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https://www.readbyqxmd.com/read/28798405/progress-in-genome-wide-association-studies-of-schizophrenia-in-han-chinese-populations
#1
REVIEW
Weihua Yue, Xin Yu, Dai Zhang
Since 2006, genome-wide association studies of schizophrenia have led to the identification of numerous novel risk loci for this disease. However, there remains a geographical imbalance in genome-wide association studies, which to date have primarily focused on Western populations. During the last 6 years, genome-wide association studies in Han Chinese populations have identified both the sharing of susceptible loci across ethnicities and genes unique to Han Chinese populations. Here, we review recent progress in genome-wide association studies of schizophrenia in Han Chinese populations...
August 10, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28753255/comprehensive-analysis-of-two-shank3-and-the-cacna1c-mouse-models-of-autism-spectrum-disorder
#2
Patricia Kabitzke, Daniela Brunner, Dansha He, Pamela A Fazio, Kimberly Cox, Jane Sutphen, Lucinda Thiede, Emily Sabath, Taleen Hanania, Vadim Alexandrov, Randall Rasmusson, Will Spooren, Anirvan Ghosh, Pamela Feliciano, Barbara Biemans, Marta Benedetti, Alice Luo Clayton
To expand, analyze, and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3(tm2Gfng) model, hereafter Shank3/F, Jiang's Shank3(tm1Yhj) model, hereafter Shank3/J, and the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. The current study utilizes both standard and novel behavioral tests with the same methodology used in our previously published companion report on the Cntnap2 null and 16p11...
July 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28664753/atypical-cyanotic-breath-holding-spells-in-an-infant-with-16p11-2-microdeletion-syndrome
#3
Jayalakshmi Bhat, Jose Martinez, Paul Maertens
No abstract text is available yet for this article.
June 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28605459/copy-number-variants-are-enriched-in-individuals-with-early-onset-obesity-and-highlight-novel-pathogenic-pathways
#4
Maria Pettersson, Heli Viljakainen, Petra Loid, Taina Mustila, Minna Pekkinen, Miriam Armenio, Johanna C Andersson-Assarsson, Outi Mäkitie, Anna Lindstrand
Context: Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and nonsyndromic (16p11.2 deletions) obesity. Objective: To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue. Design and Setting: A case-control study in a tertiary academic center...
August 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28591836/focal-cortical-anomalies-and-language-impairment-in-16p11-2-deletion-and-duplication-syndrome
#5
Karen Blackmon, Thomas Thesen, Sophie Green, Emma Ben-Avi, Xiuyuan Wang, Benjamin Fuchs, Ruben Kuzniecky, Orrin Devinsky
Individuals with copy number variants (CNV) in the 16p11.2 chromosomal region are at high risk for language disorders. We investigate whether the extent and location of focal cortical anomalies are associated with language impairment in individuals with 16p11.2 CNVs. High-resolution T1-weighted MRI scans from 30 16p11.2 deletion (16p-del), 25 16p11.2 duplication (16p-dup), and 90 noncarrier controls (NCC) were analyzed to derive personalized cortical anomaly maps through single-case cortical thickness (CT) comparison to age-matched normative samples...
June 7, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28584888/autism-spectrum-disorder-neuropathology-and-animal-models
#6
REVIEW
Merina Varghese, Neha Keshav, Sarah Jacot-Descombes, Tahia Warda, Bridget Wicinski, Dara L Dickstein, Hala Harony-Nicolas, Silvia De Rubeis, Elodie Drapeau, Joseph D Buxbaum, Patrick R Hof
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. An increase in the incidence of ASD cases has prompted a surge in research efforts on the underlying neuropathologic processes. We present an overview of current findings in neuropathology studies of ASD using two investigational approaches, postmortem human brains and ASD animal models, and discuss the overlap, limitations, and significance of each...
June 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28573975/benign-infantile-seizures-followed-by-autistic-regression-in-a-boy-with-16p11-2-deletion
#7
Roberta Milone, Angelo Valetto, Veronica Bertini, Federico Sicca
Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11...
June 2, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#8
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28532165/16p11-2-microduplication-and-associated-symptoms-a-case-study
#9
Martin Knoll, Kirsten Arnett, Jeremy Hertza
The minimal amount known regarding chromosomal microduplications and microdeletions presents a fascinating new direction of research into better understanding misunderstood symptoms and overall genomic influence. Specifically, the 16p11.2 microduplication has been associated with a myriad of possible cognitive, physical, and emotional symptoms. The purpose of this study is to inform the reader of the biological basis of the 16p11.2 microduplication, review sources that suggest a link between the microduplication and clinically relevant diagnoses/sources of impairment, and to better understand the implications and development of symptoms through the illustration of a case example...
