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https://www.readbyqxmd.com/read/28552951/common-variants-near-ikzf1-are-associated-with-primary-sj%C3%A3-gren-s-syndrome-in-han-chinese
#1
Susu Qu, Yang Du, Suhua Chang, Liyuan Guo, Kechi Fang, Yongzhe Li, Fengchun Zhang, Kunlin Zhang, Jing Wang
Primary Sjögren's syndrome (pSS) is a systematic autoimmune disease with evidence of genetic predisposition. The IKZF1 (IKAROS family zinc finger 1 (Ikaros)) gene is located at 7p12.2, encodes a transcription factor related to chromatin remodeling, regulates lymphocyte differentiation, and has been reported to be associated with some autoimmune diseases. However, there have been no reports of an association between IKZF1 and pSS. To investigate the possibility of an association between the IKZF1 locus and pSS, we selected two single nucleotide polymorphisms (SNPs) in the IKZF1 locus, rs4917129 and rs4917014, based on a detailed analysis of genome-wide association study (GWAS) data and performed genotyping in 665 Han Chinese pSS patients and 863 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28499504/williams-syndrome-deletions-and-duplications-genetic-windows-to-understanding-anxiety-sociality-autism-and-schizophrenia
#2
REVIEW
Bernard J Crespi, Tanya L Procyshyn
We describe and evaluate an integrative hypothesis for helping to explain the major neurocognitive features of individuals with Williams syndrome region deletions and duplications. First, we demonstrate how the cognitive differences between Williams syndrome individuals, individuals with duplications of this region, and healthy individuals parallel the differences between individuals subject to effects of increased or decreased oxytocin. Second, we synthesize evidence showing that variation in expression of the gene GTF2I (General Transcription Factor II-I) underlies the primary social phenotypes of Williams syndrome and that common genetic variation in GTF2I mediates oxytocin reactivity, and its correlates, in healthy populations...
August 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28461154/pathophysiology-of-tfii-i-old-guard-wearing-new-hats
#3
REVIEW
Ananda L Roy
The biochemical properties of the signal-induced multifunctional transcription factor II-I (TFII-I) indicate that it is involved in a variety of gene regulatory processes. Although gene ablation in murine models and cell-based assays show that it is encoded by an essential gene, GTF2I/Gtf2i, its physiologic role in human disorders was relatively unknown until recently. Novel studies show that it is involved in an array of human diseases including neurocognitive disorders, systemic lupus erythematosus (SLE), and cancer...
April 28, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28448514/a-new-gtf2i-braf-fusion-mediating-mapk-pathway-activation-in-pilocytic-astrocytoma
#4
Tajana Tešan Tomić, Josefin Olausson, Annica Wilzén, Magnus Sabel, Katarina Truvé, Helene Sjögren, Sándor Dósa, Magnus Tisell, Birgitta Lannering, Fredrik Enlund, Tommy Martinsson, Pierre Åman, Frida Abel
Pilocytic astrocytoma (PA) is the most common pediatric brain tumor. A recurrent feature of PA is deregulation of the mitogen activated protein kinase (MAPK) pathway most often through KIAA1549-BRAF fusion, but also by other BRAF- or RAF1-gene fusions and point mutations (e.g. BRAFV600E). These features may serve as diagnostic and prognostic markers, and also facilitate development of targeted therapy. The aims of this study were to characterize the genetic alterations underlying the development of PA in six tumor cases, and evaluate methods for fusion oncogene detection...
2017: PloS One
https://www.readbyqxmd.com/read/28424317/the-williams-syndrome-prosociality-gene-gtf2i-mediates-oxytocin-reactivity-and-social-anxiety-in-a-healthy-population
#5
Tanya L Procyshyn, Jason Spence, Silven Read, Neil V Watson, Bernard J Crespi
The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I (general transcription factor II-I), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity...
