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https://www.readbyqxmd.com/read/29165569/preferential-usage-of-specific-immunoglobulin-heavy-chain-variable-region-genes-with-unmutated-profile-and-advanced-stage-at-presentation-are-common-features-in-patients-with-chronic-lymphocytic-leukemia-from-senegal
#1
Teresa Amato, Abibatou Sall, Tandakha NDiaye Dièye, Alessandro Gozzetti, Michele Iacono, Maria Raffaella Ambrosio, Massimo Granai, Serena Somma, Saliou Diop, Awa Oumar Touré, Evelyne May, Charles Henry Gattiollat, Joëlle Wiels, Yonis Ahmed, Martine Raphael, Lorenzo Leoncini, Cristiana Bellan, Pier Paolo Piccaluga
Objectives: Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in Western populations, being rarer in Asian and African people. It has been suggested that patients with CLL from Africa might have a more aggressive disease compared with white patients. In this study, we aimed to identify genetic factors that may account for this difference. Methods: We analyzed immunoglobulin heavy chain (IGH) genes' mutational status by performing next-generation sequencing in 25 Senegalese and 50 Italian patients with CLL...
November 20, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29162844/dna-nanomapping-using-crispr-cas9-as-a-programmable-nanoparticle
#2
Andrey Mikheikin, Anita Olsen, Kevin Leslie, Freddie Russell-Pavier, Andrew Yacoot, Loren Picco, Oliver Payton, Amir Toor, Alden Chesney, James K Gimzewski, Bud Mishra, Jason Reed
Progress in whole-genome sequencing using short-read (e.g., <150 bp), next-generation sequencing technologies has reinvigorated interest in high-resolution physical mapping to fill technical gaps that are not well addressed by sequencing. Here, we report two technical advances in DNA nanotechnology and single-molecule genomics: (1) we describe a labeling technique (CRISPR-Cas9 nanoparticles) for high-speed AFM-based physical mapping of DNA and (2) the first successful demonstration of using DVD optics to image DNA molecules with high-speed AFM...
November 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/29159189/nmdar-encephalitis-passive-transfer-from-man-to-mouse-by-a-recombinant-antibody
#3
Manish Malviya, Sumanta Barman, Kristin S Golombeck, Jesús Planagumà, Francesco Mannara, Nathalie Strutz-Seebohm, Claudia Wrzos, Fatih Demir, Christine Baksmeier, Julia Steckel, Kim Kristin Falk, Catharina C Gross, Stjepana Kovac, Kathrin Bönte, Andreas Johnen, Klaus-Peter Wandinger, Elena Martín-García, Albert J Becker, Christian E Elger, Nikolaj Klöcker, Heinz Wiendl, Sven G Meuth, Hans-Peter Hartung, Guiscard Seebohm, Frank Leypoldt, Rafael Maldonado, Christine Stadelmann, Josep Dalmau, Nico Melzer, Norbert Goebels
Objective: Autoimmune encephalitis is most frequently associated with anti-NMDAR autoantibodies. Their pathogenic relevance has been suggested by passive transfer of patients' cerebrospinal fluid (CSF) in mice in vivo. We aimed to analyze the intrathecal plasma cell repertoire, identify autoantibody-producing clones, and characterize their antibody signatures in recombinant form. Methods: Patients with recent onset typical anti-NMDAR encephalitis were subjected to flow cytometry analysis of the peripheral and intrathecal immune response before, during, and after immunotherapy...
November 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29158395/histone-methyltransferase-mmset-promotes-aid-mediated-dna-breaks-at-the-donor-switch-region-during-class-switch-recombination
#4
Hai Vu Nguyen, Junchao Dong, Rohit A Panchakshari, Vipul Kumar, Frederick W Alt, Jean-Christophe Bories
In B cells, Ig class switch recombination (CSR) is initiated by activation-induced cytidine deaminase (AID), the activity of which leads to DNA double-strand breaks (DSBs) within IgH switch (S) regions. Preferential targeting of AID-mediated DSBs to S sequences is critical for allowing diversification of antibody functions, while minimizing potential off-target oncogenic events. Here, we used gene targeted inactivation of histone methyltransferase (HMT) multiple myeloma SET domain (MMSET) in mouse B cells and the CH12F3 cell line to explore its role in CSR...
