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1. Full Text The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry
by Haar, N. Ter and Jeyaratnam, J and Lachmann, H.J and Simon, A and Brogan, P.A and Doglio, M and Cattalini, M and Anton, J and Modesto, C and Quartier, P and Hoppenreijs, E.P and Martino, S and Insalaco, A and Cantarini, L and Lepore, L and Alessio, M and Calvo Penades, I and Boros, C and Consolini, R and Rigante, D and Russo, R and Pachlopnik Schmid, J and Lane, T and Martini, A and Ruperto, N and Frenkel, J and Gattorno, M and Paediat Rheumatology Int Trials and Paediatric Rheumatology International Trials Organisation and Eurofever Project
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
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2. Full Text Evolutionary pathway to increased virulence and epidemic group A Streptococcus disease derived from 3,615 genome sequences
by Waleed Nasser and Stephen B. Beres and Randall J. Olsen and Melissa A. Dean and Kelsey A. Rice and S. Wesley Long and Karl G. Kristinsson and Magnus Gottfredsson and Jaana Vuopio and Kati Raisanen and Dominique A. Caugant and Martin Steinbakk and Donald E. Low and Allison McGeer and Jessica Darenberg and Birgitta Henriques-Normark and Chris A. Van Beneden and Steen Hoffmann and James M. Musser
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 04/2014, Volume 111, Issue 17, pp. E1768 - E1776
We sequenced the genomes of 3,615 strains of serotype Emm protein 1 (M1) group A Streptococcus to unravel the nature and timing of molecular events... 
Pathogenesis | Phylogeography | Flesh-eating disease | Molecular clock | Mobile genetic element | UNITED-STATES | INFECTIONS | flesh-eating disease | NECROTIZING FASCIITIS | SCARLET FEVER TOXIN | MULTIDISCIPLINARY SCIENCES | mobile genetic element | M1T1 CLONE | phylogeography | pathogenesis | molecular clock | GENETIC ELEMENTS | SEROTYPE | STREPTOLYSIN-O | PYOGENES DISEASE | SHOCK-LIKE SYNDROME | Pharyngitis - microbiology | Epidemics | Genes, Bacterial - genetics | Genomics | Humans | Fasciitis, Necrotizing - genetics | INDEL Mutation - genetics | Pharyngitis - epidemiology | Pharyngitis - genetics | Streptococcal Infections - genetics | Streptococcus pyogenes - genetics | Streptococcus pyogenes - pathogenicity | Time Factors | Virulence - genetics | Base Sequence | Fasciitis, Necrotizing - epidemiology | Serotyping | Disease Models, Animal | Streptococcal Infections - microbiology | Primates - microbiology | Selection, Genetic | Streptococcal Infections - epidemiology | Genome, Bacterial - genetics | Streptococcus pyogenes - isolation & purification | Animals | Fasciitis, Necrotizing - microbiology | Polymorphism, Single Nucleotide - genetics | Finland - epidemiology | Evolution, Molecular | Biological Sciences | PNAS Plus
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3. Full Text A molecular trigger for intercontinental epidemics of group A Streptococcus
by Zhu, Luchang and Olsen, Randall J and Nasser, Waleed and Beres, Stephen B and Vuopio, Jaana and Kristinsson, Karl G and Gottfredsson, Magnus and Porter, Adeline R and DeLeo, Frank R and Musser, James M
Journal of Clinical Investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3545 - 3559
The identification of the molecular events responsible for strain emergence, enhanced virulence, and epidemicity has been a long-pursued goal in infectious... 
