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https://www.readbyqxmd.com/read/29044125/transcription-factor-ctip1-bcl11a-regulates-epidermal-differentiation-and-lipid-metabolism-during-skin-development
#1
Shan Li, Amy Teegarden, Emily M Bauer, Jaewoo Choi, Nadia Messaddeq, David A Hendrix, Gitali Ganguli-Indra, Mark Leid, Arup K Indra
The epidermal permeability barrier (EPB) prevents organisms from dehydration and infection. The transcriptional regulation of EPB development is poorly understood. We demonstrate here that transcription factor COUP-TF-interacting protein 1 (CTIP1/BCL11A; hereafter CTIP1) is highly expressed in the developing murine epidermis. Germline deletion of Ctip1 (Ctip1 (-/-)) results in EPB defects accompanied by compromised epidermal differentiation, drastic reduction in profilaggrin processing, reduced lamellar bodies in granular layers and significantly altered lipid composition...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29038163/bcl11a-is-a-critical-component-of-a-transcriptional-network-that-activates-rag-expression-and-vdj-recombination
#2
Baeck-Seung Lee, Bum-Kyu Lee, Vishwanath R Iyer, Barry P Sleckman, Arthur L Shaffer, Gregory C Ippolito, Haley O Tucker, Joseph D Dekker
Recombination activating gene 1 (RAG1) and RAG2 are critical enzymes for initiating variable-diversity-joining (VDJ) segment recombination, an essential process for antigen receptor expression and lymphocyte development. The BCL11A transcription factor is required for B cell and Plasmacytoid dendritic cell (pDC) development, but its molecular function(s) in early B cell fate specification and commitment are unknown. We show here that the major B cell isoform, BCL11A-XL, binds directly to the RAG1 promoter as well as directly to regulatory regions of transcription factors previously implicated in both B cell and pDC development to activate RAG1 and RAG2 transcription in pro- and pre-B cells...
October 16, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29030471/retraction-for-lee-et-al-the-bcl11a-transcription-factor-directly-activates-rag-gene-expression-and-v-d-j-recombination
#3
Baeck-Seung Lee, Joseph D Dekker, Bum-Kyu Lee, Vishwanath R Iyer, Barry P Sleckman, Arthur L Shaffer, Gregory C Ippolito, Philip W Tucker
No abstract text is available yet for this article.
November 1, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29018799/truseq-based-gene-expression-analysis-of-formalin-fixed-paraffin-embedded-ffpe-cutaneous-t-cell-lymphoma-samples-subgroup-analysis-results-and-elucidation-of-biases-from-ffpe-sample-processing-on-the-truseq-platform
#4
Philippe Lefrançois, Michael T Tetzlaff, Linda Moreau, Andrew K Watters, Elena Netchiporouk, Nathalie Provost, Martin Gilbert, Xiao Ni, Denis Sasseville, Madeleine Duvic, Ivan V Litvinov
Cutaneous T-cell lymphomas (CTCLs) are a heterogeneous group of malignancies with courses ranging from indolent to potentially lethal. We recently studied in a 157 patient cohort gene expression profiles generated by the TruSeq targeted RNA gene expression sequencing. We observed that the sequencing library quality and depth from formalin-fixed paraffin-embedded (FFPE) skin samples were significantly lower when biopsies were obtained prior to 2009. We also observed that the fresh CTCL samples clustered together, even though they included stage I-IV disease...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28981154/variation-in-swi-snf-chromatin-remodeling-complex-proteins-is-associated-with-alcohol-dependence-and-antisocial-behavior-in-human-populations
#5
Laura D Mathies, Fazil Aliev, Andrew G Davies, Danielle M Dick, Jill C Bettinger
BACKGROUND: Testing for direct gene/SNP replication of association across studies may not capture the true importance of a candidate locus; rather, we suggest that relevant replication across studies may be found at the level of a biological process. We previously observed that variation in two members of the SWI/SNF chromatin remodeling complex is associated with alcohol dependence (AD) in the Irish Affected Sib Pair Study for Alcohol Dependence. Here, we tested for association with alcohol-related outcomes using a set of genes functioning in the SWI/SNF complex in two independent samples...
