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Relevant bibliographies by topics / 16p11.2

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Academic literature on the topic '16p11.2'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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Journal articles on the topic "16p11.2"

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Li, Jingling, Thomas Brickler, Allison Banuelos, et al. "Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome." Proceedings of the National Academy of Sciences 118, no. 15 (2021): e2005483118. http://dx.doi.org/10.1073/pnas.2005483118.

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Copy number variation (CNV) at the 16p11.2 locus is associated with neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can manifest in opposing head sizes. Carriers of 16p11.2 deletion tend to have macrocephaly (or brain enlargement), while those with 16p11.2 duplication frequently have microcephaly. Increases in both gray and white matter volume have been observed in brain imaging studies in 16p11.2 deletion carriers with macrocephaly. Here, we use human induced pluripotent stem cells (hiPSCs) derived from controls and subjects with 16p11.2 de

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Chu, Caleb, Haotian Wu, Fangling Xu, et al. "Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution." Laboratory Medicine 51, no. 6 (2020): 642–48. http://dx.doi.org/10.1093/labmed/lmaa026.

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Abstract Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1–BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on 16p11.2 include a proximal ~593 kb between BP4 and BP5, and a distal ~220 kb between BP2 and BP3. We performed a search for patients carrying 16p11.2 CNVs, as detected using chromosome microarray (CMA), in the Molecular Diagnostic Laboratory at the University of Texas Medical Branch (UTMB), in Galves

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Chung, Wendy K., Timothy PL Roberts, Elliott H. Sherr, LeeAnne Green Snyder, and John E. Spiro. "16p11.2 deletion syndrome." Current Opinion in Genetics & Development 68 (June 2021): 49–56. http://dx.doi.org/10.1016/j.gde.2021.01.011.

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Sadler, Brooke, Gabe Haller, Lilian Antunes, et al. "Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis." Journal of Medical Genetics 56, no. 7 (2019): 427–33. http://dx.doi.org/10.1136/jmedgenet-2018-105877.

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IntroductionAdolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important role in congenital scoliosis, but their role in idiopathic scoliosis has been largely unexplored.MethodsExome sequence data from 1197 AIS cases and 1664 in-house controls was analysed using coverage data to identify rare CNVs. CNV calls were filtered to include only highly confident CNVs with >10 average reads per region and mean log-ratio of coverage consistent with single-copy duplication or deletion. The frequency of 55 common recu

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Posar, Annio, and Paola Visconti. "Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series." Children 7, no. 10 (2020): 190. http://dx.doi.org/10.3390/children7100190.

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Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotype of these patients are few. We described a sample of children with duplication of chromosome 16p11.2 focusing on the neuro-behavioral phenotype. The five patients reported presented with very heterogeneous conditions as for characteristics and severity, ranging from a learning disorder in a child with normal intelligence quotient to an autism spec

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Levkova, Mariya, Milena Stoyanova, Rada Staneva, Mari Hachmeriyan, and Lyudmila Angelova. "16p11.2 Duplication Syndrome - a Case Report." Folia Medica 63, no. 1 (2021): 138–41. http://dx.doi.org/10.3897/folmed.63.e52763.

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16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation &ndash; slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic muta

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Redaelli, Serena, Silvia Maitz, Francesca Crosti, et al. "Refining the Phenotype of Recurrent Rearrangements of Chromosome 16." International Journal of Molecular Sciences 20, no. 5 (2019): 1095. http://dx.doi.org/10.3390/ijms20051095.

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Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at

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Blizinsky, Katherine D., Blanca Diaz-Castro, Marc P. Forrest, et al. "Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub." Proceedings of the National Academy of Sciences 113, no. 30 (2016): 8520–25. http://dx.doi.org/10.1073/pnas.1607014113.

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The architecture of dendritic arbors contributes to neuronal connectivity in the brain. Conversely, abnormalities in dendrites have been reported in multiple mental disorders and are thought to contribute to pathogenesis. Rare copy number variations (CNVs) are genetic alterations that are associated with a wide range of mental disorders and are highly penetrant. The 16p11.2 microduplication is one of the CNVs most strongly associated with schizophrenia and autism, spanning multiple genes possibly involved in synaptic neurotransmission. However, disease-relevant cellular phenotypes of 16p11.2 m

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Barber, John C. K., Victoria Hall, Viv K. Maloney, et al. "16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2." European Journal of Human Genetics 21, no. 2 (2012): 182–89. http://dx.doi.org/10.1038/ejhg.2012.144.