MEDICINE, RESEARCH & EXPERIMENTAL | ORIGIN | TRANSMISSION | PHAGOCYTOSIS | PYOGENES DISEASE | GENE-EXPRESSION | STAPHYLOCOCCUS-AUREUS | VIRULENCE | INHIBITOR | NAD-GLYCOHYDROLASE | EMERGENCE | Pandemics | Virulence Factors - genetics | Humans | Streptococcal Infections - epidemiology | Fasciitis, Necrotizing - genetics | Pharyngitis - epidemiology | Bacterial Proteins | Pharyngitis - genetics | Polymorphism, Genetic | Streptococcal Infections - genetics | Streptococcus pyogenes - genetics | NAD+ Nucleosidase - genetics | Streptococcus pyogenes - pathogenicity | Leukocytes - microbiology | Fasciitis, Necrotizing - epidemiology | Streptolysins | Epidemics | Streptococcus | Finland | Genetic aspects | Research | Identification and classification | Health aspects | Genetic polymorphisms | Iceland | Pathogenesis | Cloning | Amino acids | Antimicrobial agents | Infections | Genomes | Gene expression | Studies | Hypotheses | Infectious diseases | Surveillance | Software | Genetic testing | Deoxyribonucleic acid--DNA
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4. Full Text Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
by Gattorno, Marco and Caorsi, Roberta and Meini, Antonella and Cattalini, Marco and Federici, Silvia and Zulian, Francesco and Cortis, Elisabetta and Calcagno, Giuseppina and Tommasini, Alberto and Consolini, Rita and Simonini, Gabriele and Pelagatti, Maria Antonietta and Baldi, Maurizia and Ceccherini, Isabella and Plebani, Alessandro and Frenkel, Joost and Sormani, Maria Pia and Martini, Alberto
Pediatrics, ISSN 0031-4005, 10/2009, Volume 124, Issue 4, pp. e721 - e728
OBJECTIVES: To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous... 
Aphthous stomatitis | Diagnostic score | Periodic fever | Classification | And cervical adenitis syndrome | Molecular analysis | Pharyngitis | DIAGNOSIS | pharyngitis | diagnostic score | RECEPTOR | CLINICAL-FEATURES | classification | ENCODING MEVALONATE KINASE | aphthous stomatitis | AUTOINFLAMMATORY DISORDERS | and cervical adenitis syndrome | HYPERIMMUNOGLOBULINEMIA-D | PEDIATRICS | MUTATIONS | periodic fever | molecular analysis | HYPER-IGD SYNDROME | Fever of Unknown Origin - genetics | Diagnosis, Differential | Genetic Predisposition to Disease | Humans | Familial Mediterranean Fever - genetics | Gene Expression Regulation | Child, Preschool | Male | Phosphotransferases (Alcohol Group Acceptor) - genetics | Lymphadenitis - genetics | Syndrome | Pharyngitis - genetics | Pharyngitis - diagnosis | Stomatitis, Aphthous - diagnosis | Stomatitis, Aphthous - genetics | Lymphadenitis - diagnosis | Female | Familial Mediterranean Fever - diagnosis | Mutation | Child | Fever of Unknown Origin - diagnosis | Cohort Studies | Receptors, Tumor Necrosis Factor - genetics | Pediatrics | Genotype & phenotype | Genetic testing | Fever
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5. Full Text Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome
by Di Gioia, Silvio Alessandro and Bedoni, Nicola and Von Scheven-Gête, Annette and Vanoni, Federica and Superti-Furga, Andrea and Hofer, Michaël and Rivolta, Carlo
Scientific Reports, ISSN 2045-2322, 05/2015, Volume 5, Issue 1, p. 10200
PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis... 
NLRP1 INFLAMMASOME | MULTIDISCIPLINARY SCIENCES | V198M MUTATION | DISORDER | PHENOTYPE | AUTOINFLAMMATORY DISEASES | CLINICAL CHARACTERISTICS | SEQUENCING DATA | TRIALLELIC INHERITANCE | INNATE IMMUNITY | CHILDREN | Recurrence | Genome-Wide Association Study | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Cells, Cultured | Male | Lymphadenitis - genetics | Sequence Analysis, DNA | Pharyngitis - genetics | Carrier Proteins - genetics | Stomatitis, Aphthous - genetics | Base Sequence | Adaptor Proteins, Signal Transducing - genetics | Apoptosis Regulatory Proteins - genetics | Fever - genetics | Female | Child | Hereditary Autoinflammatory Diseases - genetics | Aphthous stomatitis | Susceptibility | Genes | Heredity | Fever | Stomatitis | Missense mutation | Etiology | Adenitis | Chromosome 8 | Foot-and-mouth disease | Pharyngitis | Children | Genetic factors | Deoxyribonucleic acid--DNA | Linkage analysis
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6. Full Text Progress toward Characterization of the Group A Streptococcus Metagenome: Complete Genome Sequence of a Macrolide-Resistant Serotype M6 Strain
by David J. Banks and Stephen F. Porcella and Kent D. Barbian and Stephen B. Beres and Lauren E. Philips and Jovanka M. Voyich and Frank R. DeLeo and Judith M. Martin and Greg A. Somerville and James M. Musser
The Journal of Infectious Diseases, ISSN 0022-1899, 8/2004, Volume 190, Issue 4, pp. 727 - 738
We describe the genome sequence of a macrolide-resistant strain (MGAS10394) of serotype M6 group A Streptococcus (GAS). The genome is 1,900,156 bp in length,... 
