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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: Mutations of the BRCA1 gone in humans a...
Mutations of the BRCA1 gone in humans are associated with predisposition to <span class="disease">breast and ovarian 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: We show here that Brca1 + / - mice are ...
We show here that Brca1 + / - mice are normal and fertile and lack <span class="disease">tumors</span> by age eleven months .
In the sentence extracted from 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: Homozygous Brca1 ( 5 - 6 ) mutant mice ...
Homozygous Brca1 ( 5 - 6 ) mutant mice die before day 7 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 5 of embryogenesis . ### Output Text:
5 of embryogenesis .
In the sentence extracted from 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: Mutant embryos are poorly developed , w...
Mutant embryos are poorly developed , with no evidence of mesoderm formation .
In the sentence extracted from 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 extraembryonic region is abnormal ,...
The extraembryonic region is abnormal , but aggregation with wild - type tetraploid embryos does not rescue the lethality .
In the sentence extracted from 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 vivo , mutant embryos do not exhibit...
In vivo , mutant embryos do not exhibit increased apoptosis but show reduced cell proliferation accompanied by decreased expression of cyclin E and mdm - 2 , a regulator of p53 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 expression of cyclin - dependent ki...
The expression of cyclin - dependent kinase inhibitor p21 is dramatically increased in the mutant embryos .
In the sentence extracted from 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: Buttressing these in vivo observations ...
Buttressing these in vivo observations is the fact that mutant blastocyst growth is grossly impaired in vitro .
In the sentence extracted from 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 , the death of Brca1 ( 5 - 6 ) mut...
Thus , the death of Brca1 ( 5 - 6 ) mutant embryos prior to gastrulation may be due to a failure of the proliferative burst required for the development of the different germ layers .
In the sentence extracted from 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 coronary heart disease in Jap...
Increased <span class="disease">coronary heart disease</span> in Japanese - American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels .
In the sentence extracted from 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: Plasma high density lipoprotein ( HDL )...
Plasma high density lipoprotein ( HDL ) levels are strongly genetically determined and show a general inverse relationship with <span class="disease">coronary heart disease</span> ( <span class="disease">CHD</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 cholesteryl ester transfer protein ...
The cholesteryl ester transfer protein ( CETP ) mediates the transfer of cholesteryl esters from HDL to other lipoproteins and is a key participant in the reverse transport of cholesterol from the periphery to the liver .
In the sentence extracted from 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 high prevalence of two different CETP...
A high prevalence of two different CETP gene mutations ( D442G , 5 . 1 % ; intron 14G A , 0 . 5 % ) , was found in 3 , 469 men of Japanese ancestry in the Honolulu Heart Program and mutations were associated with decreased CETP ( - 35 % ) and increased HDL chol levels ( + 10 % for D442G ) .
In the sentence extracted from 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 overall prevalence of def...
However , the overall prevalence of definite <span class="disease">CHD</span> was 21 % in men with mutations and 16 % in men without mutations .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The relative risk ( RR ) of CHD was 1 ....
The relative risk ( RR ) of <span class="disease">CHD</span> was 1 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 43 in men with mutations ( P < . 05 ) ;...
43 in men with mutations ( P < . 05 ) ; after adjustment for <span class="disease">CHD</span> risk factors , the RR was 1 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 55 ( P = . 02 ) ; after additional adju...
55 ( P = . 02 ) ; after additional adjustment for HDL levels , the RR was 1 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 68 ( P = . 008 ) . ### Output Text:
68 ( P = . 008 ) .
In the sentence extracted from 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: Similar RR values were obtained for the...
Similar RR values were obtained for the D442G mutation alone .
In the sentence extracted from 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 CHD in men with mutations was...
Increased <span class="disease">CHD</span> in men with mutations was primarily observed for HDL chol 41 - 60 mg / dl ; for HDL chol > 60 mg / dl men with and without mutations had low <span class="disease">CHD</span> prevalence .
In the sentence extracted from 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 , genetic CETP deficiency appears ...
