PubMed:7973658 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":813,"end":817},"obj":"gene:3718"},{"id":"T1","span":{"begin":752,"end":786},"obj":"disease:C1279481"}],"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":"Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID.\nInterleukin-2 (IL-2) signaling requires the dimerization of the IL-2 receptor beta.(IL-2R beta) and common gamma (gamma c) chains. Mutations of gamma c can result in X-linked severe combined immunodeficiency (XSCID). IL-2, IL-4, IL-7 (whose receptors are known to contain gamma c), and IL-9 (whose receptor is shown here to contain gamma c) induced the tyrosine phosphorylation and activation of the Janus family tyrosine kinases Jak1 and Jak3. Jak1 and Jak3 associated with IL-2R beta and gamma c, respectively; IL-2 induced Jak3-IL-2R beta and increased Jak3-gamma c associations. Truncations of gamma c, and a gamma c, point mutation causing moderate X-linked combined immunodeficiency (XCID), decreased gamma c-Jak3 association. Thus, gamma c mutations in at least some XSCID and XCID patients prevent normal Jak3 activation, suggesting that mutations of Jak3 may result in an XSCID-like phenotype."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"7973658-0#50#54#gene3716","span":{"begin":50,"end":54},"obj":"gene3716"},{"id":"7973658-0#59#63#gene3718","span":{"begin":59,"end":63},"obj":"gene3718"},{"id":"7973658-0#82#87#diseaseC1279481","span":{"begin":82,"end":87},"obj":"diseaseC1279481"},{"id":"7973658-0#92#96#diseaseC1279481","span":{"begin":92,"end":96},"obj":"diseaseC1279481"},{"id":"7973658-0#82#87#diseaseC1279481","span":{"begin":82,"end":87},"obj":"diseaseC1279481"},{"id":"7973658-0#92#96#diseaseC1279481","span":{"begin":92,"end":96},"obj":"diseaseC1279481"}],"relations":[{"id":"50#54#gene371682#87#diseaseC1279481","pred":"associated_with","subj":"7973658-0#50#54#gene3716","obj":"7973658-0#82#87#diseaseC1279481"},{"id":"50#54#gene371692#96#diseaseC1279481","pred":"associated_with","subj":"7973658-0#50#54#gene3716","obj":"7973658-0#92#96#diseaseC1279481"},{"id":"50#54#gene371682#87#diseaseC1279481","pred":"associated_with","subj":"7973658-0#50#54#gene3716","obj":"7973658-0#82#87#diseaseC1279481"},{"id":"50#54#gene371692#96#diseaseC1279481","pred":"associated_with","subj":"7973658-0#50#54#gene3716","obj":"7973658-0#92#96#diseaseC1279481"},{"id":"59#63#gene371882#87#diseaseC1279481","pred":"associated_with","subj":"7973658-0#59#63#gene3718","obj":"7973658-0#82#87#diseaseC1279481"},{"id":"59#63#gene371892#96#diseaseC1279481","pred":"associated_with","subj":"7973658-0#59#63#gene3718","obj":"7973658-0#92#96#diseaseC1279481"},{"id":"59#63#gene371882#87#diseaseC1279481","pred":"associated_with","subj":"7973658-0#59#63#gene3718","obj":"7973658-0#82#87#diseaseC1279481"},{"id":"59#63#gene371892#96#diseaseC1279481","pred":"associated_with","subj":"7973658-0#59#63#gene3718","obj":"7973658-0#92#96#diseaseC1279481"}],"text":"Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID.\nInterleukin-2 (IL-2) signaling requires the dimerization of the IL-2 receptor beta.(IL-2R beta) and common gamma (gamma c) chains. Mutations of gamma c can result in X-linked severe combined immunodeficiency (XSCID). IL-2, IL-4, IL-7 (whose receptors are known to contain gamma c), and IL-9 (whose receptor is shown here to contain gamma c) induced the tyrosine phosphorylation and activation of the Janus family tyrosine kinases Jak1 and Jak3. Jak1 and Jak3 associated with IL-2R beta and gamma c, respectively; IL-2 induced Jak3-IL-2R beta and increased Jak3-gamma c associations. Truncations of gamma c, and a gamma c, point mutation causing moderate X-linked combined immunodeficiency (XCID), decreased gamma c-Jak3 association. Thus, gamma c mutations in at least some XSCID and XCID patients prevent normal Jak3 activation, suggesting that mutations of Jak3 may result in an XSCID-like phenotype."}

{"project":"AIMed","denotations":[{"id":"T1","span":{"begin":15,"end":25},"obj":"protein"},{"id":"T2","span":{"begin":50,"end":54},"obj":"protein"},{"id":"T3","span":{"begin":59,"end":63},"obj":"protein"},{"id":"T4","span":{"begin":98,"end":111},"obj":"protein"},{"id":"T5","span":{"begin":113,"end":117},"obj":"protein"},{"id":"T6","span":{"begin":162,"end":180},"obj":"protein"},{"id":"T7","span":{"begin":182,"end":192},"obj":"protein"},{"id":"T8","span":{"begin":315,"end":319},"obj":"protein"},{"id":"T9","span":{"begin":321,"end":325},"obj":"protein"},{"id":"T10","span":{"begin":327,"end":331},"obj":"protein"},{"id":"T11","span":{"begin":384,"end":388},"obj":"protein"},{"id":"T12","span":{"begin":528,"end":532},"obj":"protein"},{"id":"T13","span":{"begin":537,"end":541},"obj":"protein"},{"id":"T14","span":{"begin":543,"end":547},"obj":"protein"},{"id":"T15","span":{"begin":552,"end":556},"obj":"protein"},{"id":"T16","span":{"begin":573,"end":583},"obj":"protein"},{"id":"T17","span":{"begin":611,"end":615},"obj":"protein"},{"id":"T18","span":{"begin":624,"end":628},"obj":"protein"},{"id":"T19","span":{"begin":629,"end":639},"obj":"protein"},{"id":"T20","span":{"begin":654,"end":658},"obj":"protein"},{"id":"T21","span":{"begin":813,"end":817},"obj":"protein"},{"id":"T22","span":{"begin":911,"end":915},"obj":"protein"},{"id":"T23","span":{"begin":957,"end":961},"obj":"protein"}],"text":"Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID.\nInterleukin-2 (IL-2) signaling requires the dimerization of the IL-2 receptor beta.(IL-2R beta) and common gamma (gamma c) chains. Mutations of gamma c can result in X-linked severe combined immunodeficiency (XSCID). IL-2, IL-4, IL-7 (whose receptors are known to contain gamma c), and IL-9 (whose receptor is shown here to contain gamma c) induced the tyrosine phosphorylation and activation of the Janus family tyrosine kinases Jak1 and Jak3. Jak1 and Jak3 associated with IL-2R beta and gamma c, respectively; IL-2 induced Jak3-IL-2R beta and increased Jak3-gamma c associations. Truncations of gamma c, and a gamma c, point mutation causing moderate X-linked combined immunodeficiency (XCID), decreased gamma c-Jak3 association. Thus, gamma c mutations in at least some XSCID and XCID patients prevent normal Jak3 activation, suggesting that mutations of Jak3 may result in an XSCID-like phenotype."}