Polymerase chain reaction | Bacteriophages | Pathogens | Streptococcus | Major Articles and Brief Reports | Genes | Virulence | Alleles | Genomes | Prophages | Pharyngitis | INFECTIOUS DISEASES | ALLELES | PYROGENIC EXOTOXIN-A | GENE | TRANSCRIPTION | SURFACE-PROTEINS | PYOGENES | IDENTIFICATION | VIRULENCE | INHIBITING PROTEIN | M3 STRAIN | Pharyngitis - microbiology | Streptococcus Phages - genetics | Humans | Streptococcus pyogenes - genetics | Flow Cytometry | Macrolides - pharmacology | Bacterial Proteins - immunology | Drug Resistance, Bacterial - genetics | Antibodies, Bacterial - blood | Child | Bacterial Outer Membrane Proteins - genetics | Streptococcal Infections - microbiology | Genome, Bacterial | Streptococcus pyogenes - drug effects | Membrane Proteins - genetics | Bacterial Proteins - genetics | R Factors - genetics | Membrane Proteins - immunology | Blotting, Western | Streptococcal Infections - blood | Streptococcus pyogenes - isolation & purification | Exotoxins - genetics | Amino Acid Motifs - genetics | Pharyngitis - blood | Gram-positive bacteria | Genetic aspects
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7. Full Text Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome is associated with a card8 variant unable to bind the nlrp3 inflammasome
by Cheung, Ming Sin and Theodoropoulou, Katerina and Lugrin, Jerome and Martinon, Fabio and Busso, Nathalie and Hofer, Michael
Journal of Immunology, ISSN 0022-1767, 03/2017, Volume 198, Issue 5, pp. 2063 - 2069
Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects... 
FRAMEWORK | ACTIVATION | IMMUNOLOGY | PFAPA | GENE | NALP3 | Genetic Predisposition to Disease | Protein Binding - genetics | Inflammasomes - metabolism | Genetic Association Studies | NLR Family, Pyrin Domain-Containing 3 Protein - metabolism | Gene Frequency | Humans | Genotype | Risk | Neoplasm Proteins - metabolism | Syndrome | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - metabolism | DNA Mutational Analysis | Fever - genetics | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Stomatitis, Aphthous | Pharyngitis | Lymphadenitis | Neoplasm Proteins - genetics | Child | Frameshift Mutation - genetics | Hereditary Autoinflammatory Diseases - genetics | Aphthous stomatitis | Health risks | Genetic diversity | Patients | Fever | Carriers | Confidence intervals | Proteins | Stomatitis | Adenitis | Foot-and-mouth disease | Children | Polymorphism | Index Medicus | Abridged Index Medicus
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8. Full Text Superantigenic Activity of emm3 Streptococcus pyogenes Is Abrogated by a Conserved, Naturally Occurring smeZ Mutation
by Turner, Claire E and Sommerlad, Mary and McGregor, Karen and Davies, Frances J and Pichon, Bruno and Chong, Deborah L. W and Farzaneh, Leili and Holden, Matthew T. G and Spratt, Brian G and Efstratiou, Androulla and Sriskandan, Shiranee
PLoS ONE, ISSN 1932-6203, 10/2012, Volume 7, Issue 10, p. e46376
Streptococcus pyogenes M/emm3 strains have been epidemiologically linked with enhanced infection severity and risk of streptococcal toxic shock syndrome... 