November 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29151525/achromobacter-infection-is-rare-in-japanese-patients-with-pulmonary-b-cell-lymphoma
#5
Satsuki Aoyama, Ayako Masaki, Yuma Sakamoto, Hisashi Takino, Takayuki Murase, Koichi Ohshima, Tadashi Yoshino, Seiichi Kato, Hiroshi Inagaki
Objective Achromobacter xylosoxidans (A. xylosoxidans) has been recently reported to have an association with the development of pulmonary mucosa-associated lymphoid tissue (MALT) lymphoma in patients from European countries. However, the prevalence rates for A. xylosoxidans may vary significantly from country to country. To assess this association, the prevalence of A. xylosoxidans was analyzed in Japanese patients with pulmonary B-cell lymphoma. Methods DNA samples were obtained from formalin-fixed, paraffin-embedded sections of pulmonary MALT lymphomas (n=52), diffuse large B-cell lymphomas (DLBCLs, n=18), and benign pulmonary lesions (n=19)...
November 20, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29136157/depletion-of-recombination-specific-co-factors-by-the-c-terminal-mutant-of-the-activation-induced-cytidine-deaminase-causes-the-dominant-negative-effect-on-class-switch-recombination
#6
Azza Al Ismail, Afzal Husain, Maki Kobayashi, Tasuku Honjo, Nasim A Begum
Activation-induced cytidine deaminase (AID) is essential for class-switch recombination (CSR) and somatic hypermutation (SHM) of immunoglobulin (Ig) genes. Studies on in vitro mutagenized AID as well as its mutations in human patients with Hyper-IgM (HIGM)-syndrome type II revealed that C-terminal AID mutations were defective in CSR whereas their DNA cleavage and SHM activities remained intact. The C-terminal mutants of AID were speculated to exert the dominant negative effect on wild type WT AID whereas its mechanism remains unknown...
November 10, 2017: International Immunology
https://www.readbyqxmd.com/read/29132323/integrative-microrna-and-mrna-deep-sequencing-expression-profiling-in-endemic-burkitt-lymphoma
#7
Cliff I Oduor, Yasin Kaymaz, Kiprotich Chelimo, Juliana A Otieno, John Michael Ong'echa, Ann M Moormann, Jeffrey A Bailey
BACKGROUND: Burkitt lymphoma (BL) is characterized by overexpression of the c-myc oncogene, which in the vast majority of cases is a consequence of an IGH/MYC translocation. While myc is the seminal event, BL is a complex amalgam of genetic and epigenetic changes causing dysregulation of both coding and non-coding transcripts. Emerging evidence suggest that abnormal modulation of mRNA transcription via miRNAs might be a significant factor in lymphomagenesis. However, the alterations in these miRNAs and their correlations to their putative mRNA targets have not been extensively studied relative to normal germinal center (GC) B cells...
November 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29112016/b-lymphoblastic-leukemia-lymphoma-with-burkitt-like-morphology-and-igh-myc-rearrangement-report-of-3-cases-in-adult-patients
#8
Yiting Li, Gunjan Gupta, Ari Molofsky, Yi Xie, Nader Shihabi, Jane McCormick, Elaine S Jaffe
Isolated MYC rearrangement without other recurrent genetic abnormalities is rare in B lymphoblastic leukemia/lymphoma (B-ALL/LBL), with most cases reported in pediatric patients. We report 3 adult cases with lymphoblasts showing a precursor B cell immunophenotype, and isolated MYC/IGH translocation. All 3 cases occurred in male patients with initial presentation of diffuse lymphadenopathy. Cases 1 and 2 had B-ALL with significantly increased lymphoblasts in peripheral blood and bone marrow. Case 3, a patient with human immunodeficiency virus infection, had the diagnosis of B-LBL made on a retroperitoneal lymph node biopsy and had no peripheral blood or bone marrow involvement...
