Search Our Scientific Publications & Authors

BMC Nephrol 2018 Nov 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

J Allergy Clin Immunol Pract 2018 Sep 19. Epub 2018 Sep 19.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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

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

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

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

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

Blood 2017 07;130(4):558

Hospices Civils de Lyon.

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

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

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

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

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

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

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

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

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

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

BMC Med Genomics 2014 Oct 31;7:61. Epub 2014 Oct 31.

Background: Sleep quality and genetics may contribute to the etiology of gastrointestinal (GI) symptoms. Individuals with impaired sleep often have a number of associated symptoms including chronic abdominal pain (CAP). The current study examined the interactions of brain-derived neurotrophic factor (BDNF) genotype with sleep quality in persons with CAP and healthy controls. Read More

Eur J Immunol 2014 Dec 18;44(12):3747-57. Epub 2014 Oct 18.

Laboratory for Immunological and Molecular Cancer Research, Department of Internal Medicine III with Hematology, Medical Oncology, Hemostaseology, Infectious Diseases, Rheumatology, Oncologic Center, Paracelsus Medical University, Salzburg, Austria.

The activation-induced cytidine deaminase (AID) mediates somatic hypermutation and class switch recombination of the Ig genes by directly deaminating cytosines to uracils. As AID causes a substantial amount of off-target mutations, its activity has been associated with lymphomagenesis and clonal evolution of B-cell malignancies. Although it has been shown that AID is expressed in B-cell chronic lymphocytic leukemia (CLL), a clear analysis of in vivo AID activity in this B-cell malignancy remained elusive. Read More

Biomed Res Int 2014 20;2014:360687. Epub 2014 Jul 20.

Department of Pediatric Cardiovascular Disease, West China Second University Hospital, Sichuan University, No. 20, 3rd Section, South Renmin Road, Chengdu, Sichuan 610041, China ; Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

To establish a reliable isoproterenol induced heart dysfunction fetal rat model and understand the switches of contractile proteins, 45 pregnant rats were divided into 15 mg/kg-once, 15 mg/kg-twice, sham-operated once, sham-operated twice, and control groups. And 18 adult rats were divided into isoproterenol-treated and control groups. H&E staining, Masson staining, and transmission electron microscope were performed. Read More

Dev Comp Immunol 2015 Jan 4;48(1):1-12. Epub 2014 Aug 4.

Department of Biology, The College of William and Mary, Williamsburg, VA 23185, USA.

Bacterial cold water disease (BCWD) is a chronic disease of rainbow trout, and is caused by the Gram-negative bacterium Flavobacterium psychrophilum (Fp), a common aquaculture pathogen. The National Center for Cool and Cold Water Aquaculture has bred two genetic lines of rainbow trout: a line of Fp-resistant trout (ARS-Fp-R or R-line trout) and a line of susceptible trout (ARS-Fp-S, or S-line). Little is known about how phenotypic selection alters immune response parameters or how such changes relate to genetic disease resistance. Read More

Oncology (Williston Park) 2014 Jan;28(1):45-53

Heavy chain diseases are a family of rare, systemic syndromes typically associated with or representing a variant of a B-cell neoplasm. Their characteristic feature is production of a mutated immunoglobulin heavy chain incapable of either partnering with light chains in the formation of a full immunoglobulin molecule or of being degraded by the proteasome. The abnormal heavy chain is detected in urine and/or serum without an associated light chain, a pathognomonic finding. Read More

Cell Mol Immunol 2014 Jan 21;11(1):94-104. Epub 2013 Oct 21.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Immunoglobulin (Ig), a characteristic marker of B cells, has been reported to be expressed in epithelial cells, with a suggested role in their growth and survival. We have previously reported that IgG heavy chain is expressed in acute myeloid leukemia (AML), but not in the monocytes or neutrophils from patients with non-hematopoietic neoplasms or healthy controls. In the present study, we assessed IgM heavy chain expression and repertoire in human myeloid cells. Read More

Dev Comp Immunol 2013 Oct 21;41(2):270-81. Epub 2013 Jun 21.

