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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: Clustering of missense mutations in the...
Clustering of missense mutations in the <span class="disease">ataxia - telangiectasia</span> gene in a <span class="disease">sporadic T - cell leukaemia</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: Ataxia - telangiectasia ( A - T ) is a ...
<span class="disease">Ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) is a <span class="disease">recessive multi - system disorder</span> caused by mutations in the ATM gene at 11q22 - q23 ( ref . 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: The risk of cancer , especially lymphoi...
The risk of <span class="disease">cancer</span> , especially <span class="disease">lymphoid neoplasias</span> , is substantially elevated in <span class="disease">A - T</span> patients and has long been associated with chromosomal instability .
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 analysing tumour DNA from patients w...
By analysing <span class="disease">tumour</span> DNA from patients with <span class="disease">sporadic T - cell prolymphocytic leukaemia</span> ( <span class="disease">T - PLL</span> ) , a rare <span class="disease">clonal malignancy</span> with similarities to a <span class="disease">mature T - cell leukaemia</span> s...
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 marked contrast to the ATM mutation ...
In marked contrast to the ATM mutation pattern in <span class="disease">A - T</span> , the most frequent nucleotide changes in this <span class="disease">leukaemia</span> were missense 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: These clustered in the region correspon...
These clustered in the region corresponding to the kinase domain , which is highly conserved in ATM - related proteins in mouse , yeast and Drosophila .
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 resulting amino - acid substitution...
The resulting amino - acid substitutions are predicted to interfere with ATP binding or substrate recognition .
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: Two of seventeen mutated T - PLL sample...
Two of seventeen mutated <span class="disease">T - PLL</span> samples had a previously reported <span class="disease">A - T</span> 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: In contrast , no mutations were detecte...
In contrast , no mutations were detected in the p53 gene , suggesting that this <span class="disease">tumour</span> suppressor is not frequently altered in this <span class="disease">leukaemia</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: Occasional missense mutations in ATM we...
Occasional missense mutations in ATM were also found in <span class="disease">tumour</span> DNA from patients with <span class="disease">B - cell non - Hodgkins lymphomas</span> ( <span class="disease">B - NHL</span> ) and a <span class="disease">B - NHL</span> cell line .
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 evidence of a significant proportio...
The evidence of a significant proportion of loss - of - function mutations and a complete absence of the normal copy of ATM in the majority of mutated <span class="disease">tumours</span> establishes somatic inactivation of this gene in the pathogenesis of <span class="disease">sporadic T - PLL</span> and suggests that...
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: As constitutional DNA was not available...
As constitutional DNA was not available , a putative hereditary predisposition to <span class="disease">T - PLL</span> will require further investigation . .
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: Myotonic dystrophy protein kinase is in...
<span class="disease">Myotonic dystrophy</span> protein kinase is involved in the modulation of the Ca2 + homeostasis in skeletal muscle 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: Myotonic dystrophy ( DM ) , the most pr...
<span class="disease">Myotonic dystrophy</span> ( <span class="disease">DM</span> ) , the most prevalent <span class="disease">muscular disorder</span> in adults , is caused by ( CTG ) n - repeat expansion in a gene encoding a protein kinase ( <span class="disease">DM</span> protein kinase ; DMPK ) and involves changes...
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 obtain clues to the normal biologica...
To obtain clues to the normal biological role of DMPK in cellular ion homeostasis , we have compared the resting [ Ca2 + ] i , the amplitude and shape of depolarization - induced Ca2 + transients , and the content of ATP - driven ion pumps in cultured skeletal muscle cells of wild - type and DMPK [ - / - ] knockout mic...
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 vitro - differentiated DMPK [ - / - ...
In vitro - differentiated DMPK [ - / - ] myotubes exhibit a higher resting [ Ca2 + ] i than do wild - type myotubes because of an altered open probability of voltage - dependent l - type Ca2 + and Na + channels .
