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PubMed:22820256 JSONTXT

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PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 78-151 DRI_Background denotes Medulloblastomas are the most common malignant brain tumours in children.
T2 152-326 DRI_Challenge denotes Identifying and understanding the genetic events that drive these tumours is critical for the development of more effective diagnostic, prognostic and therapeutic strategies.
T3 327-472 DRI_Background denotes Recently, our group and others described distinct molecular subtypes of medulloblastoma on the basis of transcriptional and copy number profiles.
T4 473-631 DRI_Approach denotes Here we use whole-exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs.
T5 632-780 DRI_Outcome denotes Overall, medulloblastomas have low mutation rates consistent with other paediatric tumours, with a median of 0.35 non-silent mutations per megabase.
T6 781-964 DRI_Approach denotes We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53.
T7 965-1161 DRI_Background denotes Recurrent somatic mutations were newly identified in an RNA helicase gene, DDX3X, often concurrent with CTNNB1 mutations, and in the nuclear co-repressor (N-CoR) complex genes GPS2, BCOR and LDB1.
T8 1162-1319 DRI_Outcome denotes We show that mutant DDX3X potentiates transactivation of a TCF promoter and enhances cell viability in combination with mutant, but not wild-type, β-catenin.
T9 1320-1606 DRI_Outcome denotes Together, our study reveals the alteration of WNT, hedgehog, histone methyltransferase and now N-CoR pathways across medulloblastomas and within specific subtypes of this disease, and nominates the RNA helicase DDX3X as a component of pathogenic β-catenin signalling in medulloblastoma.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 926-932 gene:1499 denotes CTNNB1
T1 902-917 disease:C0025149 denotes medulloblastoma
R1 T0 T1 associated_with CTNNB1,medulloblastoma

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 78-94 HP_0002885 denotes Medulloblastomas
T2 131-138 HP_0002664 denotes tumours
T3 218-225 HP_0002664 denotes tumours
T4 399-414 HP_0002885 denotes medulloblastoma
T5 544-561 HP_0001428 denotes somatic mutations
T6 602-617 HP_0002885 denotes medulloblastoma
T7 641-657 HP_0002885 denotes medulloblastomas
T8 715-722 HP_0002664 denotes tumours
T9 902-917 HP_0002885 denotes medulloblastoma
T10 975-992 HP_0001428 denotes somatic mutations
T11 1437-1453 HP_0002885 denotes medulloblastomas
T12 1590-1605 HP_0002885 denotes medulloblastoma

Allie

Id Subject Object Predicate Lexical cue
SS1_22820256_7_0 1098-1118 expanded denotes nuclear co-repressor
SS2_22820256_7_0 1120-1125 abbr denotes N-CoR
AE1_22820256_7_0 SS1_22820256_7_0 SS2_22820256_7_0 abbreviatedTo nuclear co-repressor,N-CoR

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22820256-6#145#151#gene1499 926-932 gene1499 denotes CTNNB1
22820256-6#121#136#diseaseC0025149 902-917 diseaseC0025149 denotes medulloblastoma
22820256-9#198#210#gene55308 1518-1530 gene55308 denotes RNA helicase
22820256-9#198#210#gene9879 1518-1530 gene9879 denotes RNA helicase
22820256-9#198#210#gene8449 1518-1530 gene8449 denotes RNA helicase
22820256-9#211#216#gene1654 1531-1536 gene1654 denotes DDX3X
22820256-9#270#285#diseaseC0025149 1590-1605 diseaseC0025149 denotes medulloblastoma
145#151#gene1499121#136#diseaseC0025149 22820256-6#145#151#gene1499 22820256-6#121#136#diseaseC0025149 associated_with CTNNB1,medulloblastoma
198#210#gene55308270#285#diseaseC0025149 22820256-9#198#210#gene55308 22820256-9#270#285#diseaseC0025149 associated_with RNA helicase,medulloblastoma
198#210#gene9879270#285#diseaseC0025149 22820256-9#198#210#gene9879 22820256-9#270#285#diseaseC0025149 associated_with RNA helicase,medulloblastoma
198#210#gene8449270#285#diseaseC0025149 22820256-9#198#210#gene8449 22820256-9#270#285#diseaseC0025149 associated_with RNA helicase,medulloblastoma
211#216#gene1654270#285#diseaseC0025149 22820256-9#211#216#gene1654 22820256-9#270#285#diseaseC0025149 associated_with DDX3X,medulloblastoma