April 2017: Biology Letters
https://www.readbyqxmd.com/read/28400429/genomic-analysis-of-thymic-epithelial-tumors-identifies-novel-subtypes-associated-with-distinct-clinical-features
#6
Hyun-Sung Lee, Hee-Jin Jang, Rohan Shah, David Yoon, Masatsugu Hamaji, Ori Wald, Ju-Seog Lee, David J Sugarbaker, Bryan M Burt
PURPOSE To reconcile the heterogeneity of thymic epithelial tumors (TETs) and gain deeper understanding of the molecular determinants of TETs, we set out to establish a clinically relevant molecular classification system for these tumors. <p>EXPERIMENTAL DESIGN Molecular subgrouping of TETs was performed in 120 patients from The Cancer Genome Atlas using a multidimensional approach incorporating analyses of DNA mutations, mRNA expression, and somatic copy number alterations (SCNA), and validated in two independent cohorts...
April 11, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28350066/dna-damage-response-defect-in-williams-beuren-syndrome
#7
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28212274/role-of-splice-variants-of-gtf2i-a-transcription-factor-localizing-at-postsynaptic-sites-and-its-relation-to-neuropsychiatric-diseases
#8
REVIEW
Yoshinori Shirai, Weidong Li, Tatsuo Suzuki
We previously reported that various mRNAs were associated with postsynaptic density (PSD) purified from rat forebrain. Among the thousands of PSD-associated mRNAs, we highlight the biology of the general transcription factor II-I (Gtf2i) mRNA, focusing on the significance of its versatile splicing for targeting its own mRNA into dendrites, regulation of translation, and the effects of Gtf2i expression level as well as its relationship with neuropsychiatric disorders.
February 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28135245/a-missense-variant-in-ncf1-is-associated-with-susceptibility-to-multiple-autoimmune-diseases
#9
Jian Zhao, Jianyang Ma, Yun Deng, Jennifer A Kelly, Kwangwoo Kim, So-Young Bang, Hye-Soon Lee, Quan-Zhen Li, Edward K Wakeland, Rong Qiu, Mengru Liu, Jianping Guo, Zhanguo Li, Wenfeng Tan, Astrid Rasmussen, Christopher J Lessard, Kathy L Sivils, Bevra H Hahn, Jennifer M Grossman, Diane L Kamen, Gary S Gilkeson, Sang-Cheol Bae, Patrick M Gaffney, Nan Shen, Betty P Tsao
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type I interferon signature. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47(phox) subunit of the phagocyte NADPH oxidase (NOX2), as the putative underlying causal variant that drives a strong SLE-associated signal detected by the Immunochip in the GTF2IRD1-GTF2I region at 7q11.23 with a complex genomic structure. We show that the p...
March 2017: Nature Genetics
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#10
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
March 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28024705/common-variation-in-the-gtf2i-gene-a-promising-neurogenetic-mechanism-for-affiliative-drive-and-social-anxiety
#11
Janina I Schweiger, Andreas Meyer-Lindenberg
No abstract text is available yet for this article.
February 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/27503288/identification-of-susceptibility-gene-associated-with-female-primary-sj%C3%A3-gren-s-syndrome-in-han-chinese-by-genome-wide-association-study
#12
I-Wen Song, Hsiang-Cheng Chen, Yuh-Feng Lin, Jenn-Hwai Yang, Chi-Ching Chang, Chung-Tei Chou, Ming-Ta Michael Lee, Yi-Chun Chou, Chien-Hsiun Chen, Yuan-Tsong Chen, Chen-Hung Chen, Jer-Yuarn Wu
Primary Sjögren's syndrome (PSS) is an autoimmune disease targeting exocrine glands. It ten times more dominantly affects women than men with an onset peak at menopause. The genetic factor predisposing women to PSS remains unclear. Therefore, we aimed to identify susceptibility loci for PSS in women. We performed genome-wide association study (GWAS) using 242 female PSS patients and 1444 female control in Han Chinese population residing in Taiwan. Replication was conducted in an independent cohort of 178 female PSS and 14,432 control subjects...