October 5, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28971909/hydroxyurea-differentially-modulates-activator-and-repressors-of-%C3%AE-globin-gene-in-erythroblasts-of-responsive-and-non-responsive-patients-with-sickle-cell-disease-in-correlation-with-index-of-hydroxyurea-responsiveness
#6
Xingguo Zhu, Tianxiang Hu, Meng Hsuan Ho, Yongchao Wang, Miao Yu, Niren Patel, Wenhu Pi, Jeong-Hyeon Choi, Hongyan Xu, Ferdane Kutlar, Vadivel Ganapathy, Abdullah Kutlar, Dorothy Tuan
Hydroxyurea, the first of two drugs approved by Food and Drug Administration for treating patients with sickle cell disease, produces anti-sickling effect by re-activating fetal γ-globin gene to enhance production of fetal hemoglobin. However, ~30% of the patients do not respond to hydroxyurea therapy. The molecular basis of non-responsiveness to hydroxyurea is not clearly understood. To address this question, we examined hydroxyurea-induced changes in the RNA and protein levels of transcription factors NF-Y, GATA-1, -2, BCL11A, TR4, MYB and NF-E4 that assemble the γ-globin promoter complex and regulate transcription of γ-globin gene...
September 29, 2017: Haematologica
https://www.readbyqxmd.com/read/28960836/bcl11a-frameshift-mutation-associated-with-dyspraxia-and-hypotonia-affecting-the-fine-gross-oral-and-speech-motor-systems
#7
Julie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, Julie Cano-Chervel, Simon Baijot, Karin Pelc, Martine Sottiaux, Catheline Vilain, Guillaume Smits, Nicolas Deconinck
We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16...
September 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28916711/comparative-analysis-of-three-dimensional-chromosomal-architecture-identifies-a-novel-fetal-hemoglobin-regulatory-element
#8
Peng Huang, Cheryl A Keller, Belinda Giardine, Jeremy D Grevet, James O J Davies, Jim R Hughes, Ryo Kurita, Yukio Nakamura, Ross C Hardison, Gerd A Blobel
Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and found that, globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detected distinct folding patterns at the developmentally controlled β-globin locus. Specifically, new fetal stage-specific contacts were uncovered between a region separating the fetal (γ) and adult (δ and β) globin genes (encompassing the HBBP1 and BGLT3 noncoding genes) and two distal chromosomal sites (HS5 and 3'HS1) that flank the locus...
August 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28868518/associations-of-%C3%AE-thalassemia-and-bcl11a-with-stroke-in-nigerian-united-states-and-united-kingdom-sickle-cell-anemia-cohorts
#9
Santosh L Saraf, Titilola S Akingbola, Binal N Shah, Chinedu A Ezekekwu, Omowunmi Sonubi, Xu Zhang, Lewis L Hsu, Mark T Gladwin, Roberto F Machado, Richard S Cooper, Victor R Gordeuk, Bamidele O Tayo
Alpha-thalassemia and the BCL11A rs1427407 T allele are commonly observed in sickle cell anemia (SCA) patients and are associated with reduced hemolysis and higher hemoglobin F levels, respectively. We investigated whether a high-risk genetic profile, defined as SCA patients who did not inherit either α-thalassemia or the BCL11A rs1427407 T allele, had stronger associations with clinical and laboratory variables than the individual genetic components in the University of Ibadan cohort (n=249). We then replicated our findings in SCA cohorts from the University of Illinois at Chicago (UIC)(n=260) and Walk-Treatment of Pulmonary Hypertension and Sickle cell disease with Sildenafil Therapy (Walk-PHaSST)(n=387)...
