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Bcl11a

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https://www.readbyqxmd.com/read/28589569/identification-of-novel-bcl11a-variants-in-patients-with-epileptic-encephalopathy-expanding-the-phenotypic-spectrum
#1
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
https://www.readbyqxmd.com/read/28573701/molecular-and-clinical-delineation-of-2p15p16-1-microdeletion-syndrome
#2
Jonathan Lévy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Géraldine Viot, Sandrine Passemard, Yline Capri, Séverine Drunat, Alain Verloes, Eva Pipiras, Brigitte Benzacken, Jean-Michel Dupont, Anne-Claude Tabet
Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects. It is defined as a contiguous gene syndrome and two critical regions have been proposed at 2p15 and 2p16.1 loci. Nevertheless, patients with deletion of both critical regions shared similar features of the phenotype and the correlation genotype-phenotype is still unclear...
June 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544358/the-expression-pattern-of-bcl11a-mdm2-and-pten-genes-in-b-cell-acute-lymphoblastic-leukemia
#3
Ling Xu, Hong Wu, Xiuli Wu, Yangqiu Li, Dongmei He
AIM: Bcl11a is closely associated with B-cell lymphoma and B-cell chronic lymphocytic leukemia. However, little is known about the expression character of Bcl11a gene in B-cell acute lymphoblastic leukemia (B-ALL). In previous study, our results showed there was a clear dysregulation in the global gene expression of the Bcl11a-suppressed B lymphoma cells. The aim of the study is to further evaluate the role of Bcl11a and the expression level of its related genes Mdm2, Pten in B-ALL patients...
May 24, 2017: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28474731/a-new-gene-expression-signature-for-triple-negative-breast-cancer-using-frozen-fresh-tissue-before-neoadjuvant-chemotherapy
#4
Sandra Karina Santuario-Facio, Servando Cardona-Huerta, Yadira Xitlalli Perez-Paramo, Victor Trevino, Francisco Hernandez-Cabrera, Augusto Rojas-Martinez, Grecia Uscanga-Perales, Jorge Luis Martinez-Rodriguez, Lizeth Martinez-Jacobo, Gerardo Padilla-Rivas, Gerardo Muñoz-Maldonado, Juan Francisco Gonzalez-Guerrero, Javier Valero-Gomez, Ana Lorena Vazquez-Guerrero, Herminia Guadalupe Martinez-Rodriguez, Alvaro Barboza-Quintana, Oralia Barboza-Quintana, Raquel Garza-Guajardo, Rocio Ortiz-Lopez
Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer tumors. Comparisons between TNBC and non-triple negative breast cancer (nTNBC) may help to differentiate key components involved in TNBC neoplasms. The purpose of the study was to analyze the expression profile of TNBC versus nTNBC tumors in a homogeneous population from northeastern Mexico. A prospective study of 50 patients was conducted (25 TNBC and 25 nTNBC). Clinic parameters were equally distributed for TNBC and nTNBC: age at diagnosis (51 vs 47 years, p=0...
