PubMed:7802009 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":160},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":161,"end":520},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":521,"end":769},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":770,"end":856},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":857,"end":971},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":160},"obj":"Sentence"},{"id":"T2","span":{"begin":161,"end":520},"obj":"Sentence"},{"id":"T3","span":{"begin":521,"end":769},"obj":"Sentence"},{"id":"T4","span":{"begin":770,"end":856},"obj":"Sentence"},{"id":"T5","span":{"begin":857,"end":971},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":246,"end":249},"obj":"gene:1756"},{"id":"T1","span":{"begin":305,"end":332},"obj":"disease:C0013264"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"7802009-1#85#88#gene1756","span":{"begin":246,"end":249},"obj":"gene1756"},{"id":"7802009-1#144#171#diseaseC0013264","span":{"begin":305,"end":332},"obj":"diseaseC0013264"}],"relations":[{"id":"85#88#gene1756144#171#diseaseC0013264","pred":"associated_with","subj":"7802009-1#85#88#gene1756","obj":"7802009-1#144#171#diseaseC0013264"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":99,"end":117},"obj":"HP:0003560"},{"id":"AB1","span":{"begin":314,"end":332},"obj":"HP:0003560"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":246,"end":249},"obj":"ORDO:98896"},{"id":"TI1","span":{"begin":90,"end":117},"obj":"ORDO:98896"},{"id":"AB2","span":{"begin":305,"end":332},"obj":"ORDO:98896"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":90,"end":117},"obj":"SpecificDisease:D020388"},{"id":"T2","span":{"begin":246,"end":249},"obj":"Modifier:D020388"},{"id":"T3","span":{"begin":305,"end":332},"obj":"SpecificDisease:D020388"},{"id":"T4","span":{"begin":821,"end":838},"obj":"DiseaseClass:D040181"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T4591","span":{"begin":90,"end":117},"obj":"SpecificDisease"},{"id":"T4592","span":{"begin":246,"end":249},"obj":"Modifier"},{"id":"T4593","span":{"begin":305,"end":332},"obj":"SpecificDisease"},{"id":"T4594","span":{"begin":821,"end":838},"obj":"DiseaseClass"}],"attributes":[{"id":"A4591","pred":"database_id","subj":"T4591","obj":"D020388"},{"id":"A4592","pred":"database_id","subj":"T4592","obj":"D020388"},{"id":"A4593","pred":"database_id","subj":"T4593","obj":"D020388"},{"id":"A4594","pred":"database_id","subj":"T4594","obj":"D040181"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T4591","span":{"begin":90,"end":117},"obj":"SpecificDisease"},{"id":"T4592","span":{"begin":246,"end":249},"obj":"Modifier"},{"id":"T4593","span":{"begin":305,"end":332},"obj":"SpecificDisease"},{"id":"T4594","span":{"begin":821,"end":838},"obj":"DiseaseClass"}],"attributes":[{"id":"A4591","pred":"database_id","subj":"T4591","obj":"D020388"},{"id":"A4592","pred":"database_id","subj":"T4592","obj":"D020388"},{"id":"A4593","pred":"database_id","subj":"T4593","obj":"D020388"},{"id":"A4594","pred":"database_id","subj":"T4594","obj":"D040181"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":90,"end":117},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":305,"end":332},"obj":"SpecificDisease"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":90,"end":117},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":305,"end":332},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":821,"end":838},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":955,"end":970},"obj":"DiseaseClass"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":90,"end":117},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":305,"end":332},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":821,"end":838},"obj":"Modifier"},{"id":"T4","span":{"begin":955,"end":970},"obj":"Modifier"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":90,"end":117},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":305,"end":332},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":821,"end":838},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":955,"end":970},"obj":"DiseaseClass"}],"text":"Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.\nA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits."}