November 3, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29100365/the-value-of-detecting-immunoglobulin-gene-rearrangements-in-the-diagnosis-of-b-cell-lymphoma
#9
Can Lu, QiuYan He, Wei Zhu, ChunYan Fu, JianHua Zhou, YongGuang Tao, Shuang Liu, DeSheng Xiao
Objective: To discuss the clinical value of immunoglobulin gene rearrangements in the diagnosis of B-cell lymphoma. Methods: A total of 209 cases of B-cell lymphomas and 35 cases of reactive lymphoid hyperplasia were selected for DNA extraction and PCR amplification using the BIOMED-2 primer system. Gel electrophoresis of heteroduplexes was used to analyze immunoglobulin gene rearrangements. Results: A total of 209 cases of B-cell lymphoma, including 69 extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue, 63 diffuse large B-cell lymphomas, 39 follicular lymphomas, 15 small lymphocytic lymphomas, 6 plasmacytomas, 6 mantle cell lymphomas, 7 nodal marginal zone B-cell lymphomas, and 4 lymphoplasmacytoid lymphomas, were examined...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29084365/views-of-dermatopathologists-about-clonality-assays-in-the-diagnosis-of-cutaneous-t-cell-and-b-cell-lymphoproliferative-disorders
#10
REVIEW
Nneka Comfere, Uma Sundram, M Yadira Hurley, Brian Swick
BACKGROUND: Appropriate use criteria have been developed for many tests using expert judgment, evidence-based practice, and clinical experience. In this context, the opinions of practitioners about clonality assays in various clinical scenarios where cutaneous lymphoma is suspected are reported. METHODS: An Appropriate Use Criteria Task Force sponsored by the American Society of Dermatopathology (ASDP) synthesized clinical scenarios for cutaneous lymphoproliferative disorders (LPD)...
October 30, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29082051/primary-cutaneous-follicle-centre-lymphoma-with-hodgkin-and-reed-sternberg-like-cells-a-case-report-and-review-of-the-literature
#11
Fatima A Aldarweesh, Diana O Treaba
An elderly woman with a complex medical history presented with a left forearm mass that slowly developed for several months. The excisional biopsy of this skin mass was remarkable for involvement by a follicle centre cell derived lymphoma with a nodular and diffuse pattern associated with a subset of scattered Hodgkin and Reed-Sternberg like cells. Fluorescence in situ hybridization studies did not detect the presence of IgH-bcl2 fusion transcript, and molecular studies were negative for immunoglobulin heavy chain gene rearrangements and EBV DNA sequences...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29078428/correction-for-tong-et-al-igh-isotype-specific-b-cell-receptor-expression-influences-b-cell-fate
#12
(no author information available yet)
No abstract text is available yet for this article.
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29078319/ptip-chromatin-regulator-controls-development-and-activation-of-b-cell-subsets-to-license-humoral-immunity-in-mice
#13
Dan Su, Stijn Vanhee, Rebeca Soria, Elin Jaensson Gyllenbäck, Linda M Starnes, Martina Kubec Højfeldt, Gabriel K Pedersen, Joan Yuan, Jeremy A Daniel
B cell receptor signaling and downstream NF-κB activity are crucial for the maturation and functionality of all major B cell subsets, yet the molecular players in these signaling events are not fully understood. Here we use several genetically modified mouse models to demonstrate that expression of the multifunctional BRCT (BRCA1 C-terminal) domain-containing PTIP (Pax transactivation domain-interacting protein) chromatin regulator is controlled by B cell activation and potentiates steady-state and postimmune antibody production in vivo...
October 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29077092/paxx-and-xlf-interplay-revealed-by-impaired-cns-development-and-immunodeficiency-of-double-ko-mice
#14
Vincent Abramowski, Olivier Etienne, Ramy Elsaid, Junjie Yang, Aurélie Berland, Laetitia Kermasson, Benoit Roch, Stefania Musilli, Jean-Paul Moussu, Karelia Lipson-Ruffert, Patrick Revy, Ana Cumano, François D Boussin, Jean-Pierre de Villartay
The repair of DNA double-stranded breaks (DNAdsb) through non-homologous end joining (NHEJ) is a prerequisite for the proper development of the central nervous system and the adaptive immune system. Yet, mice with Xlf or PAXX loss of function are viable and present with very mild immune phenotypes, although their lymphoid cells are sensitive to ionizing radiation attesting for the role of these factors in NHEJ. In contrast, we show here that mice defective for both Xlf and PAXX are embryonically lethal owing to a massive apoptosis of post-mitotic neurons, a situation reminiscent to XRCC4 or DNA Ligase IV KO conditions...
