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Alpha -antitrypsin  alleles  in  patients  with ... emphysema,  detected  by  DNA  amplification ...
Alpha -antitrypsin alleles in patients with ... emphysema, detected by DNA amplification ...

... by complex formation with the protease inhibitors [4]. The most potent inhibitor in humans is the serine protease inhibitor alpha1-antitrypsin (AAT or Pi), which is almost exclusively secreted by liver cells (for review see [5]). The inactivation of the elastase is normally so efficient that no acti ...
Chapter 2. Structures of Nucleic Acids
Chapter 2. Structures of Nucleic Acids

... were thought to be short oligonucleotides (four or five nucleotides long), functioning primarily in phosphate storage. Thus proteins, with their greater complexity, were the favored candidate for the transforming entity, at least before the experiment was done. Different biochemical fractions of the ...
Metatranscriptomic analysis of the Gut microbial community
Metatranscriptomic analysis of the Gut microbial community

...  Validate a cecum cannulated humanized pig model with capabilities to perform continuous real-time monitoring to evaluate gut microbial community dynamics and microbial gene expression.  First animal model that will allow continuous real-time monitoring of the human microbiome  Glimpse into the w ...
Major influence of repetitive elements on disease
Major influence of repetitive elements on disease

... presents examples of high copy repeats that have been detected at the breakpoints of disease-associated CNVs. Borun and colleagues [23] reported the presence of CNV breakpoints within Alu elements in the STK11 gene which lead to the Peutz-Jeghers syndrome (OMIM #175200), where CNVs account for 30 % ...
Exam 2 (pdf - 592.95kb)
Exam 2 (pdf - 592.95kb)

... Use the following information to answer Question 24. The peppered moth, Biston betularia, has two forms, a dark form and a light form. The colour of the moth is under the control of a gene locus with two alleles, B (dark) and b (light). The dark phenotype is dominant. Moths rest during the day on th ...
1 A CAPS marker, FER-G8, for detection of Ty3 and Ty3a alleles
1 A CAPS marker, FER-G8, for detection of Ty3 and Ty3a alleles

... to T0834 (32 cM), which would include the loci for Ty-1 and Ty-3 (Maxwell, unpublished data). SCAR or CAPS markers have been developed to detect the Ty-1 and Ty-3 loci (see this web site). Unfortunately, the co-dominant SCAR marker, FLUW25, only detected the Ty-3 introgression from LA2779 and not th ...
Van, C., Williams, J.S., Kunkel, T.A., and
Van, C., Williams, J.S., Kunkel, T.A., and

... monitoring the frequency of 5-FOA or canavanine resistance, respectively. Resistance to 5FOA in the pol3-L612M swr1Δ double mutant strain was 2-fold higher than for the pol3L612M single mutant strain (Fig. 1A). This difference is significant as indicated by no overlap in the 95% confidence intervals ...
Single nucleotide polymorphisms and the future of genetic
Single nucleotide polymorphisms and the future of genetic

... to detect it. For example, the first systematic studies of single base variants were pursued through the identification of restriction enzyme sites, where a single base pair change could result in the loss or gain of a restriction site. Digestion of a piece of DNA containing the relevant site with a ...
Gene prediction and Genome Annotation
Gene prediction and Genome Annotation

... ProCoGen Dissemination Workshop, Riga, 5 nov 2013 “Conifer sequencing: basic concepts in conifer genomics” ...
Biology 343 Lab (Dorn, Shade)
Biology 343 Lab (Dorn, Shade)

... designed to give you hands-on experience with modern genetics techniques. It is not designed to coincide very much with your lecture material; in fact, it could be a course of its own, which is what may happen to it someday. You will be learning molecular lab techniques that are useful for genetics, ...
Introduction and Preliminaries - Department of Computer and
Introduction and Preliminaries - Department of Computer and

...  Human genome is distributed over 24 chromosomes  Each cell contains 46 chromosomes 22 pairs common to both males and females 2 sex chromosome X and Y in males and two Xs in female ...
A GENETIC LINKAGE MAP OF Phycomyces blakesleeanus
A GENETIC LINKAGE MAP OF Phycomyces blakesleeanus

... mycelium also shows responses by photo-induction of β-carotene synthesis and the initiation of sporangiophores. The responses to light have been most thoroughly analyzed, in part driven by the efforts of Nobel laureate Max Delbrück who aimed to develop Phycomyces into the “phage of vision” (Cohen e ...
Mutator Transposon in Maize and MULEs in the Plant Genome
Mutator Transposon in Maize and MULEs in the Plant Genome

