> top > docs > PubMed:9326316 > annotations

PubMed:9326316 JSONTXT

Annnotations TAB JSON ListView MergeView

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1253-1256 gene:4763 denotes NF1
T1 1329-1342 disease:C0027830 denotes neurofibromas
T2 1253-1256 gene:4763 denotes NF1
T3 1329-1342 disease:C0206727 denotes neurofibromas
R1 T0 T1 associated_with NF1,neurofibromas
R2 T2 T3 associated_with NF1,neurofibromas

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T906 43-46 gene:4763 denotes NF1
T907 62-75 disease:C0027830 denotes neurofibromas
R1 T906 T907 associated_with NF1,neurofibromas
R2 T906 T907 associated_with NF1,neurofibromas
R3 T906 T907 associated_with NF1,neurofibromas

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-76 Sentence denotes Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
TextSentencer_T2 77-147 Sentence denotes Neurofibroma is a benign tumor that arises from small or large nerves.
TextSentencer_T3 148-278 Sentence denotes This neoplastic lesion is a common feature of neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders.
TextSentencer_T4 279-531 Sentence denotes The NF1 gene codes for a protein called "neurofibromin." It possesses a region that shares a high homology with the family of GTPase-activating proteins, which are negative regulators of RAS function and thereby control cell growth and differentiation.
TextSentencer_T5 532-598 Sentence denotes The evidence points to the NF1 gene being a tumor-suppressor gene.
TextSentencer_T6 599-806 Sentence denotes NF1 patients also have an increased incidence of certain malignant tumors that are believed to follow the "two hit" hypothesis, with one allele constitutionally inactivated and the other somatically mutated.
TextSentencer_T7 807-982 Sentence denotes Recently, somatic loss of heterozygosity (LOH) has been described for neurofibromas, and mutations in both copies of the NF1 gene have been reported for a dermal neurofibroma.
TextSentencer_T8 983-1078 Sentence denotes The aim of our study was the analysis of the NF1 locus in benign neurofibromas in NF1 patients.
TextSentencer_T9 1079-1219 Sentence denotes We performed LOH analysis on 60 neurofibromas belonging to 17 patients, 9 of them with family history of the disease and 8 of them sporadic.
TextSentencer_T10 1220-1382 Sentence denotes We have analyzed five intragenic NF1 markers and six extragenic markers, and we have found LOH in 25% of the neurofibromas (corresponding to 53% of the patients).
TextSentencer_T11 1383-1619 Sentence denotes In addition, we found that in the neurofibromas of patients from familial cases the deletions occurred in the allele that is not transmitted with the disease, indicating that both copies of the NF1 gene were inactivated in these tumors.
TextSentencer_T12 1620-1776 Sentence denotes Therefore, the recent reports mentioned above, together with our findings, strongly support the double inactivation of the NF1 gene in benign neurofibromas.
T1 0-76 Sentence denotes Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
T2 77-147 Sentence denotes Neurofibroma is a benign tumor that arises from small or large nerves.
T3 148-278 Sentence denotes This neoplastic lesion is a common feature of neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders.
T4 279-531 Sentence denotes The NF1 gene codes for a protein called "neurofibromin." It possesses a region that shares a high homology with the family of GTPase-activating proteins, which are negative regulators of RAS function and thereby control cell growth and differentiation.
T5 532-598 Sentence denotes The evidence points to the NF1 gene being a tumor-suppressor gene.
T6 599-806 Sentence denotes NF1 patients also have an increased incidence of certain malignant tumors that are believed to follow the "two hit" hypothesis, with one allele constitutionally inactivated and the other somatically mutated.
T7 807-982 Sentence denotes Recently, somatic loss of heterozygosity (LOH) has been described for neurofibromas, and mutations in both copies of the NF1 gene have been reported for a dermal neurofibroma.
T8 983-1078 Sentence denotes The aim of our study was the analysis of the NF1 locus in benign neurofibromas in NF1 patients.
T9 1079-1219 Sentence denotes We performed LOH analysis on 60 neurofibromas belonging to 17 patients, 9 of them with family history of the disease and 8 of them sporadic.
T10 1220-1382 Sentence denotes We have analyzed five intragenic NF1 markers and six extragenic markers, and we have found LOH in 25% of the neurofibromas (corresponding to 53% of the patients).
T11 1383-1619 Sentence denotes In addition, we found that in the neurofibromas of patients from familial cases the deletions occurred in the allele that is not transmitted with the disease, indicating that both copies of the NF1 gene were inactivated in these tumors.
T12 1620-1776 Sentence denotes Therefore, the recent reports mentioned above, together with our findings, strongly support the double inactivation of the NF1 gene in benign neurofibromas.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 140-146 http://purl.obolibrary.org/obo/UBERON_0001021 denotes nerves

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 140-146 http://purl.obolibrary.org/obo/UBERON_0001021 denotes nerves