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Discovery Of Genetic Mutations That Cause Stuttering
Discovery Of Genetic Mutations That Cause Stuttering

... Mutation associated with stuttering in family PKST72 • The same mutation occurs in affected individuals in ...
supporting_information1
supporting_information1

... One way to validate clusters is to visually compare the way the elements are clustered between two data sets; this kind of tabulated comparison is shown in Figure S8. However, this approach is difficult to summarize, and may depend on tuning parameter choices. Therefore, we also performed validation ...
Chase, B. A., and Baker, B. S.
Chase, B. A., and Baker, B. S.

... Second, effects of genetic background, not directly reat the terminus of the regulatory hierarchy appear to lated to intersex function, but having an impact on sexdirectly exert this transcriptional control. specific behavior, may have contributed to the effects That dsx may not be the sole locus fu ...
Nucleotide and Deduced Amino Acid Sequence of the 22
Nucleotide and Deduced Amino Acid Sequence of the 22

... tubers have been identified, including severa1 proteinase inhibitors such as proteinase inhibitor I and I1 and the 22-kD protein group (Melville and Ryan, 1972; Bryant et al., 1976; Suh et al., 1990). The 22-kD cathepsin D inhibitor protein of potatoes (PDI) has been purified and characterized (Mare ...
- Journal of Clinical Neurology
- Journal of Clinical Neurology

... gradually progressed over 10 years, and he found it very difficult to stand or to climb stairs. ...
I. Līduma, T. Tračevska, U. Bērs, A. Žileviča. Phenotypic and Genetic
I. Līduma, T. Tračevska, U. Bērs, A. Žileviča. Phenotypic and Genetic

... virulence factors. Summary. Objective. The most important virulence factor of Staphylococcus epidermidis is their capability to form a biofilm on the surfaces of implanted medical devices. The accumulative phase of biofilm formation is linked to the production of intercellular adhesin encoded by the ...
Skeletal muscle actin mRNA. Characterization of the 3
Skeletal muscle actin mRNA. Characterization of the 3

... Chick skeletal muscle A—A. Hybridizations were performed under conditions of excess RNA (as described previously (27). Hybridization reactions were incubated at 68°C for 1-5 hours. Each reaction contained in a total volume of 20 pi about 2000 cpm of 32 P-labelled DNA. ...
LA23 Rearrangements in Non-Hodgkin`s Lymphoma
LA23 Rearrangements in Non-Hodgkin`s Lymphoma

... results reported by Ye et al.” As suspected from the cytogenetic analy~is,’~ LAZ3 rearrangement was found in a proportion of follicular lymphoma cases (13%). These results differs from those of Ye et a1’: who did not observe any BCL-6 alteration in a series of 28 patients with follicular lymphoma. T ...
LNA-PNA Comparison4
LNA-PNA Comparison4

... oligonucleotide for its complementary RNA or DNA target by increasing the melting temperature (Tm) of the duplex. Additionally, the Tm difference between a perfectly matched target and a mismatched target is substantially higher than that observed when a DNA-based oligonucleotide is used. The proper ...
Gene Section SIX1 (sine oculis homeobox homolog 1) (mammalian)
Gene Section SIX1 (sine oculis homeobox homolog 1) (mammalian)

... Diagram of chromosome 14 (A) showing location of the SIX1 gene at 14q23 (clone RP11-1042B17, labeled in SpectrumRed). Clone RPMI-324B11 (labeled in SpectrumGreen) mapped at 14q11.2 was used as control. Metaphase spread (B) and interphase nuclei (C) of the non-malignant, immortalized MCF10A cell line ...
Resources for the map-based cloning of tga1
Resources for the map-based cloning of tga1