May 4, 2017: Molecular Medicine
https://www.readbyqxmd.com/read/28445112/tracking-the-evolution-of-non-small-cell-lung-cancer
#5
Mariam Jamal-Hanjani, Gareth A Wilson, Nicholas McGranahan, Nicolai J Birkbak, Thomas B K Watkins, Selvaraju Veeriah, Seema Shafi, Diana H Johnson, Richard Mitter, Rachel Rosenthal, Max Salm, Stuart Horswell, Mickael Escudero, Nik Matthews, Andrew Rowan, Tim Chambers, David A Moore, Samra Turajlic, Hang Xu, Siow-Ming Lee, Martin D Forster, Tanya Ahmad, Crispin T Hiley, Christopher Abbosh, Mary Falzon, Elaine Borg, Teresa Marafioti, David Lawrence, Martin Hayward, Shyam Kolvekar, Nikolaos Panagiotopoulos, Sam M Janes, Ricky Thakrar, Asia Ahmed, Fiona Blackhall, Yvonne Summers, Rajesh Shah, Leena Joseph, Anne M Quinn, Phil A Crosbie, Babu Naidu, Gary Middleton, Gerald Langman, Simon Trotter, Marianne Nicolson, Hardy Remmen, Keith Kerr, Mahendran Chetty, Lesley Gomersall, Dean A Fennell, Apostolos Nakas, Sridhar Rathinam, Girija Anand, Sajid Khan, Peter Russell, Veni Ezhil, Babikir Ismail, Melanie Irvin-Sellers, Vineet Prakash, Jason F Lester, Malgorzata Kornaszewska, Richard Attanoos, Haydn Adams, Helen Davies, Stefan Dentro, Philippe Taniere, Brendan O'Sullivan, Helen L Lowe, John A Hartley, Natasha Iles, Harriet Bell, Yenting Ngai, Jacqui A Shaw, Javier Herrero, Zoltan Szallasi, Roland F Schwarz, Aengus Stewart, Sergio A Quezada, John Le Quesne, Peter Van Loo, Caroline Dive, Allan Hackshaw, Charles Swanton
BACKGROUND: Among patients with non-small-cell lung cancer (NSCLC), data on intratumor heterogeneity and cancer genome evolution have been limited to small retrospective cohorts. We wanted to prospectively investigate intratumor heterogeneity in relation to clinical outcome and to determine the clonal nature of driver events and evolutionary processes in early-stage NSCLC. METHODS: In this prospective cohort study, we performed multiregion whole-exome sequencing on 100 early-stage NSCLC tumors that had been resected before systemic therapy...
June 1, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28410882/epo-reprograms-the-epigenome-of-erythroid-cells
#6
Andrea A Perreault, Mary Lauren Benton, Mark J Koury, Stephen J Brandt, Bryan J Venters
The hormone erythropoietin (Epo) is required for erythropoiesis, yet its molecular mechanism of action remains poorly understood, particularly with respect to chromatin dynamics. To investigate how Epo modulates the erythroid epigenome, we performed epigenetic profiling using an ex vivo murine cell system that undergoes synchronous erythroid maturation in response to Epo stimulation. Our findings define the repertoire of Epo-modulated enhancers, illuminating a new facet of Epo signaling. First, a large number of enhancers rapidly responded to Epo stimulation, revealing a cis-regulatory network of Epo-responsive enhancers...
July 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28361591/genetic-variants-at-bcl11a-and-hbs1l-myb-loci-influence-hb-f-levels-in-chinese-zhuang-%C3%AE-thalassemia-intermedia-patients
#7
Yunli Lai, Yun Chen, Biyan Chen, Haiyang Zheng, Sheng Yi, Guojian Li, Hongwei Wei, Sheng He, Chenguang Zheng
Increased Hb F levels can ameliorate the symptoms of β-thalassemia (β-thal). Due to the genetic heterogenicity of β-thal, the relationship between genetic variants in modifier genes and Hb F level has been studied in different populations. The Chinese Zhuang has the second largest population in China and has 6.78% prevalence of β-thal. However, the effects of these single nucleotide polymorphism (SNP) variants on the Hb F levels of β-thal intermedia (β-TI) patients in this population have not been reported...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28344999/long-term-engraftment-and-fetal-globin-induction-upon-bcl11a-gene-editing-in-bone-marrow-derived-cd34-hematopoietic-stem-and-progenitor-cells
#8
Kai-Hsin Chang, Sarah E Smith, Timothy Sullivan, Kai Chen, Qianhe Zhou, Jason A West, Mei Liu, Yingchun Liu, Benjamin F Vieira, Chao Sun, Vu P Hong, Mingxuan Zhang, Xiao Yang, Andreas Reik, Fyodor D Urnov, Edward J Rebar, Michael C Holmes, Olivier Danos, Haiyan Jiang, Siyuan Tan
To develop an effective and sustainable cell therapy for sickle cell disease (SCD), we investigated the feasibility of targeted disruption of the BCL11A gene, either within exon 2 or at the GATAA motif in the intronic erythroid-specific enhancer, using zinc finger nucleases in human bone marrow (BM) CD34(+) hematopoietic stem and progenitor cells (HSPCs). Both targeting strategies upregulated fetal globin expression in erythroid cells to levels predicted to inhibit hemoglobin S polymerization. However, complete inactivation of BCL11A resulting from bi-allelic frameshift mutations in BCL11A exon 2 adversely affected erythroid enucleation...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28332727/protective-bcl11a-and-hbs1l-myb-polymorphisms-in-a-cohort-of-102-congolese-patients-suffering-from-sickle-cell-anemia
#9
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, Aimé Zola Lumaka, Didine Kinkodi Kaba, Koenraad Devriendt, Gert Matthijs, Jean Marie Mbuyi Muamba, Valérie Race
BACKGROUND: We aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients. METHODS: A preliminary cross-sectional study was conducted in 102 patients. Group 1 was composed of patients with HPFH and Group 2 consisted of patients without HbF. We assessed 8 SNPs previously associated with HPFH in cohorts genetically close to the Congolese population. Observed frequencies were compared to expected frequencies...
