keyword
https://read.qxmd.com/read/33687433/transcriptomic-and-genomic-heterogeneity-in-blastic-plasmacytoid-dendritic-cell-neoplasms-from-ontogeny-to-oncogenesis
#21
JOURNAL ARTICLE
Florian Renosi, Anne Roggy, Ambre Giguelay, Lou Soret, Pierre-Julien Viailly, Meyling Cheok, Sabeha Biichle, Fanny Angelot-Delettre, Vahid Asnafi, Elizabeth Macintyre, Sandrine Geffroy, Mary Callanan, Tony Petrella, Eric Deconinck, Etienne Daguindau, Véronique Harrivel, Sabrina Bouyer, Véronique Salaun, Pascale Saussoy, Jean Feuillard, Pascal Fuseau, Philippe Saas, Olivier Adotévi, Fabrice Jardin, Christophe Ferrand, Claude Preudhomme, Jacques Colinge, Christophe Roumier, Francine Garnache-Ottou
Oncogenesis and ontogeny of blastic plasmacytoid dendritic cell neoplasm (BPDCN) remain uncertain, between canonical plasmacytoid dendritic cells (pDCs) and AXL+ SIGLEC6+ DCs (AS-DCs). We compared 12 BPDCN to 164 acute leukemia by Affymetrix HG-U133 Plus 2.0 arrays: BPDCN were closer to B-cell acute lymphoblastic leukemia (ALL), with enrichment in pDC, B-cell signatures, vesicular transport, deubiquitination pathways, and AS-DC signatures, but only in some cases. Importantly, 1 T-cell ALL clustered with BPDCN, with compatible morphology, immunophenotype (cCD3+ sCD3- CD123+ cTCL1+ CD304+), and genetics...
March 9, 2021: Blood Advances
https://read.qxmd.com/read/33182226/trans-ancestral-fine-mapping-and-epigenetic-annotation-as-tools-to-delineate-functionally-relevant-risk-alleles-at-ikzf1-and-ikzf3-in-systemic-lupus-erythematosus
#22
JOURNAL ARTICLE
Timothy J Vyse, Deborah S Cunninghame Graham
Background: Prioritizing tag-SNPs carried on extended risk haplotypes at susceptibility loci for common disease is a challenge. Methods: We utilized trans-ancestral exclusion mapping to reduce risk haplotypes at IKZF1 and IKZF3 identified in multiple ancestries from SLE GWAS and ImmunoChip datasets. We characterized functional annotation data across each risk haplotype from publicly available datasets including ENCODE, RoadMap Consortium, PC Hi-C data from 3D genome browser, NESDR NTR conditional eQTL database, GeneCards Genehancers and TF (transcription factor) binding sites from Haploregv4...
November 9, 2020: International Journal of Molecular Sciences
https://read.qxmd.com/read/33135230/broad-phenotypic-spectrum-of-germ-line-7p12-1-microdeletions-encompassing-the-ikzf1-gene-includes-predisposition-to-acute-lymphoblastic-leukemia
#23
JOURNAL ARTICLE
Agata Pastorczak, Anna Hogendorf, Zuzanna Urbanska, Edyta Budzynska, Dorota Jesionek-Kupnicka, Agnieszka Gach, Wanda Hawula, Robert Smigiel, Pawel Skiba, Maria Sasiadek, Monika Lejman, Maria Constatinou, Beata S Lipska-Ziętkiewicz, Wojciech Mlynarski
Microdeletions of 7p12.1 encompassing the IKZF1 gene locus are rare, with few cases reported. The common phenotype includes intellectual disability, overgrowth, and facial dysmorphism accompanied, albeit rarely, by congenital anomalies. Haploinsufficiency of IKZF1 predisposes individuals to childhood acute lymphoblastic leukemia (ALL). In this study, we comprehensively analyzed the frequency of 7p12.1 deletions among 4581 Polish individuals who underwent chromosomal microarray testing for unexplained developmental delay, intellectual disability, and/or congenital anomalies...
