242 results match your criteria Heavy Chain Disease Mu


Combination of KIT and FLT3-ITD mutation status with minimal residual disease levels guides treatment strategy for adult patients with inv(16) acute myeloid leukemia in first complete remission.

Hematol Oncol 2022 May 9. Epub 2022 May 9.

Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing, China.

Although several studies have investigated the benefits of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for patients with inv (16) acute myeloid leukemia (AML) in first complete remission (CR1) individually stratified by KIT or FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) mutation status or minimal residual disease (MRD) levels, evaluation based on the combination of mutation status and MRD levels remains absent. This study included 157 adult patients with inv (16) AML who were consecutively diagnosed and receiving treatment at our center. A total of 50 (31. Read More

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An oligomeric semiconducting nanozyme with ultrafast electron transfers alleviates acute brain injury.

Sci Adv 2021 Nov 10;7(46):eabk1210. Epub 2021 Nov 10.

Tianjin Key Laboratory of Brain Science and Neural Engineering, Academy of Medical Engineering and Translational Medicine, Tianjin University, Tianjin 300072, China.

Artificial enzymes have attracted wide interest in disease diagnosis and biotechnology due to high stability, easy synthesis, and cost effectiveness. Unfortunately, their catalytic rate is limited to surface electron transfer, affecting the catalytic and biological activity. Here, we report an oligomeric nanozyme (O-NZ) with ultrafast electron transfer, achieving ultrahigh catalytic activity. Read More

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November 2021

Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.

Ann Med 2021 12;53(1):1377-1389

Department of Gynaecology and Obstetrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Aim: Endometriosis is one of the most common reproductive system diseases, but the mechanisms of disease progression are still unclear. Due to its high recurrence rate, searching for potential therapeutic biomarkers involved in the pathogenesis of endometriosis is an urgent issue.

Methods: Due to the similarities between endometriosis and ovarian cancer, four endometriosis datasets and one ovarian cancer dataset were downloaded from Gene Expression Omnibus (GEO) database. Read More

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December 2021

A novel immune prognostic index for stratification of high-risk patients with early breast cancer.

Sci Rep 2021 01 8;11(1):128. Epub 2021 Jan 8.

Interdisciplinary Program in Bioinformatics, College of Natural Sciences, Seoul National University, Seoul, 41566, Republic of Korea.

The prognostic value of current multigene assays for breast cancer is limited to hormone receptor-positive, human epidermal growth factor receptor 2-negative early breast cancer. Despite the prognostic significance of immune response-related genes in breast cancer, immune gene signatures have not been incorporated into most multigene assays. Here, using public gene expression microarray datasets, we classified breast cancer patients into three risk groups according to clinical risk and proliferation risk. Read More

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January 2021

A BCWD-Resistant line of rainbow trout is less sensitive to cortisol implant-induced changes in IgM response as compared to a susceptible (control) line.

Dev Comp Immunol 2021 03 17;116:103921. Epub 2020 Nov 17.

Department of Biology, William and Mary, Williamsburg, VA, 23185, USA. Electronic address:

In salmonids, stress responses increase cortisol levels and disease susceptibility, including to Flavobacterium psychrophilum (Fp), the causative agent of BCWD. A BCWD-resistant line (R-line) of rainbow trout was used here to investigate potential differences in immunoglobulin response after a combined treatment of cortisol and Fp, as compared to a susceptible (S-line) control line. Expression of membrane and secreted immunoglobulin heavy chains mu and tau were determined by RT-qPCR in spleen and anterior kidney. Read More

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Opioid Modulation of Neuronal Iron and Potential Contributions to NeuroHIV.

Methods Mol Biol 2021 ;2201:139-162

Department of Pharmacology & Physiology, Drexel University College of Medicine, Philadelphia, PA, USA.

Opioid use has substantially increased over recent years and remains a major driver of new HIV infections worldwide. Clinical studies indicate that opioids may exacerbate the symptoms of HIV-associated neurocognitive disorders (HAND), but the mechanisms underlying opioid-induced cognitive decline remain obscure. We recently reported that the μ-opioid agonist morphine increased neuronal iron levels and levels of ferritin proteins that store iron, suggesting that opioids modulate neuronal iron homeostasis. Read More

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Natural products as LSD1 inhibitors for cancer therapy.

Acta Pharm Sin B 2020 Jun 20. Epub 2020 Jun 20.

School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou 450001, China.