Thus , genetic <span class="disease">CETP deficiency</span> appears to be an independent risk factor for <span class="disease">CHD</span> , primarily due to increased <span class="disease">CHD</span> prevalence in men with the D442G mutation and HDL cholesterol between 41 and 60 mg / dl .
In the sentence extracted from 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 findings suggest that both HDL conc...
The findings suggest that both HDL concentration and the dynamics of cholesterol transport through HDL ( i . e . , reverse cholesterol transport ) determine the anti - atherogenicity of the HDL fraction .
In the sentence extracted from 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: Mapping the homolog of the human Rb1 ge...
Mapping the homolog of the human Rb1 gene to chromosome 14 of higher primates .
In the sentence extracted from 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 Rb1 gene has been implicated with r...
The Rb1 gene has been implicated with <span class="disease">retinoblastoma</span> and is located on human Chromosome ( Chr ) 13q14 .
In the sentence extracted from 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: 2 2 . ### Output Text:
2 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: A unique sequence human Rb1 cosmid DNA ...
A unique sequence human Rb1 cosmid DNA probe has been used to localize this region on apes Chr 14 by the FISH technique .
In the sentence extracted from 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 conservation of the Rb1 gene in hig...
The conservation of the Rb1 gene in higher primates at the corresponding equivalent chromosome locus ( 14q14 ) of the human may serve as a phylogenetic marker to further trace the evolutionary pathway of human descent .
In the sentence extracted from 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: Wiskott - Aldrich syndrome : no strict ...
<span class="disease">Wiskott - Aldrich syndrome</span> : no strict genotype - phenotype correlations but clustering of missense mutations in the amino - terminal part of the WASP gene product .
In the sentence extracted from 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 Wiskott - Aldrich syndrome protein ...
The <span class="disease">Wiskott - Aldrich syndrome</span> protein ( WASP ) gene was found to be mutated in patients presenting with <span class="disease">WAS</span> and in patients showing <span class="disease">X - linked thrombocytopenia</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: Mutation analysis in 19 families of Ger...
Mutation analysis in 19 families of German , Swiss and Turkish descent by single - strand conformation polymorphism and sequencing resulted in the detection of seven novel and 10 known 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: A striking clustering of missense mutat...
A striking clustering of missense mutations in the first four exons contrasted with a random distribution of nonsense 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: More than 85 % of all known missense mu...
More than 85 % of all known missense mutations were localized in the amino - terminal stretch of the WASP gene product ; this region contained a mutational hot spot at codon 86 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: No genotype - phenotype correlation eme...
No genotype - phenotype correlation emerged after a comparison of the identified mutations with the resulting clinical picture for a classical <span class="disease">WAS</span> 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: A substitution at codon 86 resulted in ...
A substitution at codon 86 resulted in an extremely variable expression of the disease in a large Swiss family .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: An extended homology search revealed a ...
An extended homology search revealed a distant relationship of this stretch to the vasodilator - stimulated phosphoprotein ( VASP ) , which is involved in the maintenance of cyto - architecture by interacting with actin - like filaments . .
In the sentence extracted from 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: Influence of PAX6 gene dosage on develo...
Influence of PAX6 gene dosage on development : overexpression causes severe <span class="disease">eye abnormalities</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: Aniridia in man and Small eye in mice a...
<span class="disease">Aniridia</span> in man and Small eye in mice are <span class="disease">semidominant developmental disorders</span> caused by mutations within the paired box gene PAX6 .
In the sentence extracted from 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: Whereas heterozygotes suffer from iris ...
Whereas heterozygotes suffer from <span class="disease">iris hypoplasia</span> , homozygous mice lack eyes and nasal cavities and exhibit <span class="disease">brain abnormalities</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: To investigate the role of gene dosage ...
To investigate the role of gene dosage in more detail , we have generated yeast artificial chromosome transgenic mice carrying the human PAX6 locus .
In the sentence extracted from 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 crossed onto the Small eye backgro...
When crossed onto the Small eye background , the transgene rescues the mutant 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: Strikingly , mice carrying multiple cop...