February 2021: Genes, Chromosomes & Cancer
https://read.qxmd.com/read/33126432/detection-of-pathogenic-isoforms-of-ikzf1-in-leukemic-cell-lines-and-acute-lymphoblastic-leukemia-samples-identification-of-a-novel-truncated-ikzf1-transcript-in-sup-b15
#24
JOURNAL ARTICLE
Weiqiang Zhao, Ying Li, Chenjiao Yao, Guojuan Zhang, Kevin Y Zhao, Wei Chen, Peng Ru, Xiaokang Pan, Huolin Tu, Daniel Jones
Leukemia-associated alternative splicing of IKZF1 can result in proteins with loss of one to four copies of its N-terminal zinc finger domains (N-ZnF). The best characterized pathogenic splice isoforms, Ik-6 and Ik-8, have been commonly found in BCR-ABL1+ acute lymphoblastic leukemia (ALL) and a subset of BCR-ABL1-like ALL. Infantile and childhood ALL that express these pathogenic IKZF1 isoforms have shown inferior clinical outcomes and can be resistant to tyrosine kinase inhibitors. Using ALL cell lines, we designed and validated a method to detect abnormal IKZF1 transcripts...
October 28, 2020: Cancers
https://read.qxmd.com/read/33122583/common-variable-immunodeficiency-autoimmune-hemolytic-anemia-and-pancytopenia-associated-with-a-defect-in-ikaros
#25
JOURNAL ARTICLE
Ebru Yilmaz, Hye S Kuehn, Eda Odakir, Julie E Niemela, Alper Ozcan, Ahmet Eken, Meino Rohlfs, Murat Cansever, Veysel Gok, Firdevs Aydin, Musa Karakukcu, Fabian Hauck, Christoph Klein, Ekrem Unal, Sergio D Rosenzweig, Turkan Patiroglu
OBJECTIVE: Mutations in IKZF1, which encodes Ikaros family zinc finger 1 (IKAROS) transcription factor, are associated with recurrent infections, cytopenia, autoimmune diseases, and hematological malignancies. Diverse clinical phenotypes resulting from IKZF1 mutations include pulmonary fungal infections, cytopenia, autoimmune hemolytic anemia (AIHA), and malignancies. In this study, we aimed to assess the DNA-binding ability and pericentromeric (PC) localization of a variant of IKZF discovered in a patient...
October 28, 2020: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/33097959/cutaneous-iga-vasculitis-presenting-manifestation-of-a-novel-mutation-in-the-ikzf1-gene
#26
JOURNAL ARTICLE
Aaqib Zaffar Banday, Ankur Kumar Jindal, Anit Kaur, Ruchi Saka, Amber Parwaiz, Man Updesh Singh Sachdeva, Amit Rawat
No abstract text is available yet for this article.
October 24, 2020: Rheumatology
https://read.qxmd.com/read/33085860/dasatinib-blinatumomab-for-ph-positive-acute-lymphoblastic-leukemia-in-adults
#27
JOURNAL ARTICLE
Robin Foà, Renato Bassan, Antonella Vitale, Loredana Elia, Alfonso Piciocchi, Maria-Cristina Puzzolo, Martina Canichella, Piera Viero, Felicetto Ferrara, Monia Lunghi, Francesco Fabbiano, Massimiliano Bonifacio, Nicola Fracchiolla, Paolo Di Bartolomeo, Alessandra Mancino, Maria-Stefania De Propris, Marco Vignetti, Anna Guarini, Alessandro Rambaldi, Sabina Chiaretti
BACKGROUND: Outcomes in patients with Philadelphia chromosome (Ph)-positive acute lymphoblastic leukemia (ALL) have improved with the use of tyrosine kinase inhibitors. Molecular remission is a primary goal of treatment. METHODS: We conducted a phase 2 single-group trial of first-line therapy in adults with newly diagnosed Ph-positive ALL (with no upper age limit). Dasatinib plus glucocorticoids were administered, followed by two cycles of blinatumomab. The primary end point was a sustained molecular response in the bone marrow after this treatment...