May 22, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28488576/high-number-of-chromosomal-copy-number-aberrations-inversely-relates-to-t-11-19-q21-p13-translocation-status-in-mucoepidermoid-carcinoma-of-the-salivary-glands
#10
Johannes H Matse, Enno C I Veerman, Jan G M Bolscher, C René Leemans, Bauke Ylstra, Elisabeth Bloemena
Although rare, mucoepidermoid carcinoma (MEC) is one of the most common malignant salivary gland tumors. The presence of the t(11;19)(q21;p13) translocation in a subset of MECs has raised interest in genomic aberrations in MEC. In the present study we conducted genome-wide copy-number-aberration analysis by micro-array comparative-genomic-hybridization on 27 MEC samples.Low/intermediate-grade MECs had significantly fewer copy-number-aberrations compared to high-grade MECs (low vs high: 3.48 vs 30; p = 0.0025; intermediate vs high: 5...
April 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28429076/-search-for-risk-genes-in-schizophrenia
#11
D Rujescu
BACKGROUND: Schizophrenia is a severe psychiatric disease affecting approximately 0.5-1% of the general population. The relative contribution of genetic factors has been estimated to be 64-81%. OBJECTIVE: This review summarizes recent efforts to identify genetic variants associated with schizophrenia. METHODS: Relevant linkage and candidate genes as well as genome wide association studies, studies on copy number variants and next generation sequencing are presented and discussed...
April 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28421333/identification-of-putative-second-genetic-hits-in-schizophrenia-carriers-of-high-risk-copy-number-variants-and-resequencing-in-additional-samples
#12
Julio Rodríguez-López, Beatriz Sobrino, Jorge Amigo, Noa Carrera, Julio Brenlla, Santiago Agra, Eduardo Paz, Ángel Carracedo, Mario Páramo, Manuel Arrojo, Javier Costas
Copy number variants (CNVs) conferring risk of schizophrenia present incomplete penetrance, suggesting the existence of second genetic hits. Identification of second hits may help to find genes with rare variants of susceptibility to schizophrenia. The aim of this work was to search for second hits of moderate/high risk in schizophrenia carriers of risk CNVs and resequencing of the relevant genes in additional samples. To this end, ten patients with risk CNVs at cytobands 15q11.2, 15q11.2-13.1, 16p11.2, or 16p13...
April 18, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28375557/genomewide-association-study-on-monoclonal-gammopathy-of-unknown-significance-mgus
#13
Hauke Thomsen, Chiara Campo, Niels Weinhold, Miguel Inacio da Silva Filho, Luděk Pour, Evžen Gregora, Pavel Vodicka, Ludmila Vodickova, Per Hoffmann, Markus M Nöthen, Karl-Heinz Jöckel, Christian Langer, Roman Hajek, Hartmut Goldschmidt, Kari Hemminki, Asta Försti
OBJECTIVES: To identify germ line variants contributing to the development of monoclonal gammopathy of undetermined significance (MGUS), an asymptomatic premalignant precursor for multiple myeloma (MM). METHODS: We conducted the first genomewide association study (GWAS) on MGUS on 243 German cases with a replication on 294 Czech cases. Identified loci were further analyzed in 1508 German MM patients. New MM loci recently reported in a meta-analysis were also tested in the MGUS GWAS...
April 4, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28374858/sulfotransferase-1a3-4-copy-number-variation-is-associated-with-neurodegenerative-disease
#14
N J Butcher, M K Horne, G D Mellick, C J Fowler, C L Masters, R F Minchin
The cytosolic aryl sulfotransferase genes SULT1A3 and SULT1A4 are located on chromosome 16p11.2 in a region of chromosomal instability. SULT1A3/4 are important enzymes in the metabolism of catecholamines linked to neurodegenerative diseases such as Parkinson's and Alzheimer's. In the present study, copy number variation of the SULT1A3/4 genes in healthy individuals, as well as a cohort of Parkinson's disease and Alzheimer's disease patients was examined. In all subjects, SULT1A3/4 copy number varied from 1 to 10...