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Kumar, R. A., S. KaraMohamed, J. Sudi, et al. "Recurrent 16p11.2 microdeletions in autism." Human Molecular Genetics 17, no. 4 (2007): 628–38. http://dx.doi.org/10.1093/hmg/ddm376.

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Dissertations / Theses on the topic "16p11.2"

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Kamara, Dana Eliya. "Characterizing the Sleep Phenotype in 16p11.2 Deletion and Duplication." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1590253282112184.

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Ouellette, Julie. "Role of Cerebrovascular Abnormalities in the 16p11.2 Deletion Autism Syndrome." Thesis, Université d'Ottawa / University of Ottawa, 2019. http://hdl.handle.net/10393/38740.

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Brain development and function rely on vascular features that ensure adequate supply of oxygen and nutrients from the blood stream. These features consist of a well-established vascular network, a functional blood-brain barrier, as well as cerebral blood flow regulation. Early life impairments in these features can lead to neurodevelopmental defects. Very few studies have considered the contribution of the brain vasculature to autism spectrum disorders (ASD). A recent postmortem study in young ASD brains suggested an impairment in angiogenesis, a process through which new vessels are formed. A

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Jo, Adrienne. "Reduced Expression of Single 16p11.2 CNV Genes Alters Neuronal Morphology." Scholarship @ Claremont, 2019. https://scholarship.claremont.edu/cmc_theses/2091.

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The 16p11.2 copy-number variant (CNV) represents a well-characterized, high-risk factor for autism spectrum disorder that additionally predisposes deletion carriers (16pdel) to increased head circumference, known as macrocephaly. The 16p11.2 CNV consists of 29 known genes, many of which are associated with neurobiological processes relevant for macrocephaly such as cell proliferation and apoptosis, differentiation and cell growth. Our lab’s previous work has demonstrated that induced pluripotent stem cell (iPSC)-derived neurons from 16pdel carriers show altered cellular morphology related to g

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Dastan, Jila. "Exome sequencing for understanding phenotypic variability in subjects with 16p11.2 CNV." Thesis, University of British Columbia, 2016. http://hdl.handle.net/2429/57796.

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Microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by variable expressivity. I hypothesized that while some unique features reported in individuals with dup16p11.2 may be explained by the over-expression of its integral genes, co-occurrence of other genetic alterations in the genome may account for the variability in their clinical phenotypes. This hypothesis was explored in two unrelated subjects with NDD who each inherited the dup16p11.2 from an apparently healthy carrier parent. First, I performed a detailed phenoty

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Georgi, Udo [Verfasser]. "Functional Analysis of Autism Genes in Zebrafish : Investigation of the Autism Related 16p11.2 Deletion / Udo Georgi." Berlin : Freie Universität Berlin, 2014. http://d-nb.info/1051812429/34.

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Haslinger, Denise [Verfasser], Amparo [Gutachter] Acker-Palmer, and Christine M. [Gutachter] Freitag. "The ASD-associated CNV 16p11.2: Functional study of the candidate gene QPRT / Denise Haslinger ; Gutachter: Amparo Acker-Palmer, Christine M. Freitag." Frankfurt am Main : Universitätsbibliothek Johann Christian Senckenberg, 2018. http://d-nb.info/1172500584/34.

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Menzies, Caitlin. "Characterization of Metabolic Alterations in Mouse Models of Neurodevelopmental Disorders." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42256.

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Background: Prevalence of metabolic disturbances is higher among individuals with neurodevelopmental disorders (NDDs), yet this association has been poorly studied. Investigation into human disease remains challenging, as a complete pathophysiological understanding relies on accurate modeling and highly controlled variables. As such, genetically engineered mouse models are increasingly used to gain insight into the biology of human NDDs, but preclinical research focus has been mainly on behavioral and neurophysiological abnormalities. Mouse models engineered to embody human-equivalent genetic

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Kempfer, Rieke. "Chromatin folding in health and disease: exploring allele-specific topologies and the reorganization due to the 16p11.2 deletion in autism-spectrum disorder." Doctoral thesis, Humboldt-Universität zu Berlin, 2020. http://dx.doi.org/10.18452/22071.