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 mutant myotubes exhibit smaller and...
The mutant myotubes exhibit smaller and slower Ca2 + responses upon triggering by acetylcholine or high external K + .
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 observed that these Ca...
In addition , we observed that these Ca2 + transients partially result from an influx of extracellular Ca2 + through the l - type Ca2 + channel .
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: Neither the content nor the activity of...
Neither the content nor the activity of Na + / K + ATPase and sarcoplasmic reticulum Ca2 + - ATPase are affected by DMPK absence .
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 conclusion , our data suggest that D...
In conclusion , our data suggest that DMPK is involved in modulating the initial events of excitation - contraction coupling in 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: Constitutional RB1 - gene mutations in ...
Constitutional RB1 - gene mutations in patients with isolated <span class="disease">unilateral retinoblastoma</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 most patients with isolated unilater...
In most patients with isolated <span class="disease">unilateral retinoblastoma</span> , <span class="disease">tumor</span> development is initiated by somatic inactivation of both alleles of the RB1 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: However , some of these patients can tr...
However , some of these patients can transmit <span class="disease">retinoblastoma</span> predisposition to their offspring .
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 determine the frequency and nature o...
To determine the frequency and nature of constitutional RB1 - gene mutations in patients with isolated <span class="disease">unilateral retinoblastoma</span> , we analyzed DNA from peripheral blood and from <span class="disease">tumor</span> tissue .
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 tumors from 54 ( 71 % )...
The analysis of <span class="disease">tumors</span> from 54 ( 71 % ) of 76 informative patients showed loss of constitutional heterozygosity ( LOH ) at intragenic 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: Three of 13 uninformative patients had ...
Three of 13 uninformative patients had constitutional deletions .
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 39 randomly selected tumors , SSCP ...
For 39 randomly selected <span class="disease">tumors</span> , SSCP , hetero - duplex analysis , sequencing , and Southern blot analysis were used to identify 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: Mutations were detected in 21 ( 91 % ) ...
Mutations were detected in 21 ( 91 % ) of 23 <span class="disease">tumors</span> with LOH .
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 6 ( 38 % ) of 16 tumors without LOH ...
In 6 ( 38 % ) of 16 <span class="disease">tumors</span> without LOH , one mutation was detected , and in 9 ( 56 % ) of the <span class="disease">tumors</span> without LOH , both 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Thus , a total of 45 mutations were ide...
Thus , a total of 45 mutations were identified in <span class="disease">tumors</span> of 36 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Thirty - nine of the mutations - includ...
Thirty - nine of the mutations - including 34 small mutations , 2 large structural alterations , and hypermethylation in 3 tumors - were not detected in the corresponding peripheral blood DNA .
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 6 ( 17 % ) of the 36 patients , a mu...
In 6 ( 17 % ) of the 36 patients , a mutation was detected in constitutional DNA , and 1 of these mutations is known to be associated with reduced expressivity .
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 presence of a constitutional mutati...
The presence of a constitutional mutation was not associated with an early age at treatment .
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 1 patient , somatic mosaicism was de...
In 1 patient , somatic mosaicism was demonstrated by molecular analysis of DNA and RNA from peripheral blood .
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 2 patients without a detectable muta...
In 2 patients without a detectable mutation in peripheral blood , mosaicism was suggested because 1 of the patients showed multifocal <span class="disease">tumors</span> and the other later developed <span class="disease">bilateral retinoblastoma</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 conclusion , our results emphasize t...
In conclusion , our results emphasize that the manifestation and transmissibility of <span class="disease">retinoblastoma</span> depend on the nature of the first mutation , its time in development , and the number and types of cells that are affected . .
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 deficiency of the fifth comp...
<span class="disease">Hereditary deficiency of the fifth component of complement</span> in man .
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: I . ### Output Text:
I .
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: Clinical , immunochemical , and family ...
Clinical , immunochemical , and family studies .
