Blood Cells Molecules and Diseases最新文献

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Bach1 inhibitor HPP-D mediates γ-globin gene activation in sickle erythroid progenitors. Bach1抑制剂HPP-D介导镰状红系祖细胞γ-珠蛋白基因活化。
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-08-01 DOI: 10.2139/ssrn.4355763
C. Palani, Xingguo Zhu, Manickam Alagar, Otis C. Attucks, B. Pace
{"title":"Bach1 inhibitor HPP-D mediates γ-globin gene activation in sickle erythroid progenitors.","authors":"C. Palani, Xingguo Zhu, Manickam Alagar, Otis C. Attucks, B. Pace","doi":"10.2139/ssrn.4355763","DOIUrl":"https://doi.org/10.2139/ssrn.4355763","url":null,"abstract":"Sickle cell disease (SCD) is the most common β-hemoglobinopathy caused by various mutations in the adult β-globin gene resulting in sickle hemoglobin production, chronic hemolytic anemia, pain, and progressive organ damage. The best therapeutic strategies to manage the clinical symptoms of SCD is the induction of fetal hemoglobin (HbF) using chemical agents. At present, among the Food and Drug Administration-approved drugs to treat SCD, hydroxyurea is the only one proven to induce HbF protein synthesis, however, it is not effective in all people. Therefore, we evaluated the ability of the novel Bach1 inhibitor, HPP-D to induce HbF in KU812 cells and primary sickle erythroid progenitors. HPP-D increased HbF and decreased Bach1 protein levels in both cell types. Furthermore, chromatin immunoprecipitation assay showed reduced Bach1 and increased NRF2 binding to the γ-globin promoter antioxidant response elements. We also observed increased levels of the active histone marks H3K4Me1 and H3K4Me3 supporting an open chromatin configuration. In primary sickle erythroid progenitors, HPP-D increased γ-globin transcription and HbF positive cells and reduced sickled erythroid progenitors under hypoxia conditions. Collectively, our data demonstrate that HPP-D induces γ-globin gene transcription through Bach1 inhibition and enhanced NRF2 binding in the γ-globin promoter antioxidant response elements.","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"104 1","pages":"102792"},"PeriodicalIF":2.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49536042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19 SARS-CoV-2感染和COVID-19血液学参数的遗传检测
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-20 DOI: 10.1016/j.bcmd.2023.102782
Quan Sun , Bryce Rowland , Wanjiang Wang , Tyne W. Miller-Fleming , Nancy Cox , Misa Graff , Annika Faucon , Megan M. Shuey , Elizabeth E. Blue , Paul Auer , Yun Li , Vijay G. Sankaran , Alexander P. Reiner , Laura M. Raffield
{"title":"Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19","authors":"Quan Sun ,&nbsp;Bryce Rowland ,&nbsp;Wanjiang Wang ,&nbsp;Tyne W. Miller-Fleming ,&nbsp;Nancy Cox ,&nbsp;Misa Graff ,&nbsp;Annika Faucon ,&nbsp;Megan M. Shuey ,&nbsp;Elizabeth E. Blue ,&nbsp;Paul Auer ,&nbsp;Yun Li ,&nbsp;Vijay G. Sankaran ,&nbsp;Alexander P. Reiner ,&nbsp;Laura M. Raffield","doi":"10.1016/j.bcmd.2023.102782","DOIUrl":"10.1016/j.bcmd.2023.102782","url":null,"abstract":"<div><p><span><span>People hospitalized with COVID-19 often exhibit altered hematological traits associated with disease prognosis (e.g., lower lymphocyte and platelet counts). We investigated whether inter-individual variability in baseline hematological traits influences risk of acute SARS-CoV-2 infection or progression to severe COVID-19. We report inconsistent associations between blood cell traits with incident SARS-CoV-2 infection and severe COVID-19 in UK Biobank and the Vanderbilt University Medical Center Synthetic Derivative (VUMC SD). Since genetically determined blood cell measures better represent cell abundance across the lifecourse, we also assessed the shared genetic architecture of baseline blood cell traits on COVID-19 related outcomes by </span>Mendelian randomization (MR) analyses. We found significant relationships between COVID-19 severity and mean sphered cell volume after adjusting for multiple testing. However, MR results differed significantly across different freezes of COVID-19 summary statistics and genetic correlation between these traits was modest (0.1), decreasing our confidence in these results. We observed overlapping genetic association signals between other hematological and COVID-19 traits at specific loci such as </span><span><em>MAPT</em></span> and <span><em>TYK2</em></span>. In conclusion, we did not find convincing evidence of relationships between the genetic architecture of blood cell traits and either SARS-CoV-2 infection or COVID-19 hospitalization, though we do see evidence of shared signals at specific loci.