PDF manual - QIAGEN Bioinformatics
... mapped. The default is 0.9 which means that at least 90 % of the bases need to align to the reference. • Minimum similarity fraction. This parameter is available when at least one sequence list entered contains sequence(s) 56bp or longer. It specifies how similar the matching part of the read should ...
... mapped. The default is 0.9 which means that at least 90 % of the bases need to align to the reference. • Minimum similarity fraction. This parameter is available when at least one sequence list entered contains sequence(s) 56bp or longer. It specifies how similar the matching part of the read should ...
A TaqI polymorphism in the 3 UTR of the IL-12
... The fact that the TaqI polymorphism in the p40 gene has an effect on IL-12 p70 secretion, but not on IL-12 p40 secretion, is of considerable interest and, at first glance, may appear counterintuitive. One possibility is that the polymorphism affects p40 homodimer formation, which, in turn, influence ...
... The fact that the TaqI polymorphism in the p40 gene has an effect on IL-12 p70 secretion, but not on IL-12 p40 secretion, is of considerable interest and, at first glance, may appear counterintuitive. One possibility is that the polymorphism affects p40 homodimer formation, which, in turn, influence ...
Hereditary hemorrhagic telangiectasia: genetics and molecular
... telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in th ...
... telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in th ...
Cooperative Effects of Bacterial Mutations Affecting A N Gene
... the growth of A variants which carry various mutations, mar, that map in the A N gene. Georgopoulos (1971) has shown that a mutation located in the rif region was necessary for a bacterial mutant, groN, to inhibit N expression. The studies of Sternberg (1976) demonstrate that a rifR mutation which h ...
... the growth of A variants which carry various mutations, mar, that map in the A N gene. Georgopoulos (1971) has shown that a mutation located in the rif region was necessary for a bacterial mutant, groN, to inhibit N expression. The studies of Sternberg (1976) demonstrate that a rifR mutation which h ...
Multiple Domains Exist within the Upstream Activator
... direct the synthesis and secretion of unusual amino acid and sugar derivatives called opines. The inciting strain of Agrobacterium can utilize these opines as a carbon and sometimes a nitrogen source. Agrobacterium strains can be classified based upon their ability to catabolize particular opines. ( ...
... direct the synthesis and secretion of unusual amino acid and sugar derivatives called opines. The inciting strain of Agrobacterium can utilize these opines as a carbon and sometimes a nitrogen source. Agrobacterium strains can be classified based upon their ability to catabolize particular opines. ( ...
HS-SCI-APB-Unit 3 -- Chapter 14- Mendel and the
... In 1843, at the age of 21, Mendel entered an Augustinian monastery, a reasonable choice at that time for someone who valued the life of the mind. He considered becoming a teacher but failed the necessary examination. In 1851, he left the monastery to pursue two years of study in physics and chemistr ...
... In 1843, at the age of 21, Mendel entered an Augustinian monastery, a reasonable choice at that time for someone who valued the life of the mind. He considered becoming a teacher but failed the necessary examination. In 1851, he left the monastery to pursue two years of study in physics and chemistr ...
Robust gene silencing mediated by antisense small RNAs in the
... extensive transcriptome data sets are available and used to find genes that lacked expression under oxidative or nitrosative stress (32), heat shock (33), histone acetylation (34), DNA methylation (35) or tissue invasion (25,36). EHI_197520 had abundant sRNAs and low gene expression in the HM-1:IMSS ...
... extensive transcriptome data sets are available and used to find genes that lacked expression under oxidative or nitrosative stress (32), heat shock (33), histone acetylation (34), DNA methylation (35) or tissue invasion (25,36). EHI_197520 had abundant sRNAs and low gene expression in the HM-1:IMSS ...
Table 2
... pathways, can help prioritize candidate genes for further analysis. However, with rare exceptions, mutations in genes ...
... pathways, can help prioritize candidate genes for further analysis. However, with rare exceptions, mutations in genes ...
The Ehlers–Danlos syndrome, a disorder with many faces
... hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in genes encoding fibrillar collagens or enzymes involved in post-translational modification of these proteins ...
... hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in genes encoding fibrillar collagens or enzymes involved in post-translational modification of these proteins ...
... The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal in open access, devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases. It presents structured review articles (“cards”) on genes, leukaemias, solid tumours, canc ...
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... of the Tn5::LacZ reporter. The stal- mutation is unlinked to the Tn5::LacZ insertion and has uninducible i3-galactosidase expression. The sta2- mutation is linked to the Tn5::LacZ insertion (50% cotransduction) and expresses 13-galactosidase constitutively. By constructing the appropriate merodiploi ...
... of the Tn5::LacZ reporter. The stal- mutation is unlinked to the Tn5::LacZ insertion and has uninducible i3-galactosidase expression. The sta2- mutation is linked to the Tn5::LacZ insertion (50% cotransduction) and expresses 13-galactosidase constitutively. By constructing the appropriate merodiploi ...
T1 transgenic tobacco plants
... is an urgent issue in order to protect the world’s food safety nowadays. Current preserving method such as drying, mixing with inert dust, or stirring are time-consuming and inefficient, while chemical treatment may cause risks of environmental pollution and poisoning for humans and animals. Plant d ...
... is an urgent issue in order to protect the world’s food safety nowadays. Current preserving method such as drying, mixing with inert dust, or stirring are time-consuming and inefficient, while chemical treatment may cause risks of environmental pollution and poisoning for humans and animals. Plant d ...
Hereditary ataxias: overview
... used prior to the identification of the molecular genetic basis of these disorders were Marie’s ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term, spinocerebellar degeneration. Clinical features of ADCA. The age of onset and physical findings in the ...
... used prior to the identification of the molecular genetic basis of these disorders were Marie’s ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term, spinocerebellar degeneration. Clinical features of ADCA. The age of onset and physical findings in the ...
D:\My Documents\WordPerfect\WordPerfect 8.0\2001Report
... Estimation of the genetic risks of exposure to ionizing radiation has been a continuing endeavour of the Committee. In the previous assessment in the UNSCEAR 1993 Report [U4], the Committee considered advances in human and radiation genetics relevant to estimating the risks of hereditary effects of ...
... Estimation of the genetic risks of exposure to ionizing radiation has been a continuing endeavour of the Committee. In the previous assessment in the UNSCEAR 1993 Report [U4], the Committee considered advances in human and radiation genetics relevant to estimating the risks of hereditary effects of ...
Misregulation of pre-mRNA splicing that causes human diseases
... splicing machinery, which results in recognition of splicesites located near an enhancer (Hertel et al, 1997). The degeneracy of splicing enhancers is most likely necessary to allow for the amino acid usage needed. The importance of splice-site enhancers becomes apparent when they are changed by mut ...
... splicing machinery, which results in recognition of splicesites located near an enhancer (Hertel et al, 1997). The degeneracy of splicing enhancers is most likely necessary to allow for the amino acid usage needed. The importance of splice-site enhancers becomes apparent when they are changed by mut ...
Association of Interleukin-1 Receptor Antagonist Gene 86bp VNTR
... organs [1, 2]. The prevalence of this disease varies between different races, countries and various socioeconomic statuses [3] and the existence of SLE in women is 10 times more than men [4]. Although the main etiology of this disease is not entirely known, both genetic and environmental factors are ...
... organs [1, 2]. The prevalence of this disease varies between different races, countries and various socioeconomic statuses [3] and the existence of SLE in women is 10 times more than men [4]. Although the main etiology of this disease is not entirely known, both genetic and environmental factors are ...
Scientific and Standardization Committee Communication Protein S
... completely abrogated protein S expression, whereas others did express, albeit at a reduced level. This suggests that each mutation may have an individual effect on phenotype and that broad generalisation will not be possible (S. Rezende, Personal Communication). Thus, evidence is accumulating that t ...
... completely abrogated protein S expression, whereas others did express, albeit at a reduced level. This suggests that each mutation may have an individual effect on phenotype and that broad generalisation will not be possible (S. Rezende, Personal Communication). Thus, evidence is accumulating that t ...
