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In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Therefore , these mutations are sufficient to explain the complete deficiency of both the probands studied .
### Output Text: | Therefore , these mutations are sufficient to explain the complete deficiency of both the probands studied . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: DNA sequencing of the exon - intron junctions revealed a number of revisions regarding the boundaries between exons 4 , 5 , and 6 as well as between exons 10 and 11 .
### Output Text: | DNA sequencing of the exon - intron junctions revealed a number of revisions regarding the boundaries between exons 4 , 5 , and 6 as well as between exons 10 and 11 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: No additional introns were detected in exons 6 and 10 .
### Output Text: | No additional introns were detected in exons 6 and 10 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Furthermore , DNA marker studies were conducted using known polymorphisms of the C6 , C7 , and C9 genes , confirming the linkage of the observed C9 mutations with defined haplotypes . .
### Output Text: | Furthermore , DNA marker studies were conducted using known polymorphisms of the C6 , C7 , and C9 genes , confirming the linkage of the observed C9 mutations with defined haplotypes . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer .
### Output Text: | BRCA1 mutations in women attending clinics that evaluate the risk of <span class="disease">breast cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: BACKGROUND To define the incidence of BRCA1 mutations among patients seen in clinics that evaluate the risk of breast cancer , we analyzed DNA samples from women seen in this setting and constructed probability tables to provide estimates of the likelihood of finding a BRCA1 mutation in individual families .
### Output Text: | BACKGROUND To define the incidence of BRCA1 mutations among patients seen in clinics that evaluate the risk of <span class="disease">breast cancer</span> , we analyzed DNA samples from women seen in this setting and constructed probability tables to provide estimates of the likelihood of finding a BRCA1 mutation in individual families . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: METHODS Clinical information , family histories , and blood for DNA analysis were obtained from 263 women with breast cancer .
### Output Text: | METHODS Clinical information , family histories , and blood for DNA analysis were obtained from 263 women with <span class="disease">breast cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Conformation - sensitive gel electrophoresis and DNA sequencing were used to identify BRCA1 mutations .
### Output Text: | Conformation - sensitive gel electrophoresis and DNA sequencing were used to identify BRCA1 mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: RESULTS BRCA1 mutations were identified in 16 percent of women with a family history of breast cancer .
### Output Text: | RESULTS BRCA1 mutations were identified in 16 percent of women with a family history of <span class="disease">breast cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Only 7 percent of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations .
### Output Text: | Only 7 percent of women from families with a history of <span class="disease">breast cancer</span> but not <span class="disease">ovarian cancer</span> had BRCA1 mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The rates were higher among women from families with a history of both breast and ovarian cancer .
### Output Text: | The rates were higher among women from families with a history of both <span class="disease">breast and ovarian cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Among family members , an average age of less than 55 years at the diagnosis of breast cancer , the presence of ovarian cancer , the presence of breast and ovarian cancer in the same woman , and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation .
### Output Text: | Among family members , an average age of less than 55 years at the diagnosis of <span class="disease">breast cancer</span> , the presence of <span class="disease">ovarian cancer</span> , the presence of <span class="disease">breast and ovarian cancer</span> in the same woman , and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation , or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family .
### Output Text: | No association was found between the presence of bilateral <span class="disease">breast cancer</span> or the number of <span class="disease">breast cancers</span> in a family and the detection of a BRCA1 mutation , or between the position of the mutation in the BRCA1 gene and the presence of <span class="disease">ovarian cancer</span> in a family . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: CONCLUSIONS Among women with breast cancer and a family history of the disease , the percentage with BRCA1 coding - region mutations is less than the 45 percent predicted by genetic - linkage analysis .
### Output Text: | CONCLUSIONS Among women with <span class="disease">breast cancer</span> and a family history of the disease , the percentage with BRCA1 coding - region mutations is less than the 45 percent predicted by genetic - linkage analysis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: These results suggest that even in a referral clinic specializing in screening women from high - risk families , the majority of tests for BRCA1 mutations will be negative and therefore uninformative . .
### Output Text: | These results suggest that even in a referral clinic specializing in screening women from high - risk families , the majority of tests for BRCA1 mutations will be negative and therefore uninformative . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Mutations in the arginine - rich protein gene ( ARP ) in pancreatic cancer .
