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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
#1
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
#2
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
#3
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
#4
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
#5
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...
July 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
#6
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
#7
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
#8
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...
December 15, 2015: Biological Psychiatry
https://www.readbyqxmd.com/read/26845637/histological-spectrum-of-angiofibroma-of-soft-tissue-histological-and-genetic-analysis-of-13-cases
#9
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
https://www.readbyqxmd.com/read/26808113/high-density-genotyping-of-immune-related-loci-identifies-new-sle-risk-variants-in-individuals-with-asian-ancestry
#10
Celi Sun, Julio E Molineros, Loren L Looger, Xu-Jie Zhou, Kwangwoo Kim, Yukinori Okada, Jianyang Ma, Yuan-Yuan Qi, Xana Kim-Howard, Prasenjeet Motghare, Krishna Bhattarai, Adam Adler, So-Young Bang, Hye-Soon Lee, Tae-Hwan Kim, Young Mo Kang, Chang-Hee Suh, Won Tae Chung, Yong-Beom Park, Jung-Yoon Choe, Seung Cheol Shim, Yuta Kochi, Akari Suzuki, Michiaki Kubo, Takayuki Sumida, Kazuhiko Yamamoto, Shin-Seok Lee, Young Jin Kim, Bok-Ghee Han, Mikhail Dozmorov, Kenneth M Kaufman, Jonathan D Wren, John B Harley, Nan Shen, Kek Heng Chua, Hong Zhang, Sang-Cheol Bae, Swapan K Nath
Systemic lupus erythematosus (SLE) has a strong but incompletely understood genetic architecture. We conducted an association study with replication in 4,478 SLE cases and 12,656 controls from six East Asian cohorts to identify new SLE susceptibility loci and better localize known loci. We identified ten new loci and confirmed 20 known loci with genome-wide significance. Among the new loci, the most significant locus was GTF2IRD1-GTF2I at 7q11.23 (rs73366469, Pmeta = 3.75 × 10(-117), odds ratio (OR) = 2.38), followed by DEF6, IL12B, TCF7, TERT, CD226, PCNXL3, RASGRP1, SYNGR1 and SIGLEC6...
March 2016: Nature Genetics
https://www.readbyqxmd.com/read/26686423/network-assisted-analysis-of-primary-sj%C3%A3-gren-s-syndrome-gwas-data-in-han-chinese
#11
Kechi Fang, Kunlin Zhang, Jing Wang
Primary Sjögren's syndrome (pSS) is a complex autoimmune disorder. So far, genetic research in pSS has lagged far behind and the underlying biological mechanism is unclear. Further exploring existing genome-wide association study (GWAS) data is urgently expected to uncover disease-related gene combination patterns. Herein, we conducted a network-based analysis by integrating pSS GWAS in Han Chinese with a protein-protein interactions network to identify pSS candidate genes. After module detection and evaluation, 8 dense modules covering 40 genes were obtained for further functional annotation...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26679893/identification-of-differential-genes-expression-profiles-and-pathways-of-bone-marrow-mesenchymal-stem-cells-of-adolescent-idiopathic-scoliosis-patients-by-microarray-and-integrated-gene-network-analysis
#12
Qianyu Zhuang, Wenzhe Mao, Pengchao Xu, Hongling Li, Zhao Sun, Shugang Li, Guixing Qiu, Jing Li, Jianguo Zhang
STUDY DESIGN: Microarray approach and integrated gene network analysis. OBJECTIVE: To explore the differential genetic expression profile, gene ontology terms, and Kyoto Encyclopedia of Genes and Genomes pathways in bone marrow mesenchymal stem cells (BM-MSCs) of idiopathic scoliosis (AIS) and non-AIS controls. SUMMARY OF BACKGROUND DATA: The pathogenesis of adolescent AIS and the accompanying generalized osteopenia remain unclear. Our previous study suggested increased proliferation ability and decreased osteogenic differentiation ability of BM-MSCs of AIS...
May 2016: Spine
https://www.readbyqxmd.com/read/26552583/the-genetics-of-feed-conversion-efficiency-traits-in-a-commercial-broiler-line
#13
Henry Reyer, Rachel Hawken, Eduard Murani, Siriluck Ponsuksili, Klaus Wimmers
Individual feed conversion efficiency (FCE) is a major trait that influences the usage of energy resources and the ecological footprint of livestock production. The underlying biological processes of FCE are complex and are influenced by factors as diverse as climate, feed properties, gut microbiota, and individual genetic predisposition. To gain an insight to the genetic relationships with FCE traits and to contribute to the improvement of FCE in commercial chicken lines, a genome-wide association study was conducted using a commercial broiler population (n = 859) tested for FCE and weight traits during the finisher period from 39 to 46 days of age...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26464974/disruption-of-src-is-associated-with-phenotypes-related-to-williams-beuren-syndrome-and-altered-cellular-localization-of-tfii-i-1-2
#14
Laleh Sinai, Evgueni A Ivakine, Emily Lam, Marielle Deurloo, Joana Dida, Ralph A Zirngibl, Cynthia Jung, Jane E Aubin, Zhong-Ping Feng, John Yeomans, Roderick R McInnes, Lucy R Osborne, John C Roder
Src is a nonreceptor protein tyrosine kinase that is expressed widely throughout the central nervous system and is involved in diverse biological functions. Mice homozygous for a spontaneous mutation in Src (Src (thl/thl) ) exhibited hypersociability and hyperactivity along with impairments in visuospatial, amygdala-dependent, and motor learning as well as an increased startle response to loud tones. The phenotype of Src (thl/thl) mice showed significant overlap with Williams-Beuren syndrome (WBS), a disorder caused by the deletion of several genes, including General Transcription Factor 2-I (GTF2I)...