October 27, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29069762/cell-lines-generated-from-a-chronic-lymphocytic-leukemia-mouse-model-exhibit-constitutive-btk-and-akt-signaling
#15
Simar Pal Singh, Saravanan Y Pillai, Marjolein J W de Bruijn, Ralph Stadhouders, Odilia B J Corneth, Henk Jan van den Ham, Alice Muggen, Wilfred van IJcken, Erik Slinger, Annemieke Kuil, Marcel Spaargaren, Arnon P Kater, Anton W Langerak, Rudi W Hendriks
Chronic lymphocytic leukemia (CLL) is characterized by the accumulation of mature CD5(+) B cells in blood. Spontaneous apoptosis of CLL cells in vitro has hampered in-depth investigation of CLL pathogenesis. Here we describe the generation of three monoclonal mouse cell lines, EMC2, EMC4 and EMC6, from the IgH.TEμ CLL mouse model based on sporadic expression of SV40 large T antigen. The cell lines exhibit a stable CD5(+)CD43(+)IgM(+)CD19(+) CLL phenotype in culture and can be adoptively transferred into Rag1(-/-) mice...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29064593/combination-therapy-incorporating-bcl-2-inhibition-with-venetoclax-for-the-treatment-of-refractory-primary-plasma-cell-leukemia-with-t-11-14
#16
Wilson I Gonsalves, Francis K Buadi, Shaji K Kumar
Primary plasma cell leukemia (pPCL) is the most aggressive form of the plasma cell (PC) malignancy, multiple myeloma (MM). It has been commonly associated with the presence of a chromosome translocation involving the immunoglobulin heavy chain (IgH) locus on 14q32, i.e. t (11;14). Results from early phase clinical trials utilizing the selective bcl-2 inhibitor, venetoclax, as a single agent in patients with relapsed MM have had remarkable efficacy among patients with t (11;14) abnormality. The present case demonstrates the ability of a combination regimen incorporating bcl-2 inhibition with daratumumab, bortezomib, venetoclax and dexamethasone to induce a rapid and very deep hematologic response in a pPCL patient with t (11;14), even in a setting of very refractory disease...
October 24, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29063643/primary-central-nervous-system-extranodal-nasal-type-natural-killer-t-cell-lymphoma-with-cd20-expression
#17
Dujuan Li, Fangfang Fu, Lifei Lian
We report a unique case of primary CNS extranodal natural killer/T-cell lymphoma (PCNS ENKTCL) with CD20 expression and the monoclonal rearrangement of Ig heavey chain (IgH) gene. Resection specimens were evaluated using HE-stained sections, immunohistochemistry, in situ hybridization and PCR. Histopathologic examination, immunohistochemistry and molecular studies showed the intermediate-sized lymphoma cells expressing CD2, CD3ε, granzyme B, TIA-1, CD20 and Epstein-Barr virus-encoded RNA, with germline T-cell receptor gene and the monoclonal rearrangement of IgH gene...
October 24, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29057607/detection-of-monoclonal-b-cells-in-general-population-from-two-different-regions-of-mexico
#18
Sergio Yair Rodríguez-Preciado, María Teresa Magaña-Torres, Ana Rebeca Jaloma Cruz, Patricio Barros-Núñez
To estimate the frequency of monoclonal B cells in Mexican general population from two different regions of Mexico. Monoclonal B cells were detected by rearrangements of the immunoglobulin heavy chains (IGH) in 288 individuals: 188 from a metropolitan area and 100 from a rural area. After DNA extraction from peripheral blood by the CTAB/DTAB method, multiplex PCR was used to amplify the IGH rearrangements, followed by capillary electrophoresis. In together, 9.4% of the studied individuals showed monoclonal B cells...
October 22, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/29053059/the-sensitivity-and-specificity-of-a-urine-based-rapid-diagnostic-test-for-the-diagnosis-of-plasmodium-falciparum-in-a-malaria-endemic-area-in-odisha-india
#19
Ajit Gopal Samal, Prativa Kumari Behera, Akshay Kumar Mohanty, Sanghamitra Satpathi, Abhishek Kumar, Rabi Ratna Panda, Aruna Mukti Minz, Sanjib Mohanty, Abhijit Samal, Rob W Van Der Pluijm
BACKGROUND: Rapid and accurate diagnosis is crucial in the treatment of malaria. Rapid Diagnostic Tests (RDTs) using blood have been recommended by the WHO as an acceptable method for the diagnosis of malaria. RDTs provide results quickly, is simple to use and easy to interpret. However, its use requires collection of blood by skin puncture. Hence the aim of the pilot study is to explore the sensitivity and specificity of RDTs using urine (collected non-invasively) for diagnosis of Plasmodium falciparum malaria and to assess the relation between parasite density in blood with HRP-2 Ag detection in urine...
October 20, 2017: Pathogens and Global Health
https://www.readbyqxmd.com/read/29047407/a-web-based-collection-of-genotype-phenotype-associations-in-hereditary-recurrent-fevers-from-the-eurofever-registry
#20
Riccardo Papa, Matteo Doglio, Helen J Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation...
October 18, 2017: Orphanet Journal of Rare Diseases
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