PubMed:23228155 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":482,"end":488},"obj":"gene:7535"},{"id":"T1","span":{"begin":182,"end":206},"obj":"disease:C0023473"},{"id":"T2","span":{"begin":343,"end":346},"obj":"gene:2837"},{"id":"T3","span":{"begin":208,"end":211},"obj":"disease:C0023473"},{"id":"T4","span":{"begin":343,"end":346},"obj":"gene:8170"},{"id":"T5","span":{"begin":182,"end":206},"obj":"disease:C0023473"},{"id":"T6","span":{"begin":343,"end":346},"obj":"gene:8170"},{"id":"T7","span":{"begin":208,"end":211},"obj":"disease:C0023473"},{"id":"T8","span":{"begin":343,"end":346},"obj":"gene:2837"},{"id":"T9","span":{"begin":182,"end":206},"obj":"disease:C0023473"},{"id":"T10","span":{"begin":504,"end":507},"obj":"gene:2837"},{"id":"T11","span":{"begin":632,"end":635},"obj":"disease:C0023473"},{"id":"T12","span":{"begin":504,"end":507},"obj":"gene:8170"},{"id":"T13","span":{"begin":632,"end":635},"obj":"disease:C0023473"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Alternative expression of TCRζ related genes in patients with chronic myeloid leukemia.\nA previous study has demonstrated a significant decrease in the TCRζ gene expression level in chronic myeloid leukemia (CML); thus, we further investigated the expression of TCRζ-regulating factors, the distribution of the TCRζ 3' untranslated region (3'-UTR) splice variants, and the expression level and correlation of the alternative splicing factor/splicing factor 2 (ASF/SF-2), FcεRIγ and ZAP-70 genes. TCRζ 3'-UTR splice variants were identified in peripheral blood mononuclear cells (PBMCs) from 14 healthy individuals, 40 patients with CML and 22 patients with CML in complete remission (CML-CR) by RT-PCR. The expression level of the TCRζ, FcεRIγ, ASF/SF-2 and ZAP-70 genes was analyzed by real-time quantitative PCR. While the expression of TCRζ gene in the CML group was significantly lower than that in the healthy individual and CML-CR groups, a significantly higher expression of the FceRIγ and ASF/SF-2 genes was found in the CML group. Two types of splicing forms were detected in all of the healthy individual CML-CR cases: wild type (WT) TCRζ 3'-UTR and alternatively splieced (AS) TCRζ 3'-UTR which have been alternatively splieced in the WT TCRζ 3'-UTR . However, 35% of the CML cases contained only the wild type TCRζ 3'-UTR isoform. Based on the TCRζ 3'-UTR isoform expression characteristic, we divided the patients with CML into two subgroups: the WT+AS- CML group, containing patients that express only the wild type TCRζ 3'-UTR, and the WT+AS+ CML group, which contained patients that expressed two TCRζ 3'-UTR isoforms. A significantly different ASF/SF-2 and FcεRIγ gene expression pattern was found between the WT+AS- and WT+AS+CML groups. We concluded that defective TCRζ expression may be characterized in the WT+AS-and WT+AS+CML subgroups by the different gene expression pattern. The overexpression of ASF/SF2, which alternatively splices the TCRζ 3'-UTR, is thought to participate in feedback regulation. The characteristics of TCRζ 3'-UTR alternative splicing may be a novel immunological marker for the evaluation of the CML immune status."}

{"project":"Allie","denotations":[{"id":"SS1_23228155_1_0","span":{"begin":182,"end":206},"obj":"expanded"},{"id":"SS2_23228155_1_0","span":{"begin":208,"end":211},"obj":"abbr"},{"id":"SS1_23228155_1_1","span":{"begin":316,"end":338},"obj":"expanded"},{"id":"SS2_23228155_1_1","span":{"begin":340,"end":346},"obj":"abbr"},{"id":"SS1_23228155_2_0","span":{"begin":543,"end":577},"obj":"expanded"},{"id":"SS2_23228155_2_0","span":{"begin":579,"end":584},"obj":"abbr"},{"id":"SS1_23228155_2_1","span":{"begin":657,"end":682},"obj":"expanded"},{"id":"SS2_23228155_2_1","span":{"begin":684,"end":690},"obj":"abbr"},{"id":"SS1_23228155_5_0","span":{"begin":1129,"end":1138},"obj":"expanded"},{"id":"SS2_23228155_5_0","span":{"begin":1140,"end":1142},"obj":"abbr"},{"id":"SS1_23228155_5_1","span":{"begin":1160,"end":1182},"obj":"expanded"},{"id":"SS2_23228155_5_1","span":{"begin":1184,"end":1186},"obj":"abbr"}],"relations":[{"id":"AE1_23228155_1_0","pred":"abbreviatedTo","subj":"SS1_23228155_1_0","obj":"SS2_23228155_1_0"},{"id":"AE1_23228155_1_1","pred":"abbreviatedTo","subj":"SS1_23228155_1_1","obj":"SS2_23228155_1_1"},{"id":"AE1_23228155_2_0","pred":"abbreviatedTo","subj":"SS1_23228155_2_0","obj":"SS2_23228155_2_0"},{"id":"AE1_23228155_2_1","pred":"abbreviatedTo","subj":"SS1_23228155_2_1","obj":"SS2_23228155_2_1"},{"id":"AE1_23228155_5_0","pred":"abbreviatedTo","subj":"SS1_23228155_5_0","obj":"SS2_23228155_5_0"},{"id":"AE1_23228155_5_1","pred":"abbreviatedTo","subj":"SS1_23228155_5_1","obj":"SS2_23228155_5_1"}],"text":"Alternative expression of TCRζ related genes in patients with chronic myeloid leukemia.