October 22, 2020: New England Journal of Medicine
https://read.qxmd.com/read/33054468/combined-analysis-of-ikzf1-deletions-and-crlf2-expression-on-prognostic-impact-in-pediatric-b-cell-precursor-acute-lymphoblastic-leukemia
#28
JOURNAL ARTICLE
Lei Cui, Chao Gao, Chan-Juan Wang, Xiao-Xi Zhao, Wei-Jing Li, Zhi-Gang Li, Hu-Yong Zheng, Tian-You Wang, Rui-Dong Zhang
This study aimed to investigate the combined impact of IKZF1 deletions/high expression of CRLF2 on the prognosis of pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). IKZF1 deletions and CRLF2 expression were assessed in bone marrow samples from 117 children with newly diagnosed BCP-ALL. Sixteen (13.7%) patients were found to harbor IKZF1 deletions, which was associated with inferior outcomes. The event-free survival (EFS) for patients with high - CRLF2 expression was significantly worse than that for low - CRLF2 expression...
February 2021: Leukemia & Lymphoma
https://read.qxmd.com/read/33036022/targeting-the-gck-pathway-a-novel-and-selective-therapeutic-strategy-against-ras-mutated-multiple-myeloma
#29
JOURNAL ARTICLE
Shirong Li, Jing Fu, Jun Yang, Huihui Ma, Divaya Bhutani, Markus Y Mapara, Christophe Marcireau, Suzanne Lentzsch
In multiple myeloma (MM), frequent mutations of NRAS, KRAS, or BRAF are found in up to 50% of newly diagnosed patients. The majority of the NRAS, KRAS, and BRAF mutations occur in hotspots causing constitutive activation of the corresponding proteins. Thus, targeting RAS mutation in MM will increase therapeutic efficiency and potentially overcome drug resistance. We identified germinal center kinase (GCK) as a novel therapeutic target in MM with RAS mutation. GCK knockdown (KD) in MM cells demonstrated in vitro and in vivo that silencing of GCK induces MM cell growth inhibition, associated with blocked MKK4/7-JNK phosphorylation and impaired degradation of IKZF1/3, BCL-6, and c-MYC...
April 1, 2021: Blood
https://read.qxmd.com/read/33031316/ikzf1-polymorphisms-are-associated-with-susceptibility-cytokine-levels-and-clinical-features-in-systemic-lupus-erythematosus
#30
JOURNAL ARTICLE
Lin Chen, Qian Niu, Zhuochun Huang, Bin Yang, Yongkang Wu, Junlong Zhang
Ikaros family zinc finger 1(IKZF1) encodes a lymphoid-restricted zinc finger transcription factor named Ikaros that regulates lymphocyte differentiation and proliferation as well as self-tolerance. Increasing evidence indicates that IKZF1 could contribute to the pathogenesis of autoimmune diseases. Recent research has provided evidence that IKZF1 might correlate with Systemic lupus erythematosus (SLE), but no clear definition has been made yet. In this study, we focus on the relationship between IKZF1 polymorphisms and SLE susceptibility, cytokine levels, and clinical characteristics in the Chinese Han population...
October 9, 2020: Medicine (Baltimore)
https://read.qxmd.com/read/32999023/epstein-barr-virus-episome-physically-interacts-with-active-regions-of-the-host-genome-in-lymphoblastoid-cells
#31
JOURNAL ARTICLE
Luopin Wang, Jun Laing, Bingyu Yan, Hufeng Zhou, Liangru Ke, Chong Wang, Yohei Narita, Zonghao Zhang, Matthew R Olson, Behdad Afzali, Bo Zhao, Majid Kazemian
The Epstein-Barr virus (EBV) episome is known to interact with the three-dimensional structure of the human genome in infected cells. However, the exact locations of these interactions and their potential functional consequences remain unclear. Recently, high-resolution chromatin conformation capture (Hi-C) assays in lymphoblastoid cells have become available, enabling us to precisely map the contacts between the EBV episome(s) and the human host genome. Using available Hi-C data at a 10-kb resolution, we have identified 15,000 reproducible contacts between EBV episome(s) and the human genome...