Department of Biology, The College of William and Mary, Williamsburg, VA 23185-8795, USA.

Pax5 is an alternatively spliced transcription factor that regulates B cell development and activation. The function of specific Pax5 isoforms is unknown. Here we report the existence of seven alternatively spliced isoforms of Pax5 in the rainbow trout. Read More

Neuromuscul Disord 2013 Jun 6;23(6):461-8. Epub 2013 Apr 6.

Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to foot deformities as the most striking clinical symptoms. Mutations of the gene encoding the immunoglobulin heavy chain μ-binding protein 2, mapped on chromosome 11q13, are the cause of the disease. We present the clinical and mutational characteristics of ten patients in the Netherlands who showed considerable clinical variability; they carried six novel mutations, including a deletion of exon 2. Read More

Blood 2012 Nov;120(22):4282

Department of Hematology, Evangelismos Hospital.

Asia Pac J Clin Oncol 2014 Jun 21;10(2):e1-6. Epub 2012 Nov 21.

Department of Respiratory Medicine, the First Affiliated Hospital of Soochow University, Suzhou, China.

Aim: To evaluate the correlation between a polymorphism of PD-L1 gene and the susceptibility of non-small cell lung cancer (NSCLC) in a Chinese population.

Methods: A total of 293 Chinese patients with NSCLC and 293 age and sex matched controls of the same ethnic origin were enrolled in this study. A/C polymorphism at position 8923 in intron 4 of PD-L1 gene was typed using the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). Read More

PLoS One 2012 22;7(6):e39298. Epub 2012 Jun 22.

State Key Laboratory of AgroBiotechnology, College of Biological Sciences, China Agricultural University, Beijing, People's Republic of China.

In science, the guinea pig is known as one of the gold standards for modeling human disease. It is especially important as a molecular and cellular biology model for studying the human immune system, as its immunological genes are more similar to human genes than are those of mice. The utility of the guinea pig as a model organism can be further enhanced by further characterization of the genes encoding components of the immune system. Read More

J Neuropathol Exp Neurol 2012 Jun;71(6):520-30

Upper Airway Research Laboratory, Department of Research, Hackensack University Medical Center, Hackensack, New Jersey 07601, USA.

Dysphagia (impaired swallowing) is common in patients with Parkinson disease (PD) and is related to aspiration pneumonia, the primary cause of death in PD. Therapies that ameliorate the limb motor symptoms of PD are ineffective for dysphagia. This suggests that the pathophysiology of PD dysphagia may differ from that affecting limb muscles, but little is known about potential neuromuscular abnormalities in the swallowing muscles in PD. Read More

J Exp Med 2011 Dec 5;208(13):2733-46. Epub 2011 Dec 5.

Program in Cellular and Molecular Medicine and Immune Disease Institute, Children's Hospital Boston, MA 02115, USA.

Immunoglobulin heavy chain (IgH) class-switch recombination (CSR) replaces initially expressed Cμ (IgM) constant regions (C(H)) exons with downstream C(H) exons. Stimulation of B cells with anti-CD40 plus interleukin-4 induces CSR from Cμ to Cγ1 (IgG1) and Cε (IgE), the latter of which contributes to the pathogenesis of atopic diseases. Although Cε CSR can occur directly from Cμ, most mature peripheral B cells undergo CSR to Cε indirectly, namely from Cμ to Cγ1, and subsequently to Cε. Read More

Am J Kidney Dis 2011 Oct;58(4):621-5

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Heavy chain deposition disease (HCDD) is a comparatively recently described entity characterized by glomerular and tubular basement membrane deposition of monoclonal heavy chains without associated light chains. To our knowledge, review of the literature shows only 24 previously reported cases of HCDD with unequivocal evidence of monoclonal heavy chain deposition in the kidney using immunofluorescence microscopic and electron microscopic studies. The predominant heavy chain subtype was γ. Read More

Pathol Oncol Res 2011 Mar 30;17(1):167-9. Epub 2010 Jul 30.

Department of Pathology, Shizuoka City Shimizu Hospital, Miyakami 1231 Shimizu-Ku, Shizuoka 424-8636, Japan.