November 2016: Human Genetics
https://www.readbyqxmd.com/read/27369867/activating-mutations-in-genes-related-to-tcr-signaling-in-angioimmunoblastic-and-other-follicular-helper-t-cell-derived-lymphomas
#13
David Vallois, Maria Pamela D Dobay, Ryan D Morin, François Lemonnier, Edoardo Missiaglia, Mélanie Juilland, Justyna Iwaszkiewicz, Virginie Fataccioli, Bettina Bisig, Annalisa Roberti, Jasleen Grewal, Julie Bruneau, Bettina Fabiani, Antoine Martin, Christophe Bonnet, Olivier Michielin, Jean-Philippe Jais, Martin Figeac, Olivier A Bernard, Mauro Delorenzi, Corinne Haioun, Olivier Tournilhac, Margot Thome, Randy D Gascoyne, Philippe Gaulard, Laurence de Leval
Angioimmunoblastic T-cell lymphoma (AITL) and other lymphomas derived from follicular T-helper cells (TFH) represent a large proportion of peripheral T-cell lymphomas (PTCLs) with poorly understood pathogenesis and unfavorable treatment results. We investigated a series of 85 patients with AITL (n = 72) or other TFH-derived PTCL (n = 13) by targeted deep sequencing of a gene panel enriched in T-cell receptor (TCR) signaling elements. RHOA mutations were identified in 51 of 85 cases (60%) consisting of the highly recurrent dominant negative G17V variant in most cases and a novel K18N in 3 cases, the latter showing activating properties in in vitro assays...
September 15, 2016: Blood
https://www.readbyqxmd.com/read/27295951/rna-seq-analysis-of-gtf2ird1-knockout-epidermal-tissue-provides-potential-insights-into-molecular-mechanisms-underpinning-williams-beuren-syndrome
#14
Susan M Corley, Cesar P Canales, Paulina Carmona-Mora, Veronica Mendoza-Reinosa, Annemiek Beverdam, Edna C Hardeman, Marc R Wilkins, Stephen J Palmer
BACKGROUND: Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects. It is caused by a hemizygous microdeletion involving up to 28 genes in chromosome 7q11.23. Genotype/phenotype analysis of atypical microdeletions implicates two evolutionary-related transcription factors, GTF2I and GTF2IRD1, as prime candidates for the cause of the facial dysmorphology. RESULTS: Using a targeted Gtf2ird1 knockout mouse, we employed massively-parallel sequencing of mRNA (RNA-Seq) to understand changes in the transcriptional landscape associated with inactivation of Gtf2ird1 in lip tissue...
2016: BMC Genomics
https://www.readbyqxmd.com/read/27272985/association-heterogeneity-mapping-identifies-an-asian-specific-association-of-the-gtf2i-locus-with-rheumatoid-arthritis
#15
Kwangwoo Kim, So-Young Bang, Katsunori Ikari, Dae Hyun Yoo, Soo-Kyung Cho, Chan-Bum Choi, Yoon-Kyoung Sung, Tae-Hwan Kim, Jae-Bum Jun, Young Mo Kang, Chang-Hee Suh, Seung-Cheol Shim, Shin-Seok Lee, Jisoo Lee, Won Tae Chung, Seong-Kyu Kim, Jung-Yoon Choe, Shigeki Momohara, Atsuo Taniguchi, Hisashi Yamanaka, Swapan K Nath, Hye-Soon Lee, Sang-Cheol Bae
Considerable sharing of disease alleles among populations is well-characterized in autoimmune disorders (e.g., rheumatoid arthritis), but there are some exceptional loci showing heterogenic association among populations. Here we investigated genetic variants with distinct effects on the development of rheumatoid arthritis in Asian and European populations. Ancestry-related association heterogeneity was examined using Cochran's homogeneity tests for the disease association data from large Asian (n = 14,465; 9,299 discovery subjects and 5,166 validation subjects; 4 collections) and European (n = 45,790; 11 collections) rheumatoid arthritis case-control cohorts with Immunochip and genome-wide SNP array data...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27194223/generation-of-a-mouse-model-for-a-conditional-inactivation-of-gtf2i-allele
#16
Badam Enkhmandakh, Chris Stoddard, Kris Mack, Wei He, Deb Kaback, Siu-Pok Yee, Dashzeveg Bayarsaihan
The multifunctional transcription factor TFII-I encoded by the Gtf2i gene is expressed at the two-cell stage, inner cell mass, trophectoderm, and early gastrula stages of the mouse embryo. In embryonic stem cells, TFII-I colocalizes with bivalent domains and depletion of Gtf2i causes embryonic lethality, neural tube closure, and craniofacial defects. To gain insight into the function of TFII-I during late embryonic and postnatal stages, we have generated a conditional Gtf2i null allele by flanking exon 3 with loxP sites...