March 2015: ENeuro
https://www.readbyqxmd.com/read/26320362/association-of-gtf2i-and-gtf2ird1-polymorphisms-with-systemic-lupus-erythematosus-in-a-chinese-han-population
#15
Yuan Li, Ping Li, Si Chen, Ziyan Wu, Jing Li, Shulan Zhang, Chunwei Cao, Li Wang, Bin Liu, Fengchun Zhang, Yong Zhe Li
OBJECTIVES: Systemic lupus erythematosus (SLE) is the most common systemic autoimmune disease which likely involves complex interactions between genes and the environment. Two large-scale genome-wide association studies (GWAS) have implicated many loci as genetic risk factors associated with primary Sjögren's syndrome (pSS). Among them there are a number of pSS associated gene polymorphisms including the MHC-II, STAT4, IRF5, BLK, and TNIP1 genes that are shared with SLE. However, the association of other genes such as GTF2I, GTF2IRD1, and IL12A with SLE remain unknown...
September 2015: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/26285132/variation-in-the-williams-syndrome-gtf2i-gene-and-anxiety-proneness-interactively-affect-prefrontal-cortical-response-to-aversive-stimuli
#16
M Jabbi, Q Chen, N Turner, P Kohn, M White, J S Kippenhan, D Dickinson, B Kolachana, V Mattay, D R Weinberger, K F Berman
Characterizing the molecular mechanisms underlying the heritability of complex behavioral traits such as human anxiety remains a challenging endeavor for behavioral neuroscience. Copy-number variation (CNV) in the general transcription factor gene, GTF2I, located in the 7q11.23 chromosomal region that is hemideleted in Williams syndrome and duplicated in the 7q11.23 duplication syndrome (Dup7), is associated with gene-dose-dependent anxiety in mouse models and in both Williams syndrome and Dup7. Because of this recent preclinical and clinical identification of a genetic influence on anxiety, we examined whether sequence variation in GTF2I, specifically the single-nucleotide polymorphism rs2527367, interacts with trait and state anxiety to collectively impact neural response to anxiety-laden social stimuli...
2015: Translational Psychiatry
https://www.readbyqxmd.com/read/26275350/the-nuclear-localization-pattern-and-interaction-partners-of-gtf2ird1-demonstrate-a-role-in-chromatin-regulation
#17
Paulina Carmona-Mora, Jocelyn Widagdo, Florence Tomasetig, Cesar P Canales, Yeojoon Cha, Wei Lee, Abdullah Alshawaf, Mirella Dottori, Renee M Whan, Edna C Hardeman, Stephen J Palmer
GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variety of developmental systems and neurological functions. Human mapping data and analyses of knockout mice show that GTF2IRD1 and GTF2I underpin the craniofacial abnormalities, mental retardation, visuospatial deficits and hypersociability of WBS...
October 2015: Human Genetics
https://www.readbyqxmd.com/read/26216516/intracisternal-gtf2i-gene-therapy-ameliorates-deficits-in-cognition-and-synaptic-plasticity-of-a-mouse-model-of-williams-beuren-syndrome
#18
Cristina Borralleras, Ignasi Sahun, Luis A Pérez-Jurado, Victoria Campuzano
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral phenotype. By characterizing the neuronal architecture in four animal models with intragenic, partial, and complete deletions of the WBS critical interval (ΔGtf2i(+/-), ΔGtf2i( -/-), PD, and CD), we clarify the involvement of Gtf2i in neurocognitive features. All mutant mice showed hypersociability, impaired motor learning and coordination, and altered anxiety-like behavior...
November 2015: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/25913238/novel-splice-variants-in-the-5-utr-of-gtf2i-expressed-in-the-rat-brain-alternative-5-utrs-and-differential-expression-in-the-neuronal-dendrites
#19
Yoshinori Shirai, Masahiko Watanabe, Hiroyuki Sakagami, Tatsuo Suzuki
General transcription factor II-I (Gtf2i) is a transcription factor and one of the genes implicated in Willams-Beuren syndrome, an autism spectrum disorder. In this study, we investigated splice variants of the Gtf2i gene in both the 5'untranslated region (5'UTR) and the coding region. To search for novel 5'UTRs of Gtf2i, we utilized the cap analysis gene expression database of the mouse. We identified seven novel Gtf2i transcripts with alternatively spliced 5'UTRs in the rat brain. We also identified four novel splice variants in the coding sequence of Gtf2i...
August 2015: Journal of Neurochemistry
https://www.readbyqxmd.com/read/25501393/7q11-23-dosage-dependent-dysregulation-in-human-pluripotent-stem-cells-affects-transcriptional-programs-in-disease-relevant-lineages
#20
Antonio Adamo, Sina Atashpaz, Pierre-Luc Germain, Matteo Zanella, Giuseppe D'Agostino, Veronica Albertin, Josh Chenoweth, Lucia Micale, Carmela Fusco, Christian Unger, Bartolomeo Augello, Orazio Palumbo, Brad Hamilton, Massimo Carella, Emilio Donti, Giancarlo Pruneri, Angelo Selicorni, Elisa Biamino, Paolo Prontera, Ronald McKay, Giuseppe Merla, Giuseppe Testa
Cell reprogramming promises to make characterization of the impact of human genetic variation on health and disease experimentally tractable by enabling the bridging of genotypes to phenotypes in developmentally relevant human cell lineages. Here we apply this paradigm to two disorders caused by symmetrical copy number variations of 7q11.23, which display a striking combination of shared and symmetrically opposite phenotypes--Williams-Beuren syndrome and 7q-microduplication syndrome. Through analysis of transgene-free patient-derived induced pluripotent stem cells and their differentiated derivatives, we find that 7q11...
February 2015: Nature Genetics
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