Strikingly , mice carrying multiple copies on a wild - type background show specific <span class="disease">developmental abnormalities of the eye</span> , but not of other tissues expressing the 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: Thus , at least five different eye phen...
Thus , at least five different eye phenotypes are associated with changes in PAX6 expression .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We provide evidence that not only reduc...
We provide evidence that not only reduced , but also increased levels of transcriptional regulators can cause <span class="disease">developmental defects</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: Heterodimer formation and activity in t...
Heterodimer formation and activity in the human enzyme galactose - 1 - phosphate uridylyltransferase .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: One of the fundamental questions concer...
One of the fundamental questions concerning expression and function of dimeric enzymes involves the impact of naturally occurring mutations on subunit assembly and heterodimer 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: This question is of particular interest...
This question is of particular interest for the human enzyme galactose - l - phosphate uridylyl - transferase ( GALT ) , impairment of which results in the <span class="disease">inherited metabolic disorder</span> <span class="disease">galactosemia</span> , because many if not most patients studied to date are compound...
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Furthermore , the broad range of phenot...
Furthermore , the broad range of phenotypic severity observed in these patients raises the possibility that allelic combination , not just allelic constitution , may play some role in determining outcome .
In the sentence extracted from 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 the work described herein , we have ...
In the work described herein , we have selected two distinct naturally occurring null mutations of GALT , Q188R and R333W , and asked the questions ( i ) what are the impacts of these mutations on subunit assembly , and ( ii ) if heterodimers do form , are they active ?
In the sentence extracted from 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 answer these questions , we have est...
To answer these questions , we have established a yeast system for the coexpression of epitope - tagged alleles of human GALT and investigated both the extent of specific GALT subunit interactions and the activity of defined heterodimer pools .
In the sentence extracted from 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 found that both homodimers and ...
We have found that both homodimers and heterodimers do form involving each of the mutant subunits tested and that both heterodimer pools retain substantial enzymatic 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: These results are significant not only ...
These results are significant not only in terms of their implications for furthering our understanding of <span class="disease">galactosemia</span> and GALT holoenzyme structure - function relationships but also because the system described may serve as a model for similar studies of other complexes composed of multipl...
In the sentence extracted from 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: Cleavage of huntingtin by apopain , a p...
Cleavage of huntingtin by apopain , a proapoptotic cysteine protease , is modulated by the polyglutamine tract .
In the sentence extracted from 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: Apoptosis has recently been recognized ...
Apoptosis has recently been recognized as a mode of cell death in <span class="disease">Huntington disease</span> ( <span class="disease">HD</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: Apopain , a human counterpart of the ne...
Apopain , a human counterpart of the nematode cysteine protease death - gene product , CED - 3 , has a key role in proteolytic events leading to apoptosis .
In the sentence extracted from 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 apoptotic extracts an...
Here we show that apoptotic extracts and apopain itself specifically cleave the <span class="disease">HD</span> gene product , huntingtin .
In the sentence extracted from 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 rate of cleavage increases with the...
The rate of cleavage increases with the length of the huntingtin polyglutamine tract , providing an explanation for the gain - of - function associated with CAG expansion .
In the sentence extracted from 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 results show that huntingtin is cle...
Our results show that huntingtin is cleaved by cysteine proteases and suggest that <span class="disease">HD</span> might be a <span class="disease">disorder of inappropriate apoptosis</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 5 ' end of the BRCA1 gene lies with...
The 5 ' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21 .
In the sentence extracted from 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 begin to address the hypothesis that...
To begin to address the hypothesis that abnormal regulation of the <span class="disease">breast / ovarian cancer</span> susceptibility gene BRCA1 is a critical step in sporadic breast / ovarian tumorigenesis , we have determined the detailed structure of the BRCA1 genomic 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 show that this region of the genome ...
We show that this region of the genome contains a tandem duplication of approximately 30 kilobases , which results in two copies of BRCA1 exons 1 and 2 , of exons 1 and 3 of the adjacent 1A1 - 3B gene and of the previously reported 295 base pair intergenic 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: Sequence analysis of the duplicated exo...