April 4, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28349640/developmental-trajectories-for-young-children-with-16p11-2-copy-number-variation
#15
Raphael Bernier, Caitlin M Hudac, Qixuan Chen, Chubing Zeng, Arianne Stevens Wallace, Jennifer Gerdts, Rachel Earl, Jessica Peterson, Anne Wolken, Alana Peters, Ellen Hanson, Robin P Goin-Kochel, Stephen Kanne, LeeAnne Green Snyder, Wendy K Chung
Copy number variation at 16p11.2 is associated with diverse phenotypes but little is known about the early developmental trajectories and emergence of the phenotype. This longitudinal study followed 56 children with the 16p11.2 BP4-BP5 deletion or duplication between the ages of 6 months and 8 years with diagnostic characterization and dimensional assessment across cognitive, adaptive, and behavioral domains. Linear mixed modeling revealed distinct developmental trajectories with deletions showing VIQ gains but declines in motor and social abilities while duplications showed VIQ gains and steady development across other domains...
March 27, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28281318/intracranial-myxoid-mesenchymal-tumors-with-ewsr1-creb-family-gene-fusions-myxoid-variant-of-angiomatoid-fibrous-histiocytoma-or-novel-entity
#16
Tejus A Bale, Angelica Oviedo, Harry Kozakewich, Caterina Giannini, Phani K Davineni, Keith Ligon, Sanda Alexandrescu
Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of genes was recently described, and it resembles the myxoid variant of angiomatoid fibrous histiocytoma. We present three pediatric patients with intracranial EWSR1-rearranged myxoid mesenchymal neoplasm and provide a molecular genetic characterization of these tumors. Clinical histories and imaging results were reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS) were performed...
March 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28196412/mapk3-at-the-autism-linked-human-16p11-2-locus-influences-precise-synaptic-target-selection-at-drosophila-larval-neuromuscular-junctions
#17
Sang Mee Park, Hae Ryoun Park, Ji Hye Lee
Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures...
February 2017: Molecules and Cells
https://www.readbyqxmd.com/read/28139699/genome-wide-regulatory-roles-of-the-c2h2-type-zinc-finger-protein-znf764-on-the-glucocorticoid-receptor
#18
Abeer Fadda, Najeeb Syed, Rafah Mackeh, Anna Papadopoulou, Shigeru Suzuki, Puthen V Jithesh, Tomoshige Kino
The C2H2-type zinc finger protein ZNF764 acts as an enhancer for several steroid hormone receptors, and haploinsufficiency of this gene may be responsible for tissue resistance to multiple steroid hormones including glucocorticoids observed in a patient with 16p11.2 microdeletion. We examined genome-wide regulatory actions of ZNF764 on the glucocorticoid receptor (GR) in HeLa cells as a model system. ZNF764- and GR-binding sites demonstrated similar distribution in various genomic features. They positioned predominantly around 50-500 kbs from the transcription start sites of their nearby genes, and were closely localized with each other, overlapping in ~37% of them...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28096781/a-replication-study-of-schizophrenia-related-rare-copy-number-variations-in-a-han-southern-chinese-population
#19
Jianmin Yuan, Jianlin Hu, Zhiqiang Li, Fuquan Zhang, Dexiang Zhou, Chunhui Jin
BACKGROUND: Schizophrenia (SCZ) is a common, complex and severe psychiatric disorder associated with many different genetic and environmental risk factors. Evidence from genetic studies has revealed the role of genome structural variations, specifically copy number variants (CNVs), in the etiology of SCZ. Nevertheless, the occurrence of CNVs and their relation to SCZ has remained relatively unstudied in the diverse Han Chinese population. RESULTS: We used a case/control paradigm, including 476 cases and 1023 controls...
2017: Hereditas
https://www.readbyqxmd.com/read/28065648/taok2-kinase-mediates-psd95-stability-and-dendritic-spine-maturation-through-septin7-phosphorylation
#20
Smita Yadav, Juan A Oses-Prieto, Christian J Peters, Jing Zhou, Samuel J Pleasure, Alma L Burlingame, Lily Y Jan, Yuh-Nung Jan
Abnormalities in dendritic spines are manifestations of several neurodevelopmental and psychiatric diseases. TAOK2 is one of the genes in the 16p11.2 locus, copy number variations of which are associated with autism and schizophrenia. Here, we show that the kinase activity of the serine/threonine kinase encoded by TAOK2 is required for spine maturation. TAOK2 depletion results in unstable dendritic protrusions, mislocalized shaft-synapses, and loss of compartmentalization of NMDA receptor-mediated calcium influx...
January 18, 2017: Neuron
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