March 23, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28303002/reciprocal-regulation-of-%C3%AE-globin-expression-by-exo-mirnas-relevance-to-%C3%AE-globin-silencing-in-%C3%AE-thalassemia-major
#10
Kuo-Ting Sun, Yu-Nan Huang, Kalaiselvi Palanisamy, Shih-Sheng Chang, I-Kuan Wang, Kang-Hsi Wu, Ping Chen, Ching-Tien Peng, Chi-Yuan Li
Induction of fetal hemoglobin (HbF) is a promising strategy in the treatment of β-thalassemia major (β-TM). The present study shows that plasma exosomal miRNAs (exo-miRs) are involved in γ-globin regulation. Exosomes shuttle miRNAs and mediate cell-cell communication. MiRNAs are regulators of biological processes through post-transcriptional targeting. Compared to HD (Healthy Donor), β-TM patients showed increased levels of plasma exosomes and the majority of exosomes had cellular origin from CD34+ cells...
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28280727/existence-of-hbf-enhancer-haplotypes-at-hbs1l-myb-intergenic-region-in-transfusion-dependent-saudi-%C3%AE-thalassemia-patients
#11
Cyril Cyrus, Chittibabu Vatte, J Francis Borgio, Abdullah Al-Rubaish, Shahanas Chathoth, Zaki A Nasserullah, Sana Al Jarrash, Ahmed Sulaiman, Hatem Qutub, Hassan Alsaleem, Alhusain J Alzahrani, Martin H Steinberg, Amein K Al Ali
Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28225775/genetic-polymorphisms-and-plasma-levels-of-bcl11a-contribute-to-the-development-of-laryngeal-squamous-cell-carcinoma
#12
Jian Zhou, Yue Yang, Duo Zhang, Liang Zhou, Lei Tao, Li-Ming Lu
OBJECTIVE: We investigated the association between B-cell lymphoma/leukaemia 11A (BCL11A) rs11886868 and rs4671393 polymorphism, plasma BCL11A concentration, and the hazard of developing laryngeal squamous cell carcinoma (LSCC). PARTICIPANTS AND METHOD: In this research, 330 LSCC patients, 310 healthy controls, and 155 vocal leukoplakia patients were genotyped for the BCL11A (rs11886868 C/T and rs4671393 A/G) genotypes by pyrosequencing; the BCL11A concentration was measured using ELISA...
2017: PloS One
https://www.readbyqxmd.com/read/28190778/genome-editing-for-sickle-cell-disease-a-little-bcl11a-goes-a-long-way
#13
EDITORIAL
Mir A Hossain, Jörg Bungert
No abstract text is available yet for this article.
