keyword
MENU ▼
Read by QxMD icon Read
search

Bcl11a

keyword
https://www.readbyqxmd.com/read/27884397/corrigendum-to-bcl11a-expression-in-acute-phase-chronic-myeloid-leukemia-leuk-res-47-2016-88-92
#1
Jiawei Yin, Fan Zhang, Huiquan Tao, Xiao Ma, Guangsong Su, Xiaoli Xie, Zhongjuan Xu, Yanwen Zheng, Hong Liu, Chao He, Zhengwei Jenny Mao, Zhiwei Wang, Weirong Chang, Robert Peter Gale, Depei Wu, Bin Yin
No abstract text is available yet for this article.
November 21, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27872702/gamma-reactivation-using-the-spongy-effect-of-klf1-binding-site-sequence-an-approach-in-gene-therapy-for-beta-thalassemia
#2
Nasrin Heydari, Laleh Shariati, Hossein Khanahmad, Zahra Hejazi, Mansoureh Shahbazi, Mansoor Salehi
OBJECTIVES: β-thalassemia is one of the most common genetic disorders in the world. As one of the promising treatment strategies, fetal hemoglobin (Hb F) can be induced. The present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing KLF1 binding sites to the K562 cell line. MATERIALS AND METHODS: A plasmid containing a 192 bp sequence with two repeats of KLF1 binding sites on β-globin and BCL11A promoters was constructed and used to transfect the K562 cell line...
October 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/27861570/hmga2-moderately-increases-fetal-hemoglobin-expression-in-human-adult-erythroblasts
#3
Jaira F de Vasconcellos, Y Terry Lee, Colleen Byrnes, Laxminath Tumburu, Antoinette Rabel, Jeffery L Miller
Induction of fetal hemoglobin (HbF) has therapeutic importance for patients with beta-hemoglobin disorders. Previous studies showed that let-7 microRNAs (miRNAs) are highly regulated in erythroid cells during the fetal-to-adult developmental transition, and that targeting let-7 mediated the up-regulation of HbF to greater than 30% of the total globin levels in human adult cultured erythroblasts. HMGA2 is a member of the high-mobility group A family of proteins and a validated target of the let-7 family of miRNAs...
2016: PloS One
https://www.readbyqxmd.com/read/27835906/whole-exome-and-transcriptome-sequencing-of-refractory-diffuse-large-b-cell-lymphoma
#4
Ha Young Park, Seung-Bok Lee, Hae-Yong Yoo, Seok-Jin Kim, Won-Seog Kim, Jong-Il Kim, Young-Hyeh Ko
Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma. Although rituximab therapy improves clinical outcome, some patients develop resistant DLBCL; however, the genetic alterations in these patients are not well documented. To identify the genetic background of refractory DLBCL, we conducted whole-exome sequencing and transcriptome sequencing for six patients with refractory and seven with responsive DLBCL. The average numbers of pathogenic somatic single nucleotide variants and indels in coding regions were 71 in refractory patients (range 28-120) and 38 (range 19-66) in responsive patients...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27786413/dna-methylation-profiling-of-pediatric-b-cell-lymphoblastic-leukemia-with-kmt2a-rearrangement-identifies-hypomethylation-at-enhancer-sites
#5
Anke K Bergmann, Giancarlo Castellano, Julia Alten, Ole Ammerpohl, Julia Kolarova, Jessica Nordlund, Jose Ignacio Martin-Subero, Martin Schrappe, Reiner Siebert
Deregulation of the epigenome is an important pathogenetic mechanism in acute lymphoblastic leukemia (ALL) with lysine (K)-specific methyltransferase 2A rearrangement (KMT2Ar). We performed array-based DNA methylation profiling of KMT2Ar ALL cells from 26 children in comparison to normal B-cell precursors. Significant changes in DNA methylation in KMT2Ar ALL were identified in 2,545 CpG loci, influenced by age and the translocation partners AFF1 and MLLT1. In KMT2Ar ALL, DNA methylation loss was enriched at enhancers and for certain transcription factor binding sites such as BCL11A, EBF, and MEF2A...