... PCR primers matching the contig-ends, amplifying across the gap, and sequencing the gap fragment. This work produced a final assembly of ~169 kb in length (AY883559). BLAST (www.ncbi.nlm.nih.gov) searches identified a match between the ~6 kb region between bnlg252 and bm22.7 to which tga1 was mapped ...
Contents - BITS
Contents - BITS

genetics of deafness
genetics of deafness

... Among genetic deafness, 30 % is syndromic in which deafness is accompanied by other symptoms in endocrine, ocular, cardiac apparatus. The other 70% of genetic deafness is non-syndromic in which other symptoms are not involved (only deafness). The non-syndromic deafness is the one in which we are int ...
Transgenic Plastids in Basic Research and Plant Biotechnology
Transgenic Plastids in Basic Research and Plant Biotechnology

... to effective inhibition of plastid protein biosynthesis by spectinomycin (an aminoglycoside antibiotic speci®cally blocking translation on prokaryotic-type 70 S ribosomes). A successfully transformed chloroplast expresses the spectinomycin-resistance gene, aadA, thus allowing for continued cell and ...
Detection of aneuploidy in a single cell using the Ion ReproSeq PGS
Detection of aneuploidy in a single cell using the Ion ReproSeq PGS

... quick and efficient analysis and verification of multiple samples at a time, using built-in quality metrics and filters (Figure 5). Data analysis: Aneuploidy detection was performed using an algorithm based on a hidden Markov model (HMM). The algorithm uses read coverage across the genome to predict ...
CHAPTER 7 DNA Mutation, DNA Repair and Transposable Elements
CHAPTER 7 DNA Mutation, DNA Repair and Transposable Elements

... i. Different his tester strains are available, to test for base-substitution and frameshift mutations. ii. Liver enzymes (the S9 extract) are mixed with the test chemical to determine whether the liver’s detoxification pathways convert it to a mutagenic form. iii. More revertants in the region of th ...
Computational approaches to understanding the genetic
Computational approaches to understanding the genetic

... Advances in DNA sequencing technology have resulted in the ability to generate genetic data at costs unimaginable even ten years ago. This has resulted in a tremendous amount of data, with large studies providing genotypes of hundreds of thousands of individuals at millions of genetic locations. Thi ...
Alzheimer`s Disease Genetics Fact Sheet
Alzheimer`s Disease Genetics Fact Sheet

... Scientists do not yet fully understand what causes Alzheimer’s disease (AD). However, the more they learn about AD, the more they become aware of the important function genes* play in the development of this devastating disease. ...
Updated slides on gene prediction
Updated slides on gene prediction

... An Introduction to Bioinformatics Algorithms ...
Author`s personal copy
Author`s personal copy

... If a highly efficient method for mutant construction is developed, a genome-wide analysis of gene function is possible (Hammelmann and Soppa, 2008). It would not only accelerate the genome-wide identification of the genes responsible for PHA biosynthesis, but may also be used to genetically engineer ...
Functional analysis of a type-2C protein phosphatase (AtPP2C52) in
Functional analysis of a type-2C protein phosphatase (AtPP2C52) in

... concentrations of Mg2+ and Mn2+ do not fluctuate substantially under physiological conditions. ...
Epigenetic inheritance of acquired traits through sperm RNAs and
Epigenetic inheritance of acquired traits through sperm RNAs and

Toll-7
Toll-7

... - We will cross the Toll-7 construct into flies that produce GAL4 in the CNS - If Toll-7 has a role in the the development of the CNS we would expect to see developmental ...
ppt12
ppt12

... Assume we have two loci, each bearing two alleles (Aa and Bb) Assume that the basal state of the population is homogenous with alleles ab f(A) - The relative fitness of A is defined using the growth rate of the genome Ab f(B) - The relative fitness of B is defined using the growth rate of the genome ...
1 Rapid evolution of phenotypic plasticity and shifting thresholds of
1 Rapid evolution of phenotypic plasticity and shifting thresholds of

... survival). Two factors, rearing environment and selection regime, as well as one continuous variable, average heat shock temperature, and all interactions were tested in the full model. We also tested for environment and environment-by-heat shock temperature interactions within each selection line. ...
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RNA-Seq



RNA-seq (RNA sequencing), also called whole transcriptome shotgun sequencing (WTSS), is a technology that uses the capabilities of next-generation sequencing to reveal a snapshot of RNA presence and quantity from a genome at a given moment in time.
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