April 25, 2017: Blood Advances
https://www.readbyqxmd.com/read/28851297/an-a%C3%AE-globin-g-a-gene-polymorphism-associated-with-%C3%AE-0-39-thalassemia-globin-gene-and-high-fetal-hemoglobin-production
#10
Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti, Roberto Gambari
BACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea)...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28845406/in-vitro-hb-production-in-b-thalassemia-patients-is-not-a-predictor-of-clinical-responsiveness-to-hydroxyurea
#11
Mohammad Reza Mahdavi, Farzin Pourfarzad, Mehrnoush Kosaryan, Mohammad Taghi Akbari
BACKGROUND: The hematologic response to hydroxyurea (HU) is varied among β-thalassemia (BT) patients. The BCL11A and SOX6 genes are involved in response to HU. This study aimed to investigate the in-vitro responsiveness of HU among BT major patients homozygote for IVSII-1G>A mutation and XmnI single nucleotide polymorphism (SNP) in order to find whether the in-vitro Hb concentration is a predictor of clinical (HU) responsiveness. METHODS: In this case-control study, twenty BT patients homozygote for IVSII-1G>A mutation and XmnI SNP from Thalassemia Research Center, Sari, Iran in 2015 were selected and categorized into two groups of 10 Responder (R) and 10 Non-Responder (NR) according to their clinical HU response...
July 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28776729/sirt1-activates-the-expression-of-fetal-hemoglobin-genes
#12
Yan Dai, Tyngwei Chen, Heba Ijaz, Elizabeth H Cho, Martin H Steinberg
High fetal hemoglobin (HbF, α2 γ2 ) levels ameliorate the clinical manifestations of sickle cell disease and β thalassemia. The mechanisms that repress HbF expression and silence γ-globin genes in adults are incompletely characterized and only a single HbF inducer, hydroxyurea, is approved for treatment, and only in patients with sickle cell disease. We identified SIRT1, a protein deacetylase, as a new inducer of γ-globin. SIRT1 knockdown decreased, while SIRT1 ectopic expression upregulated γ-globin gene (HBG) expression in primary human erythroid cells and in K562 cells...
November 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28768505/tough-decoy-targeting-of-predominant-let-7-mirna-species-in-adult-human-hematopoietic-cells
#13
Jaira F de Vasconcellos, Colleen Byrnes, Y Terry Lee, Joshua M Allwardt, Megha Kaushal, Antoinette Rabel, Jeffery L Miller
BACKGROUND: In humans, the heterochronic cascade composed of the RNA-binding protein LIN28 and its major target, the let-7 family of microRNAs (miRNAs), is highly regulated during human erythroid ontogeny. Additionally, down-regulation of the let-7 miRNAs in cultured adult CD34(+) cells or the over-expression of LIN28 in cultured erythrocytes from pediatric patients with HbSS genotype causes increased levels of fetal hemoglobin (HbF) in the range of 19-40% of the total. Therefore, we hypothesized that focused targeting of individual let-7 miRNA family members would exhibit regulatory effect on HbF expression in human adult erythroblasts...
August 2, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28749240/epigenetic-dysregulation-of-the-erythropoietic-transcription-factor-klf1-and-the-%C3%AE-like-globin-locus-in-juvenile-myelomonocytic-leukemia
#14
Silvia Fluhr, Christopher Felix Krombholz, Angelina Meier, Thomas Epting, Oliver Mücke, Christoph Plass, Charlotte M Niemeyer, Christian Flotho
Increased levels of fetal hemoglobin (HbF) are a hallmark of more than half of the children diagnosed with juvenile myelomonocytic leukemia (JMML). Elevated HbF levels in JMML are associated with DNA hypermethylation of distinct gene promoter regions in leukemic cells. Since the regulation of globin gene transcription is known to be under epigenetic control, we set out to study the relation of DNA methylation patterns at β-/γ-globin promoters, mRNA and protein expression of globins, and epigenetic modifications of genes encoding the globin-regulatory transcription factors BCL11A and KLF1 in nucleated erythropoietic precursor cells of patients with JMML...
