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hematological and neurological expressed 1

Thomas J Conlon, Cathryn S Mah, Christina A Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, C Chang I Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa(-/-) mice resulted in high-level transduction of the diaphragm...
December 2016: Human Gene Therapy. Clinical Development
Mihaela Pupavac, David Watkins, Francis Petrella, Somayyeh Fahiminiya, Alexandre Janer, Warren Cheung, Anne-Claude Gingras, Tomi Pastinen, Joseph Muenzer, Jacek Majewski, Eric A Shoubridge, David S Rosenblatt
Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Inborn errors of Cbl metabolism are rare Mendelian disorders associated with hematological and neurological manifestations, and elevations of methylmalonic acid and/or homocysteine in the blood and urine. We describe a patient whose fibroblasts had decreased functional activity of MCM and MS and decreased synthesis of AdoCbl and MeCbl (3...
September 2016: Human Mutation
(no author information available yet)
No abstract text is available yet for this article.
June 2016: Annals of Intensive Care
Alister P W Funnell, Paolo Prontera, Valentina Ottaviani, Maria Piccione, Antonino Giambona, Aurelio Maggio, Fiorella Ciaffoni, Sandra Stehling-Sun, Manuela Marra, Francesca Masiello, Lilian Varricchio, John A Stamatoyannopoulos, Anna R Migliaccio, Thalia Papayannopoulou
Elevated fetal hemoglobin (HbF) ameliorates the clinical severity of hemoglobinopathies such as β-thalassemia and sickle cell anemia. Currently, the only curative approach for individuals under chronic transfusion/chelation support therapy is allogeneic stem cell transplantation. However, recent analyses of heritable variations in HbF levels have provided a new therapeutic target for HbF reactivation: the transcriptional repressor BCL11A. Erythroid-specific BCL11A abrogation is now actively being sought as a therapeutic avenue, but the specific impact of such disruption in humans remains to be determined...
July 2, 2015: Blood
Leandro Maia, Fernanda da Cruz Landim-Alvarenga, Marilda Onghero Taffarel, Carolina Nogueira de Moraes, Gisele Fabrino Machado, Guilherme Dias Melo, Rogério Martins Amorim
BACKGROUND: Recent studies have demonstrated numerous biological properties of mesenchymal stem cells and their potential application in treating complex diseases or injuries to tissues that have difficulty regenerating, such as those affecting the central and peripheral nervous system. Thus, therapies that use mesenchymal stem cells are promising because of their high capacity for self-regeneration, their low immunogenicity, and their paracrine, anti-inflammatory, immunomodulatory, anti-apoptotic and neuroprotective effects...
2015: BMC Veterinary Research
Leandro Maia, Fernanda da Cruz Landim-Alvarenga, Marilda Onghero Taffarel, Carolina Nogueira de Moraes, Gisele Fabrino Machado, Guilherme Dias Melo, Rogério Martins Amorim
BACKGROUND: Recent studies have demonstrated numerous biological properties of mesenchymal stem cells and their potential application in treating complex diseases or injuries to tissues that have difficulty regenerating, such as those affecting the central and peripheral nervous system. Thus, therapies that use mesenchymal stem cells are promising because of their high capacity for self-regeneration, their low immunogenicity, and their paracrine, anti-inflammatory, immunomodulatory, anti-apoptotic and neuroprotective effects...
December 2015: BMC Veterinary Research
M Vázquez, D Vélez, V Devesa
The mercurial forms [inorganic divalent mercury, Hg(II) and methylmercury, CH3Hg] produce neurological and immune effects as well as hematological and renal alterations. The main route of exposure is through the diet. Consequently, the gastrointestinal mucosa is exposed to these mercurial forms, though the potential toxic effects upon the mucosa are not clear. The present study evaluates the toxicity of Hg(II) and CH3Hg (0.1-2 mg/L) in an intestinal epithelium model using the differentiated and undifferentiated human Caco-2 cell line...
December 2014: Food and Chemical Toxicology
Caterina Pipino, Sayandip Mukherjee, Anna L David, Michael P Blundell, Steven W Shaw, Peggy Sung, Panicos Shangaris, Jonathan J Waters, Drew Ellershaw, Marina Cavazzana, Gustavo Mostoslavsky, Assunta Pandolfi, Agostino Pierro, Pascale V Guillot, Adrian J Thrasher, Paolo De Coppi
Trisomy 21 is the most common chromosomal abnormality and is associated primarily with cardiovascular, hematological, and neurological complications. A robust patient-derived cellular model is necessary to investigate the pathophysiology of the syndrome because current animal models are limited and access to tissues from affected individuals is ethically challenging. We aimed to derive induced pluripotent stem cells (iPSCs) from trisomy 21 human mid-trimester amniotic fluid stem cells (AFSCs) and describe their hematopoietic and neurological characteristics...