### Output Text: | Mutations in the arginine - rich protein gene ( ARP ) in <span class="disease">pancreatic cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The ARP gene encodes a highly conserved arginine - rich protein from chromosomal band 3p21 .
### Output Text: | The ARP gene encodes a highly conserved arginine - rich protein from chromosomal band 3p21 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 1 1 .
### Output Text: | 1 1 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: At the cytogenetic level this region is frequently deleted in a variety of different solid tumors , although not in pancreatic cancer .
### Output Text: | At the cytogenetic level this region is frequently deleted in a variety of different <span class="disease">solid tumors</span> , although not in <span class="disease">pancreatic cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We have reported the presence of a specific mutation ( ATG50 - - > AGG ) or deletion of codon 50 of the ARP gene in different tumor types ( Shridhar et al . , 1996 , 1996a ) .
### Output Text: | We have reported the presence of a specific mutation ( ATG50 - - > AGG ) or deletion of codon 50 of the ARP gene in different <span class="disease">tumor types</span> ( Shridhar et al . , 1996 , 1996a ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
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### Input Text: In the present study , we have observed mutations involving codon 50 in 11 of 37 pancreatic tumors .
### Output Text: | In the present study , we have observed mutations involving codon 50 in 11 of 37 <span class="disease">pancreatic tumors</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The frequency of codon 50 mutation is roughly the same in pancreatic tumors as in the other types of tumors previously examined .
### Output Text: | The frequency of codon 50 mutation is roughly the same in <span class="disease">pancreatic tumors</span> as in the other types of <span class="disease">tumors</span> previously examined . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In addition , we have detected mutations at codon 51 in multiple PCR subclones in two other pancreatic tumors .
### Output Text: | In addition , we have detected mutations at codon 51 in multiple PCR subclones in two other <span class="disease">pancreatic tumors</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Mutations in the ARP gene are thus commonly observed in pancreatic cancer , as well as many other cancers .
### Output Text: | Mutations in the ARP gene are thus commonly observed in <span class="disease">pancreatic cancer</span> , as well as many other <span class="disease">cancers</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Difficulties in the ascertainment of C9 deficiency : lessons to be drawn from a compound heterozygote C9 - deficient subject .
### Output Text: | Difficulties in the ascertainment of <span class="disease">C9 deficiency</span> : lessons to be drawn from a compound heterozygote <span class="disease">C9 - deficient</span> subject . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A group of patients with long - surviving mismatched kidney allografts were investigated for complement function using haemolytic assays in agarose gels .
### Output Text: | A group of patients with long - surviving mismatched kidney allografts were investigated for complement function using haemolytic assays in agarose gels . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: One patient was found to have no alternative pathway activity but a low normal classical pathway .
### Output Text: | One patient was found to have no alternative pathway activity but a low normal classical pathway . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Surprisingly , investigation revealed that the patients complement was normal for all components except C9 , which was functionally absent .
### Output Text: | Surprisingly , investigation revealed that the patients complement was normal for all components except C9 , which was functionally absent . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The patient was shown to be heterozygous for DNA markers in the C6 , C7 and C9 region of chromosome 5 and therefore appears to be a compound heterozygote for two uncharacterized C9 deficiency genes .
### Output Text: | The patient was shown to be heterozygous for DNA markers in the C6 , C7 and C9 region of chromosome 5 and therefore appears to be a compound heterozygote for two uncharacterized <span class="disease">C9 deficiency</span> genes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Serological analysis by ELISA revealed that he has trace concentrations of a non - functional C9 molecule .
### Output Text: | Serological analysis by ELISA revealed that he has trace concentrations of a non - functional C9 molecule . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Western blot analysis was not sufficiently sensitive to permit detection of this molecule .
### Output Text: | Western blot analysis was not sufficiently sensitive to permit detection of this molecule . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We hypothesize that the patient is heterozygous for a complete deficiency of C9 and for a gene directing hyposynthesis of a defective C9 .
### Output Text: | We hypothesize that the patient is heterozygous for a <span class="disease">complete deficiency of C9</span> and for a gene directing hyposynthesis of a defective C9 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We also suggest that C9 deficiency may be more common among Caucasians than has been reported . .