UNITED-STATES | CYSTEINE PROTEASE | GENOME SEQUENCE | GROUP-A STREPTOCOCCUS | MULTIDISCIPLINARY SCIENCES | CYNOMOLGUS MACAQUES | TOXIC-SHOCK-SYNDROME | INFECTION | PYROGENIC EXOTOXIN | MITOGENIC EXOTOXIN-Z | M3 STRAIN | Amino Acid Sequence | Species Specificity | Streptococcus pyogenes - immunology | Humans | Molecular Sequence Data | Mice, Transgenic | Mutation - genetics | Antigens, Bacterial - genetics | Sequence Analysis, DNA | Palatine Tonsil - immunology | Shock, Septic - microbiology | Streptococcal Infections - genetics | Streptococcus pyogenes - genetics | Carrier Proteins - genetics | Animals | Base Sequence | Superantigens - genetics | Exotoxins - genetics | Bacterial Toxins - genetics | Mice | Streptococcal Infections - immunology | Bacterial Outer Membrane Proteins - genetics | Infection | Codon | Septic shock | Genetic aspects | T cells | Comparative analysis | Health aspects | Epidemiology | Pathogens | Enzymes | Tonsil | Cytokines | Laboratories | Nonsense mutation | Health risks | Stop codon | Infections | Lymphocytes T | Gene deletion | Gene expression | Toxic shock syndrome | Streptococcal toxic shock syndrome | Mitogenicity | Infectious diseases | Streptococcus | Clonal deletion | Lymphocytes | Deletion | Biocompatibility | Mutation
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9. Full Text Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
by Celiksoy, Mehmet H and Ogur, Gonul and Yaman, Elif and Abur, Ummet and Fazla, Semanur and Sancak, Recep and Yildiran, Alisan
Pediatric Allergy and Immunology, ISSN 0905-6157, 02/2016, Volume 27, Issue 1, pp. 78 - 82
BackgroundThe cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial... 
hypogammaglobulinemia | PFAPA | MEFV | children | syndrome | Hypogammaglobulinemia | Children | PFAPA syndrome | TURKISH CHILDREN | CERVICAL ADENITIS SYNDROME | ADENOPATHY SYNDROME | APHTHOUS STOMATITIS | IMMUNOLOGY | PHARYNGITIS | MEFV GENE | ALLERGY | HENOCH-SCHONLEIN PURPURA | DISEASE | FREQUENCY | PEDIATRICS | PERIODIC FEVER | Glucocorticoids - therapeutic use | Immunoglobulin G - blood | Cytoskeletal Proteins - genetics | Colchicine - therapeutic use | Humans | Child, Preschool | Infant | Male | Pharyngitis - genetics | Pharyngitis - diagnosis | Stomatitis, Aphthous - diagnosis | Stomatitis, Aphthous - genetics | Lymphadenitis - diagnosis | DNA Mutational Analysis | Anti-Inflammatory Agents - therapeutic use | Female | Lymphadenitis - drug therapy | Prednisolone - therapeutic use | Retrospective Studies | Lymphadenitis - blood | Child | Genetic Predisposition to Disease | Genetic Association Studies | Risk Factors | Familial Mediterranean Fever - genetics | Treatment Outcome | Biomarkers - blood | Familial Mediterranean Fever - drug therapy | Lymphadenitis - genetics | Pyrin | Syndrome | Familial Mediterranean Fever - blood | Homozygote | Phenotype | Stomatitis, Aphthous - blood | Stomatitis, Aphthous - drug therapy | Pharyngitis - drug therapy | Heterozygote | Familial Mediterranean Fever - diagnosis | Mutation | Pharyngitis - blood | Gene mutations | Analysis | Genes | Genetic research | Familial Mediterranean fever | Genetic aspects | Colchicine | Prednisolone | Pediatrics | Genetic disorders | Inflammatory diseases
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10. Full Text Contribution of Streptococcus anginosus to infections caused by groups C and G streptococci, Southern India
by Reißmann, Silvana and Friedrichs, Claudia and Rajkumari, Reena and Itzek, Andreas and Fulde, Marcus and Rodloff, Arne C and Brahmadathan, Kootallur N and Chhatwal, Gursharan S and Nitsche-Schmitz, D. Patric
Emerging Infectious Diseases, ISSN 1080-6040, 04/2010, Volume 16, Issue 4, pp. 656 - 663
Vellore, a region in southern India, has a high incidence of severe human infections with beta-hemolytic group C and G streptococci (GCGS). To determine the... 