2016: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/27053602/nucleolar-enrichment-of-brain-proteins-with-critical-roles-in-human-neurodevelopment
#17
Lukasz P Slomnicki, Agata Malinowska, Michal Kistowski, Antoni Palusinski, Jing-Juan Zheng, Mari Sepp, Tonis Timmusk, Michal Dadlez, Michal Hetman
To study nucleolar involvement in brain development, the nuclear and nucleolar proteomes from the rat cerebral cortex at postnatal day 7 were analyzed using LC-MS/iTRAQ methodology. Data of the analysis are available via ProteomeXchange with identifier PXD002188. Among 504 candidate nucleolar proteins, the overrepresented gene ontology terms included such cellular compartmentcategories as "nucleolus", "ribosome" and "chromatin". Consistent with such classification, the most overrepresented functional gene ontology terms were related to RNA metabolism/ribosomal biogenesis, translation, and chromatin organization...
June 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27014003/neural-androgen-receptors-modulate-gene-expression-and-social-recognition-but-not-social-investigation
#18
Sara A Karlsson, Erik Studer, Petronella Kettunen, Lars Westberg
The role of sex and androgen receptors (ARs) for social preference and social memory is rather unknown. In this study of mice we compared males, females and males lacking ARs specifically in the nervous system, AR(NesDel), with respect to social preference, assessed with the three-chambered apparatus test, and social recognition, assessed with the social discrimination procedure. In the social discrimination test we also evaluated the tentative importance of the sex of the stimulus animal. Novel object recognition and olfaction were investigated to complement the results from the social tests...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/26853120/a-common-polymorphism-in-a-williams-syndrome-gene-predicts-amygdala-reactivity-and-extraversion-in-healthy-adults
#19
Johnna R Swartz, Rebecca Waller, Ryan Bogdan, Annchen R Knodt, Aditi Sabhlok, Luke W Hyde, Ahmad R Hariri
BACKGROUND: Williams syndrome (WS), a genetic disorder resulting from hemizygous microdeletion of chromosome 7q11.23, has emerged as a model for identifying the genetic architecture of socioemotional behavior. Common polymorphisms in GTF2I, which is found within the WS microdeletion, have been associated with reduced social anxiety in the general population. Identifying neural phenotypes affected by these polymorphisms would help advance our understanding not only of this specific genetic association but also of the broader neurogenetic mechanisms of variability in socioemotional behavior...
February 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/26845637/histological-spectrum-of-angiofibroma-of-soft-tissue-histological-and-genetic-analysis-of-13-cases
#20
Yuichi Yamada, Hidetaka Yamamoto, Kenichi Kohashi, Takeaki Ishii, Kunio Iura, Akira Maekawa, Hirofumi Bekki, Hiroshi Otsuka, Kyoko Yamashita, Hiroyuki Tanaka, Tsubasa Hiraki, Munenori Mukai, Atsuko Shirakawa, Yoko Shinnou, Mari Jinno, Hiroyuki Yanai, Kenichi Taguchi, Yoshihiko Maehara, Yukihide Iwamoto, Yosinao Oda
AIMS: Angiofibroma of soft tissue (AFST) is a rare soft tissue neoplasm characterized by a fibroblastic cytomorphology and a prominent vascular structure. AFSTs possess a novel fusion gene, i.e. NCOA2-AHRR/AHRR-NCOA2 or GTF2I-NCOA2, providing a useful approach to diagnosing AFST. Morphologically, AFSTs span a wide spectrum, making diagnosis a challenge. The aim of this study was to review AFST cases and to report previously unknown histological features, which we confirmed by genetic analysis...
September 2016: Histopathology
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