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 first recognized human kindred with...
The first recognized human kindred with <span class="disease">hereditary deficiency of the fifth component of complement</span> ( C5 ) is described .
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 proband , a 20 - year - old black f...
The proband , a 20 - year - old black female with <span class="disease">systemic lupus erythematosus</span> since age 11 , lacked serum hemolytic complement activity , even during remission .
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: C5 was undetectable in her serum by bot...
C5 was undetectable in her serum by both immunodiffusion and hemolytic assays .
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: Other complement components were normal...
Other complement components were normal during remission of lupus , but C1 , C4 , C2 , and C3 levels fell during exacerbations .
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 younger half - sister , who had no un...
A younger half - sister , who had no underlying disease , was also found to lack immunochemically detectable C5 .
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 hemolytic assay , she exhibited 1 - ...
By hemolytic assay , she exhibited 1 - 2 % of the normal serum C5 level and normal concentrations of other complement components .
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: C5 levels of other family members were ...
C5 levels of other family members were either normal or approximately half - normal , consistent with autosomal codominant inheritance of the gene determining <span class="disease">C5 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: Normal hemolytic titers were restored t...
Normal hemolytic titers were restored to both homozygous <span class="disease">C5 - deficient</span> ( <span class="disease">C5D</span> ) sera by addition of highly purified human C5 .
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 specific C5 titrations , however , i...
In specific C5 titrations , however , it was noted that when limited amounts of C5 were assayed in the presence of low dilutions of either <span class="disease">C5D</span> serum , curving rather than linear dose - response plots were consistently obtained , suggesting some inhibitory 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: Further studies suggested that low dilu...
Further studies suggested that low dilutions of <span class="disease">C5D</span> serum contain a factor ( or factors ) interfering at some step in the hemolytic assay of C5 , rather than a true C5 inhibitor or inactivator .
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: Of clinical interest are ( a ) the docu...
Of clinical interest are ( a ) the documentation of membranous <span class="disease">glomerulonephritis</span> , <span class="disease">vasculitis</span> , and <span class="disease">arthritis</span> in an individual lacking C5 ( and its biologic functions ) , and ( b ) a remarkable propensity to <span class="disease">ba...
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: Other observations indicate that the C5...
Other observations indicate that the <span class="disease">C5D</span> state is compatible with normal coagulation function and the capacity to mount a neutrophilic leukocytosis during <span class="disease">pyogenic infection</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: Susceptibility to ankylosing spondyliti...
Susceptibility to <span class="disease">ankylosing spondylitis</span> in twins : the role of genes , HLA , and the environment .
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 To determine the relative eff...
OBJECTIVE To determine the relative effects of genetic and environmental factors in susceptibility to <span class="disease">ankylosing spondylitis</span> ( <span class="disease">AS</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: METHODS Twins with AS were identified f...
METHODS Twins with <span class="disease">AS</span> were identified from the Royal National Hospital for <span class="disease">Rheumatic Diseases</span> database .
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: Clinical and radiographic examinations ...
Clinical and radiographic examinations were performed to establish diagnoses , and disease severity was assessed using a combination of validated scoring systems .
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 typing for HLA - B27 , HLA - B60 , ...
HLA typing for HLA - B27 , HLA - B60 , and HLA - DR1 was performed by polymerase chain reaction with sequence - specific primers , and zygosity was assessed using microsatellite markers .
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: Genetic and environmental variance comp...
Genetic and environmental variance components were assessed with the program Mx , using data from this and previous studies of twins with <span class="disease">AS</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: RESULTS Six of 8 monozygotic ( MZ ) twi...
RESULTS Six of 8 monozygotic ( MZ ) twin pairs were disease concordant , compared with 4 of 15 B27 - positive dizygotic ( DZ ) twin pairs ( 27 % ) and 4 of 32 DZ twin pairs overall ( 12 . 5 % ) .
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: Nonsignificant increases in similarity ...