October 27, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27782803/co-activator-candidate-interactions-for-orphan-nuclear-receptor-nr2e1
#6
Ximena Corso-Díaz, Charles N de Leeuw, Vivian Alonso, Diana Melchers, Bibiana K Y Wong, René Houtman, Elizabeth M Simpson
BACKGROUND: NR2E1 (Tlx) is an orphan nuclear receptor that regulates the maintenance and self-renewal of neural stem cells, and promotes tumourigenesis. Nr2e1-null mice exhibit reduced cortical and limbic structures and pronounced retinal dystrophy. NR2E1 functions mainly as a repressor of gene transcription in association with the co-repressors atrophin-1, LSD1, HDAC and BCL11A. Recent evidence suggests that NR2E1 also acts as an activator of gene transcription. However, co-activator complexes that interact with NR2E1 have not yet been identified...
October 26, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27774950/-knock-down-of-bcl11a-expression-in-breast-cancer-cells-promotes-mda-mb-231-cell-apoptosis
#7
Hongli Li, Chen Gui, Lijun Yan
Objective To detect the expression and pathological significance of B-cell CLL/lymphoma 11A (BCL11A) in breast cancer and investigate the effect of its silencing on the apoptosis of human MDA-MB-231 breast cancer cells. MethodsImmunohistochemistry was used to detect the expression of BCL11A in 62 cases of human breast cancer tissues and 8 cases of normal tissues. We synthesized siRNA targeting BCL11A, and then siRNA was transfected into MDA-MB-231 cells. Forty-eight hours later, the suppression effect of siRNA on BCL11A was determined by quantitative real-time PCR and Western blotting...
November 2016: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
https://www.readbyqxmd.com/read/27769165/distinct-gene-expression-program-dynamics-during-erythropoiesis-from-human-induced-pluripotent-stem-cells-compared-with-adult-and-cord-blood-progenitors
#8
Alison T Merryweather-Clarke, Alex J Tipping, Abigail A Lamikanra, Rui Fa, Basel Abu-Jamous, Hoi Pat Tsang, Lee Carpenter, Kathryn J H Robson, Asoke K Nandi, David J Roberts
BACKGROUND: Human-induced pluripotent stem cells (hiPSCs) are a potentially invaluable resource for regenerative medicine, including the in vitro manufacture of blood products. HiPSC-derived red blood cells are an attractive therapeutic option in hematology, yet exhibit unexplained proliferation and enucleation defects that presently preclude such applications. We hypothesised that substantial differential regulation of gene expression during erythroid development accounts for these important differences between hiPSC-derived cells and those from adult or cord-blood progenitors...
October 21, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27710960/molecular-understanding-of-non-transfusion-dependent-thalassemia-associated-with-hemoglobin-e-%C3%AE-thalassemia-in-northeast-thailand
#9
Supawadee Yamsri, Naruwat Pakdee, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen
Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined...
2016: Acta Haematologica
https://www.readbyqxmd.com/read/27707736/strict-in-vivo-specificity-of-the-bcl11a-erythroid-enhancer
#10
Elenoe C Smith, Sidinh Luc, Donyell M Croney, Mollie B Woodworth, Luciano C Greig, Yuko Fujiwara, Minh Nguyen, Falak Sher, Jeffrey D Macklis, Daniel E Bauer, Stuart H Orkin
BCL11A, a repressor of human fetal (γ-)globin expression, is required for immune and hematopoietic stem cell functions and brain development. Regulatory sequences within the gene, which are subject to genetic variation affecting fetal globin expression, display hallmarks of an erythroid enhancer in cell lines and transgenic mice. As such this enhancer is a novel, attractive target for therapeutic gene editing. To explore the roles of such sequences in vivo, we generated mice in which the orthologous 10 kb intronic sequences were removed...
October 5, 2016: Blood
https://www.readbyqxmd.com/read/27707011/a-multi-locus-approach-to-characterization-of-major-quantitative-trait-loci-influencing-hb-f-regulation-in-chinese-%C3%AE-thalassemia-carriers
#11
Nelson C N Chan, Kin-Mang Lau, Kelvin C K Cheng, Natalie P H Chan, Margaret H L Ng
Genetic association studies showed that Hb F is under the influence of major quantitative trait loci (QTL) in β-thalassemia (β-thal) carriers. Single nucleotide polymorphisms (SNPs) at three major QTLs, BCL11A, HBS1L-MYB intergenic region and XmnI-HBG2, were individually validated in univariate models. However, their relative effect sizes on Hb F regulation are unknown. We genotyped 99 Chinese β-thal carriers for the three major QTLs and performed genetic association studies using three different statistical models, including mass univariate analysis, multivariate linear regression and partial least square regression structural equation modeling (PLS-SEM)...
