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PubMed:10323252 JSONTXT 17 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-122 Sentence denotes Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
T1 0-122 Sentence denotes Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
TextSentencer_T2 123-397 Sentence denotes Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.
T2 123-397 Sentence denotes Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.
TextSentencer_T3 398-605 Sentence denotes The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in a wide variety of tissues, including skeletal and cardiac muscle.
T3 398-605 Sentence denotes The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in a wide variety of tissues, including skeletal and cardiac muscle.
TextSentencer_T4 606-684 Sentence denotes Mutations spanning the emerin gene have been identified in patients with EDMD.
T4 606-684 Sentence denotes Mutations spanning the emerin gene have been identified in patients with EDMD.
TextSentencer_T5 685-807 Sentence denotes We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients.
T5 685-807 Sentence denotes We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients.
TextSentencer_T6 808-926 Sentence denotes These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine.
T6 808-926 Sentence denotes These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine.
TextSentencer_T7 927-1160 Sentence denotes Biochemical analysis has demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from that of wild-type emerin, but that they have weakened interactions with nuclear lamina components.
T7 927-1160 Sentence denotes Biochemical analysis has demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from that of wild-type emerin, but that they have weakened interactions with nuclear lamina components.
TextSentencer_T8 1161-1445 Sentence denotes In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement.
T8 1161-1445 Sentence denotes In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement.
TextSentencer_T9 1446-1569 Sentence denotes This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD.
T9 1446-1569 Sentence denotes This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD.
TextSentencer_T10 1570-1670 Sentence denotes These studies demonstrate the importance of proline 183 for the proper structure/function of emerin.
T10 1570-1670 Sentence denotes These studies demonstrate the importance of proline 183 for the proper structure/function of emerin.