Nonsignificant increases in similarity with regard to age at disease onset and all of the disease severity scores assessed were noted in disease - concordant MZ twins compared with concordant DZ twins .
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 - B27 and B60 were associated with ...
HLA - B27 and B60 were associated with the disease in probands , and the rate of disease concordance was significantly increased among DZ twin pairs in which the co - twin was positive for both B27 and DR1 .
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: Additive genetic effects were estimated...
Additive genetic effects were estimated to contribute 97 % of the population variance .
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: CONCLUSION Susceptibility to AS is larg...
CONCLUSION Susceptibility to <span class="disease">AS</span> is largely genetically determined , and the environmental trigger for the disease is probably ubiquitous .
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 - B27 accounts for a minority of th...
HLA - B27 accounts for a minority of the overall genetic susceptibility to <span class="disease">AS</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: Cell cycle - dependent colocalization o...
Cell cycle - dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains .
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: Germ - line mutations of the BRCA1 gene...
Germ - line mutations of the BRCA1 gene predispose women to early - onset <span class="disease">breast and ovarian cancer</span> by compromising the genes presumptive function as a <span class="disease">tumor</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: Although the biochemical properties of ...
Although the biochemical properties of BRCA1 polypeptides are not understood , their expression pattern and subcellular localization suggest a role in cell - cycle regulation .
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: When resting cells are induced to proli...
When resting cells are induced to proliferate , the steady - state levels of BRCA1 increase in late G1 and reach a maximum during S phase .
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: Moreover , in S phase cells , BRCA1 pol...
Moreover , in S phase cells , BRCA1 polypeptides are hyperphosphorylated and accumulate into discrete subnuclear foci termed " BRCA1 nuclear dots .
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 associates in vivo with a struc...
" BRCA1 associates in vivo with a structurally related protein termed BARD1 .
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 show that the steady - state le...
Here we show that the steady - state levels of BARD1 , unlike those of BRCA1 , remain relatively constant during cell cycle progression .
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 , immunostaining revealed that ...
However , immunostaining revealed that BARD1 resides within BRCA1 nuclear dots during S phase of the cell cycle , but not during the G1 phase .
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: Nevertheless , BARD1 polypeptides are f...
Nevertheless , BARD1 polypeptides are found exclusively in the nuclear fractions of both G1 - and S - phase 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: Therefore , progression to S phase is a...
Therefore , progression to S phase is accompanied by the aggregation of nuclear BARD1 polypeptides into BRCA1 nuclear dots .
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 cell cycle - dependent colocalizat...
This cell cycle - dependent colocalization of BARD1 and BRCA1 indicates a role for BARD1 in BRCA1 - mediated <span class="disease">tumor</span> suppression .
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: Ethnic differences in the HFE codon 282...
Ethnic differences in the HFE codon 282 ( Cys / Tyr ) 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Recent studies have shown that heredita...
Recent studies have shown that <span class="disease">hereditary hemochromatosis</span> ( <span class="disease">HH</span> ) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4 .
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: 5 Mb telomeric to HLA - A . ### Output ...
5 Mb telomeric to HLA - A .
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: Population studies of this polymorphism...
Population studies of this polymorphism are facilitated by the fact that the Cys282Tyr mutation creates a Rsal restriction site .
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 studied the codon 282 ( Cys / T...
We have studied the codon 282 ( Cys / Tyr ) polymorphism in different ethnic groups .
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 agreement with previous observations...
In agreement with previous observations the Tyr allele appeared to be rare or absent in Asiatic ( Indian , Chinese ) 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: The highest allele frequency ( 7 . 5 % ...
The highest allele frequency ( 7 . 5 % ) was found in Swedes .
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: Saamis ( 2 % ) and Mordvinians ( 1 . 8 ...
Saamis ( 2 % ) and Mordvinians ( 1 . 8 % ) had significantly lower frequencies of the Tyr 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Comparisons with allele frequencies bas...