Solitary plasmacytoma (SPC) accounts for 5% of plasma cell neoplasm. SPC of the spine is relatively rare, and SPC presenting with sudden paraplegia is very rare. A 53 year-old woman was admitted to our hospital complaining of sudden severe paraplegia and back pain. Read More

Curr Opin Hematol 2010 Jul;17(4):333-40

Centre for Medical Oncology, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London, UK.

Purpose Of Review: Although karyotypic events in follicular lymphoma and its transformation to aggressive lymphoma have been well described, the underlying genetic changes have until recently remained obscure. Both germline and acquired molecular events are now known to predict disease risk and outcome, respectively. Recent developments in these fields are covered within this review. Read More

Mol Cancer 2010 Apr 30;9:97. Epub 2010 Apr 30.

University of Iowa Carver College of Medicine, Department of Pathology, Iowa City, IA, USA.

Background: Myc is a well known driver of lymphomagenesis, and Myc-activating chromosomal translocation is the recognized hallmark of Burkitt lymphoma, an aggressive form of non-Hodgkin's lymphoma. We developed a model that mimics this translocation event by inserting a mouse Myc cDNA gene into the immunoglobulin heavy chain locus, just upstream of the intronic Emu enhancer. These mice, designated iMyc E mu, readily develop B-cell lymphoma. Read More

Circulation 2010 May 19;121(17):1896-903. Epub 2010 Apr 19.

Danish Arrhythmia Research Center, Department of Cardiology B2142, University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

Background: Studies have suggested a link between risk factors for atherosclerotic disease and venous thromboembolism (VTE), but results are heterogeneous. We sought to identify risk factors for VTE with a focus on risk factors for atherosclerotic disease.

Methods And Results: Data were taken from the Copenhagen City Heart Study, a prospective cohort study of a random, age-stratified sample of people living in a defined area in Copenhagen, Denmark, started in 1976 with follow-up until 2007. Read More

J Pediatr Hematol Oncol 2009 Feb;31(2):139-41

Division of Hematology/Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.

Pleural effusions and mediastinal masses are associated with certain types of hematologic malignancies. We report a 20-year-old man with a pleural effusion, a mediastinal mass, and a normal hemogram. The cytology of the pleural effusion initially suggested a lymphoma. Read More

Curr Allergy Asthma Rep 2008 Sep;8(5):404-8

Clinica Pediatrica, Università di Brescia, P.le Spedali Civili 1, 25127, Brescia, Italy.

Agammaglobulinemia is a rare primary immuno-deficiency characterized by an early block of B-cell development in the bone marrow resulting in the absence of peripheral B cells and low/absent immunoglobulin serum levels. Mutations in the Bruton tyrosine kinase and in components of the pre-B-cell receptor (pre-BCR), such as mu heavy chain, surrogate light chain, and Igalpha have been found in 85% to 90% of patients affected by this disease. Here we review the recent advances in the characterization of molecular defects underlying an early block in B-cell development, focusing on the novel finding of the first two patients with agammaglobulinemia caused by mutations in Igbeta, the transmembrane protein that associates with Igalpha as part of the pre-BCR complex. Read More

Mol Immunol 2008 Aug 26;45(13):3573-9. Epub 2008 Jun 26.

The Babraham Institute, Babraham, Cambridge CB22 3AT, United Kingdom.

Nascent, full length, immunoglobulin (Ig) heavy (H)-chains are post-translationally associated with H-chain-binding protein (BiP or GRP78) in the endoplasmic reticulum (ER). The first constant (C) domain, CH1 of a C gene (Cmu, Cgamma, Calpha), is important for this interaction. The contact is released upon BiP replacement by conventional Ig light (L)-chain (kappa or lambda). Read More

J Physiol 2008 Jul 8;586(14):3337-51. Epub 2008 May 8.

Centre for Neuroscience, 525 Heritage Medical Research Centre, Faculty of Medicine, University of Alberta, Edmonton, AB, Canada.