### Output Text: | We also suggest that <span class="disease">C9 deficiency</span> may be more common among Caucasians than has been reported . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Screening for ESR mutations in breast and ovarian cancer patients .
### Output Text: | Screening for ESR mutations in <span class="disease">breast and ovarian cancer</span> patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: In the present study , leukocyte DNA from 143 patients with familial clustering of breast and / or ovarian cancer and tumour DNA from 96 breast carcinomas were screened for base mutations in the estrogen receptor gene ( ESR ) .
### Output Text: | In the present study , leukocyte DNA from 143 patients with familial clustering of <span class="disease">breast and / or ovarian cancer</span> and <span class="disease">tumour</span> DNA from 96 <span class="disease">breast carcinomas</span> were screened for base mutations in the estrogen receptor gene ( ESR ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Three patients with a family history of cancer were carrying a Gly160Cys germline substitution .
### Output Text: | Three patients with a family history of <span class="disease">cancer</span> were carrying a Gly160Cys germline substitution . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: This alteration was also detected in eight ( four females and four males ) of 729 controls ( 366 female , 363 males ) , indicating that the substitution probably represents a polymorphism .
### Output Text: | This alteration was also detected in eight ( four females and four males ) of 729 controls ( 366 female , 363 males ) , indicating that the substitution probably represents a polymorphism . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: However , in the 229 female controls in whom family history of cancer was known , one of two who had a sister with breast cancer was carrying the variant allele .
### Output Text: | However , in the 229 female controls in whom family history of <span class="disease">cancer</span> was known , one of two who had a sister with <span class="disease">breast cancer</span> was carrying the variant allele . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Hence , a possible clinical significance of the glycine into cysteine cannot be completely ruled out and should be further investigated .
### Output Text: | Hence , a possible clinical significance of the glycine into cysteine cannot be completely ruled out and should be further investigated . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Somatic mutations were not detected in any of the tumours studied , and the present data do not provide support for somatic ESR base mutations as an important mechanism for hormonal therapy resistance in estrogen receptor - positive breast carcinomas . .
### Output Text: | Somatic mutations were not detected in any of the <span class="disease">tumours</span> studied , and the present data do not provide support for somatic ESR base mutations as an important mechanism for hormonal therapy resistance in <span class="disease">estrogen receptor - positive breast carcinomas</span> . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Molecular bases of C7 deficiency : three different defects .
### Output Text: | Molecular bases of <span class="disease">C7 deficiency</span> : three different defects . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The molecular basis of C7 deficiency has been investigated in two Irish families and a number of Israeli families of Moroccan Sephardic Jewish origin .
### Output Text: | The molecular basis of <span class="disease">C7 deficiency</span> has been investigated in two Irish families and a number of Israeli families of Moroccan Sephardic Jewish origin . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Exon PCR and sequencing revealed a heterozygous point mutation at the 3 splice acceptor site of intron 1 in one Irish family .
### Output Text: | Exon PCR and sequencing revealed a heterozygous point mutation at the 3 splice acceptor site of intron 1 in one Irish family . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: In the other Irish family , exons 7 and 8 failed to amplify and they were shown to be deleted .
### Output Text: | In the other Irish family , exons 7 and 8 failed to amplify and they were shown to be deleted . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Marker haplotype studies of the C6 and C7 gene region and Southern blots show that the Irish family with the splice defect also segregate for the deletion , which is not easily detected in heterozygotes .
### Output Text: | Marker haplotype studies of the C6 and C7 gene region and Southern blots show that the Irish family with the splice defect also segregate for the deletion , which is not easily detected in heterozygotes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The Israeli C7 - deficient cases all share a C7 haplotype and are homozygous for a mis - sense mutation in exon 9 .
### Output Text: | The Israeli <span class="disease">C7 - deficient</span> cases all share a C7 haplotype and are homozygous for a mis - sense mutation in exon 9 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: However , one individual is heterozygous for markers at adjacent C6 loci , showing that there has been an intergenic recombination and suggesting that the deficiency mutation is of appreciable antiquity . .
### Output Text: | However , one individual is heterozygous for markers at adjacent C6 loci , showing that there has been an intergenic recombination and suggesting that the deficiency mutation is of appreciable antiquity . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Molecular heterogeneity of classical and Duarte galactosemia : mutation analysis by denaturing gradient gel electrophoresis .
### Output Text: | Molecular heterogeneity of <span class="disease">classical and Duarte galactosemia</span> : mutation analysis by denaturing gradient gel electrophoresis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Classical galactosemia is caused by one common missense mutation ( Q188R ) and by several rare mutations in the galactose - 1 - phosphate uridyltransferase ( GALT ) gene .
### Output Text: | <span class="disease">Classical galactosemia</span> is caused by one common missense mutation ( Q188R ) and by several rare mutations in the galactose - 1 - phosphate uridyltransferase ( GALT ) gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The most common variant of GALT , the Duarte variant , occurs as two types , Duarte - 1 ( D - 1 ) and Duarte - 2 ( D - 2 ) , both of which carry the sequence change N314D .
### Output Text: | The most common variant of GALT , the Duarte variant , occurs as two types , Duarte - 1 ( D - 1 ) and Duarte - 2 ( D - 2 ) , both of which carry the sequence change N314D . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: D - 1 increases , whereas D - 2 decreases GALT activity .
### Output Text: | D - 1 increases , whereas D - 2 decreases GALT activity . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: To study the molecular genetics of classical and Duarte galactosemia , we analyzed the GALT mutations in 30 families with classical galactosemia , in 10 families with the D - 2 variant and in 3 individuals carrying the D - 1 allele by denaturing gradient gel electrophoresis ( DGGE ) .
### Output Text: | To study the molecular genetics of <span class="disease">classical and Duarte galactosemia</span> , we analyzed the GALT mutations in 30 families with <span class="disease">classical galactosemia</span> , in 10 families with the D - 2 variant and in 3 individuals carrying the D - 1 allele by denaturing gradient gel electrophoresis ( DGGE ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: DGGE detected 59 of the 60 classical galactosemia alleles .
### Output Text: | DGGE detected 59 of the 60 classical <span class="disease">galactosemia</span> alleles . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Q188R accounted for 60 % , K285N accounted for 28 % of these alleles .
### Output Text: | Q188R accounted for 60 % , K285N accounted for 28 % of these alleles . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Eight novel candidate galactosemia mutations were found .
### Output Text: | Eight novel candidate <span class="disease">galactosemia</span> mutations were found . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: On all D - 2 alleles N314D occurred in cis with two intronic sequence changes , on the D - 1 alleles in cis with a neutral mutation in exon 7 .
### Output Text: | On all D - 2 alleles N314D occurred in cis with two intronic sequence changes , on the D - 1 alleles in cis with a neutral mutation in exon 7 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We conclude that the mutations causing galactosemia are highly heterogeneous and that K285N is a second common galactosemia mutation in our population . .
### Output Text: | We conclude that the mutations causing <span class="disease">galactosemia</span> are highly heterogeneous and that K285N is a second common <span class="disease">galactosemia</span> mutation in our population . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Isolation of full - length ATM cDNA and correction of the ataxia - telangiectasia cellular phenotype .
### Output Text: | Isolation of full - length ATM cDNA and correction of the <span class="disease">ataxia - telangiectasia</span> cellular phenotype . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A gene mutated in the human genetic disorder ataxia - telangiectasia ( A - T ) , ATM , was recently identified by positional cloning .
### Output Text: | A gene mutated in the human <span class="disease">genetic disorder</span> <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) , ATM , was recently identified by positional cloning . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: ATM is a member of the phosphatidylinositol - 3 - kinase superfamily , some of which are protein kinases and appear to have important roles in cell cycle control and radiation signal transduction .
### Output Text: | ATM is a member of the phosphatidylinositol - 3 - kinase superfamily , some of which are protein kinases and appear to have important roles in cell cycle control and radiation signal transduction . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We describe herein , to our knowledge , for the first time , the cloning of a full - length cDNA for ATM and correction of multiple aspects of the radio - sensitive phenotype of A - T cells by transfection with this cDNA .
### Output Text: | We describe herein , to our knowledge , for the first time , the cloning of a full - length cDNA for ATM and correction of multiple aspects of the radio - sensitive phenotype of <span class="disease">A - T</span> cells by transfection with this cDNA . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Overexpression of ATM cDNA in A - T cells enhanced the survival of these cells in response to radiation exposure , decreased radiation - induced chromosome aberrations , reduced radio - resistant DNA synthesis , and partially corrected defective cell cycle checkpoints and induction of stress - activated protein kinase .
### Output Text: | Overexpression of ATM cDNA in <span class="disease">A - T</span> cells enhanced the survival of these cells in response to radiation exposure , decreased radiation - induced chromosome aberrations , reduced radio - resistant DNA synthesis , and partially corrected defective cell cycle checkpoints and induction of stress - activated protein kinase . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: This correction of the defects in A - T cells provides further evidence of the multiplicity of effector functions of the ATM protein and suggests possible approaches to gene therapy . .
### Output Text: | This correction of the defects in <span class="disease">A - T</span> cells provides further evidence of the multiplicity of effector functions of the ATM protein and suggests possible approaches to gene therapy . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene - specific mechanisms in alveolar rhabdomyosarcoma .
### Output Text: | Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene - specific mechanisms in <span class="disease">alveolar rhabdomyosarcoma</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Chromosomal translocations identified in hematopoietic and solid tumors result in deregulated expression of protooncogenes or creation of chimeric proteins with tumorigenic potential .
### Output Text: | Chromosomal translocations identified in <span class="disease">hematopoietic and solid tumors</span> result in deregulated expression of protooncogenes or creation of chimeric proteins with tumorigenic potential . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In the pediatric solid tumor alveolar rhabdomyosarcoma , a consistent t ( 2 ; 13 ) ( q35 ; q14 ) or variant t ( 1 ; 13 ) ( p36 ; q14 ) translocation generates PAX3 - FKHR or PAX7 - FKHR fusion proteins , respectively .
### Output Text: | In the pediatric <span class="disease">solid tumor</span> <span class="disease">alveolar rhabdomyosarcoma</span> , a consistent t ( 2 ; 13 ) ( q35 ; q14 ) or variant t ( 1 ; 13 ) ( p36 ; q14 ) translocation generates PAX3 - FKHR or PAX7 - FKHR fusion proteins , respectively . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In this report , we demonstrate that in addition to functional alterations these translocations are associated with fusion product overexpression .
### Output Text: | In this report , we demonstrate that in addition to functional alterations these translocations are associated with fusion product overexpression . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Furthermore , PAX3 - FKHR and PAX7 - FKHR overexpression occurs by distinct mechanisms .
### Output Text: | Furthermore , PAX3 - FKHR and PAX7 - FKHR overexpression occurs by distinct mechanisms . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Transcription of PAX3 - FKHR is increased relative to wild - type PAX3 by a copy number - independent process .
### Output Text: | Transcription of PAX3 - FKHR is increased relative to wild - type PAX3 by a copy number - independent process . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In contrast , PAX7 - FKHR overexpression results from fusion gene amplification .
### Output Text: | In contrast , PAX7 - FKHR overexpression results from fusion gene amplification . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Thus , gene - specific mechanisms were selected to overexpress PAX3 - FKHR and PAX7 - FKHR in alveolar rhabdomyosarcoma , presumably due to differences in regulation between the wild - type loci .
### Output Text: | Thus , gene - specific mechanisms were selected to overexpress PAX3 - FKHR and PAX7 - FKHR in <span class="disease">alveolar rhabdomyosarcoma</span> , presumably due to differences in regulation between the wild - type loci . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We postulate that these overexpression mechanisms ensure a critical level of gene product for the oncogenic effects of these fusions . .
### Output Text: | We postulate that these overexpression mechanisms ensure a critical level of gene product for the oncogenic effects of these fusions . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: atm and p53 cooperate in apoptosis and suppression of tumorigenesis , but not in resistance to acute radiation toxicity .
### Output Text: | atm and p53 cooperate in apoptosis and suppression of tumorigenesis , but not in resistance to <span class="disease">acute radiation toxicity</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mutations in atm and p53 cause the human cancer - associated diseases ataxia - telangiectasia and Li - Fraumeni syndrome , respectively .
### Output Text: | Mutations in atm and p53 cause the human <span class="disease">cancer - associated diseases</span> <span class="disease">ataxia - telangiectasia</span> and <span class="disease">Li - Fraumeni syndrome</span> , respectively . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The two genes are believed to interact in a number of pathways , including regulation of DNA damage - induced cell - cycle checkpoints , apoptosis and radiation sensitivity , and cellular proliferation .
### Output Text: | The two genes are believed to interact in a number of pathways , including regulation of DNA damage - induced cell - cycle checkpoints , apoptosis and radiation sensitivity , and cellular proliferation . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Atm - null mice , as well as those null for p53 , develop mainly T - cell lymphomas , supporting the view that these genes have similar roles in thymocyte development .
### Output Text: | Atm - null mice , as well as those null for p53 , develop mainly <span class="disease">T - cell lymphomas</span> , supporting the view that these genes have similar roles in thymocyte development . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: To study the interactions of these two genes on an organismal level , we bred mice heterozygous for null alleles of both atm and p53 to produce all genotypic combinations .
### Output Text: | To study the interactions of these two genes on an organismal level , we bred mice heterozygous for null alleles of both atm and p53 to produce all genotypic combinations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mice doubly null for atm and p53 exhibited a dramatic acceleration of tumour formation relative to singly null mice , indicating that both genes collaborate in a significant manner to prevent tumorigenesis .
### Output Text: | Mice doubly null for atm and p53 exhibited a dramatic acceleration of <span class="disease">tumour</span> formation relative to singly null mice , indicating that both genes collaborate in a significant manner to prevent tumorigenesis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: With respect to their roles in apoptosis , loss of atm rendered thymocytes only partly resistant to irradiation - induced apoptosis , whereas additional loss of p53 engendered complete resistance .
### Output Text: | With respect to their roles in apoptosis , loss of atm rendered thymocytes only partly resistant to irradiation - induced apoptosis , whereas additional loss of p53 engendered complete resistance . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: This implies that the irradiation - induced atm and p53 apoptotic pathways are not completely congruent .
### Output Text: | This implies that the irradiation - induced atm and p53 apoptotic pathways are not completely congruent . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Finally - and in contrast to prior predictions - atm and p53 do not appear to interact in acute radiation toxicity , suggesting a separate atm effector pathway for this DNA damage response and having implications for the prognosis and treatment of human tumours . .
### Output Text: | Finally - and in contrast to prior predictions - atm and p53 do not appear to interact in <span class="disease">acute radiation toxicity</span> , suggesting a separate atm effector pathway for this DNA damage response and having implications for the prognosis and treatment of human <span class="disease">tumours</span> . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP .
### Output Text: | Trinucleotide repeat expansion at the <span class="disease">myotonic dystrophy</span> locus reduces expression of DMAHP . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Myotonic dystrophy , or dystrophia myotonica ( DM ) , is an autosomal dominant multisystem disorder caused by the expansion of a CTG trinucleotide repeat in the 3 untranslated region of the DMPK protein kinase gene on chromosome 19q13 .
### Output Text: | <span class="disease">Myotonic dystrophy</span> , or <span class="disease">dystrophia myotonica</span> ( <span class="disease">DM</span> ) , is an <span class="disease">autosomal dominant multisystem disorder</span> caused by the expansion of a CTG trinucleotide repeat in the 3 untranslated region of the DMPK protein kinase gene on chromosome 19q13 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 3 ( refs 1 - 3 ) .
### Output Text: | 3 ( refs 1 - 3 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Although the DM mutation was identified more than five years ago , the pathogenic mechanisms underlying this most prevalent form of hereditary adult neuromuscular disease remain elusive .
### Output Text: | Although the <span class="disease">DM</span> mutation was identified more than five years ago , the pathogenic mechanisms underlying this most prevalent form of hereditary adult <span class="disease">neuromuscular disease</span> remain elusive . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Previous work from our laboratory demonstrated that a DNase l - hypersensitive site located adjacent to the repeats on the wild - type allele is eliminated by repeat expansion , indicating that large CTG - repeat arrays may be associated with a local chromatin environment that represses gene expression .
