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description Publicationkeyboard_double_arrow_right Article 2019 Canada, France, France, United Kingdom, France, France, FranceAmerican Medical Association (AMA) EC | MATRICS, UKRI | JPND BRain Imaging, cogni..., EC | EU-AIMS +7 projectsEC| MATRICS ,UKRI| JPND BRain Imaging, cognition, Dementia and next generation GEnomics ,EC| EU-AIMS ,SFI| The Neurobiology of Voluntary Nicotine Abstinence: Genetics, Environment and Neurocognitive Endophenotypes ,EC| STRATIFY ,ANR| ADODEP ,EC| HBP SGA1 ,EC| IMAGEMEND ,CIHR ,UKRI| Consortium on Vulnerability to Externalizing Disorders and Addictions [c-VEDA]Qiang Luo; Qiang Chen; Wenjia Wang; Sylvane Desrivières; Erin Burke Quinlan; Tianye Jia; Christine Macare; Gabriel Robert; Jing Cui; Mickaël Guedj; Lena Palaniyappan; Ferath Kherif; Tobias Banaschewski; Arun L.W. Bokde; Christian Büchel; Herta Flor; Vincent Frouin; Hugh Garavan; Penny A. Gowland; Andreas Heinz; Bernd Ittermann; Jean-Luc Martinot; Eric Artiges; Marie Laure Paillère-Martinot; Frauke Nees; Dimitri Papadopoulos Orfanos; Luise Poustka; Juliane H. Fröhner; Michael N. Smolka; Henrik Walter; Robert Whelan; Joseph H. Callicott; Venkata S. Mattay; Zdenka Pausova; Jean-François Dartigues; Christophe Tzourio; Fabrice Crivello; Karen F. Berman; Fei Li; Tomáš Paus; Daniel R. Weinberger; Robin M. Murray; Gunter Schumann; Jianfeng Feng;Importance: Deviation from normal adolescent brain development precedes manifestations of many major psychiatric symptoms. Such altered developmental trajectories in adolescents may be linked to genetic risk for psychopathology. Objective: To identify genetic variants associated with adolescent brain structure and explore psychopathologic relevance of such associations. Design, Setting, and Participants: Voxelwise genome-wide association study in a cohort of healthy adolescents aged 14 years and validation of the findings using 4 independent samples across the life span with allele-specific expression analysis of top hits. Group comparison of the identified gene-brain association among patients with schizophrenia, unaffected siblings, and healthy control individuals. This was a population-based, multicenter study combined with a clinical sample that included participants from the IMAGEN cohort, Saguenay Youth Study, Three-City Study, and Lieber Institute for Brain Development sample cohorts and UK biobank who were assessed for both brain imaging and genetic sequencing. Clinical samples included patients with schizophrenia and unaffected siblings of patients from the Lieber Institute for Brain Development study. Data were analyzed between October 2015 and April 2018. Main Outcomes and Measures: Gray matter volume was assessed by neuroimaging and genetic variants were genotyped by Illumina BeadChip. Results: The discovery sample included 1721 adolescents (873 girls [50.7%]), with a mean (SD) age of 14.44 (0.41) years. The replication samples consisted of 8690 healthy adults (4497 women [51.8%]) from 4 independent studies across the life span. A nonsynonymous genetic variant (minor T allele of rs13107325 in SLC39A8, a gene implicated in schizophrenia) was associated with greater gray matter volume of the putamen (variance explained of 4.21% in the left hemisphere; 8.66; 95% CI, 6.59-10.81; P = 5.35 × 10-18; and 4.44% in the right hemisphere; t = 8.90; 95% CI, 6.75-11.19; P = 6.80 × 10-19) and also with a lower gene expression of SLC39A8 specifically in the putamen (t127 = -3.87; P = 1.70 × 10-4). The identified association was validated in samples across the life span but was significantly weakened in both patients with schizophrenia (z = -3.05; P =.002; n = 157) and unaffected siblings (z = -2.08; P =.04; n = 149). Conclusions and Relevance: Our results show that a missense mutation in gene SLC39A8 is associated with larger gray matter volume in the putamen and that this association is significantly weakened in schizophrenia. These results may suggest a role for aberrant ion transport in the etiology of psychosis and provide a target for preemptive developmental interventions aimed at restoring the functional effect of this mutation..