The present study investigated motor unit (MU) loss in a murine model of familial amyotrophic lateral sclerosis (ALS). The fast-twitch tibialis anterior (TA) and medial gastrocnemius (MG) muscles of transgenic SOD1(G93A) and SOD1(WT) mice were studied during the presymptomatic phase of disease progression at 60 days of age. Whole muscle maximum isometric twitch and tetanic forces were 80% lower (P < 0. Read More

Oncogene 2008 Aug 14;27(34):4752-6. Epub 2008 Apr 14.

Department of Immunology, University of Toronto, Medical Sciences Building, Toronto, Canada.

DNA breaks caused by recombination-activating gene 1 (RAG1) and activation-induced cytidine deaminase (AID) induce c-myc/immunoglobulin (Ig) heavy chain chromosomal translocations and thereby stimulate lymphomagenesis. However, constitutive expression of c-myc alone is not sufficient to induce lymphomas. Because RAG1 and AID activity occurs outside of Ig genes, we assessed whether these enzymes provide the secondary genetic lesions in Emu c-myc transgenic mice to promote lymphoma development. Read More

Vnitr Lek 2007 Dec;53(12):1325-37

Interní hematoonkologické klinika Lékarské fakulty MU a FN Brno.

Waldenström macroglobulinemia is defined by the presence of IgM type monoclonal immunoglobulin and histological prove of lymphoplasmocytary lymphoma in the bone marrow. Clinical symptoms of the disease depend on the pressure on the bone marrow by the malignant clone with subsequent cytopenia, extramedullary infiltration and toxic manifestations of monoclonal immunoglobulin. 6q deletion and absence of translocation in the sphere of the heavy immunoglobin chain gene, which is otherwise typical for other lymphoproliferative disorders, is the typical cytogenetic abnormality. Read More

BMC Genomics 2008 Feb 29;9:111. Epub 2008 Feb 29.

Center for Evolutionary and Theoretical Immunology and Department of Biology, University of New Mexico, Albuquerque, NM 87131, USA.

Background: All jawed-vertebrates have four T cell receptor (TCR) chains: alpha (TRA), beta (TRB), gamma (TRG) and delta (TRD). Marsupials appear unique by having an additional TCR: mu (TRM). The evolutionary origin of TRM and its relationship to other TCR remain obscure, and is confounded by previous results that support TRM being a hybrid between a TCR and immunoglobulin locus. Read More

Clin Chim Acta 2008 Mar 6;389(1-2):171-3. Epub 2007 Nov 6.

2nd Department of Internal Medicine, Division of Clinical Haematology, Charles University Hospital, Hradec Králové, Czech Republic.

Heavy chain disease with monoclonal incomplete mu-heavy chains (mu-HCD) is a rare disorder usually associated with an underlying lymphoproliferative malignancy. Laboratory diagnosis of patients with mu-HCD is usually challenging and the monoclonal protein is not detected by electrophoresis in up to 75% of mu-HCD cases. We describe a patient with multiple malignancies in whom we detected and characterized monoclonal mu-heavy chains using immunofixation electrophoresis, capillary zone electrophoresis with immunotyping, and high resolution two-dimensional electrophoresis. Read More

Mol Cell Proteomics 2007 Dec 17;6(12):2230-8. Epub 2007 Sep 17.

Department of Chemistry, Shands Cancer Center, University of Florida Genetics Institute and McKnight Brain Institute, University of Florida, Gainesville, Florida 32611, USA.

The identification of tumor related cell membrane protein targets is important in understanding tumor progression, the development of new diagnostic tools, and potentially for identifying new therapeutic targets. Here we present a novel strategy for identifying proteins that are altered in their expression levels in a diseased cell using cell specific aptamers. Using an intact viable B-cell Burkitt's lymphoma cell line (Ramos cells) as the target, we have selected aptamers that recognize cell membrane proteins with high affinity. Read More

Ann Otol Rhinol Laryngol 2007 Aug;116(8):604-17

Department of Otolaryngology, The Mount Sinai School of Medicine, New York, NY 10029-6574, USA.

