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PubMed:10446171 JSONTXT 27 Projects

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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.
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).
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:
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.
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.
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.
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.
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.
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.
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.
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.
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.