American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.eHealth provides a novel opportunity to exploit the advantages of the Nordic countries in psychiatric genetic research, building on the public health care system, biobanks, and registries
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Source Type: research
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Ahead of Print. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Source Type: research
National ‐scale precision medicine for psychiatric disorders in Sweden
Since psychiatric disorders have genetic architectures dominated by common variants of small effects, successful elucidation in psychiatric genetics necessitates large sample sizes. Collaboration and unconventional ascertainment methods are required to fulfill this need. Electronic health records have been increasingly seen as holding great potential for research, although they often pose substantial technical, legal and ethical challenges. Universal health care and national‐scale registers with comprehensive medical, developmental, demographic, and geographic information make the Nordic countries ideal for psychiatric g...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Authors: Sarah E. Bergen, Patrick F. Sullivan Tags: REVIEW ARTICLE Source Type: research
eHealth provides a novel opportunity to exploit the advantages of the Nordic countries in psychiatric genetic research, building on the public health care system, biobanks, and registries
Nordic countries have played an important role in the recent progress in psychiatric genetics, both with large well–characterized samples and expertise. The Nordic countries have research advantages due to the organization of their societies, including system of personal identifiers, national health registries with information about diseases, treatment and prescriptions, and a public health system with geographical catchment areas. For psychiatric genetic research, the large biobanks and population surveys are a unique added value. Further, the population is motivated to participate in research, and there is a trust in t...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Authors: Ole A. Andreassen Tags: REVIEW ARTICLE Source Type: research
Single ‐nucleotide polymorphisms in genes related to the hypothalamic‐pituitary‐adrenal axis as risk factors for posttraumatic stress disorder
This article reviews molecular genetic studies related to PTSD collected through a literature search performed in PubMed, MEDLINE, ScienceDirect, and Scientific Electronic Library Online (SciELO). The results of these studies suggest that several polymorphisms in the HPA axis genes, including FKBP5, NR3C1, CRHR1, and CRHR2, may be risk factors for PTSD development or may be associated with the severity of PTSD symptoms. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 7, 2017 Category: Genetics & Stem Cells Authors: Carolina M. Carvalho, Bruno M. Coimbra, Vanessa K. Ota, Marcelo F. Mello, Sintia I. Belangero Tags: REVIEW ARTICLE Source Type: research
Role of 108 schizophrenia ‐associated loci in modulating psychopathological dimensions in schizophrenia and bipolar disorder
This study investigated which symptom dimensions may be affected by these loci in schizophrenia, and bipolar disorder. Positive, negative and depressive symptoms, suicidal ideation, cognition, violent behaviors, quality of life, and early onset were investigated in schizophrenia and bipolar disorder using the clinical antipsychotic trials of intervention effectiveness (CATIE) and systematic treatment enhancement program for bipolar disorder (STEP‐BD) studies. Individual loci were investigated, then genes within 50 Kbp from polymorphisms with p < 0.10 were included in an enrichment analysis (Cytoscape GeneMania p...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Chiara Fabbri, Alessandro Serretti Tags: RESEARCH ARTICLE Source Type: research
The regulation of tetraspanin 8 gene expression —A potential new mechanism in the pathogenesis of bipolar disorder
In a previous study, we identified the single nucleotide polymorphism (SNP) rs4500567, located in the upstream region of tetraspanin 8 (TSPAN8), to be associated with bipolar disorder (BD). Due to its proximal position, the SNP might have an impact on promoter activity, thus on TSPAN8 gene expression. We investigated the impact of rs4500567 on TSPAN8 expression in vitro with luciferase‐based promoter assays in human embryonic kidney (HEK293) and neuroblastoma cells (SH‐SY5Y), and its effect on expression of downstream associated genes by microarray‐based transcriptome analyses. Immunohistochemical localization studie...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Christoph Schartner, Claus ‐Jürgen Scholz, Heike Weber, Antonia Post, Florian Freudenberg, Lena Grünewald, Andreas Reif Tags: RESEARCH ARTICLE Source Type: research
Posterior column ataxia with retinitis pigmentosa coexisting with sensory ‐autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation
We report the unique case of a 33‐year‐old Italian woman with a combination of typical PCARP, sensory‐autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p.Pro221Ser variation. The same variation, in combination with a frameshift mutation, was previously identified in an Italian child with HSAN. Functional studies carried out on patient‐derived lymphoblastoid cell lines showed decreased FLVCR1a transcript, increased reactive oxygen species, excessive intracellula...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando Tags: RESEARCH ARTICLE Source Type: research
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in schizophrenia to date, using samples from the United Kingdom and Sweden (10,011 schizophrenia cases and 13,791 controls). Single variants, genes, and gene sets were analyzed for association with schizophrenia. No si...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Ganna Leonenko, Alexander L. Richards, James T. Walters, Andrew Pocklington, Kimberly Chambert, Mariam M. Al Eissa, Sally I. Sharp, Niamh L. O'Brien, David Curtis, Nicholas J. Bass, Andrew McQuillin, Christina Hultman, Jennifer L. Moran, Steven A. McCarro Tags: RESEARCH ARTICLE Source Type: research
The epigenomics of schizophrenia, in the mouse
Large‐scale consortia including the Psychiatric Genomics Consortium, the Common Minds Consortium, BrainSeq and PsychENCODE, and many other studies taken together provide increasingly detailed insights into the genetic and epigenetic risk architectures of schizophrenia (SCZ) and offer vast amounts of molecular information, but with largely unexplored therapeutic potential. Here we discuss how epigenomic studies in human brain could guide animal work to test the impact of disease‐associated alterations in chromatin structure and function on cognition and behavior. For example, transcription factors such as MYOCYTE‐SPEC...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Behnam Javidfar, Royce Park, Bibi S. Kassim, Lucy K. Bicks, Schahram Akbarian Tags: REVIEW ARTICLE Source Type: research
Optimizing the chances of success in the search for epigenetic biomarkers: Embracing genetic variation
The emphasis on clinical translation in biomedical research continues to grow. This focus has been particularly notable in those investigators using epigenetic approaches to decipher the biology of complex behavioral disorders. As a result of these efforts, reproducible findings for several disorders, such as smoking, have been generated, giving rise to hopes that biomarkers for other behavioral illnesses would be forthcoming. Unfortunately, that biomedical cornucopia has not yet materialized. In this editorial, we review progress to date and discuss barriers to generating epigenetic biomarkers for complex behavioral disor...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Robert Philibert, Stephen J. Glatt Tags: REVIEW ARTICLE Source Type: research
Microbiome, inflammation, epigenetic alterations, and mental diseases
Major mental diseases such as autism, bipolar disorder, schizophrenia, and major depressive disorder are debilitating illnesses with complex etiologies. Recent findings show that the onset and development of these illnesses cannot be well described by the one‐gene; one‐disease approach. Instead, their clinical presentation is thought to result from the regulative interplay of a large number of genes. Even though the involvement of many genes are likely, up regulating and activation or down regulation and silencing of these genes by the environmental factors play a crucial role in contributing to their pathogenesis. Muc...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Reza Alam, Hamid M. Abdolmaleky, Jin ‐Rong Zhou Tags: REVIEW ARTICLE Source Type: research
Genetically contextual effects of smoking on genome wide DNA methylation
Smoking is the leading cause of death in the United States. It exerts its effects by increasing susceptibility to a variety of complex disorders among those who smoke, and if pregnant, to their unborn children. In prior efforts to understand the epigenetic mechanisms through which this increased vulnerability is conveyed, a number of investigators have conducted genome wide methylation analyses. Unfortunately, secondary to methodological limitations, these studies were unable to examine methylation in gene regions with significant amounts of genetic variation. Using genome wide genetic and epigenetic data from the Framingh...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - July 1, 2017 Category: Genetics & Stem Cells Authors: Meeshanthini V. Dogan, Steven R. H. Beach, Robert A. Philibert Tags: RESEARCH ARTICLE Source Type: research
Imaging genetics in neurodevelopmental psychopathology
Neurodevelopmental disorders are defined by highly heritable problems during development and brain growth. Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), and intellectual disability (ID) are frequent neurodevelopmental disorders, with common comorbidity among them. Imaging genetics studies on the role of disease‐linked genetic variants on brain structure and function have been performed to unravel the etiology of these disorders. Here, we reviewed imaging genetics literature on these disorders attempting to understand the mechanisms of individual disorders and their clinical overlap....
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - June 15, 2017 Category: Genetics & Stem Cells Authors: Marieke Klein, Marjolein van Donkelaar, Ellen Verhoef, Barbara Franke Tags: REVIEW ARTICLE Source Type: research
