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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/29745998/mthfr-regulatory-effects-on-methylation-of-cg05575921-in-response-to-smoking-effects-are-also-discernable-using-mthfr-expression
#1
LETTER
Steven R H Beach, Man Kit Lei, Ronald L Simons, Meeshanthini V Dogan, Frederick X Gibbons, Robert A Philibert
No abstract text is available yet for this article.
May 10, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704324/voxel-wise-brain-wide-functional-connectivity-abnormalities-in-first-episode-drug-naive-patients-with-major-depressive-disorder
#2
Xilong Cui, Feng Liu, Jindong Chen, Guangrong Xie, Renrong Wu, Zhikun Zhang, Huafu Chen, Jingping Zhao, Wenbin Guo
Due to different foci and single sample across studies, abnormal functional connectivity (FC) has been implicated in the pathophysiology of major depressive disorder (MDD) with inconsistent results. The inconsistency may reflect a combination of clinical and methodological variability, which leads to limited reproducibility of these findings. The samples included 59 patients with MDD and 31 controls from Sample 1, 29 patients with MDD and 24 controls from Sample 2, and 31 patients with schizophrenia and 37 controls from Sample 3...
April 28, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704323/machine-learning-in-schizophrenia-genomics-a-case-control-study-using-5-090-exomes
#3
Yannis J Trakadis, Sameer Sardaar, Anthony Chen, Vanessa Fulginiti, Ankur Krishnan
Our hypothesis is that machine learning (ML) analysis of whole exome sequencing (WES) data can be used to identify individuals at high risk for schizophrenia (SCZ). This study applies ML to WES data from 2,545 individuals with SCZ and 2,545 unaffected individuals, accessed via the database of genotypes and phenotypes (dbGaP). Single nucleotide variants and small insertions and deletions were annotated by ANNOVAR using the reference genome hg19/GRCh37. Rare (predicted functional) variants with a minor allele frequency ≤1% and genotype quality ≥90 including missense, frameshift, stop gain, stop loss, intronic, and exonic splicing variants were selected...
April 28, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704319/a-molecule-based-genetic-association-approach-implicates-a-range-of-voltage-gated-calcium-channels-associated-with-schizophrenia
#4
Wen Li, Chun Chieh Fan, Tuomo Mäki-Marttunen, Wesley K Thompson, Andrew J Schork, Francesco Bettella, Srdjan Djurovic, Anders M Dale, Ole A Andreassen, Yunpeng Wang
Traditional genome-wide association studies (GWAS) have successfully detected genetic variants associated with schizophrenia. However, only a small fraction of heritability can be explained. Gene-set/pathway-based methods can overcome limitations arising from single nucleotide polymorphism (SNP)-based analysis, but most of them place constraints on size which may exclude highly specific and functional sets, like macromolecules. Voltage-gated calcium (Cav ) channels, belonging to macromolecules, are composed of several subunits whose encoding genes are located far away or even on different chromosomes...
April 28, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704316/genome-wide-and-digital-polymerase-chain-reaction-epigenetic-assessments-of-alcohol-consumption
#5
Robert Philibert, Meesha Dogan, Amanda Noel, Shelly Miller, Brianna Krukow, Emma Papworth, Joseph Cowley, April Knudsen, Steven R H Beach, Donald Black
The lack of readily employable biomarkers of alcohol consumption is a problem for clinicians and researchers. In 2014, we published a preliminary DNA methylation signature of heavy alcohol consumption that remits as a function of abstinence. Herein, we present new genome-wide methylation findings from a cohort of additional subjects and a meta-analysis of the data. Using DNA from 47 consecutive heavy drinkers admitted for alcohol detoxification in the context of alcohol treatment and 47 abstinent controls, we replicate the 2014 results and show that 21,221 CpG residues are differentially methylated in active heavy drinkers...