GROUP-A STREPTOCOCCI | PHARYNGITIS | INFECTIOUS DISEASES | CONSTELLATUS | DISEASE | MILLERI GROUP | M-PROTEIN | LANCEFIELD GROUP-C | IMMUNOLOGY | METRONIDAZOLE | HEMOLYTIC STREPTOCOCCI | PYOGENIC LIVER-ABSCESS | Streptococcal Infections - microbiology | Virulence Factors - genetics | Genes, Bacterial - genetics | Humans | India - epidemiology | Streptococcal Infections - epidemiology | Streptococcus constellatus - genetics | Open Reading Frames - genetics | Sequence Analysis, DNA | DNA, Bacterial - genetics | Streptococcus anginosus - genetics | Streptococcus - genetics | Genetic Markers - genetics | Polymerase Chain Reaction | RNA, Ribosomal, 16S - genetics | Infection | RNA | Health aspects | groups C and G streptococci | abscesses | pharyngitis | bacteria | Streptococcus anginosus | Research | suppurative infections | streptococci
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11. Full Text Distinct signatures of diversifying selection revealed by genome analysis of respiratory tract and invasive bacterial populations
by Patrick R. Shea and Stephen B. Beres and Anthony R. Flores and Amy L. Ewbank and Javier H. Gonzalez-Lugo and Alexandro J. Martagon-Rosado and Juan C. Martinez-Gutierrez and Hina A. Rehman and Monica Serrano-Gonzalez and Nahuel Fittipaldi and Stephen D. Ayers and Paul Webb and Barbara M. Willey and Donald E. Low and James M. Musser and Richard Krause
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2011, Volume 108, Issue 12, pp. 5039 - 5044
Many pathogens colonize different anatomical sites, but the selective pressures contributing to survival in the diverse niches are poorly understood. Group A... 
Capsules | Phylogenetics | Evolutionary genetics | Operons | Genomes | Infections | Pharyngitis | Population genetics | Sequencing | Human genetics | Infectious disease | Microevolution | Pathogenomics | Genomics | MOLECULAR CHARACTERIZATION | population genetics | TOXIN | MULTIDISCIPLINARY SCIENCES | microevolution | CYNOMOLGUS MACAQUES | VIRULENCE | pathogenomics | PHARYNGITIS | HYALURONIC-ACID CAPSULE | GROUP-A STREPTOCOCCUS | infectious disease | genomics | OPERON | HEMOLYTIC STREPTOCOCCI | EXPRESSION | Streptococcal Infections - genetics | Streptococcus pyogenes - genetics | Genome-Wide Association Study | Animals | Humans | Primates | Female | Male | Phylogeny | Genome, Bacterial - physiology | Evolution, Molecular | Pharyngitis - genetics | Bacterial infections | Respiratory organs | Genetic aspects | Research | Health aspects | Cardiopulmonary system | Biological Sciences
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12. Full Text A Direct Link between Carbohydrate Utilization and Virulence in the Major Human Pathogen Group A Streptococcus
by Samuel A. Shelburne and David Keith and Nicola Horstmann and Paul Sumby and Michael T. Davenport and Edward A. Graviss and Richard G. Brennan and James M. Musser
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2008, Volume 105, Issue 5, pp. 1698 - 1703
Although central to pathogenesis, the molecular mechanisms used by microbes to regulate virulence factor production in specific environments during... 
Transcriptomes | Pathogens | Streptococcus | Virulence factors | Genes | Virulence | Oropharynx | Gene expression regulation | Saliva | Streptolysins | Regulation | Pharyngitis | Streptolysin | Transcriptome | ccpA | pharyngitis | transcriptome | CCPA PROTEIN | MULTIDISCIPLINARY SCIENCES | HUMAN SALIVA | regulation | METABOLISM | BACILLUS-SUBTILIS | STRUCTURAL BASIS | CATABOLITE REPRESSION | IN-VIVO | GENE-EXPRESSION | PYOGENES | streptolysin | STREPTOLYSIN-S | Virulence Factors - genetics | Streptococcus pyogenes - growth & development | Humans | Culture Media - metabolism | DNA-Binding Proteins - metabolism | Streptococcus pyogenes - pathogenicity | Virulence - genetics | Gene Deletion | Saliva - microbiology | Female | Transcription, Genetic | Repressor Proteins - metabolism | Oropharynx - microbiology | Promoter Regions, Genetic | Streptococcal Infections - microbiology | Bacterial Proteins - genetics | Carbohydrate Metabolism | Repressor Proteins - genetics | Streptococcus pyogenes - metabolism | DNA-Binding Proteins - genetics | Animals | Streptolysins - genetics | Bacterial Proteins - metabolism | Virulence Factors - metabolism | Mice | Gene Expression Regulation, Bacterial | Bacteria, Pathogenic | Carbohydrate metabolism | Influence | Chemical properties | Virulence (Microbiology) | Research | Biological Sciences
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13. Full Text MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA
by Dagan, Efrat and Gershoni-Baruch, Ruth and Khatib, Ihab and Mori, Adi and Brik, Riva
Rheumatology International, ISSN 0172-8172, 3/2010, Volume 30, Issue 5, pp. 633 - 636
PFAPA is a periodic fever disease, of unknown etiology, characterized by aphthous stomatitis, pharyngitis and cervical adenitis. To inquire whether genes... 
