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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-95 Sentence denotes Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
TextSentencer_T2 96-195 Sentence denotes In humans, mutations in SOX9 result in a skeletal malformation syndrome, campomelic dysplasia (CD).
TextSentencer_T3 196-261 Sentence denotes The present study investigated two major classes of CD mutations:
TextSentencer_T4 262-397 Sentence denotes 1) point mutations in the high mobility group (HMG) domain and 2) truncations and frameshifts that alter the C terminus of the protein.
TextSentencer_T5 398-562 Sentence denotes We analyzed the effect of one novel mutation and three other point mutations in the HMG domain of SOX9 on the DNA binding and DNA bending properties of the protein.
TextSentencer_T6 563-743 Sentence denotes The F12L mutant HMG domain shows negligible DNA binding, the H65Y mutant shows minimal DNA binding, whereas the A19V mutant shows near wild type DNA binding and bends DNA normally.
TextSentencer_T7 744-840 Sentence denotes Interestingly, the P70R mutant has altered DNA binding specificity, but also bends DNA normally.
TextSentencer_T8 841-940 Sentence denotes The effects of the point mutations were interpreted using a molecular model of the SOX9 HMG domain.
TextSentencer_T9 941-1161 Sentence denotes We analyzed the effects upon transcription of mutations resembling the truncation and frameshift mutations in CD patients, and found that progressive deletion of the C terminus causes progressive loss of transactivation.
TextSentencer_T10 1162-1346 Sentence denotes Maximal transactivation by SOX9 requires both the C-terminal domain rich in proline, glutamine, and serine and the adjacent domain composed entirely of proline, glutamine, and alanine.
TextSentencer_T11 1347-1555 Sentence denotes Thus, CD arises by mutations that interfere with DNA binding by SOX9 or truncate the C-terminal transactivation domain and thereby impede the ability of SOX9 to activate target genes during organ development.
T1 0-95 Sentence denotes Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
T2 96-195 Sentence denotes In humans, mutations in SOX9 result in a skeletal malformation syndrome, campomelic dysplasia (CD).
T3 196-261 Sentence denotes The present study investigated two major classes of CD mutations:
T4 262-397 Sentence denotes 1) point mutations in the high mobility group (HMG) domain and 2) truncations and frameshifts that alter the C terminus of the protein.
T5 398-562 Sentence denotes We analyzed the effect of one novel mutation and three other point mutations in the HMG domain of SOX9 on the DNA binding and DNA bending properties of the protein.
T6 563-743 Sentence denotes The F12L mutant HMG domain shows negligible DNA binding, the H65Y mutant shows minimal DNA binding, whereas the A19V mutant shows near wild type DNA binding and bends DNA normally.
T7 744-840 Sentence denotes Interestingly, the P70R mutant has altered DNA binding specificity, but also bends DNA normally.
T8 841-940 Sentence denotes The effects of the point mutations were interpreted using a molecular model of the SOX9 HMG domain.
T9 941-1161 Sentence denotes We analyzed the effects upon transcription of mutations resembling the truncation and frameshift mutations in CD patients, and found that progressive deletion of the C terminus causes progressive loss of transactivation.
T10 1162-1346 Sentence denotes Maximal transactivation by SOX9 requires both the C-terminal domain rich in proline, glutamine, and serine and the adjacent domain composed entirely of proline, glutamine, and alanine.
T11 1347-1555 Sentence denotes Thus, CD arises by mutations that interfere with DNA binding by SOX9 or truncate the C-terminal transactivation domain and thereby impede the ability of SOX9 to activate target genes during organ development.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 137-158 HP_0000924 denotes skeletal malformation

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 169-189 ORDO:140 denotes campomelic dysplasia
TI1 74-94 ORDO:140 denotes campomelic dysplasia

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1537-1542 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organ

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1537-1542 http://purl.obolibrary.org/obo/UBERON_0000062 denotes organ

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 74-94 Disease denotes campomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0007251
T2 146-167 Disease denotes malformation syndrome http://purl.obolibrary.org/obo/MONDO_0019755
T3 169-189 Disease denotes campomelic dysplasia http://purl.obolibrary.org/obo/MONDO_0007251
T4 191-193 Disease denotes CD http://purl.obolibrary.org/obo/MONDO_0007251
T5 248-250 Disease denotes CD http://purl.obolibrary.org/obo/MONDO_0007251
T6 724-729 Disease denotes bends http://purl.obolibrary.org/obo/MONDO_0020797
T7 821-826 Disease denotes bends http://purl.obolibrary.org/obo/MONDO_0020797
T8 1051-1053 Disease denotes CD http://purl.obolibrary.org/obo/MONDO_0007251
T9 1353-1355 Disease denotes CD http://purl.obolibrary.org/obo/MONDO_0007251

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1537-1542 Body_part denotes organ http://purl.obolibrary.org/obo/UBERON_0000062|http://purl.obolibrary.org/obo/UBERON_0003103