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"103 ","pages":"Article 102782"},"PeriodicalIF":2.3,"publicationDate":"2023-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10507673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10012396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1 下一代测序(NGS)在解读红细胞分子缺陷与红细胞疾病的关联方面的兴趣:PIEZO1, Spectrin ß1, RhAG和SLC4A1突变遗传患者的临床和红细胞表型
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-20 DOI: 10.1016/j.bcmd.2023.102780
Benoit Allegrini , Ludivine David NGuyen , Morgane Mignotet , Catherine Etchebest , Odile Fenneteau , Jessica Platon , Anne Lambilliotte , Hélène Guizouarn , Lydie Da Costa
{"title":"Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1","authors":"Benoit Allegrini ,&nbsp;Ludivine David NGuyen ,&nbsp;Morgane Mignotet ,&nbsp;Catherine Etchebest ,&nbsp;Odile Fenneteau ,&nbsp;Jessica Platon ,&nbsp;Anne Lambilliotte ,&nbsp;Hélène Guizouarn ,&nbsp;Lydie Da Costa","doi":"10.1016/j.bcmd.2023.102780","DOIUrl":"10.1016/j.bcmd.2023.102780","url":null,"abstract":"<div><p><span><span>We report here an instructive case referred at 16 months-old for exploration of hemolysis without anemia (compensated anemia with reticulocytosis). The biology tests confirmed the hemolysis with increased total and indirect bilirubin. The usual hemolysis diagnosis tests were normal (DAT, G6PD, PK, Hb electrophoresis) except </span>cytology<span> and ektacytometry suggesting an association of multiple red blood cell (RBC) membrane disorders. This led us to propose a molecular screening analysis using targeted-Next Generation Sequencing (t-NGS) with a capture technique on 93 genes involved in RBC<span> and erythropoiesis defects. We identified 4 missense heterozygous allelic variations, all of them were described without any significance (VUS) in the </span></span></span><em>SLC4A1</em>, <em>RhAG</em>, <em>PIEZO1</em> and <em>SPTB</em><span> genes. The study of the familial cosegregation and research functional tests allowed to decipher the role of at least two by two genes in the phenotype and the hemolytic disease<span> of this young patient. Specialized t-NGS panel (or virtual exome/genome sequencing) in a disease-referent laboratory and the motivated collaboration of clinicians, biologists and scientists should be the gold standard for improving the diagnosis of the patients affected with RBC diseases or rare inherited anemias.</span></span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"103 ","pages":"Article 102780"},"PeriodicalIF":2.3,"publicationDate":"2023-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10368379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Up-regulation of microRNA 101-3p during erythropoiesis in β-thalassemia/HbE β-地中海贫血/HbE红细胞生成过程中microRNA 101-3p的上调
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-17 DOI: 10.1016/j.bcmd.2023.102781
Phatchariya Phannasil , Chanyanat Sukhuma , Donny Nauphar , Khanita Nuamsee , Saovaros Svasti
{"title":"Up-regulation of microRNA 101-3p during erythropoiesis in β-thalassemia/HbE","authors":"Phatchariya Phannasil ,&nbsp;Chanyanat Sukhuma ,&nbsp;Donny Nauphar ,&nbsp;Khanita Nuamsee ,&nbsp;Saovaros Svasti","doi":"10.1016/j.bcmd.2023.102781","DOIUrl":"10.1016/j.bcmd.2023.102781","url":null,"abstract":"<div><p><span><span>Ineffective erythropoiesis is the main cause of anemia in β-thalassemia. The crucial hallmark of ineffective erythropoiesis is the high proliferation of </span>erythroblast<span>. microRNA<span> (miR/miRNA) involves several biological processes<span>, including cell proliferation and erythropoiesis. miR-101 was widely studied and associated with proliferation in several types of cancer. However, the miR-101-3p has not been studied in β-thalassemia/HbE. Therefore, this study aims to