Sequence analysis of the duplicated exons of BRCA1 and 1A1 - 3B and flanking genomic DNA reveals maintenance of the intron - exon structure and a high degree of nucleotide sequence identity , suggesting that these are non - processed pseudogenes and that the duplication is a recent event in evolutionary terms .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We also show that a processed pseudogen...
We also show that a processed pseudogene of the acidic ribosomal phosphoprotein P1 ( ARPP1 ) is inserted directly upstream of pseudo - BRCA1 exon 1A .
In the sentence extracted from 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 believe that these findings could no...
We believe that these findings could not only confound BRCA1 mutation analysis , but could have implications for the normal and abnormal regulation of BRCA1 transcription , translation and function . .
In the sentence extracted from 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 of small nuclear ribonucleopro...
Deletion of small nuclear ribonucleoprotein polypeptide N ( SNRPN ) in <span class="disease">Prader - Willi syndrome</span> detected by fluorescence in situ hybridization : two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q .
In the sentence extracted from 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 small nuclear ribonucleoprotein pol...
The small nuclear ribonucleoprotein polypeptide N ( SNRPN ) gene is regarded as one of the candidates for <span class="disease">Prader - Willi syndrome</span> ( <span class="disease">PWS</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: We describe two sibs with typical PWS p...
We describe two sibs with typical <span class="disease">PWS</span> presenting deletion of SNRPN detected by fluorescence in situ hybridization ( FISH ) .
In the sentence extracted from 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 a cytogenetically detectable 15...
Neither a cytogenetically detectable 15q12 deletion nor a deletion for the D15S11 , D15S10 , and GABRB3 cosmid probes were found in either 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: This implies a smaller deletion limited...
This implies a smaller deletion limited to the <span class="disease">PWS</span> critical 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: FISH with a SNRPN probe will permit ana...
FISH with a SNRPN probe will permit analysis of <span class="disease">PWS</span> patients with limited deletions not detectable with other probes . .
In the sentence extracted from 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: Expression of the von Hippel - Lindau d...
Expression of the <span class="disease">von Hippel - Lindau disease tumour</span> suppressor gene during human embryogenesis .
In the sentence extracted from 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 von Hippel - Lindau ( VHL ) disease...
The <span class="disease">von Hippel - Lindau ( VHL ) disease</span> product is thought to down - regulate transcription by antagonizing elongin - enhanced transcriptional elongation .
In the sentence extracted from 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 VHL gene mutations predispose ...
Germline <span class="disease">VHL</span> gene mutations predispose to the development of <span class="disease">retinal , cerebellar and spinal haemangioblastomas</span> , <span class="disease">renal cell carcinoma</span> and <span class="disease">phaeochromocytoma</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 , somatic Inactivation of t...
In addition , somatic Inactivation of the <span class="disease">VHL</span> gene is frequent in <span class="disease">sporadic renal cell carcinoma</span> and <span class="disease">haemangioblastoma</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: Regulation of transcript elongation is ...
Regulation of transcript elongation is an important control mechanism for gene expression and the <span class="disease">VHL</span> gene might modify the expression of proto - oncogenes and growth suppressor genes during embryogenesis .
In the sentence extracted from 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 investigated the expressio...
We therefore investigated the expression of <span class="disease">VHL</span> mRNA during human embryogenesis by in situ hybridization studies at 4 , 6 and 10 weeks post conception .
In the sentence extracted from 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 VHL mRNA was expressed in all ...
Although <span class="disease">VHL</span> mRNA was expressed in all three germ layers , strong expression was noted in the central nervous system , kidneys , testis and lung .
In the sentence extracted from 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 kidney , VHL mRNA was differ...
Within the kidney , <span class="disease">VHL</span> mRNA was differentially expressed within renal tubules suggesting that the <span class="disease">VHL</span> gene product may have a specific role in kidney development .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Two alternatively spliced VHL mRNAs cha...
Two alternatively spliced <span class="disease">VHL</span> mRNAs characterized by inclusion ( isoform I ) or exclusion ( isoform II ) of exon 2 are transcribed in adult tissues .