October 2014: Cellular Reprogramming
Won-Tak Choi, Yilei Yang, Yan Xu, Jing An
The chemokine receptor CXCR4 is required for the entry of human immunodeficiency virus type 1 (HIV-1) into target cells and for the development and dissemination of various types of cancers, including gastrointestinal, cutaneous, head and neck, pulmonary, gynecological, genitourinary, neurological, and hematological malignancies. The T-cell (T)-tropic HIV-1 strains use CXCR4 as the entry coreceptor; consequently, multiple CXCR4 antagonistic inhibitors have been developed for the treatment of acquired immune deficiency syndrome (AIDS)...
2014: Current Topics in Medicinal Chemistry
Marinus R Heideman, Cesare Lancini, Natalie Proost, Eva Yanover, Heinz Jacobs, Jan-Hermen Dannenberg
Class I histone deacetylases are critical regulators of gene transcription by erasing lysine acetylation. Targeting histone deacetylases using relative non-specific small molecule inhibitors is of major interest in the treatment of cancer, neurological disorders and acquired immune deficiency syndrome. Harnessing the therapeutic potential of histone deacetylase inhibitors requires full knowledge of individual histone deacetylases in vivo. As hematologic malignancies show increased sensitivity towards histone deacetylase inhibitors we targeted deletion of class I Hdac1 and Hdac2 to hematopoietic cell lineages...
August 2014: Haematologica
Tatsushi Goto, Fumio Tokunaga, Osamu Hisatomi
Urodele amphibians such as Japanese common newts have a remarkable ability to regenerate their injured neural retina, even as adults. We found that hematological- and neurological-expressed sequence 1 (Hn1) gene was induced in depigmented retinal pigment epithelial (RPE) cells, and its expression was maintained at later stages of newt retinal regeneration. In this study, we investigated the distribution of the HN1 protein, the product of the Hn1 gene, in the developing retinas. Our immunohistochemical analyses suggested that the HN1 protein was highly expressed in an immature retina, and the subcellular localization changed during this retinogenesis as observed in newt retinal regeneration...
2012: Stem Cells International
Pilar Brito-Zerón, Soledad Retamozo, Myriam Gandía, Miriam Akasbi, Marta Pérez-De-Lis, Candido Diaz-Lagares, Xavier Bosch, Albert Bové, Roberto Pérez-Alvarez, María-José Soto-Cárdenas, Antoni Sisó, Manuel Ramos-Casals
OBJECTIVE: To analyze the monoclonal expression of SS through the detection of serum monoclonal immunoglobulins (mIgs) in a large series of patients with Sjögren syndrome (SS), focusing on the etiology, characterization and evolution of the monoclonal band and the association with SS clinical expression and outcomes. METHODS: Serum immunoelectrophoresis (IE) was performed to 408 consecutive patients who were evaluated by our unit between 1992 and 2011: 221 patients who fulfilled the 2002 American-European criteria for primary SS, 122 primary SS patients who fulfilled exclusively the 1993 European criteria and 65 patients with SS-associated hepatitis C virus infection...
August 2012: Journal of Autoimmunity
Lokman Varisli, Ceren Gonen-Korkmaz, Hamid Muhammad Syed, Nuray Bogurcu, Bilge Debelec-Butuner, Burcu Erbaykent-Tepedelen, Kemal Sami Korkmaz
We recently reported that hematological and neurological expressed 1 (HN1) is a ubiquitously expressed, EGF-regulated gene. Expression of HN1 in prostate cell lines down-regulates PI3K-dependent Akt activation. Here, we investigate whether HN1 is regulated by androgens through the putative androgen response elements (AREs) found in its promoter. Knockdown of HN1 expression by siRNA silencing leads to an increase in Akt((S473)) phosphorylation, resulting in the translocation of androgen receptor (AR) to the nucleus; these effects can be abrogated by the non-specific Akt inhibitor LY294002 but not by the ERK inhibitor PD98059...
March 5, 2012: Molecular and Cellular Endocrinology
Romain Micol, Lilia Ben Slama, Felipe Suarez, Loïc Le Mignot, Julien Beauté, Nizar Mahlaoui, Catherine Dubois d'Enghien, Anthony Laugé, Janet Hall, Jérôme Couturier, Louis Vallée, Bruno Delobel, François Rivier, Karine Nguyen, Thierry Billette de Villemeur, Jean-Louis Stephan, Pierre Bordigoni, Yves Bertrand, Nathalie Aladjidi, Jean-Michel Pedespan, Caroline Thomas, Isabelle Pellier, Michel Koenig, Olivier Hermine, Capucine Picard, Despina Moshous, Bénédicte Neven, Fanny Lanternier, Stéphane Blanche, Marc Tardieu, Marianne Debré, Alain Fischer, Dominique Stoppa-Lyonnet et al.
BACKGROUND: Ataxia-telangiectasia (A-T) is a rare genetic disease caused by germline biallelic mutations in the ataxia-telangiectasia mutated gene (ATM) that result in partial or complete loss of ATM expression or activity. The course of the disease is characterized by neurologic manifestations, infections, and cancers. OBJECTIVE: We studied A-T progression and investigated whether manifestations were associated with the ATM genotype. METHODS: We performed a retrospective cohort study in France of 240 patients with A-T born from 1954 to 2005 and analyzed ATM mutations in 184 patients, along with neurologic manifestations, infections, and cancers...