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Die 3D Struktur von Chromosomen im Zellkern reguliert verschiedene Funktionen in der Zelle und Fehler in der 3D Faltung des Genoms können pathogen sein. 3D Genomfaltung kann mit verschiedenen Methoden untersucht werden um Chromatinkontakte, sowie die Position von DNA in Relation zu sub-nuklearen Bereichen oder der Kernmembran zu detektieren. Hier verwende ich GAM und Hi-C um zwei Aspekte der 3D Genomtopologie zu untersuchen, die Allelspezifität von Chromatinkontakten und Kontakte zwischen Chromosomen. Ich untersuche allelspezifische Kontakte in murinen embryonalen Stammzellen und Interaktionen

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Kempfer, Rieke [Verfasser]. "Chromatin folding in health and disease: exploring allele-specific topologies and the reorganization due to the 16p11.2 deletion in autism-spectrum disorder. / Rieke Kempfer." Berlin : Humboldt-Universität zu Berlin, 2020. http://d-nb.info/1221128973/34.

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Martin, Lorenzo Sandra. "Approches génétiques et thérapeutiques visant à comprendre et atténuer les conséquences de la délétion et duplication de la région 16p11.2 dans des modèles précliniques." Thesis, Strasbourg, 2019. http://www.theses.fr/2019STRAJ064.

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Les variations du nombre de copies (CNVs) des régions chromosomiques sont une source importante de variabilité chez l’humain. Ainsi certaines altérations structurelles ont été associées à des maladies syndromiques comme les CNVs de la région 16p11.2. Les réarrangements de cette région représentent un facteur de risque important pour le diagnostic de troubles du neurodéveloppement, tels que la déficience intellectuelle et les troubles du spectre autistique (ASD). Pourtant, la grande densité en gènes de la région et la forte variabilité phénotypique rendent leur étude complexe. La modélisation c

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Book chapters on the topic "16p11.2"

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Sanders, Stephan, Kate Snyder, Kara Hume, Christi Carnahan, and Stephan Sanders. "16p11.2." In Encyclopedia of Autism Spectrum Disorders. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_1987.

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Sanders, Stephan. "16p11.2." In Encyclopedia of Autism Spectrum Disorders. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_1987.

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Turkalj, Luka, Monal Mehta, Paul Matteson, et al. "Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons." In Advances in Neurobiology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-45493-7_4.

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"CD19 (16p11.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_2481.

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"Renal Glucosuria (16p11.2, 6p21.3)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_14376.

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Kirov, George, Michael C. O’Donovan, and Michael J. Owen. "Genomic Syndromes in Schizophrenia." In Neurobiology of Mental Illness, edited by Pamela Sklar. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199934959.003.0019.

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Several submicroscopic genomic deletions and duplications known as copy number variants (CNVs) have been reported to increase susceptibility to schizophrenia. Those for which the evidence is particularly strong include deletions at chromosomal segments 1q21.1, 3q29, 15q11.2, 15q13.3, 17q12 and 22q11.2, duplications at 15q11.2-q13.1, 16p13.1, and 16p11.2, and deletions atthe gene NRXN1. The effect of each on individual risk is relatively large, but it does not appear that any of them is alone sufficient to cause disorder in carriers. These CNVs often arise as new mutations(de novo). Analyses of genes enriched among schizophrenia implicated CNVs highlight the involvement in the disorder of post-synaptic processes relevant to glutamatergicsignalling, cognition and learning. CNVs that contribute to schizophrenia risk also contribute to other neurodevelopmental disorders, including intellectual disability, developmental delay and autism. As a result of selection, all known pathogenic CNVs are rare, and none makes a sizeable contribution to overall population risk of schizophrenia, although the study of these mutations is nevertheless providing important insights into the origins of the disorder.

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"GABA Transaminase (16p13.3)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_6369.

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"Pseudoxanthoma Elasticum (PXE, 16p13.1)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_13769.

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"Delta 1 (TPSD1, 16p13.3)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_4267.

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"Cardiotrophin (CT-1, ~22 kDa, encoded at 16p11.1-p11.2)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_2335.

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Conference papers on the topic "16p11.2"

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Nedham Al-shafai, Mashael, Wadha Al Muftah, Pankaj Kumar, Khaled Machaca, Karsten Suhre, and Mario Falchi. "The 16p11.2 Deletion In An Extremely Obese Patient From Qatar." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2014. http://dx.doi.org/10.5339/qfarc.2014.hbsp0858.

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Diskin, Sharon J., Mario Capasso, Maura Diamond, et al. "Abstract 3811: Rare variants at 16p11.2 and withinTP53influence neuroblastoma susceptibility." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-3811.

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