In the sentence extracted from 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 if the two isoforms are ...
To investigate if the two isoforms are differentially expressed during embryogenesis , <span class="disease">VHL</span> mRNA was reverse transcribed from 13 fetal tissues ( 8 - 10 weeks gestation ) .
In the sentence extracted from 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 quantitative distribution of VHL mR...
The quantitative distribution of <span class="disease">VHL</span> mRNA within fetal tissues reflected that seen by in situ hybridization and the ratio of the two <span class="disease">VHL</span> isoforms was similar between tissues .
In the sentence extracted from 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 genes regulated by the VHL...
Although the genes regulated by the <span class="disease">VHL</span> gene product have not yet been identified , our findings are compatible with the hypothesis that <span class="disease">VHL</span> - mediated control of transcriptional elongation may have a role in normal human development . .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Genetic heterogeneity in hereditary bre...
Genetic heterogeneity in <span class="disease">hereditary breast cancer</span> : role of BRCA1 and BRCA2 .
In the sentence extracted from 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 common hereditary forms of breast c...
The common hereditary forms of <span class="disease">breast cancer</span> have been largely attributed to the inheritance of mutations in the BRCA1 or BRCA2 genes .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: However , it is not yet clear what prop...
However , it is not yet clear what proportion of <span class="disease">hereditary breast cancer</span> is explained by BRCA1 and BRCA2 or by some other unidentified susceptibility gene ( 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: We describe the proportion of hereditar...
We describe the proportion of <span class="disease">hereditary breast cancer</span> explained by BRCA1 or BRCA2 in a sample of North American <span class="disease">hereditary breast cancers</span> and assess the evidence for additional susceptibility genes that may confer <span class="disease">hereditary breast or ovar...
In the sentence extracted from 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: Twenty - three families were identified...
Twenty - three families were identified through two high - risk <span class="disease">breast cancer</span> research programs .
In the sentence extracted from 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 analysis was undertaken to esta...
Genetic analysis was undertaken to establish linkage between the <span class="disease">breast or ovarian cancer</span> cases and markers on chromosomes 17q ( BRCA1 ) and 13q ( BRCA2 ) .
In the sentence extracted from 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: Mutation analysis in the BRCA1 and BRCA...
Mutation analysis in the BRCA1 and BRCA2 genes was also undertaken in all 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: The pattern of hereditary cancer in 14 ...
The pattern of <span class="disease">hereditary cancer</span> in 14 ( 61 % ) of the 23 families studied was attributed to BRCA1 by a combination of linkage and mutation analyses .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: No families were attributed to BRCA2 . ...
No families were attributed to BRCA2 .
In the sentence extracted from 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: Five families ( 22 % ) provided evidenc...
Five families ( 22 % ) provided evidence against linkage to both BRCA1 and BRCA2 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: No BRCA1 or BRCA2 mutations were detect...
No BRCA1 or BRCA2 mutations were detected in these five 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: The BRCA1 or BRCA2 status of four famil...
The BRCA1 or BRCA2 status of four families ( 17 % ) could not be determined .
In the sentence extracted from 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 and BRCA2 probably explain the ma...
BRCA1 and BRCA2 probably explain the majority of <span class="disease">hereditary breast cancer</span> that exists in the North American 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: However , one or more additional genes ...
However , one or more additional genes may yet be found that explain some proportion of <span class="disease">hereditary breast cancer</span> . .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: An intronic mutation in a lariat branch...
An intronic mutation in a lariat branchpoint sequence is a direct cause of an <span class="disease">inherited human disorder</span> ( <span class="disease">fish - eye disease</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 first step in the splicing of an in...
The first step in the splicing of an intron from nuclear precursors of mRNA results in the formation of a lariat structure .
In the sentence extracted from 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 distinct intronic nucleotide sequence...
A distinct intronic nucleotide sequence , known as the branchpoint region , plays a central role in this process .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We here describe a point mutation in su...
We here describe a point mutation in such a sequence .