Natural products generally fall into the biologically relevant chemical space and always possess novel biological activities, thus making them a rich source of lead compounds for new drug discovery. With the recent technological advances, natural product-based drug discovery is now reaching a new era. Natural products have also shown promise in epigenetic drug discovery, some of them have advanced into clinical trials or are presently being used in clinic. Read More

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IgM monoclonal gammopathy with heavy-and-light-chain amyloidosis resembling fibrillary glomerulonephritis determined by tandem mass spectrometry: a case report.

BMC Nephrol 2020 05 24;21(1):195. Epub 2020 May 24.

Department of Nephrology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Background: Fibrillary glomerulonephritis (FGN) is distinguished from amyloidosis by thicker fibrils and the lack of staining with histochemical dyes typically reactive with amyloid. However, congophilic FGN has been proposed recently and adding laser microdissection followed by mass spectrometry (LMD/MS) to conventional pathological methods would be helpful to diagnose FGN. Here, we report a patient initially diagnosed with FGN whose final pathological diagnosis was changed to immunoglobulin heavy-and-light-chain amyloidosis (AHL) after LMD/MS. Read More

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[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].

Rev Peru Med Exp Salud Publica 2019 Oct-Dec;36(4):664-669. Epub 2020 Jan 17.

Sociedad Peruana de Inmunología (SPI). Lima, Perú.

Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes. The diagnosis is confirmed by genetic analysis and the detection of a mutation linked to the X or autosomal recessive or dominant chromosome. Read More

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Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype.

Clin Immunol 2020 01 1;210:108295. Epub 2019 Nov 1.

Division of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Center for Primary Immunodeficiencies, Turkey. Electronic address:

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January 2020

A Targeted Mass Spectrometry Strategy for Developing Proteomic Biomarkers: A Case Study of Epithelial Ovarian Cancer.

Mol Cell Proteomics 2019 09 9;18(9):1836-1850. Epub 2019 Jul 9.

‡Department of Biology, Institute of Molecular Systems Biology, ETH Zurich, 8093 Zurich, Switzerland; §§§Faculty of Science, University of Zurich, 8057 Zurich, Switzerland.

Protein biomarkers for epithelial ovarian cancer are critical for the early detection of the cancer to improve patient prognosis and for the clinical management of the disease to monitor treatment response and to detect recurrences. Unfortunately, the discovery of protein biomarkers is hampered by the limited availability of reliable and sensitive assays needed for the reproducible quantification of proteins in complex biological matrices such as blood plasma. In recent years, targeted mass spectrometry, exemplified by selected reaction monitoring (SRM) has emerged as a method, capable of overcoming this limitation. Read More

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September 2019

Experimental Infection of Turkeys with A Virulent Newcastle Disease Virus Isolated from Broiler Chickens.

Arch Razi Inst 2019 03 1;74(1):51-57. Epub 2019 Mar 1.

Postgraduate Student of Avian Medicine, Faculty of Veterinary Medicine, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

Newcastle disease (ND) is a highly contagious infection of many avian species, mainly chickens and turkeys, with a devastating impact on worldwide poultry production. The ND accounts for heavy losses in Iranian poultry flocks. There are some reports regarding the epidemiology of this infection in Iran. Read More

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AL amyloidosis with non-amyloid forming monoclonal immunoglobulin deposition; a case mimicking AHL amyloidosis.

BMC Nephrol 2018 11 22;19(1):337. Epub 2018 Nov 22.

Kidney and Vascular Pathology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

Background: Immunoglobulin heavy-and-light-chain amyloidosis (AHL amyloidosis) is a newly established disease entity where both the immunoglobulin heavy-chain and light-chain compose amyloid fibrils. The immunoglobulins responsible for the amyloid fibrils are generally identified by immunostaining and/or laser microdissection-liquid chromatography-tandem mass spectrometry (LMD-LC-MS/MS). However, both techniques do not biochemically differentiate immunoglobulins that formed amyloid fibrils from non-responsible immunoglobulins. Read More

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November 2018

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

J Allergy Clin Immunol Pract 2019 03 19;7(3):864-878.e9. Epub 2018 Sep 19.

Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses.

Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings.

Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Read More

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Widespread intronic polyadenylation diversifies immune cell transcriptomes.

Nat Commun 2018 04 30;9(1):1716. Epub 2018 Apr 30.