investigate the expression of miR-101-3p during erythropoiesis in β-thalassemia/HbE. The results showed that miR-101-3p was upregulated in the erythroblast of β-thalassemia/HbE patients on day 7, indicating that miR-101-3p may be involved with high proliferation in β-thalassemia/HbE. Therefore, the mRNA targets of miR-101-3p including </span></span></span></span><em>Rac1</em>, <span><em>SUB1</em></span>, <em>TET2</em>, and <em>TRIM44</em> were investigated to determine the mechanisms involved with high proliferation of β-thalassemia/HbE erythroblasts. <em>Rac1</em> expression was significantly reduced at day 11 in severe β-thalassemia/HbE compared to normal controls and mild β-thalassemia/HbE. <em>SUB1</em> gene expression was significantly lower in severe β-thalassemia/HbE compared to normal controls at day 9 of culture. For TET2 and TRIM44 expression, a significant difference was not observed among normal and β-thalassemia/HbE. However, the high expression of miR-101-3p at day 7 and these target genes was not correlated, suggesting that this miRNA may regulate ineffective erythropoiesis in β-thalassemia/HbE via other target genes.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"103 ","pages":"Article 102781"},"PeriodicalIF":2.3,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10049554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country 儿童未确诊贫血的逐步诊断方法:中低收入国家的一个模型
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-16 DOI: 10.1016/j.bcmd.2023.102779
Nihal Hussien Aly , Mohsen Saleh Elalfy , Safinaz Adel Elhabashy , Nadia Mohamed Mowafy , Roberta Russo , Immacolata Andolfo , Achille Iolascon , Iman Ahmed Ragab
{"title":"A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country","authors":"Nihal Hussien Aly ,&nbsp;Mohsen Saleh Elalfy ,&nbsp;Safinaz Adel Elhabashy ,&nbsp;Nadia Mohamed Mowafy ,&nbsp;Roberta Russo ,&nbsp;Immacolata Andolfo ,&nbsp;Achille Iolascon ,&nbsp;Iman Ahmed Ragab","doi":"10.1016/j.bcmd.2023.102779","DOIUrl":"10.1016/j.bcmd.2023.102779","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;p&gt;Reaching a precise diagnosis in rare inherited anemia is extremely difficult and challenging, especially in areas with limited use of genetic&lt;span&gt; studies, which makes undiagnosed anemia a unique clinical entity in tertiary hematology centers. In this study, we aim at plotting a stepwise diagnostic approach in children with undiagnosed anemia while identifying indications for genetic testing.&lt;/span&gt;&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Patients and methods&lt;/h3&gt;&lt;p&gt;A one-year cross-sectional study involved 44 children and adolescents with undiagnosed anemia after undergoing an initial routine panel of investigations. They were classified based on mean corpuscular volume (MCV) into 3 groups: microcytic (&lt;em&gt;n&lt;/em&gt; = 19), normocytic (&lt;em&gt;n&lt;/em&gt; = 14) and macrocytic (&lt;em&gt;n&lt;/em&gt; = 11). An algorithm that included four levels of investigations was devised for each category.&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;p&gt;&lt;span&gt;&lt;span&gt;&lt;span&gt;After applying a systematic diagnostic approach, 33 patients (75 %) were diagnosed of whom 7 (15 %) had combined diagnoses, while 11 (25 %) patients remained undiagnosed. Based on the first, second, third and fourth levels of investigations, patients were diagnosed, respectively, as follows: of the 11 patients, 7 were microcytic, 3 normocytic and 1 macrocytic; of the 7 patients, 2 were microcytic, 2 normocytic, and 3 macrocytic; of 10 patients, 5 were microcytic, 4 normocytic and 1 macrocytic; finally, of the 16 patients, 8 were microcytic, 6 normocytic and 2 macrocytic. Numbers recorded appear higher than the actual number of the patients because some of them were diagnosed by more than one level of investigation. The diagnoses obtained in the microcytic group showed hemoglobinopathies, iron refractory &lt;/span&gt;iron deficiency anemia (IRIDA), membrane defects, &lt;/span&gt;sideroblastic anemia&lt;span&gt;&lt;span&gt;, hypo-transferrinemia, a combined diagnosis of sickle cell trait and pyropoikilocytosis. The diagnoses also showed a combined diagnosis of hereditary &lt;/span&gt;spherocytosis&lt;span&gt;&lt;span&gt; (HS) and alpha thalassemia&lt;span&gt; minor, and a combined diagnosis of iron deficiency anemia and beta thalassemia minor, while 15 % remained undiagnosed. In the normocytic group, the diagnosis revealed &lt;/span&gt;&lt;/span&gt;autosomal recessive&lt;span&gt;&lt;span&gt; (AR) HS, vitamin B12 deficiency, &lt;/span&gt;pyruvate kinase deficiency (PKD), congenital dyserythropoietic anemia (CDA) type I, &lt;/span&gt;&lt;/span&gt;&lt;/span&gt;&lt;/span&gt;Diamond Blackfan anemia&lt;span&gt;&lt;span&gt; and beta thalassemia major. In addition, it showed a combined diagnosis of AR HS and CDA type II&lt;span&gt;, a combined diagnosis of AR HS and PKD, and a combined diagnosis of dehydrated stomatocytosis (DHS) and G6PD carrier, meanwhile 20 % remained undiagnosed. Finally, the macrocytic group was diagnosed by vitamin B12 deficiency, sideroblastic anemia, PKD, a combined diagnosis of PKD and &lt;/span&gt;&lt;/span&gt;G6PD deficiency carrier, while 45 % remained undiagnosed.&lt;/span&gt;&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;p&gt;Conducting a stepwise approac","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"103 ","pages":"Article 102779"},"PeriodicalIF":2.3,"publicationDate":"2023-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9996941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
γ′ fibrinogen levels as a biomarker of COVID-19 respiratory disease severity γ’纤维蛋白原水平作为COVID-19呼吸道疾病严重程度的生物标志物
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-01 DOI: 10.1016/j.bcmd.2023.102746
Lucy Z. Kornblith , Bindhya Sadhanandhan , Sreepriya Arun , Rebecca Long , Alicia J. Johnson , Jamie Noll , C.N. Ramchand , John K. Olynyk , David H. Farrell
{"title":"γ′ fibrinogen levels as a biomarker of COVID-19 respiratory disease severity","authors":"Lucy Z. Kornblith ,&nbsp;Bindhya Sadhanandhan ,&nbsp;Sreepriya Arun ,&nbsp;Rebecca Long ,&nbsp;Alicia J. Johnson ,&nbsp;Jamie Noll ,&nbsp;C.N. Ramchand ,&nbsp;John K. Olynyk ,&nbsp;David H. Farrell","doi":"10.1016/j.bcmd.2023.102746","DOIUrl":"10.1016/j.bcmd.2023.102746","url":null,"abstract":"<div><p>Coronavirus disease 2019 (COVID-19) is characterized by a pro-inflammatory state associated with organ failure, thrombosis, and death. We investigated a novel inflammatory biomarker, γ′ fibrinogen (GPF), in 103 hospitalized patients with COVID-19 and 19 healthy controls. We found significant associations between GPF levels and the severity of COVID-19 as judged by blood oxygen saturation (SpO<sub>2</sub>). The mean level of GPF in the patients with COVID-19 was significantly higher than in controls (69.8 (95 % CI 64.8–74.8) mg/dL compared with 36.9 (95 % CI 31.4–42.4) mg/dL, p &lt; 0.0001), whereas C-reactive protein (CRP), lactate dehydrogenase (LDH), and total fibrinogen levels were not significantly different between groups. Mean GPF levels were significantly highest in patients with severe COVID-19 (SpO<sub>2</sub> ≤ 93 %, GPF 75.2 (95 % CI 68.7–81.8) mg/dL), compared to mild/moderate COVID-19 (SpO<sub>2</sub> &gt; 93 %, GPF 62.5 (95 % CI 55.0–70.0) mg/dL, p = 0.01, AUC of 0.68, 95 % CI 0.57–0.78; Youden's index cutpoint 62.9 mg/dL, sensitivity 0.64, specificity 0.63). In contrast, CRP, interleukin-6, ferritin, LDH, D-dimers, and total fibrinogen had weaker associations with COVID-19 disease severity (all ROC curves with lower AUCs). Thus, GPF may be a useful inflammatory marker of COVID-19 respiratory disease severity.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"101 ","pages":"Article 102746"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10147444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9670452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Corrigendum to “Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy” [Blood Cells Mol. Dis. 99 (2023) 102727] “孕妇缺铁性贫血对胎儿铁状态和胎盘铁转运蛋白的影响”的更正[血细胞Mol. Dis. 99 (2023) 102727]
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-01 DOI: 10.1016/j.bcmd.2023.102744
Sreenithi Santhakumar , Rekha Athiyarath , Anne George Cherian , Vinod Joseph Abraham , Biju George , Paweł Lipiński , Eunice Sindhuvi Edison