\nA previous study has demonstrated a significant decrease in the TCRζ gene expression level in chronic myeloid leukemia (CML); thus, we further investigated the expression of TCRζ-regulating factors, the distribution of the TCRζ 3' untranslated region (3'-UTR) splice variants, and the expression level and correlation of the alternative splicing factor/splicing factor 2 (ASF/SF-2), FcεRIγ and ZAP-70 genes. TCRζ 3'-UTR splice variants were identified in peripheral blood mononuclear cells (PBMCs) from 14 healthy individuals, 40 patients with CML and 22 patients with CML in complete remission (CML-CR) by RT-PCR. The expression level of the TCRζ, FcεRIγ, ASF/SF-2 and ZAP-70 genes was analyzed by real-time quantitative PCR. While the expression of TCRζ gene in the CML group was significantly lower than that in the healthy individual and CML-CR groups, a significantly higher expression of the FceRIγ and ASF/SF-2 genes was found in the CML group. Two types of splicing forms were detected in all of the healthy individual CML-CR cases: wild type (WT) TCRζ 3'-UTR and alternatively splieced (AS) TCRζ 3'-UTR which have been alternatively splieced in the WT TCRζ 3'-UTR . However, 35% of the CML cases contained only the wild type TCRζ 3'-UTR isoform. Based on the TCRζ 3'-UTR isoform expression characteristic, we divided the patients with CML into two subgroups: the WT+AS- CML group, containing patients that express only the wild type TCRζ 3'-UTR, and the WT+AS+ CML group, which contained patients that expressed two TCRζ 3'-UTR isoforms. A significantly different ASF/SF-2 and FcεRIγ gene expression pattern was found between the WT+AS- and WT+AS+CML groups. We concluded that defective TCRζ expression may be characterized in the WT+AS-and WT+AS+CML subgroups by the different gene expression pattern. The overexpression of ASF/SF2, which alternatively splices the TCRζ 3'-UTR, is thought to participate in feedback regulation. The characteristics of TCRζ 3'-UTR alternative splicing may be a novel immunological marker for the evaluation of the CML immune status."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":182,"end":206},"obj":"HP_0005506"},{"id":"T2","span":{"begin":190,"end":206},"obj":"HP_0012324"},{"id":"T3","span":{"begin":198,"end":206},"obj":"HP_0001909"}],"text":"Alternative expression of TCRζ related genes in patients with chronic myeloid leukemia.\nA previous study has demonstrated a significant decrease in the TCRζ gene expression level in chronic myeloid leukemia (CML); thus, we further investigated the expression of TCRζ-regulating factors, the distribution of the TCRζ 3' untranslated region (3'-UTR) splice variants, and the expression level and correlation of the alternative splicing factor/splicing factor 2 (ASF/SF-2), FcεRIγ and ZAP-70 genes. TCRζ 3'-UTR splice variants were identified in peripheral blood mononuclear cells (PBMCs) from 14 healthy individuals, 40 patients with CML and 22 patients with CML in complete remission (CML-CR) by RT-PCR. The expression level of the TCRζ, FcεRIγ, ASF/SF-2 and ZAP-70 genes was analyzed by real-time quantitative PCR. While the expression of TCRζ gene in the CML group was significantly lower than that in the healthy individual and CML-CR groups, a significantly higher expression of the FceRIγ and ASF/SF-2 genes was found in the CML group. Two types of splicing forms were detected in all of the healthy individual CML-CR cases: wild type (WT) TCRζ 3'-UTR and alternatively splieced (AS) TCRζ 3'-UTR which have been alternatively splieced in the WT TCRζ 3'-UTR . However, 35% of the CML cases contained only the wild type TCRζ 3'-UTR isoform. Based on the TCRζ 3'-UTR isoform expression characteristic, we divided the patients with CML into two subgroups: the WT+AS- CML group, containing patients that express only the wild type TCRζ 3'-UTR, and the WT+AS+ CML group, which contained patients that expressed two TCRζ 3'-UTR isoforms. A significantly different ASF/SF-2 and FcεRIγ gene expression pattern was found between the WT+AS- and WT+AS+CML groups. We concluded that defective TCRζ expression may be characterized in the WT+AS-and WT+AS+CML subgroups by the different gene expression pattern. The overexpression of ASF/SF2, which alternatively splices the TCRζ 3'-UTR, is thought to participate in feedback regulation. The characteristics of TCRζ 3'-UTR alternative splicing may be a novel immunological marker for the evaluation of the CML immune status."