April 28, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29704315/epigenetics-and-autism-spectrum-disorder-a-report-of-an-autism-case-with-mutation-in-h1-linker-histone-hist1h1e-and-literature-review
#6
Lara J Duffney, Purnima Valdez, Martine W Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, Yong-Hui Jiang
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1...
April 27, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29687944/association-of-copy-number-variation-across-the-genome-with-neuropsychiatric-traits-in-the-general-population
#7
Anna L Guyatt, Evie Stergiakouli, Joanna Martin, James Walters, Michael O'Donovan, Michael Owen, Anita Thapar, George Kirov, Santiago Rodriguez, Dheeraj Rai, Stan Zammit, Tom R Gaunt
Copy number variants (CNVs) are associated with psychiatric conditions in clinical populations. The relationship between rare CNV burden and neuropsychiatric traits in young, general populations is underexplored. A total of 6,807 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) were studied. CNVs were inferred from single nucleotide polymorphism-array data using PennCNV. After excluding children with known candidate CNVs for schizophrenia (SCZ), rare (<1%) CNV burden (total number of genes affected by CNVs, total length of CNVs, and largest CNV carried) was analyzed in relation to: psychotic experiences (PEs) and anxiety/depression in adolescence; autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD), ASD and ADHD traits, and cognitive measures during childhood...
April 24, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29671935/a-data-driven-investigation-of-relationships-between-bipolar-psychotic-symptoms-and-schizophrenia-genome-wide-significant-genetic-loci
#8
Ganna Leonenko, Arianna Di Florio, Judith Allardyce, Liz Forty, Sarah Knott, Lisa Jones, Katherine Gordon-Smith, Michael J Owen, Ian Jones, James Walters, Nick Craddock, Michael C O'Donovan, Valentina Escott-Price
The etiologies of bipolar disorder (BD) and schizophrenia include a large number of common risk alleles, many of which are shared across the disorders. BD is clinically heterogeneous and it has been postulated that the pattern of symptoms is in part determined by the particular risk alleles carried, and in particular, that risk alleles also confer liability to schizophrenia influence psychotic symptoms in those with BD. To investigate links between psychotic symptoms in BD and schizophrenia risk alleles we employed a data-driven approach in a genotyped and deeply phenotyped sample of subjects with BD...
April 19, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29659143/rasopathies-are-associated-with-a-distinct-personality-profile
#9
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls...
April 16, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29637745/rubinstein-taybi-syndrome-new-neuroradiological-and-neuropsychiatric-insights-from-a-multidisciplinary-approach
#10
Paola F Ajmone, Sabrina Avignone, Cristina Gervasini, Antonella Giacobbe, Fedrico Monti, Antonella Costantino, Susanna Esposito, Paola Marchisio, Fabio Triulzi, Donatella Milani
Rubinstein-Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate of approximately 65-70%; specifically, microdeletions or mutations in the CREBBP or EP300 genes can be found. Much is known about its clinical features and health-care protocols, but some areas of clinical knowledge are currently unsolved...
April 10, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29633502/evidence-for-additionally-increased-apoptosis-in-the-peripheral-blood-mononuclear-cells-of-major-depressive-patients-with-a-high-risk-for-suicide
#11
Meysam Amidfar, Yong-Ku Kim, Giselli Scaini, João Quevedo
Several studies have suggested a pathophysiological role of blood cell apoptosis in major depressive disorder (MDD). The aim of this study was to evaluate mRNA expression levels of Bcl-2, Bax, and Fas in peripheral blood mononuclear cells (PBMCs) of MDD patients with a high risk for suicide relative to those without a high risk for suicide as well as healthy subjects. The mRNA expression of Bcl-2, Bax, and Fas as well as the Bcl-2/Bax ratio was examined in the PBMCs of 30 MDD patients with a high risk for suicide, 30 MDD patients without a high risk for suicide, and 30 healthy controls...