{"title":"Corrigendum to “Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy” [Blood Cells Mol. Dis. 99 (2023) 102727]","authors":"Sreenithi Santhakumar ,&nbsp;Rekha Athiyarath ,&nbsp;Anne George Cherian ,&nbsp;Vinod Joseph Abraham ,&nbsp;Biju George ,&nbsp;Paweł Lipiński ,&nbsp;Eunice Sindhuvi Edison","doi":"10.1016/j.bcmd.2023.102744","DOIUrl":"10.1016/j.bcmd.2023.102744","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"101 ","pages":"Article 102744"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9457663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High-throughput methods for the analysis of transcription factors and chromatin modifications: Low input, single cell and spatial genomic technologies 转录因子和染色质修饰的高通量分析方法:低输入、单细胞和空间基因组技术
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-07-01 DOI: 10.1016/j.bcmd.2023.102745
Mohammad Salma , Charlotte Andrieu-Soler , Virginie Deleuze , Eric Soler
{"title":"High-throughput methods for the analysis of transcription factors and chromatin modifications: Low input, single cell and spatial genomic technologies","authors":"Mohammad Salma ,&nbsp;Charlotte Andrieu-Soler ,&nbsp;Virginie Deleuze ,&nbsp;Eric Soler","doi":"10.1016/j.bcmd.2023.102745","DOIUrl":"10.1016/j.bcmd.2023.102745","url":null,"abstract":"<div><p><span>Genome-wide analysis of transcription factors and epigenomic<span><span> features is instrumental to shed light on DNA-templated regulatory processes such as transcription, cellular differentiation or to monitor cellular responses to environmental cues. Two decades of technological developments have led to a rich set of approaches progressively pushing the limits of epigenetic profiling towards single cells. More recently, disruptive technologies using innovative </span>biochemistry came into play. Assays such as CUT&amp;RUN, CUT&amp;Tag and variations thereof show considerable potential to survey multiple TFs or </span></span>histone modifications in parallel from a single experiment and in native conditions. These are in the path to become the dominant assays for genome-wide analysis of TFs and chromatin modifications in bulk, single-cell, and spatial genomic applications. The principles together with pros and cons are discussed.</p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"101 ","pages":"Article 102745"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10022777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities 慢性髓系肿瘤的获得性椭圆细胞增多:与获得性红细胞膜蛋白和遗传异常的神秘关系
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-06-22 DOI: 10.1016/j.bcmd.2023.102778
Marshall A. Lichtman , Ronald Sham
{"title":"Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities","authors":"Marshall A. Lichtman ,&nbsp;Ronald Sham","doi":"10.1016/j.bcmd.2023.102778","DOIUrl":"10.1016/j.bcmd.2023.102778","url":null,"abstract":"<div><p>Nineteen reports of 41 cases of acquired red cell elliptocytosis<span> associated with a chronic myeloid neoplasm are described. Although the majority of cases have an abnormality of the long arm of chromosome 20<span><span>, del(q20), several cases do not. Moreover, in one case a specific qualitative abnormality of red cell protein band 4.1(4.1R) was reported; however, several subsequent cases could find no abnormality of a red cell membrane protein or found a different abnormality, usually quantitative. Thus, this striking red cell phenotypic feature, acquired elliptocytosis, seen in myelodysplastic syndrome and other chronic </span>myeloproliferative diseases<span>, closely simulating the red cell phenotype of hereditary elliptocytosis, has an unexplained genetic basis, presumably as the result of an acquired mutation(s) in some chronic myeloid neoplasms.</span></span></span></p></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"103 ","pages":"Article 102778"},"PeriodicalIF":2.3,"publicationDate":"2023-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9986322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Hypoferremia of inflammation: Innate host defense against infections 炎症性低铁血症:宿主对感染的先天防御
IF 2.3 4区 医学
Blood Cells Molecules and Diseases Pub Date : 2023-06-21 DOI: 10.1016/j.bcmd.2023.102777
Tomas Ganz , Elizabeta Nemeth
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引用次数: 2
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