March 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28164500/high-bcl11a-expression-in-adult-acute-myeloid-leukemia-patients-predicts-a-worse-clinical-outcome
#14
Huijuan Dong, Pengcheng Shi, Yong Zhou, Yong Yu, Xutao Guo, Yao Yao, Pengtao Liu, Bing Xu
BACKGROUND: Recent reports showed BCL11A may be causatively involved in myeloid leukemia. This study investigated the relationship between BCL11A expression levels and adult acute myeloid leukemia patient characteristics as well as clinical outcomes. METHODS: RT-PCR was employed to detect BCL11A gene expression levels in 80 patients with acute myeloid leukemia. RESULTS: Median BCL11A expression levels of 80 AML bone marrow samples were found to be higher than the control group (0...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28160732/the-association-between-four-snps-rs7482144-rs4671393-rs28384513-and-rs4895441-and-fetal-hemoglobin-levels-in-chinese-zhuang-%C3%AE-thalassemia-intermedia-patients
#15
Yunli Lai, Lin Zhou, Sheng Yi, Yun Chen, Yanqing Tang, Shang Yi, Ze Yang, Hongwei Wei, Chenguang Zheng, Sheng He
Four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) associated with HbF levels have been identified in different populations worldwide. To explore whether these SNPs modulate HbF expression in Chinese Zhuang population, 436 Chinese Zhuang β-thalassemia intermedia (β-TI) patients were divided into high HbF level group (mean HbF=25.5%, n=218) and low group (mean HbF=6.51%, n=218) for genotyping using PCR-HRM method. Results demonstrated that there was a significantly higher minor allele frequency (MAF=34...
January 25, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28060419/a-molecular-roadmap-of-definitive-erythropoiesis-from-human-induced-pluripotent-stem-cells
#16
Muhammad A Razaq, Stephen Taylor, David J Roberts, Lee Carpenter
Human induced pluripotent stem cells (hiPSCs) are being considered for use in understanding haematopoietic disorders and as a potential source of in vitro manufactured red cells. Here, we show that hiPSCs are able to recapitulate various stages of developmental erythropoiesis. We show that primitive erythroblasts arise first, express CD31(+) with CD235a(+) , embryonic globins and red cell markers, but fail to express the hallmark red cell transcripts of adult erythropoiesis. When hiPSC-derived CD45(+) CD235a(-) haematopoietic progenitors are isolated on day 12 and further differentiated on OP9 stroma, they selectively express CD36(+) and CD235a(+) , adult erythroid transcripts for transcription factors (e...
March 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28053695/study-on-hydroxyurea-response-in-hemoglobinopathies-patients-using-genetic-markers-and-liquid-erythroid-cultures
#17
Serena Sclafani, Alice Pecoraro, Veronica Agrigento, Antonio Troia, Rosario Di Maggio, Massimiliano Sacco, Aurelio Maggio, Elena D'Alcamo, Rosalba Di Marzo
Increased expression of fetal hemoglobin (HbF) may ameliorate the clinical course of hemoglobinopathies. Hydroxyurea (HU) is the only inducer approved for the treatment of these diseases able to stimulate HbF production but patients' response is highly variable indicating the utility of the identification of pharmacogenomic biomarkers in order to predict pharmacological treatment efficacy. To date few studies to evaluate the role of genetic determinants in HU response have been conducted showing contradictory results...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/27909215/cure-for-thalassemia-major-from-allogeneic-hematopoietic-stem-cell-transplantation-to-gene-therapy
#18
REVIEW
Alok Srivastava, Ramachandran V Shaji
Allogeneic hematopoietic stem cell transplantation has been well established for several decades as gene replacement therapy for patients with thalassemia major, and now offers very high rates of cure for patients who have access to this therapy. Outcomes have improved tremendously over the last decade, even in high-risk patients. The limited data available suggests that the long-term outcome is also excellent, with a >90% survival rate, but for the best results, hematopoietic stem cell transplantation should be offered early, before any end organ damage occurs...
February 2017: Haematologica
https://www.readbyqxmd.com/read/27884397/corrigendum-to-bcl11a-expression-in-acute-phase-chronic-myeloid-leukemia-leuk-res-47-2016-88-92
#19
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.
January 2017: 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
#20
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
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