... Mu insertions, especially germinally transmitted insertions [14]. Only two maize lines with active MuDR elements have been identified so far, but all maize lines carry MuDR elements derivatives, or homologous MuDR sequences (hMuDRs), whose coding sequences are 80%–99% identical to those of MuDR. Sur ...
Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion
Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion

... • Determine if parents of an affected individual are carriers (the affected individual should be tested first, if possible) ...
(base) sequence of the genome might reflect biological information
(base) sequence of the genome might reflect biological information

... of chromosome II was enlarged to 990 nt (Figure 2(c), 648 ~ 1,638), or 1,584 nt (Figure 2(d), 54 ~ 1,638), respectively. That is, the base sequence of the complete ATP1 gene had self-similarity to the gene-position on chromosome II. Other genes of S. cerevisiae were highly homologous with the gene-p ...
Lecture 2 Turunen 14.9. - MyCourses
Lecture 2 Turunen 14.9. - MyCourses

... • Ribosome dissociates into subunits • Polypeptides released at termination may function alone or together ...
Methods S1
Methods S1

... leaves of wheat seedlings. Primers were designed for the reference genes RLIL and TA.6863 using Primer-blast (Ye et al., 2012) to target wheat as well as rye sequences (Table S3). Primers for the reference gene ADP were described by Gimenez et al. (2011). Primer and probes for the Pm8 gene were desi ...
MS Word document - Sequence Ontology
MS Word document - Sequence Ontology

... 1. Assumption that a transcript is part of a gene is flawed because of polycistronic transcripts. What is a polycistronic_mRNA? 2. There are issues related to ‘time’ that cause problems in the transitivity of the parts of transcripts. There is a time difference between primary and processed transcri ...
imbalances within regions containing large
imbalances within regions containing large

... <400 bp to 40 kb. This region contains an autosomal dominant deafness gene, DFN24. The possibility of further molecular studies to determine if mutations/deletions of DFN24 are present in the proband are being considered (Figure 5). * The duplications or deletions at 1p36.33 (RP11-703E10) and 22q13. ...
The chemical constitution of the body
The chemical constitution of the body

... Staff and students of the University of Roehampton are reminded that copyright subsists in this extract and the work from which it was taken. This Digital Copy has been made under the terms of a CLA licence which allows you to: * access and download a copy; * print out a copy; Please note that this ...
Germs, genomes and genealogies
Germs, genomes and genealogies

... successful and ongoing colonization of a host. Therefore, analyses of pathogen genomes can not only tell us things about the history of disease (when did the epidemic begin?), but can also inform efforts to understand (which genetic changes made the ancestral organism pathogenic?) and control the di ...
Combining Machine Learning and Homology-Based
Combining Machine Learning and Homology-Based

... • Experimental efforts have generated valuable information, however, cataloging all subcellular proteomes is far from complete, as experimental methods are expensive and more time consuming. • Alternatively, computational prediction systems provide fast, economic (mostly free), automatic, and reason ...
Novel visual system homeobox 1 gene mutations in Turkish patients
Novel visual system homeobox 1 gene mutations in Turkish patients

... health is more severe than would be expected, given its prevalence and clinical severity. KC is associated with a significantly impaired vision-related quality of life that continues to decline over time. It is one of the major indications for corneal transplant (Kymes et al., 2008). The disease usu ...
Haritsa - CSE, IIT Bombay
Haritsa - CSE, IIT Bombay

... Limitations:  RDBMS approach of “the world is a flat collection of tables with simple attributes” suits financial applications, NOT scientific (biological) applications  In particular, taxonomic / spatial / sequence / multimedia data modeling and processing are very cumbersome and coarse BODHI ...
Molecular Evolution of the CMT1A-REP Region: A Human
Molecular Evolution of the CMT1A-REP Region: A Human

... 200-bp product was obtained. Sequence analysis demonstrated that in these three species, the AluSc element is absent at this locus (data not shown). The results for primers T1/D2, which amplify the telomeric boundary of the distal REP, are shown in figure 3b. Fragments of the predicted size (;580 bp ...
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Genomics

Genomics is a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes (the complete set of DNA within a single cell of an organism). Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain. The field includes efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of the roles and functions of single genes is a primary focus of molecular biology or genetics and is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.
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