King's Research Port... arrow_drop_down Serveur académique lausannoisArticle . 2019License: CC BYData sources: Serveur académique lausannoisadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1001/jamapsychiatry.2018.4126&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu44 citations 44 popularity Top 10% influence Average impulse Top 1% Powered by BIP!visibility 34visibility views 34 download downloads 62 Powered bymore_vert King's Research Port... arrow_drop_down Serveur académique lausannoisArticle . 2019License: CC BYData sources: Serveur académique lausannoisadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1001/jamapsychiatry.2018.4126&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2020 CanadaElsevier BV NIH | Investigating a novel cel..., NIH | MOUSE GENETICS, SFI | FutureNeuro +2 projectsNIH| Investigating a novel cell population in delayed-onset drug hypersensitivity reactions ,NIH| MOUSE GENETICS ,SFI| FutureNeuro ,CIHR ,NIH| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis 2019: From Science to TranslationWan-Chun Chang; Riichiro Abe; Paul Anderson; Wanpen Anderson; Michael R. Ardern-Jones; Thomas M. Beachkofsky; Teresa Bellón; Agnieszka K. Biala; Charles S. Bouchard; Gianpiero L. Cavalleri; Nicole Chapman; James Chodosh; Hyon K. Choi; Ricardo Cibotti; Sherrie J. Divito; Karen Dewar; Ulrike Dehaeck; Mahyar Etminan; Diane Forbes; Esther Fuchs; Jennifer L. Goldman; James H. Holmes; Elyse A. Hope; Shuen-Iu Hung; Chia Ling Hsieh; Alfonso Iovieno; Julienne Jagdeo; Mee Kum Kim; David M. Koelle; Mario E. Lacouture; Sophie Le Pallec; Rannakoe J. Lehloenya; Robyn Lim; Angie Lowe; Jean McCawley; Julie McCawley; Robert G. Micheletti; Maja Mockenhaupt; Katie Niemeyer; Michael A. Norcross; Douglas Oboh; Cristina Olteanu; Helena B. Pasieka; Jonathan Peter; Munir Pirmohamed; Michael J. Rieder; Hajirah N. Saeed; Neil H. Shear; Christine Shieh; Sabine Straus; Chonlaphat Sukasem; Cynthia Sung; Jason A Trubiano; Sheng Ying Tsou; Mayumi Ueta; Simona Volpi; Chen Wan; Hongsheng Wang; Zhao Qing Wang; Jessica Weintraub; Cindy Whale; Lisa M. Wheatley; Sonia Whyte-Croasdaile; Kristina B. Williams; Galen E.B. Wright; Sonia N. Yeung; Li Zhou; Wen-Hung Chung; Elizabeth J. Phillips; Bruce Carleton;Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are potentially life-threatening, immune-mediated adverse reactions characterized by widespread erythema, epidermal necrosis, and detachment of skin and mucosa. Efforts to grow and develop functional international collaborations and a multidisciplinary interactive network focusing on SJS/TEN as an uncommon but high burden disease will be necessary to improve efforts in prevention, early diagnosis and improved acute and long-term management. SJS/TEN 2019: From Science to Translation was a 1.5-day scientific program held April 26-27, 2019, in Vancouver, Canada. The meeting successfully engaged clinicians, researchers, and patients and conducted many productive discussions on research and patient care needs.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.jdermsci.2020.02.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu43 citations 43 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 9visibility views 9 download downloads 18 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.jdermsci.2020.02.003&type=result"></script>'); --> </script>