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2650 1518-1530 gene:55308 denotes RNA helicase
T2651 1590-1605 disease:C0025149 denotes medulloblastoma
R1 T2650 T2651 associated_with RNA helicase,medulloblastoma
R2 T2650 T2651 associated_with RNA helicase,medulloblastoma
R3 T2650 T2651 associated_with RNA helicase,medulloblastoma

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-77 Sentence denotes Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.
TextSentencer_T2 78-151 Sentence denotes Medulloblastomas are the most common malignant brain tumours in children.
TextSentencer_T3 152-326 Sentence denotes Identifying and understanding the genetic events that drive these tumours is critical for the development of more effective diagnostic, prognostic and therapeutic strategies.
TextSentencer_T4 327-472 Sentence denotes Recently, our group and others described distinct molecular subtypes of medulloblastoma on the basis of transcriptional and copy number profiles.
TextSentencer_T5 473-631 Sentence denotes Here we use whole-exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs.
TextSentencer_T6 632-780 Sentence denotes Overall, medulloblastomas have low mutation rates consistent with other paediatric tumours, with a median of 0.35 non-silent mutations per megabase.
TextSentencer_T7 781-964 Sentence denotes We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53.
TextSentencer_T8 965-1161 Sentence denotes Recurrent somatic mutations were newly identified in an RNA helicase gene, DDX3X, often concurrent with CTNNB1 mutations, and in the nuclear co-repressor (N-CoR) complex genes GPS2, BCOR and LDB1.
TextSentencer_T9 1162-1319 Sentence denotes We show that mutant DDX3X potentiates transactivation of a TCF promoter and enhances cell viability in combination with mutant, but not wild-type, β-catenin.
TextSentencer_T10 1320-1606 Sentence denotes Together, our study reveals the alteration of WNT, hedgehog, histone methyltransferase and now N-CoR pathways across medulloblastomas and within specific subtypes of this disease, and nominates the RNA helicase DDX3X as a component of pathogenic β-catenin signalling in medulloblastoma.
T1 0-77 Sentence denotes Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.
T2 78-151 Sentence denotes Medulloblastomas are the most common malignant brain tumours in children.
T3 152-326 Sentence denotes Identifying and understanding the genetic events that drive these tumours is critical for the development of more effective diagnostic, prognostic and therapeutic strategies.
T4 327-472 Sentence denotes Recently, our group and others described distinct molecular subtypes of medulloblastoma on the basis of transcriptional and copy number profiles.
T5 473-631 Sentence denotes Here we use whole-exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs.
T6 632-780 Sentence denotes Overall, medulloblastomas have low mutation rates consistent with other paediatric tumours, with a median of 0.35 non-silent mutations per megabase.
T7 781-964 Sentence denotes We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53.
T8 965-1161 Sentence denotes Recurrent somatic mutations were newly identified in an RNA helicase gene, DDX3X, often concurrent with CTNNB1 mutations, and in the nuclear co-repressor (N-CoR) complex genes GPS2, BCOR and LDB1.
T9 1162-1319 Sentence denotes We show that mutant DDX3X potentiates transactivation of a TCF promoter and enhances cell viability in combination with mutant, but not wild-type, β-catenin.
T10 1320-1606 Sentence denotes Together, our study reveals the alteration of WNT, hedgehog, histone methyltransferase and now N-CoR pathways across medulloblastomas and within specific subtypes of this disease, and nominates the RNA helicase DDX3X as a component of pathogenic β-catenin signalling in medulloblastoma.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 125-130 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 125-130 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain