellanos, F. Xavier, additional, Doyle, Alysa, additional, Ebstein, Richard P., additional, Ekholm, Jenny, additional, Forabosco, Paola, additional, Franke, Barbara, additional, Freitag, Christine, additional, Friedel, Susann, additional, Gill, Michael, additional, Hebebrand, Johannes, additional, Hinney, Anke, additional, Jacob, Christian, additional, Lesch, Klaus Peter, additional, Loo, Sandra K., additional, Lopera, Francisco, additional, McCracken, James T., additional, McGough, James J., additional, Meyer, Jobst, additional, Mick, Eric, additional, Miranda, Ana, additional, Muenke, Maximilian, additional, Mulas, Fernando, additional, Nelson, Stanley F., additional, Nguyen, T.Trang, additional, Oades, Robert D., additional, Ogdie, Matthew N., additional, Palacio, Juan David, additional, Pineda, David, additional, Reif, Andreas, additional, Renner, Tobias J., additional, Roeyers, Herbert, additional, Romanos, Marcel, additional, Rothenberger, Aribert, additional, Schäfer, Helmut, additional, Sergeant, Joseph, additional, Sinke, Richard J., additional, Smalley, Susan L., additional, Sonuga-Barke, Edmund, additional, Steinhausen, Hans-Christoph, additional, van der Meulen, Emma, additional, Walitza, Susanne, additional, Warnke, Andreas, additional, Lewis, Cathryn M, additional, Faraone, Stephen V., additional, and Asherson, Philip, additional

Published
2008
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18. Health-related quality of life in women at work despite ill-health. A prospective, comparative study of hospital cleaners/home-help staff before and after staff support

Author

Landstad, Bodil, Ekholm, Jenny, Schuldt, K., Bergroth, Alf, Landstad, Bodil, Ekholm, Jenny, Schuldt, K., and Bergroth, Alf

Abstract

The aims of this prospective, non-randomized, comparative study were to elucidate how 99 female hospital cleaners and home-helps, at work despite ill-health, experienced their quality of life, and to study whether this was affected by a particular programme of staff support. The SF-36 questionnaire was used. This contains questions on physical, mental and social health status. Health status, i.e. experienced health, was assessed by the respondents themselves. Low quality of life relating to the dimensions bodily pain, general health perceptions and vitality proved to apply both to the hospital cleaners and the home-help staff, compared to a normal Swedish female population. No significant differences between the intervention group and the reference group were demonstrated among either the cleaners or the home-helps. Following the intervention/period of customary measures, experienced quality of lift was somewhat changed in the groups compared with the normal Swedish female population. This may indicate a certain unspecific improvement in experienced quality of life in both the intervention groups and the reference groups.

Published
2000
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20. DISC1 and neurocognitive function in schizophrenia

Author

Burdick, Katherine E., primary, Hodgkinson, Colin A., additional, Szeszko, Philip R., additional, Lencz, Todd, additional, Ekholm, Jenny M., additional, Kane, John M., additional, Goldman, David, additional, and Malhotra, Anil K., additional

Published
2005
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21. Seasonal affective disorder and the G-protein β-3-subunit C825T polymorphism

Author

Johansson, Carolina, primary, Willeit, Matthäeus, additional, Aron, Liviu, additional, Smedh, Christina, additional, Ekholm, Jenny, additional, Paunio, Tiina, additional, Kieseppä, Tuula, additional, Lichtermann, Dirk, additional, Praschak-Rieder, Nicole, additional, Neumeister, Alexander, additional, Kasper, Siegfried, additional, Peltonen, Leena, additional, Adolfsson, Rolf, additional, Partonen, Timo, additional, and Schalling, Martin, additional

Published
2004
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22. Circadian Clock-Related Polymorphisms in Seasonal Affective Disorder and their Relevance to Diurnal Preference

Author

Johansson, Carolina, primary, Willeit, Matthäeus, additional, Smedh, Christina, additional, Ekholm, Jenny, additional, Paunio, Tiina, additional, Kieseppä, Tuula, additional, Lichtermann, Dirk, additional, Praschak-Rieder, Nicole, additional, Neumeister, Alexander, additional, Nilsson, Lars-Göran, additional, Kasper, Siegfried, additional, Peltonen, Leena, additional, Adolfsson, Rolf, additional, Schalling, Martin, additional, and Partonen, Timo, additional

Published
2002
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23. Circadian Clock-Related Polymorphisms in Seasonal Affective Disorder and their Relevance to Diurnal Preference.