October 5, 2016: Hemoglobin
https://www.readbyqxmd.com/read/27699255/identifying-candidate-genes-for-2p15p16-1-microdeletion-syndrome-using-clinical-genomic-and-functional-analysis
#12
Hani Bagheri, Chansonette Badduke, Ying Qiao, Rita Colnaghi, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Jiadi Wen, Robert S Wildin, Malgorzata J M Nowaczyk, Jennifer Eichmeyer, Anna Lehman, Bruno Maranda, Sally Martell, Xianghong Shan, Suzanne M E Lewis, Mark O'Driscoll, Cheryl Y Gregory-Evans, Evica Rajcan-Separovic
The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. So far, more than 20 cases of 2p15p16.1 microdeletion syndrome have been reported in the literature; however, the size of the deletions and their breakpoints vary, making it difficult to identify the candidate genes. Recent reports pointed to 4 genes (XPO1, USP34, BCL11A, and REL) that were included, alone or in combination, in the smallest deletions causing the syndrome...
March 17, 2016: JCI Insight
https://www.readbyqxmd.com/read/27668420/genetic-disruption-of-the-klf1-gene-to-overexpress-gamma-globin-gene-using-crispr-cas9-system
#13
Laleh Shariati, Hossein Khanahmad, Mansoor Salehi, Zahra Hejazi, Ilnaz Rahimmaesh, Mohammad Amin Tabatabaiefar, Mohammad Hossein Modarressi
BACKGROUND: β-thalassemia is a major group of human genetic disorders which involves decrease or cease in the normal synthesis of the β-globin chains of hemoglobin. KLF1 is a key regulatory molecule involved in the γ to β-globin gene switching process directly inducing the expression of beta globin gene and indirectly repressing gamma globin. This study was performed to investigate the ability of an engineered CRISPR/Cas9 system to disrupt the KLF1 gene to inhibit the γ to β hemoglobin switching process in K562 cells...
September 26, 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27658436/apol1-alpha-thalassemia-and-bcl11a-variants-as-a-genetic-risk-profile-for-progression-of-chronic-kidney-disease-in-sickle-cell-anemia
#14
Santosh L Saraf, Binal N Shah, Xu Zhang, Jin Han, Bamidele O Tayo, Taimur Abbasi, Adam Ostrower, Elizabeth Guzman, Robert E Molokie, Michel Gowhari, Johara Hassan, Shivi Jain, Richard S Cooper, Roberto F Machado, James P Lash, Victor R Gordeuk
No abstract text is available yet for this article.
September 22, 2016: Haematologica
https://www.readbyqxmd.com/read/27636225/an-expert-review-of-pharmacogenomics-of-sickle-cell-disease-therapeutics-not-yet-ready-for-global-precision-medicine
#15
Khuthala Mnika, Gift D Pule, Collet Dandara, Ambroise Wonkam
Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. Vaso-occlusive painful crises are associated with recurrent and long-term use of analgesics/opioids and hydroxyurea (HU) by people living with SCD. The present analysis offers a state-of-the-art expert review of the effectiveness of pharmacogenomics/genetics of pain management in SCD, with specific focus on HU and opioids...
October 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27599293/lineage-specific-bcl11a-knockdown-circumvents-toxicities-and-reverses-sickle-phenotype
#16
Christian Brendel, Swaroopa Guda, Raffaele Renella, Daniel E Bauer, Matthew C Canver, Young-Jo Kim, Matthew M Heeney, Denise Klatt, Jonathan Fogel, Michael D Milsom, Stuart H Orkin, Richard I Gregory, David A Williams
Reducing expression of the fetal hemoglobin (HbF) repressor BCL11A leads to a simultaneous increase in γ-globin expression and reduction in β-globin expression. Thus, there is interest in targeting BCL11A as a treatment for β-hemoglobinopathies, including sickle cell disease (SCD) and β-thalassemia. Here, we found that using optimized shRNAs embedded within an miRNA (shRNAmiR) architecture to achieve ubiquitous knockdown of BCL11A profoundly impaired long-term engraftment of both human and mouse hematopoietic stem cells (HSCs) despite a reduction in nonspecific cellular toxicities...