Comparisons with allele frequencies based on prevalence estimates of <span class="disease">HH</span> showed some disagreements with the RFLP data , particularly in Finns .
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 newly described HFE marker provides...
The newly described HFE marker provides a new approach to the screening of <span class="disease">HH</span> as well as studies of the relationship between the HFE Tyr allele and different disorders including <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: Autosomal dominant neurohypophyseal dia...
<span class="disease">Autosomal dominant neurohypophyseal diabetes insipidus</span> associated with a missense mutation encoding Gly23 - - > Val in neurophysin II .
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: Autosomal dominant neurohypophyseal dia...
<span class="disease">Autosomal dominant neurohypophyseal diabetes insipidus</span> ( <span class="disease">ADNDI</span> ) is an <span class="disease">inherited disease</span> caused by progressive degeneration of the magnocellular neurons of the hypothalamus leading to decreased ability to produce the hormone arginine...
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: Affected individuals are not symptomati...
Affected individuals are not symptomatic at birth , but usually develop <span class="disease">diabetes insipidus</span> at 1 - 6 yr of age .
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 genetic locus of the disease is the...
The genetic locus of the disease is the AVP - neurophysin II ( NPII ) gene , and mutations that cause <span class="disease">ADNDI</span> have been found in both the signal peptide of the prepro - AVP - NPII precursor and within NPII itself .
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 affected girl who presented at 9 mon...
An affected girl who presented at 9 months of age and her similarly affected younger brother and father were all found to have a novel missense mutation ( G1758 - - > T ) encoding the amino acid substitution Gly23 - - > Val within NPII .
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 was confirmed by restricti...
The mutation was confirmed by restriction endonuclease 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: A T1 - weighted magnetic resonance imag...
A T1 - weighted magnetic resonance imaging of the fathers pituitary gland demonstrates an attenuated posterior pituitary bright spot .
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 mutation may be valuable for devel...
This mutation may be valuable for developing models of <span class="disease">dominantly inherited neurodegeneration</span> , as the early age of onset of symptoms suggests that this mutation may be particularly deleterious to the magnocellular neuron . .
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: Frequent inactivation of PTEN / MMAC1 i...
Frequent inactivation of PTEN / MMAC1 in primary <span class="disease">prostate 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: Sporadic prostate carcinoma is the most...
<span class="disease">Sporadic prostate carcinoma</span> is the most common <span class="disease">male cancer</span> in the Western world , yet many of the major genetic events involved in the progression of this often fatal <span class="disease">cancer</span> remain to be elucidated .
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: Numerous cytogenetic and allelotype stu...
Numerous cytogenetic and allelotype studies have reported frequent loss of heterozygosity on chromosomal arm 10q in <span class="disease">sporadic prostate 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: Deletion mapping studies have unambiguo...
Deletion mapping studies have unambiguously identified a region of chromosome 10q23 to be the minimal area of loss .
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 new tumor suppressor gene , PTEN / MM...
A new <span class="disease">tumor</span> suppressor gene , PTEN / MMAC1 , was isolated recently at this region of chromosome 10q23 and found to be inactivated by mutation in three <span class="disease">prostate cancer</span> cell lines .
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 screened 80 prostate tumors by micro...
We screened 80 <span class="disease">prostate tumors</span> by microsatellite analysis and found chromosome 10q23 to be deleted in 23 cases .
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 then proceeded with sequence analysi...
We then proceeded with sequence analysis of the entire PTEN / MMAC1 coding region and tested for homozygous deletion with new intragenic markers in these 23 cases with 10q23 loss of heterozygosity .
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 identification of the second mutati...
The identification of the second mutational event in 10 ( 43 % ) <span class="disease">tumors</span> establishes PTEN / MMAC1 as a main inactivation target of 10q loss in <span class="disease">sporadic prostate cancer</span> . .
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