NLRP3 gene | MEFV gene | Medicine & Public Health | Auto-inflammatory disease | Rheumatology | PFAPA syndrome | TNF1rA gene | CARD15/NOD2 gene | APHTHOUS STOMATITIS | PREVALENCE | RHEUMATOLOGY | PHARYNGITIS | GENE | FAMILIAL-MEDITERRANEAN-FEVER | PERIODIC FEVER | Cytoskeletal Proteins - genetics | Hereditary Autoinflammatory Diseases - ethnology | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Nod2 Signaling Adaptor Protein - genetics | Pharyngitis - genetics | Stomatitis, Aphthous - genetics | DNA Mutational Analysis | Female | Child | Genetic Predisposition to Disease | Gene Frequency | Risk Factors | Lymphadenitis - genetics | Chi-Square Distribution | Receptors, Tumor Necrosis Factor, Type I - genetics | Pyrin | Syndrome | Carrier Proteins - genetics | Adolescent | Israel | Mutation | Hereditary Autoinflammatory Diseases - genetics | Development and progression | Anopheles | Crohn's disease | Genetic aspects | Universities and colleges | Analysis
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14. Full Text Clinical and Genetic Characterization of Japanese Sporadic Cases of Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome from a Single Medical Center in Japan
by Kubota, Kazuo and Ohnishi, Hidenori and Teramoto, Takahide and Kawamoto, Norio and Kasahara, Kimiko and Ohara, Osamu and Kondo, Naomi
Journal of Clinical Immunology, ISSN 0271-9142, 7/2014, Volume 34, Issue 5, pp. 584 - 593
To investigate clinical presentation, genetic background and cytokine profile of Japanese sporadic cases of periodic fever, aphthous stomatitis, pharyngitis... 
Medical Microbiology | tonsillectomy | Biomedicine | Immunology | PFAPA | IgD | Infectious Diseases | Internal Medicine | MEFV | IL-1β | PFAPA SYNDROME | ACTIVATION | VARIANTS | IL-1 beta | IMMUNOLOGY | AUTOINFLAMMATORY SYNDROMES | CHILDREN | FAMILIAL MEDITERRANEAN FEVER | INFLAMMATION | YOUNG-ADULT | Cytoskeletal Proteins - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Receptors, Tumor Necrosis Factor, Type I - immunology | Fever - complications | Humans | Tumor Necrosis Factor-alpha - blood | Child, Preschool | Lymphadenitis - immunology | Infant | Male | Stomatitis, Aphthous - pathology | Lymphadenitis - pathology | Interleukin-1beta - blood | Pharyngitis - genetics | Stomatitis, Aphthous - genetics | Stomatitis, Aphthous - immunology | Female | Pharyngitis - pathology | Fever - immunology | Lymphadenitis - complications | Child | Carrier Proteins - immunology | Fever - pathology | Infant, Newborn | Pharyngitis - immunology | Pharyngitis - complications | Gene Expression | Interleukin-18 - blood | Stomatitis, Aphthous - complications | Japan | Periodicity | Lymphadenitis - genetics | Receptors, Tumor Necrosis Factor, Type I - genetics | Pyrin | Syndrome | Carrier Proteins - genetics | Cytoskeletal Proteins - immunology | Tonsillectomy | Fever - genetics | Heterozygote | Mutation | Medical colleges | Corticosteroids | Genomics | Stomatitis | Medical centers | Genetic research | Genetic aspects | Stomatitis, Aphthous | Pharyngitis | Nucleotide sequencing | Lymphadenitis | DNA sequencing
Journal Article
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