PubMed:10201973 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10201973-0#82#87#geners1801275","span":{"begin":82,"end":87},"obj":"geners1801275"},{"id":"10201973-0#82#87#geners774309663","span":{"begin":82,"end":87},"obj":"geners774309663"},{"id":"10201973-0#28#35#diseaseC3539909","span":{"begin":28,"end":35},"obj":"diseaseC3539909"}],"relations":[{"id":"82#87#geners180127528#35#diseaseC3539909","pred":"associated_with","subj":"10201973-0#82#87#geners1801275","obj":"10201973-0#28#35#diseaseC3539909"},{"id":"82#87#geners77430966328#35#diseaseC3539909","pred":"associated_with","subj":"10201973-0#82#87#geners774309663","obj":"10201973-0#28#35#diseaseC3539909"}],"text":"Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction.\nA mutation in the human (hu) IL-4R alpha, Q576R, has been linked with allergy in humans. Increased sensitivity of patients cells with this mutation to IL-4 suggest that a Q576R change enhances IL-4 signaling. To directly test this hypothesis, we analyzed the ability of huIL-4R alpha cDNA bearing the Q576R and Y575F mutations to signal tyrosine phosphorylation, DNA-binding activity, proliferation, protection from apoptosis, and CD23 induction in response to huIL-4 in murine cells. Responses generated by the Q576R and Y575F mutants were similar to those of the wild-type receptor, using various concentrations of huIL-4 and times of stimulation. These results indicate that neither the Q576R nor the Y575F mutations have a significant direct effect on IL-4 signal transduction, and that hypersensitive induction of CD23 in cells derived from human allergy patients may be due to different and/or additional alterations in the IL-4 signaling pathway."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10201973-0#69#80#gene3566","span":{"begin":69,"end":80},"obj":"gene3566"},{"id":"10201973-0#82#87#gene3566","span":{"begin":82,"end":87},"obj":"gene3566"},{"id":"10201973-0#98#102#gene3565","span":{"begin":98,"end":102},"obj":"gene3565"},{"id":"10201973-0#28#35#diseaseC3539909","span":{"begin":28,"end":35},"obj":"diseaseC3539909"},{"id":"10201973-5#169#173#gene2208","span":{"begin":951,"end":955},"obj":"gene2208"},{"id":"10201973-5#202#209#diseaseC3539909","span":{"begin":984,"end":991},"obj":"diseaseC3539909"}],"relations":[{"id":"69#80#gene356628#35#diseaseC3539909","pred":"associated_with","subj":"10201973-0#69#80#gene3566","obj":"10201973-0#28#35#diseaseC3539909"},{"id":"82#87#gene356628#35#diseaseC3539909","pred":"associated_with","subj":"10201973-0#82#87#gene3566","obj":"10201973-0#28#35#diseaseC3539909"},{"id":"98#102#gene356528#35#diseaseC3539909","pred":"associated_with","subj":"10201973-0#98#102#gene3565","obj":"10201973-0#28#35#diseaseC3539909"},{"id":"169#173#gene2208202#209#diseaseC3539909","pred":"associated_with","subj":"10201973-5#169#173#gene2208","obj":"10201973-5#202#209#diseaseC3539909"}],"text":"Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction.\nA mutation in the human (hu) IL-4R alpha, Q576R, has been linked with allergy in humans. Increased sensitivity of patients cells with this mutation to IL-4 suggest that a Q576R change enhances IL-4 signaling. To directly test this hypothesis, we analyzed the ability of huIL-4R alpha cDNA bearing the Q576R and Y575F mutations to signal tyrosine phosphorylation, DNA-binding activity, proliferation, protection from apoptosis, and CD23 induction in response to huIL-4 in murine cells. Responses generated by the Q576R and Y575F mutants were similar to those of the wild-type receptor, using various concentrations of huIL-4 and times of stimulation. These results indicate that neither the Q576R nor the Y575F mutations have a significant direct effect on IL-4 signal transduction, and that hypersensitive induction of CD23 in cells derived from human allergy patients may be due to different and/or additional alterations in the IL-4 signaling pathway."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":951,"end":955},"obj":"gene:2208"},{"id":"T1","span":{"begin":984,"end":991},"obj":"disease:C3539909"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction.\nA mutation in the human (hu) IL-4R alpha, Q576R, has been linked with allergy in humans. Increased sensitivity of patients cells with this mutation to IL-4 suggest that a Q576R change enhances IL-4 signaling. To directly test this hypothesis, we analyzed the ability of huIL-4R alpha cDNA bearing the Q576R and Y575F mutations to signal tyrosine phosphorylation, DNA-binding activity, proliferation, protection from apoptosis, and CD23 induction in response to huIL-4 in murine cells. Responses generated by the Q576R and Y575F mutants were similar to those of the wild-type receptor, using various concentrations of huIL-4 and times of stimulation. These results indicate that neither the Q576R nor the Y575F mutations have a significant direct effect on IL-4 signal transduction, and that hypersensitive induction of CD23 in cells derived from human allergy patients may be due to different and/or additional alterations in the IL-4 signaling pathway."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":202,"end":209},"obj":"HP_0012393"},{"id":"T2","span":{"begin":984,"end":991},"obj":"HP_0012393"}],"text":"Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction.\nA mutation in the human (hu) IL-4R alpha, Q576R, has been linked with allergy in humans. Increased sensitivity of patients cells with this mutation to IL-4 suggest that a Q576R change enhances IL-4 signaling. To directly test this hypothesis, we analyzed the ability of huIL-4R alpha cDNA bearing the Q576R and Y575F mutations to signal tyrosine phosphorylation, DNA-binding activity, proliferation, protection from apoptosis, and CD23 induction in response to huIL-4 in murine cells. Responses generated by the Q576R and Y575F mutants were similar to those of the wild-type receptor, using various concentrations of huIL-4 and times of stimulation. These results indicate that neither the Q576R nor the Y575F mutations have a significant direct effect on IL-4 signal transduction, and that hypersensitive induction of CD23 in cells derived from human allergy patients may be due to different and/or additional alterations in the IL-4 signaling pathway."}