X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (17) 17
index medicus (17) 17
female (13) 13
male (13) 13
child (8) 8
genetics & heredity (8) 8
mutation (8) 8
infant (7) 7
child, preschool (6) 6
phenotype (6) 6
gene (5) 5
adult (4) 4
article (4) 4
chromosome deletion (4) 4
deletion (4) 4
epilepsy (4) 4
genetics (4) 4
haploinsufficiency (4) 4
immunology (4) 4
middle aged (4) 4
pedigree (4) 4
primary immunodeficiency (4) 4
adolescent (3) 3
biochemistry & molecular biology (3) 3
clinical neurology (3) 3
comparative genomic hybridization (3) 3
epilepsy - genetics (3) 3
fibroblasts - metabolism (3) 3
gene duplication (3) 3
genes (3) 3
genetic aspects (3) 3
infant, newborn (3) 3
intellectual disability - genetics (3) 3
multidisciplinary sciences (3) 3
mutations (3) 3
research (3) 3
young adult (3) 3
abridged index medicus (2) 2
aged (2) 2
anemia (2) 2
array-cgh (2) 2
autoimmunity (2) 2
biological sciences (2) 2
calcium-binding proteins - genetics (2) 2
cells (2) 2
chromosome breakage (2) 2
chromosomes, human, x - genetics (2) 2
cytokines (2) 2
developmental disabilities - genetics (2) 2
diagnosis (2) 2
exome (2) 2
family health (2) 2
genetic predisposition to disease (2) 2
genotype & phenotype (2) 2
high-throughput nucleotide sequencing (2) 2
human (2) 2
immunology and inflammation (2) 2
in situ hybridization, fluorescence (2) 2
inborn-errors (2) 2
infectious diseases (2) 2
irf4 (2) 2
italy (2) 2
leucocytes (2) 2
life sciences (2) 2
lymphocytes (2) 2
medical education (2) 2
microbiology and infectious disease (2) 2
phosphorylation (2) 2
pnas plus (2) 2
pyogenic bacterial-infections (2) 2
real-time polymerase chain reaction (2) 2
rearrangements (2) 2
rett-syndrome (2) 2
toll-like receptors - metabolism (2) 2
whipple's disease (2) 2
13q deletion (1) 1
1506 (1) 1
15q11-q13 (1) 1
4p16.3 (1) 1
5q14.3 microduplication syndrome (1) 1
7000 gev-cms8000 gev-cms (1) 1
[ sdv.imm ] life sciences [q-bio]/immunology (1) 1
[ sdv.mhep.mi ] life sciences [q-bio]/human health and pathology/infectious diseases (1) 1
[phys.hexp]physics [physics]/high energy physics - experiment [hep-ex] (1) 1
[sdv.imm]life sciences [q-bio]/immunology (1) 1
[sdv.mhep.mi]life sciences [q-bio]/human health and pathology/infectious diseases (1) 1
abortion, induced (1) 1
acgh (1) 1
active enzyme (1) 1
adaptive immunity (1) 1
age (1) 1
age of onset (1) 1
aicardi-goutieres syndrome (1) 1
aicardi-goutieres-syndrome (1) 1
alleles (1) 1
alpha (1) 1
alpha-synuclein - genetics (1) 1
alpha-synuclein multiplication (1) 1
alu elements - genetics (1) 1
alu repeats (1) 1
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Proceedings of the National Academy of Sciences, USA, ISSN 0027-8424, 01/2017, Volume 114, Issue 4, pp. E514 - E514
Most members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) families transduce signals via a canonical pathway involving the MyD88 adapter... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2011, Volume 48, Issue 10, pp. 710 - 712
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 51, pp. E8277 - E8285
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 2176 - 15
Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic... 