November 23, 2020: Journal of Virology
https://read.qxmd.com/read/32984863/cyclosporine-broadens-the-therapeutic-potential-of-lenalidomide-in-myeloid-malignancies
#32
JOURNAL ARTICLE
Aixia Dou, Jing Fang
The immunomodulatory drug lenalidomide is used for the treatment of certain hematologic malignancies, including myelodysplastic syndromes (MDS). Lenalidomide interacts with cereblon (CRBN), a component of the CRL4CRBN E3 ubiquitin ligase complex, leading to ubiquitination and subsequent degradation of substrates, such as transcription factor Ikaros (Ikaros family zinc finger 1, IKZF1). With a genome loss of function screen, we recently identified two novel pathways mediated by lenalidomide in MDS. In this review, we summarized the major findings of these two pathways and their clinical implications...
2020: Journal of cellular immunology
https://read.qxmd.com/read/32958500/evaluation-of-circulating-tumor-dna-for-methylated-bcat1-and-ikzf1-to-detect-recurrence-of-stage-ii-stage-iii-colorectal-cancer-crc
#33
JOURNAL ARTICLE
Benjamin L Musher, Joshua E Melson, Gianni Amato, David Chan, Marisa Hill, Ifekhar Khan, Samith T Kochuparambil, Susan E Lyons, James Orsini, Susanne K Pedersen, Bruce Robb, Joel Saltzman, Jennifer Silinsky, Snigdha Gaur, Melissa Tuck, Lawrence C LaPointe, Graeme P Young
BACKGROUND: Most recurrences of early-stage colorectal cancer (CRC) detected with current surveillance measures are widespread and incurable. Circulating tumor DNA (ctDNA) may facilitate earlier diagnosis of recurrent CRC and improve cancer-related outcomes. METHODS: Plasma from patients undergoing standard surveillance after definitive treatment for stage II/III CRC was assayed with COLVERA and carcinoembryonic antigen (CEA) at a single time-point. Results were correlated with radiographic imaging...
September 21, 2020: Cancer Epidemiology, Biomarkers & Prevention
https://read.qxmd.com/read/32955182/old-and-new-generation-immunomodulatory-drugs-in-multiple-myeloma
#34
JOURNAL ARTICLE
Daniele Derudas, Francesca Capraro, Giovanni Martinelli, Claudio Cerchione
INTRODUCTION: Over the last two decades, the outcomes of patients with multiple myeloma (MM), a malignant plasma cells dyscrasia, have dramatically improved. The development and the introduction of the immunomodulatory drugs (IMiDs) which include thalidomide, lenalidomide, and pomalidomide, has contributed significantly to these improvements. EVIDENCE ACQUISITION: The IMiDs have been shown a multitude of mechanisms of action, including anti-angiogenic, cytotoxic, and immunomodulatory...
September 21, 2020: Panminerva Medica
https://read.qxmd.com/read/32929090/structural-bases-of-imid-selectivity-that-emerges-by-5-hydroxythalidomide
#35
JOURNAL ARTICLE
Hirotake Furihata, Satoshi Yamanaka, Toshiaki Honda, Yumiko Miyauchi, Atsuko Asano, Norio Shibata, Masaru Tanokura, Tatsuya Sawasaki, Takuya Miyakawa
Thalidomide and its derivatives exert not only therapeutic effects as immunomodulatory drugs (IMiDs) but also adverse effects such as teratogenicity, which are due in part to different C2H2 zinc-finger (ZF) transcription factors, IKZF1 (or IKZF3) and SALL4, respectively. Here, we report the structural bases for the SALL4-specific proteasomal degradation induced by 5-hydroxythalidomide, a primary thalidomide metabolite generated by the enzymatic activity of cytochrome P450 isozymes, through the interaction with cereblon (CRBN)...
September 14, 2020: Nature Communications
https://read.qxmd.com/read/32908909/transcription-factors-that-regulate-the-pathogenesis-of-ulcerative-colitis
#36
JOURNAL ARTICLE
Bing Zhang, Tao Sun
Ulcerative colitis (UC) is one of the inflammatory bowel diseases (IBD) characterized by occurrence in the rectum and sigmoid colon of young adults. However, the functional roles of transcription factors (TFs) and their regulating target genes and pathways are not fully known in ulcerative colitis (UC). In this study, we collected gene expression data to identify differentially expressed TFs (DETFs). We found that differentially expressed genes (DEGs) were significantly enriched in the target genes of HOXA2 , IKZF1 , KLF2 , XBP1 , EGR2 , ETV7 , BACH2 , CBFA2T3 , HLF , and NFE2 ...