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description Publicationkeyboard_double_arrow_right Article 2019 Canada, France, France, United Kingdom, France, France, FranceAmerican Medical Association (AMA) EC | MATRICS, UKRI | JPND BRain Imaging, cogni..., EC | EU-AIMS +7 projectsEC| MATRICS ,UKRI| JPND BRain Imaging, cognition, Dementia and next generation GEnomics ,EC| EU-AIMS ,SFI| The Neurobiology of Voluntary Nicotine Abstinence: Genetics, Environment and Neurocognitive Endophenotypes ,EC| STRATIFY ,ANR| ADODEP ,EC| HBP SGA1 ,EC| IMAGEMEND ,CIHR ,UKRI| Consortium on Vulnerability to Externalizing Disorders and Addictions [c-VEDA]Qiang Luo; Qiang Chen; Wenjia Wang; Sylvane Desrivières; Erin Burke Quinlan; Tianye Jia; Christine Macare; Gabriel Robert; Jing Cui; Mickaël Guedj; Lena Palaniyappan; Ferath Kherif; Tobias Banaschewski; Arun L.W. Bokde; Christian Büchel; Herta Flor; Vincent Frouin; Hugh Garavan; Penny A. Gowland; Andreas Heinz; Bernd Ittermann; Jean-Luc Martinot; Eric Artiges; Marie Laure Paillère-Martinot; Frauke Nees; Dimitri Papadopoulos Orfanos; Luise Poustka; Juliane H. Fröhner; Michael N. Smolka; Henrik Walter; Robert Whelan; Joseph H. Callicott; Venkata S. Mattay; Zdenka Pausova; Jean-François Dartigues; Christophe Tzourio; Fabrice Crivello; Karen F. Berman; Fei Li; Tomáš Paus; Daniel R. Weinberger; Robin M. Murray; Gunter Schumann; Jianfeng Feng;Importance: Deviation from normal adolescent brain development precedes manifestations of many major psychiatric symptoms. Such altered developmental trajectories in adolescents may be linked to genetic risk for psychopathology. Objective: To identify genetic variants associated with adolescent brain structure and explore psychopathologic relevance of such associations. Design, Setting, and Participants: Voxelwise genome-wide association study in a cohort of healthy adolescents aged 14 years and validation of the findings using 4 independent samples across the life span with allele-specific expression analysis of top hits. Group comparison of the identified gene-brain association among patients with schizophrenia, unaffected siblings, and healthy control individuals. This was a population-based, multicenter study combined with a clinical sample that included participants from the IMAGEN cohort, Saguenay Youth Study, Three-City Study, and Lieber Institute for Brain Development sample cohorts and UK biobank who were assessed for both brain imaging and genetic sequencing. Clinical samples included patients with schizophrenia and unaffected siblings of patients from the Lieber Institute for Brain Development study. Data were analyzed between October 2015 and April 2018. Main Outcomes and Measures: Gray matter volume was assessed by neuroimaging and genetic variants were genotyped by Illumina BeadChip. Results: The discovery sample included 1721 adolescents (873 girls [50.7%]), with a mean (SD) age of 14.44 (0.41) years. The replication samples consisted of 8690 healthy adults (4497 women [51.8%]) from 4 independent studies across the life span. A nonsynonymous genetic variant (minor T allele of rs13107325 in SLC39A8, a gene implicated in schizophrenia) was associated with greater gray matter volume of the putamen (variance explained of 4.21% in the left hemisphere; 8.66; 95% CI, 6.59-10.81; P = 5.35 × 10-18; and 4.44% in the right hemisphere; t = 8.90; 95% CI, 6.75-11.19; P = 6.80 × 10-19) and also with a lower gene expression of SLC39A8 specifically in the putamen (t127 = -3.87; P = 1.70 × 10-4). The identified association was validated in samples across the life span but was significantly weakened in both patients with schizophrenia (z = -3.05; P =.002; n = 157) and unaffected siblings (z = -2.08; P =.04; n = 149). Conclusions and Relevance: Our results show that a missense mutation in gene SLC39A8 is associated with larger gray matter volume in the putamen and that this association is significantly weakened in schizophrenia. These results may suggest a role for aberrant ion transport in the etiology of psychosis and provide a target for preemptive developmental interventions aimed at restoring the functional effect of this mutation..