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23228155-1#394#400#gene7535","span":{"begin":482,"end":488},"obj":"gene7535"},{"id":"23228155-1#94#118#diseaseC0023473","span":{"begin":182,"end":206},"obj":"diseaseC0023473"},{"id":"23228155-1#120#123#diseaseC0023473","span":{"begin":208,"end":211},"obj":"diseaseC0023473"},{"id":"23228155-4#171#177#gene2207","span":{"begin":986,"end":992},"obj":"gene2207"},{"id":"23228155-4#115#118#diseaseC0023473","span":{"begin":930,"end":933},"obj":"diseaseC0023473"},{"id":"23228155-4#214#217#diseaseC0023473","span":{"begin":1029,"end":1032},"obj":"diseaseC0023473"},{"id":"23228155-8#26#29#gene416","span":{"begin":1661,"end":1664},"obj":"gene416"},{"id":"23228155-8#26#29#gene5710","span":{"begin":1661,"end":1664},"obj":"gene5710"},{"id":"23228155-8#26#29#gene6426","span":{"begin":1661,"end":1664},"obj":"gene6426"},{"id":"23228155-8#109#112#diseaseC0023473","span":{"begin":1744,"end":1747},"obj":"diseaseC0023473"}],"relations":[{"id":"394#400#gene753594#118#diseaseC0023473","pred":"associated_with","subj":"23228155-1#394#400#gene7535","obj":"23228155-1#94#118#diseaseC0023473"},{"id":"394#400#gene7535120#123#diseaseC0023473","pred":"associated_with","subj":"23228155-1#394#400#gene7535","obj":"23228155-1#120#123#diseaseC0023473"},{"id":"171#177#gene2207115#118#diseaseC0023473","pred":"associated_with","subj":"23228155-4#171#177#gene2207","obj":"23228155-4#115#118#diseaseC0023473"},{"id":"171#177#gene2207214#217#diseaseC0023473","pred":"associated_with","subj":"23228155-4#171#177#gene2207","obj":"23228155-4#214#217#diseaseC0023473"},{"id":"26#29#gene416109#112#diseaseC0023473","pred":"associated_with","subj":"23228155-8#26#29#gene416","obj":"23228155-8#109#112#diseaseC0023473"},{"id":"26#29#gene5710109#112#diseaseC0023473","pred":"associated_with","subj":"23228155-8#26#29#gene5710","obj":"23228155-8#109#112#diseaseC0023473"},{"id":"26#29#gene6426109#112#diseaseC0023473","pred":"associated_with","subj":"23228155-8#26#29#gene6426","obj":"23228155-8#109#112#diseaseC0023473"}],"text":"Alternative expression of TCRζ related genes in patients with chronic myeloid leukemia.\nA previous study has demonstrated a significant decrease in the TCRζ gene expression level in chronic myeloid leukemia (CML); thus, we further investigated the expression of TCRζ-regulating factors, the distribution of the TCRζ 3' untranslated region (3'-UTR) splice variants, and the expression level and correlation of the alternative splicing factor/splicing factor 2 (ASF/SF-2), FcεRIγ and ZAP-70 genes. TCRζ 3'-UTR splice variants were identified in peripheral blood mononuclear cells (PBMCs) from 14 healthy individuals, 40 patients with CML and 22 patients with CML in complete remission (CML-CR) by RT-PCR. The expression level of the TCRζ, FcεRIγ, ASF/SF-2 and ZAP-70 genes was analyzed by real-time quantitative PCR. While the expression of TCRζ gene in the CML group was significantly lower than that in the healthy individual and CML-CR groups, a significantly higher expression of the FceRIγ and ASF/SF-2 genes was found in the CML group. Two types of splicing forms were detected in all of the healthy individual CML-CR cases: wild type (WT) TCRζ 3'-UTR and alternatively splieced (AS) TCRζ 3'-UTR which have been alternatively splieced in the WT TCRζ 3'-UTR . However, 35% of the CML cases contained only the wild type TCRζ 3'-UTR isoform. Based on the TCRζ 3'-UTR isoform expression characteristic, we divided the patients with CML into two subgroups: the WT+AS- CML group, containing patients that express only the wild type TCRζ 3'-UTR, and the WT+AS+ CML group, which contained patients that expressed two TCRζ 3'-UTR isoforms. A significantly different ASF/SF-2 and FcεRIγ gene expression pattern was found between the WT+AS- and WT+AS+CML groups. We concluded that defective TCRζ expression may be characterized in the WT+AS-and WT+AS+CML subgroups by the different gene expression pattern. The overexpression of ASF/SF2, which alternatively splices the TCRζ 3'-UTR, is thought to participate in feedback regulation. The characteristics of TCRζ 3'-UTR alternative splicing may be a novel immunological marker for the evaluation of the CML immune status."}