April 10, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29633550/preventing-discrimination-based-on-psychiatric-risk-biomarkers
#12
REVIEW
Cody Brannan, Alexandra L Foulkes, Gabriel Lázaro-Muñoz
Recent studies have identified genomic and nongenomic psychiatric risk biomarkers (PRBs; e.g., genomic variants, blood analytes, gray matter volume). PRBs may soon become a powerful tool for improving psychiatric care and prevention. PRB research and its translation to clinical care, however, may prove to be a double-edged sword. Mental health stigma and discrimination are already widespread, and data caution that biological explanations of psychiatric disorders can exacerbate these stigmatizing attitudes, increasing the desire for social distance and heightening the perceived dangerousness of the patient...
April 6, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29633506/tumor-necrosis-factor-alpha-1031t-c-polymorphism-is-associated-with-cognitive-deficits-in-chronic-schizophrenia-patients-versus-healthy-controls
#13
Mei Hong Xiu, Li-Juan Man, Dong Wang, Xiangdong Du, Guangzhou Yin, Yingyang Zhang, Yun Long Tan, Nan Chen, Song Chen, Antonio L Teixeira, Ryan M Cassidy, Jair C Soares, Xiang Yang Zhang
Recent compelling research has demonstrated a pathophysiologic role for proinflammatory cytokines of microglial origin in decreasing neurocognitive function. Psychiatric diseases are already known to have reduced cognitive function and are also associated with increased inflammation. To elaborate on these data, our study aims to investigate how a particular polymorphism of the tumor necrosis factor gene, TNF-α -1031T/C, affects neurocognitive performance in patients with schizophrenia. We recruited 905 patients with schizophrenia and 571 healthy control subjects...
April 6, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29603867/delineating-the-psychiatric-and-behavioral-phenotype-of-recurrent-2q13-deletions-and-duplications
#14
Kate Wolfe, Andrew McQuillin, Viola Alesi, Elise Boudry Labis, Peter Cutajar, Bruno Dallapiccola, Maria Lisa Dentici, Anne Dieux-Coeslier, Benedicte Duban-Bedu, Tina Duelund Hjortshøj, Himanshu Goel, Sara Loddo, Deborah Morrogh, Anne-Laure Mosca-Boidron, Antonio Novelli, Laurence Olivier-Faivre, Jennifer Parker, Michael J Parker, Christine Patch, Anna L Pelling, Thomas Smol, Zeynep Tümer, Olivier Vanakker, Arie van Haeringen, Clémence Vanlerberghe, Andre Strydom, David Skuse, Nick Bass
Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database...
March 31, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29603866/genome-wide-analysis-of-adolescent-psychotic-like-experiences-shows-genetic-overlap-with-psychiatric-disorders
#15
Oliver Pain, Frank Dudbridge, Alastair G Cardno, Daniel Freeman, Yi Lu, Sebastian Lundstrom, Paul Lichtenstein, Angelica Ronald
This study aimed to test for overlap in genetic influences between psychotic-like experience traits shown by adolescents in the community, and clinically-recognized psychiatric disorders in adulthood, specifically schizophrenia, bipolar disorder, and major depression. The full spectra of psychotic-like experience domains, both in terms of their severity and type (positive, cognitive, and negative), were assessed using self- and parent-ratings in three European community samples aged 15-19 years (Final N incl...
March 31, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29533536/mutation-spectra-and-founder-effect-of-tmc1-in-patients-with-non-syndromic-deafness-in-xiamen-area-china
#16
Yi Jiang, Song Gao, Lihua Wu, Xiaohua Jin, Tao Deng, Ligang Wang, Shasha Huang, Xue Gao, Juan Chen, Dongyi Han, Huafang Gao, Pu Dai
To analyze the spectrum and founder effect of TMC1 mutations in patients with non-syndromic deafness in the Xiamen area. Sporadic pedigrees were detected by targeted next-generation sequencing, and 110 unrelated patients from Xiamen Special Education School were analyzed through Sanger sequencing for the TMC1 gene. In total, 53 SNPs were designed to analyze the haplotypes of the TMC1 c.2050G>C mutation. The probands of three families were found to be homozygous for TMC1 c.2050G>C, and their parents were all heterozygous for the TMC1 c...
