> top > docs > PubMed:2760209 > annotations

PubMed:2760209 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-51 Sentence denotes Molecular analysis of a female Lesch-Nyhan patient.
TextSentencer_T2 52-209 Sentence denotes We report the identification of a female patient with the X-linked recessive Lesch-Nyhan syndrome (hypoxanthine phosphoribosyltransferase [HPRT] deficiency).
TextSentencer_T3 210-390 Sentence denotes Cytogenetic and carrier studies revealed structurally normal chromosomes for this patient and her parents and demonstrated that this mutation arose through a de novo gametic event.
TextSentencer_T4 391-616 Sentence denotes Comparison of this patient's DNA with the DNA of her parents revealed that a microdeletion, which occurred within a maternal gamete and involved the entire HPRT gene, was partially responsible for the disease in this patient.
TextSentencer_T5 617-964 Sentence denotes Somatic cell hybrids, generated to separate maternal and paternal X chromosomes, showed that expression of two additional X-linked enzymes, phosphoglycerate kinase and glucose-6-phosphate dehydrogenase, were expressed only in cells that contained the maternal X chromosome, suggesting the presence of a functionally inactive paternal X chromosome.
TextSentencer_T6 965-1246 Sentence denotes Furthermore, comparison of methylation patterns within a region of the HPRT gene known to be important in gene regulation revealed differences between DNA from the father and the patient, in keeping with an active HPRT locus in the father and an inactive HPRT locus in the patient.
TextSentencer_T7 1247-1485 Sentence denotes Together these data indicate that nonrandom inactivation of the cytogenetically normal paternal X chromosome and a microdeletion of the HPRT gene on an active maternal X chromosome were responsible for the absence of HPRT in this patient.
T1 0-51 Sentence denotes Molecular analysis of a female Lesch-Nyhan patient.
T2 52-209 Sentence denotes We report the identification of a female patient with the X-linked recessive Lesch-Nyhan syndrome (hypoxanthine phosphoribosyltransferase [HPRT] deficiency).
T3 210-390 Sentence denotes Cytogenetic and carrier studies revealed structurally normal chromosomes for this patient and her parents and demonstrated that this mutation arose through a de novo gametic event.
T4 391-616 Sentence denotes Comparison of this patient's DNA with the DNA of her parents revealed that a microdeletion, which occurred within a maternal gamete and involved the entire HPRT gene, was partially responsible for the disease in this patient.
T5 617-964 Sentence denotes Somatic cell hybrids, generated to separate maternal and paternal X chromosomes, showed that expression of two additional X-linked enzymes, phosphoglycerate kinase and glucose-6-phosphate dehydrogenase, were expressed only in cells that contained the maternal X chromosome, suggesting the presence of a functionally inactive paternal X chromosome.
T6 965-1246 Sentence denotes Furthermore, comparison of methylation patterns within a region of the HPRT gene known to be important in gene regulation revealed differences between DNA from the father and the patient, in keeping with an active HPRT locus in the father and an inactive HPRT locus in the patient.
T7 1247-1485 Sentence denotes Together these data indicate that nonrandom inactivation of the cytogenetically normal paternal X chromosome and a microdeletion of the HPRT gene on an active maternal X chromosome were responsible for the absence of HPRT in this patient.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 110-118 HP_0001417 denotes X-linked
T2 110-128 HP_0001419 denotes X-linked recessive
T3 739-747 HP_0001417 denotes X-linked

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 129-149 ORDO:510 denotes Lesch-Nyhan syndrome

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 31-42 Modifier:D007926 denotes Lesch-Nyhan
T2 129-149 SpecificDisease:D007926 denotes Lesch-Nyhan syndrome
T3 151-207 SpecificDisease:D007926 denotes hypoxanthine phosphoribosyltransferase [HPRT] deficiency

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T383 31-42 Modifier denotes Lesch-Nyhan D007926
T384 129-149 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T385 151-207 SpecificDisease denotes hypoxanthine phosphoribosyltransferase [HPRT] deficiency D007926

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T383 31-42 Modifier denotes Lesch-Nyhan D007926
T384 129-149 SpecificDisease denotes Lesch-Nyhan syndrome D007926
T385 151-207 SpecificDisease denotes hypoxanthine phosphoribosyltransferase [HPRT] deficiency D007926

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 31-42 Modifier denotes Lesch-Nyhan
T2 129-149 SpecificDisease denotes Lesch-Nyhan syndrome
T3 191-195 SpecificDisease denotes HPRT
T4 547-551 Modifier denotes HPRT
T5 1036-1040 Modifier denotes HPRT
T6 1179-1183 Modifier denotes HPRT
T7 1220-1224 Modifier denotes HPRT
T8 1383-1387 Modifier denotes HPRT
T9 1464-1468 Modifier denotes HPRT

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 31-42 Modifier denotes Lesch-Nyhan
T2 129-149 SpecificDisease denotes Lesch-Nyhan syndrome
T3 151-207 SpecificDisease denotes hypoxanthine phosphoribosyltransferase [HPRT] deficiency
T4 1464-1468 Modifier denotes HPRT

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 31-50 SpecificDisease denotes Lesch-Nyhan patient
T2 129-149 SpecificDisease denotes Lesch-Nyhan syndrome
T3 151-207 SpecificDisease denotes hypoxanthine phosphoribosyltransferase [HPRT] deficiency
T4 592-599 SpecificDisease denotes disease
T5 1464-1468 SpecificDisease denotes HPRT

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 31-42 SpecificDisease denotes Lesch-Nyhan
T2 129-149 SpecificDisease denotes Lesch-Nyhan syndrome
T3 151-207 CompositeMention denotes hypoxanthine phosphoribosyltransferase [HPRT] deficiency
T4 592-599 Modifier denotes disease