August 2011: Journal of Allergy and Clinical Immunology
Lokman Varisli, Ceren Gonen-Korkmaz, Bilge Debelec-Butuner, Burcu Erbaykent-Tepedelen, Hamid Syed Muhammed, Nuray Bogurcu, Fahri Saatcioglu, Kemal Sami Korkmaz
As the molecular mechanism of β-catenin deregulation is not well understood, and stabilized β-catenin is known to translocate into the nucleus and activate genes for proliferation, a novel regulatory factor, hematological and neurological expressed 1 (HN1), for Akt-GSK3β-β-catenin axis is reported here. In our studies, HN1 gene structure was characterized. HN1 expression was found to be epidermal growth factor-responsive in PC-3 cells, and protein expression was also upregulated in PC-3 and LNCaP but not in DU145 cells...
June 2011: DNA and Cell Biology
J Redel-Montero, C Bujalance-Cabrera, J-M Vaquero-Barrios, F Santos-Luna, M Arenas-De Larriva, P Moreno-Casado, D Espinosa-Jiménez
INTRODUCTION: Bronchiolitis obliterans (BO) occurring after allogeneic bone marrow transplant (ABMT) may be an expression of lung damage of multifactorial origins. At present, it is not a usual condition for lung transplant (LT), accounting for <1% of all indications in the international registry. We sought, to describe the clinical features and outcomes of patients undergoing LT for BO after ABMT in our group. PATIENTS AND METHODS: We undertook a cross-sectional study of patients with an indication for LT due to BO after ABMT from the beginning of our program...
October 2010: Transplantation Proceedings
Nancy Egerton
The epothilone B analog, ixabepilone, demonstrates low susceptibility to drug resistance mechanisms and has demonstrated clinically meaningful efficacy in patients refractory to other chemotherapeutic options. Ixabepilone is approved by the FDA for treatment of patients with metastatic breast cancer (MBC) progressing after taxanes and anthracyclines, either in combination with capecitabine or as monotherapy if the patient has already progressed on capecitabine. Ixabepilone is generally well tolerated at the approved dose and administration schedule of 40 mg/m(2) every 3 weeks...
November 2010: Cancer Chemotherapy and Pharmacology
Matthew J Prior, Victoria C Foletta, Jeremy B Jowett, David H Segal, Melanie A Carless, Joanne E Curran, Tom D Dyer, Eric K Moses, Andrew J McAinch, Nicky Konstantopoulos, Kiymet Bozaoglu, Greg R Collier, David Cameron-Smith, John Blangero, Ken R Walder
The human Abelson helper integration site-1 (AHI1) gene is associated with both neurologic and hematologic disorders; however, it is also located in a chromosomal region linked to metabolic syndrome phenotypes and was identified as a type 2 diabetes mellitus susceptibility gene from a genomewide association study. To further define a possible role in type 2 diabetes mellitus development, AHI1 messenger RNA expression levels were investigated in a range of tissues and found to be highly expressed in skeletal muscle as well as displaying elevated levels in brain regions and gonad tissues...
July 2010: Metabolism: Clinical and Experimental
Nathan Jenks, Rae Myers, Suzanne M Greiner, Jill Thompson, Emily K Mader, Andrew Greenslade, Guy E Griesmann, Mark J Federspiel, Jorge Rakela, Mitesh J Borad, Richard G Vile, Glen N Barber, Thomas R Meier, Michael C Blanco, Stephanie K Carlson, Stephen J Russell, Kah-Whye Peng
Toxicology studies were performed in rats and rhesus macaques to establish a safe starting dose for intratumoral injection of an oncolytic vesicular stomatitis virus expressing human interferon-beta (VSV-hIFNbeta) in patients with hepatocellular carcinoma (HCC). No adverse events were observed after administration of 7.59 x 10(9) TCID(50) (50% tissue culture infective dose) of VSV-hIFNbeta into the left lateral hepatic lobe of Harlan Sprague Dawley rats. Plasma alanine aminotransferase and alkaline phosphatase levels increased and platelet counts decreased in the virus-treated animals on days 1 and 2 but returned to pretreatment levels by day 4...
April 2010: Human Gene Therapy
P Adam, O Sobek, C S Scott, D Dolezil, J Kasik, L Hajdukova, D Adam
Cerebrospinal fluid (CSF) samples (n=50) from patients with neurological disease (bacterial infection, viral infection, neuroborreliosis and multiple sclerosis) were analysed to characterize cell populations by fluorescent immunocytometry with the CD-Sapphire haematology analyser. Reagent combinations applied to all CSF samples comprised CD3/CD19/HLA-DR and CD4/CD8, with some being further analysed using CD3/CD4, CD3/CD16 and CD3/CD25 protocols. Of the 50 samples, 11 were excluded because of high proportions of nonviable cells (n=2) or insufficient cell numbers (n=9)...
February 2010: International Journal of Laboratory Hematology
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