Objectives: At present it is believed that the pharyngeal constrictor (PC) muscles are innervated by the vagus (X) nerve and are homogeneous in muscle fiber content. This study tested the hypothesis that adult human PCs are divided into 2 distinct and specialized layers: a slow inner layer (SIL), innervated by the glossopharyngeal (IX) nerve, and a fast outer layer (FOL), innervated by nerve X.

Methods: Eight normal adult human pharynges (16 sides) obtained from autopsies were studied to determine 1) their gross motor innervation by use of Sihler's stain; 2) their terminal axonal branching by use of acetylcholinesterase (AChE) and silver stain; and 3) their myosin heavy chain (MHC) expression in PC muscle fibers by use of immunocytochemical and immunoblotting techniques. Read More

Genes Immun 2007 Jun 5;8(4):325-33. Epub 2007 Apr 5.

Medical Genetics Unit and CRBa, S. Orsola-Malpighi University Hospital, via Massarenti 9, 40138 Bologna, Italy.

Autosomal-recessive agammaglobulinemia is a rare and heterogeneous disorder, characterized by early-onset infections, profound hypogammaglobulinemia of all immunoglobulin isotypes and absence of circulating B lymphocytes. To investigate the molecular basis of the disease, 23 patients with early-onset disease and no mutations in Bruton tyrosine kinase, the gene responsible for X-linked agammaglobulinemia, were selected and analyzed by direct sequencing of candidate genes. Two novel mutations in the mu heavy chain (muHC) gene (IGHM) were identified in three patients belonging to two unrelated families. Read More

Int J Hematol 2006 Oct;84(3):286-7

DNA Repair (Amst) 2006 Sep 11;5(9-10):1213-24. Epub 2006 Jul 11.

Laboratory of Genetics, Center for Cancer Research, National Cancer Institute, NIH, Building 37, Room 3140A, Bethesda, MD 20892-4256, USA.

Chromosomal translocations that join the cellular oncogene Myc (c-myc) with immunoglobulin (Ig) heavy-chain (Igh) or light-chain (Igk, Igl) loci are widely believed to be the crucial initiating oncogenic events in the development of B cell and plasma cell neoplasms in three mammalian species: Burkitt lymphoma (BL) in human beings, plasmacytoma (PCT) in mice, and immunocytoma in rats. Among the Myc-Ig translocations found in these neoplasms, mouse PCT T(12;15)(Igh-Myc) is of special interest because it affords a uniquely useful model system to study the fundamental outstanding questions on the mechanisms, genetics, and biological consequences of Myc translocations. Mouse T(12;15) is the direct counterpart of the human BL t(8;14)(q24;q32) translocation and thus of great relevance for human cancer. Read More

Oncogene 2006 Aug 17;25(35):4947-54. Epub 2006 Apr 17.

1Groupe d'Etude des Proliférations Lymphoïdes, Centre Henri Becquerel, INSERM U614, IFR23, Rouen, France.

The t(3;14)(q27;q32) is the most common translocation involving BCL6 in B-cell lymphoma. Although this translocation was predominantly associated with diffuse large B-cell lymphoma (DLBCL), recent studies have shown that it can also be found in follicular lymphomas (FL), often associated with a large cell component. To further investigate the relationship that might exist between this translocation and the phenotype of the tumors, we studied 34 lymphomas with a t(3;14)(q27;q32). Read More

Best Pract Res Clin Haematol 2005 ;18(4):729-46

Division of General Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Heavy chain diseases (HCDs) are rare B-cell lymphoplasma-cell proliferative disorders characterized by production of truncated monoclonal immunoglobulin heavy chains without associated light chains. HCDs involving the three main immunoglobulin classes have been described; alpha-HCD is the most common and has the most uniform presentation, gamma- and mu-HCDs have variable clinical presentations and histopathologic features. HCDs can be thought of as variant types of non-Hodgkin lymphoma: alpha-HCD presents as an extranodal marginal-zone lymphoma of mucosa-associated lymph-node tissue, gamma-HCD as lymphoplasmacytoid non-Hodgkin lymphoma, and mu-HCD as small lymphocytic non-Hodgkin lymphoma or chronic lymphocytic leukemia. Read More