Author

Johansson, Carolina, Willeit, Matthäeus, Smedh, Christina, Ekholm, Jenny, Paunio, Tiina, Kieseppä, Tuula, Lichtermann, Dirk, Praschak-Rieder, Nicole, Neumeister, Alexander, Nilsson, Lars-Göran, Kasper, Siegfried, Peltonen, Leena, Adolfsson, Rolf, Schalling, Martin, and Partonen, Timo

Subjects
SEASONAL affective disorder, GENETIC polymorphisms, SENSITIVITY (Personality trait), GLYCINE metabolism, AFFECTIVE disorders
Abstract

Disturbed circadian rhythms have been observed in seasonal affective disorder (SAD). The aim of this study was to further investigate this connection, and to test for potential association between polymorphisms in circadian clock-related genes and SAD, seasonality (seasonal variations in mood and behavior), or diurnal preference (morningness-eveningness tendencies). A total of 159 European SAD patients and 159 matched controls were included in the genetic analysis, and subsets were screened for seasonality (n = 177) and diurnal preference (n = 92). We found that diurnal preference was associated with both SAD and seasonality, supporting the hypothesis of a link between circadian rhythms and seasonal depression. The complete case-control material was genotyped for polymorphisms in the CLOCK, Period2, Period3, and NPAS2 genes. A significant difference between patients and controls was found for NPAS2 471 Leu/Ser (χ² = 9.90, Bonferroni corrected P = 0.035), indicating a recessive effect of the leucine allele on disease susceptibility (χ² = 6.61, Bonferroni corrected P = 0.050). Period3 647 Val/Gly was associated with self-reported morningness-eveningness scores (n = 92, one-way ANOVA: F = 4.99, Bonferroni corrected P = 0.044), with higher scores found in individuals with at least one glycine allele (t = 3.1, Bonferroni corrected P = 0.013). A second, population-based sample of individuals selected for high (n = 127) or low (n = 98) degrees of seasonality, was also genotyped for NPAS2 471 Leu/Ser. There was no significant difference between these seasonality extreme groups, and none of the polymorphisms studied were associated with seasonality in the SAD case-control material (n = 177). In conclusion, our results suggest involvement of circadian clock-related polymorphisms both in susceptibility to SAD and diurnal preference. [ABSTRACT FROM AUTHOR]

Published
2003
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24. Seasonal affective disorder and the G-protein beta-3-subunit C825T polymorphism.

Author

Johansson C, Willeit M, Aron L, Smedh C, Ekholm J, Paunio T, Kieseppä T, Lichtermann D, Praschak-Rieder N, Neumeister A, Kasper S, Peltonen L, Adolfsson R, Partonen T, and Schalling M

Subjects
Alleles, Case-Control Studies, Cytosine, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Thymine, Heterotrimeric GTP-Binding Proteins genetics, Polymorphism, Single Nucleotide, Seasonal Affective Disorder genetics
Abstract

Background: Guanine nucleotide-binding proteins (G-proteins) have been implicated in affective disorders, with reports of altered signal transduction and G-protein levels. Association with seasonal affective disorder (SAD) has been found for the higher activity T-allele of the G-protein beta-3-subunit C825T polymorphism., Methods: European SAD patients (n = 159) and matched controls (n = 159) were genotyped for the C825T. Seasonality and diurnal preference were investigated in subsets of the material (n = 177 and 92, respectively)., Results: We found no association between C825T and SAD (chi(2) =.09, p =.96) or seasonality (F = 1.76, p =.18). There was some evidence for an effect on diurnal preference but only in the control group (n = 46, t = -2.8, Bonferroni corrected p =.045)., Conclusions: These results suggest that the G-protein beta-3-subunit 825 T-allele does not play a major role in susceptibility to seasonal affective disorder in the population studied.

Published
2004
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