July 27, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#15
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28694195/hemoglobins-emerging-roles-in-mental-disorders-metabolical-genetical-and-immunological-aspects
#16
REVIEW
Meric A Altinoz, Bahri Ince
Hemoglobin (Hb) expression in the central nervous system is recently shown. Cooccurences of mental disorders (mainly bipolar disorder (BD) and tic disorders) with β- or α-thalassemia trait or erythrocytosis were witnessed, which may be due to peripheral or central hypoxia/hyperoxia or haplotypal gene interactions. β-Globin genes reside at 11p15.5 close to tyrosine hydroxylase, dopamine receptor DRD4 and Brain Derived Neurotrophic Factor, which involve in psychiatric diseases. α-Globin genes reside at 16p13...
October 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28652347/igf2bp1-overexpression-causes-fetal-like-hemoglobin-expression-patterns-in-cultured-human-adult-erythroblasts
#17
Jaira F de Vasconcellos, Laxminath Tumburu, Colleen Byrnes, Y Terry Lee, Pauline C Xu, May Li, Antoinette Rabel, Benjamin A Clarke, Nicholas R Guydosh, Richard L Proia, Jeffery L Miller
Here we investigated in primary human erythroid tissues a downstream element of the heterochronic let-7 miRNA pathway, the insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1), for its potential to affect the hemoglobin profiles in human erythroblasts. Comparison of adult bone marrow to fetal liver lysates demonstrated developmental silencing in IGF2BP1. Erythroid-specific overexpression of IGF2BP1 caused a nearly complete and pancellular reversal of the adult pattern of hemoglobin expression toward a more fetal-like phenotype...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28651846/molecular-basis-of-%C3%AE-thalassemia-and-potential-therapeutic-targets
#18
REVIEW
Swee Lay Thein
The remarkable phenotypic diversity of β thalassemia that range from severe anemia and transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of disease severity can be generated in single gene disorders. While the genetic basis for β thalassemia, and how severity of the anemia could be modified at different levels of its pathophysiology have been well documented, therapy remains largely supportive with bone marrow transplant being the only cure. Identification of the genetic variants modifying fetal hemoglobin (HbF) production in combination with α globin genotype provide some prediction of disease severity for β thalassemia but generation of a personalized genetic risk score to inform prognosis and guide management requires a larger panel of genetic modifiers yet to be discovered...
June 20, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28639471/an-enhancer-haplotype-may-influence-bcl11a-expression-levels-and-the-response-to-hydroxyurea-in-%C3%AE-thalassemia-patients
#19
Nahal Maroofi, Azita Azarkeivan, Soosan Banihashemi, Saeid Mohammadparast, Ali Aghajanirefah, Mehdi Banan
AIM: To identify the BCL11A intron-2 enhancer linkage disequilibrium (LD) block, harboring two previously identified SNPs, associating with the hydroxyurea response in β-thalassemia patients and the functional significance of this region. MATERIALS & METHODS: Several neighboring SNPs were genotyped in our cohort. The associating LD block was identified, and its function studied in K562 erythroid cells via CRISPR/Cas9 genome editing. RESULTS: A haplotype harboring three tag SNPs correlated significantly with the HU-response and BCL11A transcript levels in the patients' reticulocytes...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28589569/identification-of-novel-bcl11a-variants-in-patients-with-epileptic-encephalopathy-expanding-the-phenotypic-spectrum
#20
Michiko Yoshida, Mitsuko Nakashima, Tohru Okanishi, Sotaro Kanai, Ayataka Fujimoto, Kazuya Itomi, Masafumi Morimoto, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Tomohiro Chiyonobu
BCL11A encodes a zinc finger protein that is highly expressed in hematopoietic tissues and the brain, and that is known to function as a transcriptional repressor of fetal hemoglobin (HbF). Recently, de novo variants in BCL11A have been reported in individuals with intellectual disability syndrome without epilepsy. In this study, we performed whole-exome sequencing of 302 patients with epileptic encephalopathies (EEs), and identified two novel BCL11A variants, c.577delC (p.His193Metfs*3) and c.2351A>C (p...
June 6, 2017: Clinical Genetics
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