1 shared allele
... Age, sex (male>female), smoking, physical inactivity, stress GWAs studies have identified candidate CAD risk genes that function within biological pathways related to serum lipid transport and metabolism, vasoactivity, blood coagulation, inflammatory and immune pathways, and arterial wall components ...
... Age, sex (male>female), smoking, physical inactivity, stress GWAs studies have identified candidate CAD risk genes that function within biological pathways related to serum lipid transport and metabolism, vasoactivity, blood coagulation, inflammatory and immune pathways, and arterial wall components ...
Mende an the Gee 11I+t
... plants would have pale purple flowers, a trait intermediate between those of the P generation. Notice in Figure 14.2 that the experiment produced a very different result: All the F] offspring had flowers just as purple as the purple-flowered parents. What happened to the white-flowered plants' genet ...
... plants would have pale purple flowers, a trait intermediate between those of the P generation. Notice in Figure 14.2 that the experiment produced a very different result: All the F] offspring had flowers just as purple as the purple-flowered parents. What happened to the white-flowered plants' genet ...
Antibiotic susceptibility pattern among Staphylococcus spp. with
... may be in part explained by the prescription of penicillin and oxacillin for a long time in contrast to vancomycin in other countries. MRSA infection has recently become a serious problem in anti-microbial chemotherapy. This is why during the past four decades, MRSA has spread throughout the world a ...
... may be in part explained by the prescription of penicillin and oxacillin for a long time in contrast to vancomycin in other countries. MRSA infection has recently become a serious problem in anti-microbial chemotherapy. This is why during the past four decades, MRSA has spread throughout the world a ...
Survival of photoreceptor neurons in the compound
... electron microscopy level showed that they develop appropriately, displaying the characteristic arrangement of photoreceptor cells seen in normal compound eyes (Marcey and Stark, 1985). However, these studies ...
... electron microscopy level showed that they develop appropriately, displaying the characteristic arrangement of photoreceptor cells seen in normal compound eyes (Marcey and Stark, 1985). However, these studies ...
Familial Adenomatous Polyposis (FAP)
... How do we know who has FAP? Your family may have FAP if: • Several family members have had colon cancer or polyps. • One of your relatives has had many polyps. • A relative has had colon cancer at a young age with polyps. FAP can have other effects on the body as well as causing polyps. Some peo ...
... How do we know who has FAP? Your family may have FAP if: • Several family members have had colon cancer or polyps. • One of your relatives has had many polyps. • A relative has had colon cancer at a young age with polyps. FAP can have other effects on the body as well as causing polyps. Some peo ...
genetic disorders associated with macrocephaly
... associated with a distinctive MRI appearance. It typically presents in infants less than 2 years of age who have a severe regressive course associated with seizures, pyramidal spasticity and feeding difficulties. Juvenile and adult forms are also described but all types are caused by autosomal domin ...
... associated with a distinctive MRI appearance. It typically presents in infants less than 2 years of age who have a severe regressive course associated with seizures, pyramidal spasticity and feeding difficulties. Juvenile and adult forms are also described but all types are caused by autosomal domin ...
Traversing the conceptual divide between biological and
... phage display, immunoprecipitation, pull-down assays and gel retardation analysis. Interestingly, Ubx and DIP1 are coexpressed in the same embryonic tissues and are both localized to the nucleus. Further, ectopic expression of DIP1 in wing and haltere imaginal discs results in an abnormal developmen ...
... phage display, immunoprecipitation, pull-down assays and gel retardation analysis. Interestingly, Ubx and DIP1 are coexpressed in the same embryonic tissues and are both localized to the nucleus. Further, ectopic expression of DIP1 in wing and haltere imaginal discs results in an abnormal developmen ...
The new cardiac genetic testing panels
... UKGTN Clinical and Scientific Advisory Group (previously UKGTN Steering Group) for endorsement. Following this endorsement the recommendations are reported to NHS England and equivalent organisations in Wales, Scotland and Northern Ireland. Each devolved nation follows its own process to consider ad ...
... UKGTN Clinical and Scientific Advisory Group (previously UKGTN Steering Group) for endorsement. Following this endorsement the recommendations are reported to NHS England and equivalent organisations in Wales, Scotland and Northern Ireland. Each devolved nation follows its own process to consider ad ...