2020: BioMed Research International
https://read.qxmd.com/read/32906688/combination-treatment-with-gsk126-and-pomalidomide-induces-b-cell-differentiation-in-ezh2-gain-of-function-mutant-diffuse-large-b-cell-lymphoma
#37
JOURNAL ARTICLE
Sungryul Park, Seung-Hyun Jo, Jong-Hwan Kim, Seon-Young Kim, Jae Du Ha, Jong Yeon Hwang, Myeong Youl Lee, Jong Soon Kang, Tae-Su Han, Sung Goo Park, Sunhong Kim, Byoung Chul Park, Jeong-Hoon Kim
Enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2), the catalytic subunit of polycomb repressive complex 2 (PRC2), regulates genes involved in cell lineage and differentiation through methylating lysine 27 on histone H3 (H3K27me3). Recurrent gain-of-function mutations of EZH2 have been identified in various cancer types, in particular, diffuse large B-cell lymphoma (DLBCL), through large-scale genome-wide association studies and EZH2 depletion or pharmacological inhibition has been shown to exert an antiproliferative effect on cancer cells, both in vitro and in vivo...
September 7, 2020: Cancers
https://read.qxmd.com/read/32878923/pou2f1-and-pou2f2-cooperate-to-control-the-timing-of-cone-photoreceptor-production-in-the-developing-mouse-retina
#38
JOURNAL ARTICLE
Awais Javed, Pierre Mattar, Suying Lu, Kamil Kruczek, Magdalena Kloc, Anai Gonzalez-Cordero, Rod Bremner, Robin R Ali, Michel Cayouette
Multipotent retinal progenitor cells (RPCs) generate various cell types in a precise chronological order, but how exactly cone photoreceptor production is restricted to early stages remains unclear. Here, we show that the POU-homeodomain factors Pou2f1/Pou2f2, the homologs of Drosophila temporal identity factors nub/pdm2, regulate the timely production of cones in mice. Forcing sustained expression of Pou2f1 or Pou2f2 in RPCs expands the period of cone production, whereas misexpression in late-stage RPCs triggers ectopic cone production at the expense of late-born fates...
September 2, 2020: Development
https://read.qxmd.com/read/32850314/mmp25-regulates-immune-infiltration-level-and-survival-outcome-in-head-and-neck-cancer-patients
#39
JOURNAL ARTICLE
Yujie Liang, Chenyu Guan, Kan Li, Guangsen Zheng, Tao Wang, Sien Zhang, Guiqing Liao
Background: MMP25 is a critical gene of matrix metalloproteinases (MMPs). However, the molecular mechanism of MMP25 in head and neck cancer pathogenesis remains unclear. Methods: MMP25 expression was analyzed using The Cancer Genome Atlas (TCGA) database, and its influence on clinical prognosis was performed using Kaplan-Meier and Cox regression analyses. The correlation between MMP25 and immune infiltration was investigated by CIBERSORT, TIMER, and ESTIMATE. In addition, the relationship between MMP25 expression and molecular mechanisms was analyzed by gene set enrichment analysis (GSEA), gene ontology (GO), and weighted gene co-expression network analysis (WGCNA)...
2020: Frontiers in Oncology
https://read.qxmd.com/read/32819174/functional-analysis-of-germline-etv6-w380r-mutation-causing-inherited-thrombocytopenia-and-secondary-acute-lymphoblastic-leukemia-or-essential-thrombocythemia
#40
JOURNAL ARTICLE
Katerina Stano Kozubik, Lenka Radova, Kamila Reblova, Michal Smida, Marketa Zaliova Kubricanova, Jiri Baloun, Michaela Pesova, Zuzana Vrzalova, Frantisek Folber, Sona Mejstrikova, Sarka Pospisilova, Michael Doubek
Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute lymphoblastic leukemia (ALL) or essential thrombocythemia (ET). In-silico analysis predicted impaired DNA binding due to W380R mutation. Functional analysis showed that this mutation prevents the ETV6 protein from localizing into the cell nucleus and impairs the transcriptional repression activity of ETV6...
August 21, 2020: Platelets
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