King's Research Port... arrow_drop_down Serveur académique lausannoisArticle . 2019License: CC BYData sources: Serveur académique lausannoisadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1001/jamapsychiatry.2018.4126&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu44 citations 44 popularity Top 10% influence Average impulse Top 1% Powered by BIP!visibility 34visibility views 34 download downloads 62 Powered bymore_vert King's Research Port... arrow_drop_down Serveur académique lausannoisArticle . 2019License: CC BYData sources: Serveur académique lausannoisadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1001/jamapsychiatry.2018.4126&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2020 CanadaElsevier BV NIH | Investigating a novel cel..., NIH | MOUSE GENETICS, SFI | FutureNeuro +2 projectsNIH| Investigating a novel cell population in delayed-onset drug hypersensitivity reactions ,NIH| MOUSE GENETICS ,SFI| FutureNeuro ,CIHR ,NIH| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis 2019: From Science to TranslationWan-Chun Chang; Riichiro Abe; Paul Anderson; Wanpen Anderson; Michael R. Ardern-Jones; Thomas M. Beachkofsky; Teresa Bellón; Agnieszka K. Biala; Charles S. Bouchard; Gianpiero L. Cavalleri; Nicole Chapman; James Chodosh; Hyon K. Choi; Ricardo Cibotti; Sherrie J. Divito; Karen Dewar; Ulrike Dehaeck; Mahyar Etminan; Diane Forbes; Esther Fuchs; Jennifer L. Goldman; James H. Holmes; Elyse A. Hope; Shuen-Iu Hung; Chia Ling Hsieh; Alfonso Iovieno; Julienne Jagdeo; Mee Kum Kim; David M. Koelle; Mario E. Lacouture; Sophie Le Pallec; Rannakoe J. Lehloenya; Robyn Lim; Angie Lowe; Jean McCawley; Julie McCawley; Robert G. Micheletti; Maja Mockenhaupt; Katie Niemeyer; Michael A. Norcross; Douglas Oboh; Cristina Olteanu; Helena B. Pasieka; Jonathan Peter; Munir Pirmohamed; Michael J. Rieder; Hajirah N. Saeed; Neil H. Shear; Christine Shieh; Sabine Straus; Chonlaphat Sukasem; Cynthia Sung; Jason A Trubiano; Sheng Ying Tsou; Mayumi Ueta; Simona Volpi; Chen Wan; Hongsheng Wang; Zhao Qing Wang; Jessica Weintraub; Cindy Whale; Lisa M. Wheatley; Sonia Whyte-Croasdaile; Kristina B. Williams; Galen E.B. Wright; Sonia N. Yeung; Li Zhou; Wen-Hung Chung; Elizabeth J. Phillips; Bruce Carleton;Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are potentially life-threatening, immune-mediated adverse reactions characterized by widespread erythema, epidermal necrosis, and detachment of skin and mucosa. Efforts to grow and develop functional international collaborations and a multidisciplinary interactive network focusing on SJS/TEN as an uncommon but high burden disease will be necessary to improve efforts in prevention, early diagnosis and improved acute and long-term management. SJS/TEN 2019: From Science to Translation was a 1.5-day scientific program held April 26-27, 2019, in Vancouver, Canada. The meeting successfully engaged clinicians, researchers, and patients and conducted many productive discussions on research and patient care needs.
add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.jdermsci.2020.02.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu43 citations 43 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 9visibility views 9 download downloads 18 Powered bymore_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.jdermsci.2020.02.003&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu