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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: Identification of APC2 , a homologue of...
Identification of APC2 , a homologue of the <span class="disease">adenomatous polyposis coli tumour</span> suppressor .
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 adenomatous polyposis coli ( APC ) ...
The <span class="disease">adenomatous polyposis coli ( APC ) tumour</span> - suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta ( GSK - 3beta ) , axin / conductin and betacatenin .
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: Complex formation induces the rapid deg...
Complex formation induces the rapid degradation of betacatenin .
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 colon carcinoma cells , loss of APC ...
In <span class="disease">colon carcinoma</span> cells , loss of APC leads to the accumulation of betacatenin in the nucleus , where it binds to and activates the Tcf - 4 transcription factor ( reviewed in [ 1 ] [ 2 ] ) .
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: Here , we report the identification and...
Here , we report the identification and genomic structure of APC homologues .
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: Mammalian APC2 , which closely resemble...
Mammalian APC2 , which closely resembles APC in overall domain structure , was functionally analyzed and shown to contain two SAMP domains , both of which are required for binding to conductin .
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: Like APC , APC2 regulates the formation...
Like APC , APC2 regulates the formation of active betacatenin - Tcf complexes , as demonstrated using transient transcriptional activation assays in APC - / - <span class="disease">colon carcinoma</span> cells .
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: Human APC2 maps to chromosome 19p13 . #...
Human APC2 maps to chromosome 19p13 .
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: 3 . ### Output Text:
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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: APC and APC2 may therefore have compara...
APC and APC2 may therefore have comparable functions in development and <span class="disease">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: A common MSH2 mutation in English and N...
A common MSH2 mutation in English and North American <span class="disease">HNPCC</span> families : origin , phenotypic expression , and sex specific differences in <span class="disease">colorectal 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 frequency , origin , and phenotypic...
The frequency , origin , and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with <span class="disease">hereditary non - polyposis cancer syndrome</span> ( <span class="disease">HNPCC</span> ) was 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The mutation ( A - - > T at nt943 + 3 )...
The mutation ( A - - > T at nt943 + 3 ) disrupts the 3 splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far 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: Although this mutation was initially de...
Although this mutation was initially detected in four of 33 <span class="disease">colorectal cancer</span> families analysed from eastern England , more extensive analysis has reduced the frequency to four of 52 ( 8 % ) English <span class="disease">HNPCC</span> kindreds analysed .
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 contrast , the MSH2 mutation was ide...
In contrast , the MSH2 mutation was identified in 10 of 20 ( 50 % ) separately identified <span class="disease">colorectal</span> families from Newfoundland .
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: To investigate the origin of this mutat...
To investigate the origin of this mutation in <span class="disease">colorectal cancer</span> families from England ( n = 4 ) , Newfoundland ( n = 10 ) , and the United States ( n = 3 ) , haplotype analysis using microsatellite markers linked to MSH2 was performed .
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: Within the English and US families ther...
Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most 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: In contrast , a common haplotype was id...
In contrast , a common haplotype was identified at the two flanking markers ( CA5 and D2S288 ) in eight of the Newfoundland 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: These findings suggested a founder effe...
These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish <span class="disease">HNPCC</span> 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: We calculated age related risks of all ...
We calculated age related risks of all , <span class="disease">colorectal , endometrial , and ovarian cancers</span> in nt943 + 3 A - - > T MSH2 mutation carriers ( n = 76 ) for all patients and for men and women separately .
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: For both sexes combined , the penetranc...
For both sexes combined , the penetrances at age 60 years for all <span class="disease">cancers</span> and for <span class="disease">colorectal cancer</span> were 0 .
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: 86 and 0 . ### Output Text:
86 and 0 .
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: 57 , respectively . ### Output Text:
57 , 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The risk of colorectal cancer was signi...
The risk of <span class="disease">colorectal cancer</span> was significantly higher ( p < 0 . 01 ) in males than females ( 0 . 63 v 0 . 30 and 0 . 84 v 0 . 44 at ages 50 and 60 years , 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: For females there was a high risk of en...
For females there was a high risk of <span class="disease">endometrial cancer</span> ( 0 . 5 at age 60 years ) and <span class="disease">premenopausal ovarian cancer</span> ( 0 . 2 at 50 years ) .
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 intersex differences in colorecta...
These intersex differences in <span class="disease">colorectal cancer</span> risks have implications for screening programmes and for attempts to identify <span class="disease">colorectal cancer</span> susceptibility modifiers .
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: Age of onset in Huntington disease : se...
Age of onset in <span class="disease">Huntington disease</span> : sex specific influence of apolipoprotein E genotype and normal CAG repeat length .
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: Age of onset ( AO ) of Huntington disea...
Age of onset ( AO ) of <span class="disease">Huntington disease</span> ( <span class="disease">HD</span> ) is known to be correlated with the length of an expanded CAG repeat in the <span class="disease">HD</span> 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Apolipoprotein E ( APOE ) genotype , in...
Apolipoprotein E ( APOE ) genotype , in turn , is known to influence AO in <span class="disease">Alzheimer disease</span> , rendering the APOE gene a likely candidate to affect AO in other <span class="disease">neurological diseases</span> too .
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 therefore determined APOE genotype a...
We therefore determined APOE genotype and normal CAG repeat length in the <span class="disease">HD</span> gene for 138 <span class="disease">HD</span> patients who were previously analysed with respect to CAG repeat length .
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: Genotyping for APOE was performed blind...
Genotyping for APOE was performed blind to clinical information .
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 to highlighting the effect ...
In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited <span class="disease">HD</span> and in male patients , we show that the APOE epsilon2epsilon3 genotype is associated with significantly earlier AO in males than in females .
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: Such a sex difference in AO was not app...
Such a sex difference in AO was not apparent for any of the other APOE genotypes .
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: Our findings suggest that subtle differ...
Our findings suggest that subtle differences in the course of the <span class="disease">neurodegeneration</span> in <span class="disease">HD</span> may allow interacting genes to exert gender specific effects upon AO .
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: Familial deficiency of the seventh comp...
<span class="disease">Familial deficiency of the seventh component of complement</span> associated with recurrent <span class="disease">bacteremic infections due to Neisseria</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 serum of a 29 - year old woman with...
The serum of a 29 - year old woman with a recent episode of <span class="disease">disseminated gonococcal infection</span> and a history of <span class="disease">meningococcal meningitis</span> and <span class="disease">arthritis</span> as a child was found to lack serum hemolytic complement 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The seventh component of complement ( C...
The seventh component of complement ( C7 ) was not detected by functional or immunochemical assays , whereas other components were normal by hemolytic and immunochemical assessment .
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: Her fresh serum lacked complement - med...
Her fresh serum lacked complement - mediated bactericidal activity against Neisseria gonorrhoeae , but the addition of fresh normal serum or purified C7 restored bactericidal activity as well as hemolytic 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The absence of functional C7 activity c...
The <span class="disease">absence of functional C7</span> activity could not be accounted for on the basis of an inhibitor .
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: Opsonization and generation of chemotac...
Opsonization and generation of chemotactic activity functioned normally .
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: Complete absence of C7 was also found i...
<span class="disease">Complete absence of C7</span> was also found in one sibling who had the clinical syndrome of <span class="disease">meningococcal meningitis</span> and <span class="disease">arthritis</span> as a child and in this siblings clinically well eight - year - old son .
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: HLA histocompatibility typing of the fa...
HLA histocompatibility typing of the family members did not demonstrate evidence for genetic linkage of <span class="disease">C7 deficiency</span> with the major histocompatibility 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: This report represents the first cases ...
This report represents the first cases of <span class="disease">C7 deficiency</span> associated with infectious complications and suggests that bactericidal activity may be important in host defense against <span class="disease">bacteremic neisseria infections</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: Increased incidence of cancer in patien...
Increased incidence of <span class="disease">cancer</span> in patients with <span class="disease">cartilage - hair hypoplasia</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: OBJECTIVE Previous reports have suggest...
OBJECTIVE Previous reports have suggested an increased risk of <span class="disease">cancer</span> among patients with <span class="disease">cartilage - hair hypoplasia</span> ( <span class="disease">CHH</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: This study was carried out to further e...
This study was carried out to further evaluate this risk among patients with <span class="disease">CHH</span> and their first - degree relatives .
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: STUDY DESIGN One hundred twenty - two p...
STUDY DESIGN One hundred twenty - two patients with <span class="disease">CHH</span> were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986 .
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: Their parents and nonaffected siblings ...
Their parents and nonaffected siblings were identified through the Population Register Center .
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: This cohort underwent follow - up for c...
This cohort underwent follow - up for <span class="disease">cancer</span> incidence through the Finnish Cancer Registry to the end of 1995 .
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 A statistically significant exc...
RESULTS A statistically significant excess risk of <span class="disease">cancer</span> was seen among the patients with <span class="disease">CHH</span> ( standardized incidence ratio 6 . 9 , 95 % confidence interval 2 . 3 to 16 ) , which was mainly attributable to <span class="disease">non - Hodgkins lymphoma</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: In addition , a significant excess risk...
In addition , a significant excess risk of <span class="disease">basal cell carcinoma</span> was seen ( standardized incidence ratio 35 , 95 % confidence interval 7 . 2 to 102 ) .
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 cancer incidence among the siblings...
The <span class="disease">cancer</span> incidence among the siblings or the parents did not differ from the average <span class="disease">cancer</span> incidence in the Finnish 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: CONCLUSIONS This study confirms an incr...
CONCLUSIONS This study confirms an increased risk of <span class="disease">cancer</span> , especially <span class="disease">non - Hodgkins lymphoma</span> , probably attributable to defective immunity , among patients with <span class="disease">CHH</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: Genotype and phenotype in patients with...
Genotype and phenotype in patients with <span class="disease">dihydropyrimidine dehydrogenase deficiency</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: Dihydropyrimidine dehydrogenase ( DPD )...
<span class="disease">Dihydropyrimidine dehydrogenase ( DPD ) deficiency</span> is an <span class="disease">autosomal recessive disease</span> characterised by thymine - uraciluria in homozygous deficient patients and has been associated with a variable clinical 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: In order to understand the genetic and ...
In order to understand the genetic and phenotypic basis for <span class="disease">DPD deficiency</span> , we have reviewed 17 families presenting 22 patients with complete <span class="disease">deficiency of DPD</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: In this group of patients , 7 different...
In this group of patients , 7 different mutations have been identified , including 2 deletions [ 295 - 298delTCAT , 1897delC ] , 1 splice - site mutation [ IVS14 + 1G > A ) ] and 4 missense mutations ( 85T > C , 703C > T , 2658G > A , 2983G > T ) .
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: Analysis of the prevalence of the vario...
Analysis of the prevalence of the various mutations among <span class="disease">DPD</span> patients has shown that the G - - > A point mutation in the invariant splice donor site is by far the most common ( 52 % ) , whereas the other six mutations are less frequently observed .
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 large phenotypic variability has been...
A large phenotypic variability has been observed , with <span class="disease">convulsive disorders</span> , <span class="disease">motor retardation</span> and <span class="disease">mental retardation</span> being the most abundant manifestations .
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 clear correlation between the genotyp...
A clear correlation between the genotype and phenotype has not been established .
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: An altered beta - alanine , uracil and ...
An altered beta - alanine , uracil and thymine homeostasis might underlie the various <span class="disease">clinical abnormalities</span> encountered in patients with <span class="disease">DPD deficiency</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: Fibroblast growth factor homologous fac...
Fibroblast growth factor homologous factor 2 ( FHF2 ) : gene structure , expression and mapping to the <span class="disease">Borjeson - Forssman - Lehmann syndrome</span> region in Xq26 delineated by a duplication breakpoint in a <span class="disease">BFLS</span> - like patient .
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: Borjeson - Forssman - Lehmann syndrome ...
<span class="disease">Borjeson - Forssman - Lehmann syndrome</span> ( <span class="disease">BFLS</span> ) is a syndromal <span class="disease">X - linked mental retardation</span> , which maps by linkage to the q26 region of the human X chromosome .
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 have identified a male patient with ...
We have identified a male patient with <span class="disease">BFLS</span> - like features and a duplication , 46 , Y , dup ( X ) ( q26q28 ) , inherited from his phenotypically normal mother .
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: Fluorescence in situ hybridisation usin...
Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400 - kb interval in the Xq26 .
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: 3 region between DXS155 and DXS294 / DX...
3 region between DXS155 and DXS294 / DXS730 .
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: Database searches and analysis of avail...
Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene , FHF2 , within the duplication breakpoint interval .
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 gene structure of FHF2 was determin...
The gene structure of FHF2 was determined and two new exons were identified , including a new 5 end exon , 1B .
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: FHF2 is a large gene extending over app...
FHF2 is a large gene extending over approximately 200 kb in Xq26 .
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: 3 and is composed of at least seven exo...
3 and is composed of at least seven exons .
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: It shows tissue - specific alternative ...
It shows tissue - specific alternative splicing and alternative transcription starts .
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: Northern blot hybridisation showed high...
Northern blot hybridisation showed highest expression in brain and skeletal muscle .
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 FHF2 gene localisation and tissue -...
The FHF2 gene localisation and tissue - specific expression pattern suggest it to be a candidate gene for familial cases of the <span class="disease">BFLS syndrome</span> and other syndromal and non - specific forms of <span class="disease">X - linked mental retardation</span> mapping to the region .
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: Germline E - cadherin gene ( CDH1 ) mut...
Germline E - cadherin gene ( CDH1 ) mutations predispose to <span class="disease">familial gastric cancer</span> and <span class="disease">colorectal 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: Inherited mutations in the E - cadherin...
Inherited mutations in the E - cadherin gene ( CDH1 ) were described recently in three Maori kindreds with <span class="disease">familial gastric 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: Familial gastric cancer is genetically ...
<span class="disease">Familial gastric cancer</span> is genetically heterogeneous and it is not clear what proportion of <span class="disease">gastric cancer</span> susceptibility in non - Maori populations is due to germline CDH1 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: Therefore , we screened eight familial ...
Therefore , we screened eight <span class="disease">familial gastric cancer</span> kindreds of British and Irish origin for germline CDH1 mutations , by SSCP analysis of all 16 exons and flanking sequences .
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: Each family contained ( i ) two cases o...
Each family contained ( i ) two cases of <span class="disease">gastric cancer</span> in first degree relatives with one affected before age 50 years ; or ( ii ) three or more cases of <span class="disease">gastric 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: Novel germline CDH1 mutations ( a nonse...
Novel germline CDH1 mutations ( a nonsense and a splice site ) were detected in two families ( 25 % ) .
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: Both mutations were predicted to trunca...
Both mutations were predicted to truncate the E - cadherin protein in the signal peptide domain .
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 one family there was evidence of non...
In one family there was evidence of non - penetrance and susceptibility to both <span class="disease">gastric and colorectal cancer</span> ; thus , in addition to six cases of <span class="disease">gastric cancer</span> , a CDH1 mutation carrier developed <span class="disease">colorectal cancer</span> at age 30 years ....
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 have confirmed that germline mutatio...
We have confirmed that germline mutations in the CDH1 gene cause <span class="disease">familial gastric cancer</span> in non - Maori populations .
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: However , only a minority of familial g...
However , only a minority of familial <span class="disease">gastric cancers</span> can be accounted for by CDH1 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: Loss of E - cadherin function has been ...
Loss of E - cadherin function has been implicated in the pathogenesis of sporadic <span class="disease">colorectal and other cancers</span> , and our findings provide evidence that germline CDH1 mutations predispose to early onset <span class="disease">colorectal 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: Thus , CDH1 should be investigated as a...
Thus , CDH1 should be investigated as a cause of inherited susceptibility to both <span class="disease">gastric and colorectal 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: A zinc finger truncation of murine WT1 ...
A zinc finger truncation of murine WT1 results in the characteristic <span class="disease">urogenital abnormalities</span> of <span class="disease">Denys - Drash syndrome</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 Wilms tumor - suppressor gene , WT1...
The <span class="disease">Wilms tumor</span> - suppressor gene , WT1 , plays a key role in urogenital development , and <span class="disease">WT1 dysfunction</span> is implicated in both <span class="disease">neoplastic</span> ( <span class="disease">Wilms tumor</span> , <span class="disease">mesothelioma</span> , <spa...
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 analysis of diseases linked specifi...
The analysis of diseases linked specifically with WT1 mutations , such as <span class="disease">Denys - Drash syndrome</span> ( <span class="disease">DDS</span> ) , can provide valuable insight concerning the role of WT1 in development and disease .
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: DDS is a rare childhood disease charact...
<span class="disease">DDS</span> is a rare childhood disease characterized by a <span class="disease">nephropathy</span> involving <span class="disease">mesangial sclerosis</span> , XY <span class="disease">pseudohermaphroditism</span> , and / or <span class="disease">Wilms tumor</span> ( <span class="disease">WT</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: DDS patients are constitutionally heter...
<span class="disease">DDS</span> patients are constitutionally heterozygous for exonic point mutations in WT1 , which include mutations predicted to truncate the protein within the C - terminal zinc finger ( ZF ) region .
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 report that heterozygosity for a tar...
We report that heterozygosity for a targeted murine Wt1 allele , Wt1 ( tmT396 ) , which truncates ZF3 at codon 396 , induces <span class="disease">mesangial sclerosis</span> characteristic of <span class="disease">DDS</span> in adult heterozygous and chimeric mice .
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: Male genital defects also were evident ...
<span class="disease">Male genital defects</span> also were evident and there was a single case of <span class="disease">Wilms tumor</span> in which the transcript of the nontargeted allele showed an exon 9 skipping event , implying a causal link between <span class="disease">Wt1 dysfunction</span> and <span class="dis...
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: However , the mutant WT1 ( tmT396 ) pro...
However , the mutant WT1 ( tmT396 ) protein accounted for only 5 % of WT1 in both heterozygous embryonic stem cells and the <span class="disease">WT</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: This has implications regarding the mec...
This has implications regarding the mechanism by which the mutant allele exerts its effect .
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: Mechanism of increased iron absorption ...
Mechanism of increased iron absorption in murine model of <span class="disease">hereditary hemochromatosis</span> : increased duodenal expression of the iron transporter DMT1 .
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: Hereditary hemochromatosis ( HH ) is a ...
<span class="disease">Hereditary hemochromatosis</span> ( <span class="disease">HH</span> ) is a common <span class="disease">autosomal recessive disorder</span> characterized by tissue iron deposition secondary to excessive dietary iron absorption .
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 recently reported that HFE , the pro...
We recently reported that HFE , the protein defective in <span class="disease">HH</span> , was physically associated with the transferrin receptor ( TfR ) in duodenal crypt cells and proposed that mutations in HFE attenuate the uptake of transferrin - bound iron from plasma by duodenal crypt cells , leading to up - reg...
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: Here , we tested the hypothesis that HF...
Here , we tested the hypothesis that HFE - / - mice have increased duodenal expression of the divalent metal transporter ( DMT1 ) .
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: By 4 weeks of age , the HFE - / - mice ...
By 4 weeks of age , the HFE - / - mice demonstrated iron loading when compared with HFE + / + littermates , with elevated transferrin saturations ( 68 . 4 % vs . 49 . 8 % ) and elevated liver iron concentrations ( 985 micrograms vs . 381 micrograms ) .
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: By using Northern blot analyses , we qu...
By using Northern blot analyses , we quantitated duodenal expression of both classes of DMT1 transcripts one containing an iron responsive element ( IRE ) , called DMT1 ( IRE ) , and one containing no IRE , called DMT1 ( non - IRE ) .
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