Computational and Systems Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

Alternative cleavage and polyadenylation (ApA) is known to alter untranslated region (3'UTR) length but can also recognize intronic polyadenylation (IpA) signals to generate transcripts that lose part or all of the coding region. We analyzed 46 3'-seq and RNA-seq profiles from normal human tissues, primary immune cells, and multiple myeloma (MM) samples and created an atlas of 4927 high-confidence IpA events represented in these cell types. IpA isoforms are widely expressed in immune cells, differentially used during B-cell development or in different cellular environments, and can generate truncated proteins lacking C-terminal functional domains. Read More

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Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update.

Mediterr J Hematol Infect Dis 2018 1;10(1):e2018011. Epub 2018 Jan 1.

Department of Biomedical Sciences and Human Oncology, Section of Internal Medicine, University of Bari "Aldo Moro" Medical School, Bari, Italy.

The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain. There are three types of HCD, defined by the class of immunoglobulin heavy chain produced: IgA (α-HCD), IgG (γ-HCD), and IgM (μ-HCD). Alpha-HCD is the most common and usually occurs as intestinal malabsorption in a young adult from a country of the Mediterranean area. Read More

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January 2018

Time-course global proteome analyses reveal an inverse correlation between Aβ burden and immunoglobulin M levels in the APPNL-F mouse model of Alzheimer disease.

PLoS One 2017 23;12(8):e0182844. Epub 2017 Aug 23.

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.

Alzheimer disease (AD) stands out amongst highly prevalent diseases because there is no effective treatment nor can the disease be reliably diagnosed at an early stage. A hallmark of AD is the accumulation of aggregation-prone amyloid β peptides (Aβ), the main constituent of amyloid plaques. To identify Aβ-dependent changes to the global proteome we used the recently introduced APPNL-F mouse model of AD, which faithfully recapitulates the Aβ pathology of the disease, and a workflow that interrogated the brain proteome of these mice by quantitative mass spectrometry at three different ages. Read More

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October 2017

Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.

Genes Immun 2017 09 3;18(3):197-199. Epub 2017 Aug 3.

Fundación Pública Galega de Medicina Xenómica. Rua Choupana SN, Santiago de Compostela, Spain.

Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The remaining cases, clinically similar to XLA, are autosomal recessive agammaglobulinemia (ARA). Read More

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September 2017

Plasma immune protein analysis in the orange-spotted grouper Epinephelus coioides: Evidence for altered expressions of immune factors associated with a choline-supplemented diet.

Fish Shellfish Immunol 2017 Jun 25;65:235-243. Epub 2017 Apr 25.

Department of Aquaculture, National Pingtung University of Science and Technology, Pingtung, Taiwan. Electronic address:

This study aimed to unravel the regulatory roles of choline in activating immune responses and disease resistance of the orange-spotted grouper Epinephelus coioides. Fish were fed a choline-supplemented diet at 1 g kg of feed for 30 days. Fish fed a fish meal basal diet without choline-supplement served as controls. Read More

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Decreased WNT3 expression in chronic lymphocytic leukaemia is a hallmark of disease progression and identifies patients with worse prognosis in the subgroup with mutated IGHV.

Br J Haematol 2016 Dec 21;175(5):851-859. Epub 2016 Sep 21.

Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.

The canonical Wnt pathway, dependent on β-catenin-controlled transcription, is the most explored Wnt pathway, known to drive the malignant transformation of multiple cell types. Several reports have suggested that this pathway also participates in chronic lymphocytic leukaemia (CLL) pathogenesis. To get a better insight into the role of the Wnt/β-catenin pathway in CLL we analysed in detail the expression of the most overexpressed Wnt ligand, encoded by the WNT3 gene, in a well-defined cohort of 137 CLL patients. Read More

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December 2016

The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.

PLoS One 2016 9;11(9):e0162638. Epub 2016 Sep 9.

Department of Rheumatology and Inflammation Research, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden.

Precursor-B cell receptor (pre-BCR) signaling represents a crucial checkpoint at the pre-B cell stage. Aberrant pre-BCR signaling is considered as a key factor for B-cell precursor acute lymphoblastic leukemia (BCP-ALL) development. BCP-ALL are believed to be arrested at the pre-BCR checkpoint independent of pre-BCR expression. Read More

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MYH9 is an Essential Factor for Porcine Reproductive and Respiratory Syndrome Virus Infection.

Sci Rep 2016 04 26;6:25120. Epub 2016 Apr 26.