April 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29460498/the-molecular-epidemiology-of-huntington-disease-is-related-to-intermediate-allele-frequency-and-haplotype-in-the-general-population
#17
Chris Kay, Jennifer A Collins, Galen E B Wright, Fiona Baine, Zosia Miedzybrodzka, Folefac Aminkeng, Alicia J Semaka, Cassandra McDonald, Mark Davidson, Steven J Madore, Erynn S Gordon, Norman P Gerry, Mario Cornejo-Olivas, Ferdinando Squitieri, Sarah Tishkoff, Jacquie L Greenberg, Amanda Krause, Michael R Hayden
Huntington disease (HD) is the most common monogenic neurodegenerative disorder in populations of European ancestry, but occurs at lower prevalence in populations of East Asian or black African descent. New mutations for HD result from CAG repeat expansions of intermediate alleles (IAs), usually of paternal origin. The differing prevalence of HD may be related to the rate of new mutations in a population, but no comparative estimates of IA frequency or the HD new mutation rate are available. In this study, we characterize IA frequency and the CAG repeat distribution in fifteen populations of diverse ethnic origin...
April 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29418072/effects-of-mir-137-genetic-risk-score-on-brain-volume-and-cortical-measures-in-patients-with-schizophrenia-and-controls
#18
Donna Cosgrove, David O Mothersill, Laura Whitton, Denise Harold, Sinead Kelly, Laurena Holleran, Jessica Holland, Richard Anney, Alex Richards, Kiran Mantripragada, Michael Owen, Michael C O'Donovan, Michael Gill, Aiden Corvin, Derek W Morris, Gary Donohoe
Multiple genome-wide association studies of schizophrenia have implicated genetic variants within the gene encoding microRNA-137. As risk variants within or regulated by MIR137 have been implicated in memory performance, we investigated the additive effects of schizophrenia-associated risk variants in genes empirically regulated by MIR137 on brain regions associated with memory function. A polygenic risk score (PRS) was calculated (at a p = 0.05 threshold), using this empirically regulated MIR137 gene set, to investigate associations between this PRS and structural brain measures...
April 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29399949/adaptive-behavior-in-infants-and-toddlers-with-down-syndrome-and-fragile-x-syndrome
#19
Elizabeth A Will, Kelly E Caravella, Laura J Hahn, Deborah J Fidler, Jane E Roberts
Individuals with Down syndrome (DS) experience deficits across all domains of adaptive functioning, however little is known about the emergence and age-related changes of these impairments compared to other neurogenetic disorders with similar intellectual disability impairments, such as fragile X syndrome (FXS). Adaptive behavior is key for optimal functioning in these populations. Participants aged 5-45 months comprised three age-matched groups, DS (n = 64), FXS (n = 69), and typically developing controls (TD; n = 69)...
April 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29250928/longitudinal-interplays-of-estrogen-receptor-alpha-gene-rs9340799-with-social-environmental-factors-on-post-traumatic-stress-disorder-in-chinese-han-adolescents-after-wenchuan-earthquake
#20
Yue Feng, Mi Su, Yan Jun Si, Qi Wei Guo, Jia Lin, Ting Cao, Xin Zhang, Mei Fan, Ding Zhi Fang
Indirect evidences suggested associations of estrogen receptor alpha (ESR1) with post-traumatic stress disorder (PTSD). However, the relationship between rs9340799 on ESR1 gene and PTSD has not been reported yet. The present study was to explore the longitudinal changes of prevalence and severity of PTSD in adolescents with different genotypes of rs9340799 after the 2008 Wenchuan earthquake. Social-environmental factors were collected by questionnaires in 465 high school students. Variants of rs9340799 were determined by polymerase chain reaction-restriction fragment length polymorphism analyses and verified by DNA sequencing...
April 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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