AICARDI-GOUTIERES-SYNDROME | SYSTEMIC-LUPUS-ERYTHEMATOSUS | ACTIVE ENZYME | MAMMALIAN DNA | MULTIDISCIPLINARY SCIENCES | ALPHA | INFLAMMATORY DISEASE | DEOXYRIBONUCLEASE-II | MUTATIONS | EXONUCLEASE TREX1 | NUCLEIC-ACIDS | Endodeoxyribonucleases - immunology | Phosphorylation | Deoxyribonucleases - deficiency | Humans | RNA, Messenger - analysis | Male | Gene Expression Profiling | Erythroblasts - immunology | Signal Transduction - immunology | Deoxyribonucleases - immunology | STAT1 Transcription Factor - metabolism | Female | Endodeoxyribonucleases - deficiency | Child | STAT3 Transcription Factor - metabolism | Interferon-alpha - metabolism | Antiviral Agents - pharmacology | Hereditary Autoinflammatory Diseases - blood | Hereditary Autoinflammatory Diseases - enzymology | Hereditary Autoinflammatory Diseases - immunology | Interferon-alpha - immunology | Up-Regulation - drug effects | Deoxyribonucleases - genetics | Hematopoiesis - immunology | Endodeoxyribonucleases - genetics | Sequence Analysis, RNA | Interferon-alpha - blood | Adolescent | Mutation | Hereditary Autoinflammatory Diseases - genetics | Glomerulonephritis | Neonates | Deformation | Liver | Antibodies | α-Interferon | Microorganisms | Lymphocytes | Hematopoiesis | Peripheral blood | Anti-DNA antibodies | Stat1 protein | Enzyme-linked immunosorbent assay | Deoxyribonucleic acid--DNA | Deoxyribonuclease | Hematology | Anemia | Stat3 protein | Nucleic acids | Ribonucleic acid--RNA | Hemopoiesis | Signaling | Monocytes | Erythroblasts | Fibrosis | Interferon | Endonuclease | Life Sciences | Immunology
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2011, Volume 19, Issue 1, pp. 102 - 107
Journal Article
Cell, ISSN 0092-8674, 02/2017, Volume 168, Issue 5, pp. 789 - 800.e10
The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP... 
toll-like receptors | lipoteichoic acid | LTA | anti-LTA antibodies | primary immunodeficiency | TIRAP | incomplete clinical penetrance | staphylococcus aureus | SIGNAL-TRANSDUCTION | GENE | MYD88 DEFICIENCY | PYOGENIC BACTERIAL-INFECTIONS | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PRIMARY IMMUNODEFICIENCIES | STAPHYLOCOCCUS-AUREUS | TIR DOMAIN | CUTTING EDGE | TLR2 | CELL BIOLOGY | Membrane Glycoproteins - analysis | Humans | Receptors, Interleukin-1 - genetics | Lipopolysaccharides - metabolism | Male | Monocytes - metabolism | Lipopolysaccharides - immunology | Receptors, Interleukin-1 - deficiency | Teichoic Acids - metabolism | Female | Toll-Like Receptors - metabolism | Child | Macrophages - immunology | Fibroblasts - metabolism | Adaptive Immunity | Staphylococcal Infections - drug therapy | Staphylococcal Infections - genetics | Staphylococcal Infections - immunology | Protein Isoforms - analysis | Teichoic Acids - immunology | Phagocytes - metabolism | Toll-Like Receptor 2 - metabolism | Immunity, Innate | Toll-Like Receptors - agonists | Membrane Glycoproteins - genetics | Receptors, Interleukin-1 - analysis | Point Mutation | Antibodies, Monoclonal - administration & dosage | Pedigree | Myeloid Differentiation Factor 88 - metabolism | Membrane Glycoproteins - deficiency | Protein Isoforms - genetics | Interleukins | Monoclonal antibodies | Organic acids | Autoimmunity
Journal Article
Human Mutation, ISSN 1059-7794, 05/2015, Volume 36, Issue 5, pp. 562 - 568
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2017, Volume 114, Issue 4, pp. E514 - E523
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2017, Volume 114, Issue 4, p. E514
  Most members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) families transduce signals via a canonical pathway involving the MyD88... 
Molecules | Leucocytes | Cytokines | Rodents | Mutation
Journal Article