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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
TextSentencer_T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
TextSentencer_T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
TextSentencer_T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
TextSentencer_T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
TextSentencer_T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
TextSentencer_T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
TextSentencer_T8 796-911 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
T8 796-911 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
TextSentencer_T9 912-1109 Sentence denotes A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation.
T9 912-1109 Sentence denotes A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation.
TextSentencer_T10 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
T10 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
TextSentencer_T11 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
T11 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
TextSentencer_T12 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
T12 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
TextSentencer_T13 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
T13 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
TextSentencer_T14 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.
T14 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.