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PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 144-601 OBJECTIVE denotes Malignant peripheral nerve sheath tumor (MPNST) can arise sporadically or in association with neurofibromatosis type 1. Deletions at the 9p21 locus have been reported in these tumors. To additionally characterize the status of this chromosomal region, in this study we performed a comprehensive, mostly PCR-based molecular analysis of the three tumor suppressor genes p15(INK4b), p14(ARF) and p16(INK4a) located at the 9p21 locus in 26 cryopreserved MPNSTs.
T2 623-852 METHODS denotes Fourteen neurofibromatosis type 1-related and 12 sporadic cases were investigated for homozygous deletion coupled with fluorescent in situ hybridization, promoter methylation, and mutational analysis, as well as m-RNA expression.
T3 862-1581 RESULTS denotes The results showed that an inactivation of one or more genes occurred in 77% of MPNSTs and was mainly achieved through homozygous deletion (46%), which, in turn, encompassed all of the three tandemly linked genes in 83% of the deleted cases. Promoter methylation was at a less extent involved in gene silencing (18%), and no mutations were found. Loss of function at DNA level strongly correlated with loss of mRNA expression accounting for 80% of the cases. Because of the close relationship between p14(ARF) and TP53 and between p15(INK4b)/p16(INK4a) and Rb, these results support a model of a coinactivation of TP53 and Rb pathways in 75% of MPNSTs, with functional consequences on cell growth control and apoptosis.
T4 1595-1800 CONCLUSIONS denotes The inactivation of the 9p21 locus is a frequent and peculiar hallmark of MPNST genetic profile leading also to an impaired apoptosis that could be taken into account in treatment planning of these tumors.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 144-183 HP_0100697 denotes Malignant peripheral nerve sheath tumor
T2 178-183 HP_0002664 denotes tumor
T3 238-255 HP_0001067 denotes neurofibromatosis
T4 320-326 HP_0002664 denotes tumors
T5 489-494 HP_0002664 denotes tumor

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
14519636-0#22#30#gene1029 22-30 gene1029 denotes p16INK4a
14519636-0#60#84#diseaseC0027831 60-84 diseaseC0027831 denotes neurofibromatosis type 1
14519636-8#55#59#gene7157 1376-1380 gene7157 denotes TP53
14519636-8#72#81#gene1030 1393-1402 gene1030 denotes p15(INK4b
14519636-8#87#92#gene1029 1408-1413 gene1029 denotes INK4a
14519636-8#155#159#gene7157 1476-1480 gene7157 denotes TP53
14519636-8#186#191#diseaseC0751690 1507-1512 diseaseC0751690 denotes MPNST
22#30#gene102960#84#diseaseC0027831 14519636-0#22#30#gene1029 14519636-0#60#84#diseaseC0027831 associated_with p16INK4a,neurofibromatosis type 1
55#59#gene7157186#191#diseaseC0751690 14519636-8#55#59#gene7157 14519636-8#186#191#diseaseC0751690 associated_with TP53,MPNST
72#81#gene1030186#191#diseaseC0751690 14519636-8#72#81#gene1030 14519636-8#186#191#diseaseC0751690 associated_with p15(INK4b,MPNST
87#92#gene1029186#191#diseaseC0751690 14519636-8#87#92#gene1029 14519636-8#186#191#diseaseC0751690 associated_with INK4a,MPNST
155#159#gene7157186#191#diseaseC0751690 14519636-8#155#159#gene7157 14519636-8#186#191#diseaseC0751690 associated_with TP53,MPNST

DisGeNET

Id Subject Object Predicate Lexical cue
T0 22-30 gene:1029 denotes p16INK4a
T1 60-84 disease:C0027831 denotes neurofibromatosis type 1
R1 T0 T1 associated_with p16INK4a,neurofibromatosis type 1