Department of Preventive Veterinary Medicine, College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi 712100, China.

Porcine reproductive and respiratory syndrome (PRRS) caused by the PRRS virus (PRRSV) is an important swine disease worldwide. PRRSV has a limited tropism for certain cells, which may at least in part be attributed to the expression of the necessary cellular molecules serving as the virus receptors or factors on host cells for virus binding or entry. However, these molecules conferring PRRSV infection have not been fully characterized. Read More

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Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Expert Rev Clin Immunol 2016 24;12(4):479-86. Epub 2016 Feb 24.

a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.

Objectives: Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Bruton's-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this defect in patients with agammaglobulinemia.

Methods: Iranian patients with congenital agammaglobulinemia were included and the correlation between disease-causing mutations and parameters such as clinical and immunologic phenotypes were evaluated in available patients. Read More

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December 2016

Rare variants in the spectrum of human herpesvirus 8/Epstein-Barr virus-copositive lymphoproliferations.

Hum Pathol 2015 Oct 7;46(10):1566-71. Epub 2015 Jul 7.

Department of Anatomy-Histology-Embryology, Faculty of Medicine, University of Ioannina, Ioannina 45110, Greece.

We report 2 rare variants in the spectrum of human herpesvirus 8 (HHV8)/Epstein-Barr virus (EBV)-copositive lymphoproliferations arising in HIV-seronegative patients, including a large B-cell lymphoma arising in the setting of multicentric Castleman disease and a germinotropic lymphoproliferative disorder. In the first case, histology revealed features of multicentric Castleman disease and a proliferation of large lymphoid cells forming clusters or arcs or rings replacing the periphery of follicles or sheets of frank lymphoma outside the follicles. In the second case, a proliferation of large lymphoid cells totally or partially invaded follicle germinal centers. Read More

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October 2015

Positive selection of natural poly-reactive B cells in the periphery occurs independent of heavy chain allelic inclusion.

PLoS One 2015 19;10(5):e0125747. Epub 2015 May 19.

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, China.

Natural autoreactive B cells are important mediators of autoimmune diseases. Receptor editing is known to play an important role in both central and peripheral B cell tolerance. However, the role of allelic inclusion in the development of natural autoreactive B cells is not clear. Read More

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Molecular Mechanisms of IgE Class Switch Recombination.

Curr Top Microbiol Immunol 2015 ;388:21-37

Department of Medicine, Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.

Immunoglobulin (Ig) E is the most tightly regulated of all Ig heavy chain (IgH) isotypes and plays a key role in atopic disease. The gene encoding for IgH in mature B cells consists of a variable region exon-assembled from component gene segments via V(D)J recombination during early B cell development-upstream of a set of IgH constant region CH exons. Upon activation by antigen in peripheral lymphoid organs, B cells can undergo IgH class switch recombination (CSR), a process in which the initially expressed IgH μ constant region exons (Cμ) are deleted and replaced by one of several sets of downstream CH exons (e. Read More

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The immunoglobulin heavy chain VH6-1 promoter regulates Ig transcription in non-B cells.

Cancer Cell Int 2014 26;14(1):114. Epub 2014 Nov 26.

Peking University Center for Human Disease Genomics, Beijing, 100038 China.

Background: Non-B cell immunoglobulins (Igs) are widely expressed in epithelial cancer cells. The past 20 years of research have demonstrated that non-B cell Igs are associated with cancer cell proliferation, the cellular cytoskeleton and cancer stem cells. In this study we explored the transcriptional mechanism of IgM production in non-B cells. Read More

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December 2014

Implications of polyadenylation in health and disease.

Nucleus 2014 31;5(6):508-19. Epub 2014 Oct 31.

a Gene Regulation Group; IBMC-Instituto de Biologia Molecular e Celular ; Universidade do Porto ; Porto , Portugal.

Polyadenylation is the RNA processing step that completes the maturation of nearly all eukaryotic mRNAs. It is a two-step nuclear process that involves an endonucleolytic cleavage of the pre-mRNA at the 3'-end and the polymerization of a polyadenosine (polyA) tail, which is fundamental for mRNA stability, nuclear export and efficient translation during development. The core molecular machinery responsible for the definition of a polyA site includes several recognition, cleavage and polyadenylation factors that identify and act on a given polyA signal present in a pre-mRNA, usually an AAUAAA hexamer or similar sequence. Read More

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September 2015