### Output Text: | Previous work from our laboratory demonstrated that a DNase l - hypersensitive site located adjacent to the repeats on the wild - type allele is eliminated by repeat expansion , indicating that large CTG - repeat arrays may be associated with a local chromatin environment that represses gene expression . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Here we report that the hypersensitive site contains an enhancer element that regulates transcription of the adjacent DMAHP homeobox gene .
### Output Text: | Here we report that the hypersensitive site contains an enhancer element that regulates transcription of the adjacent DMAHP homeobox gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Analysis of DMAHP expression in the cells of DM patients with loss of the hypersensitive site revealed a two - to fourfold reduction in steady - state DMAHP transcript levels relative to wild - type controls .
### Output Text: | Analysis of DMAHP expression in the cells of <span class="disease">DM</span> patients with loss of the hypersensitive site revealed a two - to fourfold reduction in steady - state DMAHP transcript levels relative to wild - type controls . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Allele - specific analysis of DMAHP expression showed that steady - state transcript levels from the expanded allele were greatly reduced in comparison to those from the wild - type allele .
### Output Text: | Allele - specific analysis of DMAHP expression showed that steady - state transcript levels from the expanded allele were greatly reduced in comparison to those from the wild - type allele . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Together , these results demonstrate that CTG - repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis .
### Output Text: | Together , these results demonstrate that CTG - repeat expansions can suppress local gene expression and implicate DMAHP in <span class="disease">DM</span> pathogenesis . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene ( RB1 ) .
### Output Text: | Constitutively methylated CpG dinucleotides as mutation hot spots in the <span class="disease">retinoblastoma</span> gene ( RB1 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: A wide spectrum of mutations , ranging from point mutations to large deletions , have been described in the retinoblastoma gene ( RB1 ) .
### Output Text: | A wide spectrum of mutations , ranging from point mutations to large deletions , have been described in the <span class="disease">retinoblastoma</span> gene ( RB1 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Mutations have been found throughout the gene ; however , these genetic alterations do not appear to be homogeneously distributed .
### Output Text: | Mutations have been found throughout the gene ; however , these genetic alterations do not appear to be homogeneously distributed . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In particular , a significant proportion of disease - causing mutations results in the premature termination of protein synthesis , and the majority of these mutations occur as C - - > T transitions at CpG dinucleotides ( CpGs ) .
### Output Text: | In particular , a significant proportion of disease - causing mutations results in the premature termination of protein synthesis , and the majority of these mutations occur as C - - > T transitions at CpG dinucleotides ( CpGs ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Such recurrent CpG mutations , including those found in RB1 , are likely the result of the deamination of 5 - methylcytosine within these CpGs .
### Output Text: | Such recurrent CpG mutations , including those found in RB1 , are likely the result of the deamination of 5 - methylcytosine within these CpGs . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In the present study , we used the sodiumbisulfite conversion method to detect cytosine methylation in representative exons of RB1 .
### Output Text: | In the present study , we used the sodiumbisulfite conversion method to detect cytosine methylation in representative exons of RB1 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We analyzed DNA from a variety of tissues and specifically targeted CGA codons in RB1 , where recurrent premature termination mutations have been reported .
### Output Text: | We analyzed DNA from a variety of tissues and specifically targeted CGA codons in RB1 , where recurrent premature termination mutations have been reported . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We found that DNA methylation within RB1 exons 8 , 14 , 25 , and 27 appeared to be restricted to CpGs , including six CGA codons .
### Output Text: | We found that DNA methylation within RB1 exons 8 , 14 , 25 , and 27 appeared to be restricted to CpGs , including six CGA codons . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Other codons containing methylated cytosines have not been reported to be mutated .
### Output Text: | Other codons containing methylated cytosines have not been reported to be mutated . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Therefore , disease - causing mutations at CpGs in RB1 appear to be determined by several factors , including the constitutive presence of DNA methylation at cytosines within CpGs , the specific codon within which the methylated cytosine is located , and the particular region of the gene within which that codon resides . .
### Output Text: | Therefore , disease - causing mutations at CpGs in RB1 appear to be determined by several factors , including the constitutive presence of DNA methylation at cytosines within CpGs , the specific codon within which the methylated cytosine is located , and the particular region of the gene within which that codon resides . . |