October 3, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27591578/modulation-of-fetal-hemoglobin-in-hereditary-persistence-of-fetal-hemoglobin-deletion-type-2-compared-to-sicilian-%C3%AE-%C3%AE-thalassemia-by-bcl11a-and-sox6-targeting-micrornas
#17
Thais A Fornari, Carolina Lanaro, Dulcinéia M Albuquerque, Regiane Ferreira, Fernando F Costa
Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δβ-thalassemia are conditions described as large deletions of the human β-like globin cluster, with absent β-globin chains and a compensatory variable increase in γ-globin. HPFH, in general, may be distinguished from DB-Thalassemia by higher fetal hemoglobin (HbF) levels, absence of anemia and hypochromic and microcytic erythrocytes. MicroRNAs (miRNAs) regulate a range of cellular processes including erythropoiesis and regulation of transcription factors such as the BCL11A and SOX6 genes, which are related to the regulation of γ-globin expression...
September 3, 2016: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27573292/inhibition-of-foxq1-induces-apoptosis-and-suppresses-proliferation-in-prostate-cancer-cells-by-controlling-bcl11a-mdm2-expression
#18
Xiang Zhang, Lijuan Wang, Yingmei Wang, Shenjia Shi, Huayu Zhu, Fengjin Xiao, Jing Yang, Angang Yang, Xiaoke Hao
Forkhead box Q1 (FOXQ1) has been recognized as an oncogene that is overexpressed in different cancers, and several studies have shown that FOXQ1 is related to apoptosis and proliferation in many cancer types. However, the role and the molecular mechanism of FOXQ1 in prostate cancer remains unclear. In this study, we aimed to explore the role of FOXQ1 in regulating cell apoptosis, proliferation and invasion in prostate cancer and the underlying mechanism. We found that FOXQ1 was highly expressed in the prostate cancer tissues and cell lines...
October 2016: Oncology Reports
https://www.readbyqxmd.com/read/27501013/a-candidate-transacting-modulator-of-fetal-hemoglobin-gene-expression-in-the-arab-indian-haplotype-of-sickle-cell-anemia
#19
Vinod Vathipadiekal, John J Farrell, Shuai Wang, Heather L Edward, Heather Shappell, A M Al-Rubaish, Fahad Al-Muhanna, Z Naserullah, A Alsuliman, Hatem Othman Qutub, Irene Simkin, Lindsay A Farrer, Zhihua Jiang, Hong-Yuan Luo, Shengwen Huang, Gustavo Mostoslavsky, George J Murphy, Pradeep K Patra, David H K Chui, Abdulrahman Alsultan, Amein K Al-Ali, Paola Sebastiani, Martin H Steinberg
Fetal hemoglobin (HbF) levels are higher in the Arab-Indian (AI) β-globin gene haplotype of sickle cell anemia compared with African-origin haplotypes. To study genetic elements that effect HbF expression in the AI haplotype we completed whole genome sequencing in 14 Saudi AI haplotype sickle hemoglobin homozygotes-seven selected for low HbF (8.2% ± 1.3%) and seven selected for high HbF (23.5% ± 2.6%). An intronic single nucleotide polymorphism (SNP) in ANTXR1, an anthrax toxin receptor (chromosome 2p13), was associated with HbF...
August 7, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27453576/bcl11a-haploinsufficiency-causes-an-intellectual-disability-syndrome-and-dysregulates-transcription
#20
Cristina Dias, Sara B Estruch, Sarah A Graham, Jeremy McRae, Stephen J Sawiak, Jane A Hurst, Shelagh K Joss, Susan E Holder, Jenny E V Morton, Claire Turner, Julien Thevenon, Kelly Mellul, Gabriela Sánchez-Andrade, Ximena Ibarra-Soria, Pelagia Deriziotis, Rui F Santos, Song-Choon Lee, Laurence Faivre, Tjitske Kleefstra, Pentao Liu, Mathew E Hurles, Simon E Fisher, Darren W Logan
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects...
August 4, 2016: American Journal of Human Genetics
keyword
keyword
8912
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"