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Down Syndrome: Antonarakis et al. (2004)
Down Syndrome: Antonarakis et al. (2004)

... We might consider that there are two categories of genes on human chromosome 21 (HSA21); those that are dosage sensitive (that is, three copies result in phenotypic effects; shown in red) and contribute to the phenotypes of Down syndrome (DS), and those that are not dosage sensitive (green) and ther ...
Conflicting patterns of mitochondrial and nuclear DNA diversity in
Conflicting patterns of mitochondrial and nuclear DNA diversity in

... (García-Moreno 2004; Lovette 2004), the qualitative conclusions of our results will remain even with very different rates. The amount of within-species genetic variation for each locus was estimated as nucleotide diversity (π) and segregating sites (s) in dnasp (Rozas & Rozas 1997). We used Tajima’s ...
Introduction to Bioinformatics 2. Biology Background
Introduction to Bioinformatics 2. Biology Background

... The Expect value (E) is a parameter that describes the number of hits one can "expect" to see just by chance when searching a database of a particular size. It decreases exponentially with the Score (S) that is assigned to a match between two sequences. Essentially, the E value describes the random ...
molecular phylogeny of the haplosporidia based on
molecular phylogeny of the haplosporidia based on

... groups to the relative inclusion and exclusion of potentially phylogenetically informative sites. In the first series of analyses, which concerned the relative position of Haplosporidia within Eukaryota, it was noted that there were large inserted regions in the SSU rDNA sequences of some taxa, incl ...
ZRII ACHIEVE™ PRODUCT INFORMATION
ZRII ACHIEVE™ PRODUCT INFORMATION

... tannic acids, phytonutrients, trace minerals and other beneficial nutrients. Why did you include non-GMO soy protein in the product? Soy is naturally high in protein, rich in complex carbohydrates, high in fiber, and free of lactose, making it a good protein choice for many people. Achieve uses only ...
Dynamics and genetic diversification of Escherichia coli
Dynamics and genetic diversification of Escherichia coli

Inhibition of breast and brain cancer cell growth by BCCIPa
Inhibition of breast and brain cancer cell growth by BCCIPa

... A third model involves the cellular localization of BRCA2 proteins. The functional nuclear localization signals (NLS) for BRCA2 have been identi®ed near the C-terminus (Spain et al., 1999; Yano et al., 2000). Most of the BRCA2 mutations identi®ed in breast cancers are truncations, resulting in delet ...
Identification of a family of BspA like surface proteins of Entamoeba
Identification of a family of BspA like surface proteins of Entamoeba

Fatty Acid Biosynthesis
Fatty Acid Biosynthesis

... HS-CH2-CH2-N-C-CH2-CH2-N-C-C-C-CH2-O-P-O-P-O-CH2 O O ...
Meiosis and independent assortment
Meiosis and independent assortment

... Are no distinct categories to place individuals Tends to have overlap between categories Are controlled by a large number of genes Are significantly affected by the environment ...
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a

... Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent assoc ...
Analysis of Gene Regulatory Network Motifs in
Analysis of Gene Regulatory Network Motifs in

... However, the analysis of motifs on an evolutionary scale requires the data of many individuals from different evolutionary stages. These data are (currently) not available in biology. Therefore, it seems advisable to support the biological analysis with the results from computational models. Even th ...
C1. Duplications and deficiencies involve a change in the total
C1. Duplications and deficiencies involve a change in the total

... C30. The turtles are two distinct species that appear phenotypically identical. The turtles with 48 chromosomes are polyploid relatives (i.e., tetraploids) of the species with 24 chromosomes. In animals, it is somewhat hard to imagine how this could occur because animals cannot self-fertilize, so th ...
However, if
However, if

... so it is ironic that it was his experiments on the fruit fly that provided the significant evidence needed by scientists before they could finally accept Sutton and Boveri’s chromosome theory of inheritance. Morgan’s experiments showed without any doubt that: ■ the gene for eye colour in fruit flies ...
Chromosome number 2
Chromosome number 2

... ◦ i. Normal individuals have 6 to 54 CGG repeats, with an average of 29. ◦ ii. Normal transmitting carrier males, their daughters, and some other carrier females have 55 to 200 copies but do not show symptoms. ◦ iii.Individuals with fragile X syndrome have 200 to 1,300 copies, indicating that tandem ...
March 28
March 28

... R.  Forchheimer,  Systems  Biology  Seminar  2012-­‐03-­‐28 ...
Uncoupling effect of fatty acids on heart muscle
Uncoupling effect of fatty acids on heart muscle

... hydrocarbon chain of the anion. Thermogenin is absent from tissue other than brown fat, but nevertheless fatty acids can uncouple in these other tissues (for reviw, see [S]). We assumed [2,5] that in these cases the role of the fatty acid anion porter is performed by ATP/ADP antiporter, a protein wh ...
Polymorphic miRNA-mediated gene regulation: contribution to
Polymorphic miRNA-mediated gene regulation: contribution to

... are endowed with additional functions. Paradoxically, target site avoidance has been as informative as target site content. Quite logically, given that they have to operate in all cell types, the 30 UTRs of housekeeping genes are depleted in target sites in general and (presumably as a means to avoi ...
English
English

... University of Southern Denmark. This practical illustrates adaptation by natural selection for a trait, in this case motility of animals with genetically specified morphology, assembled from six Lego® bricks. The animals are called legorgs, (short for leg-organisms) since they only consist of a leg. ...
Document
Document

... C30. The turtles are two distinct species that appear phenotypically identical. The turtles with 48 chromosomes are polyploid relatives (i.e., tetraploids) of the species with 24 chromosomes. In animals, it is somewhat hard to imagine how this could occur because animals cannot self-fertilize, so th ...
Presence of a mitochondrial-type 70
Presence of a mitochondrial-type 70

... sexine–lysine–leucine peroxisomal targeting sequences provides support for this hypothesis (46). It is thus easier to imagine that these numerous cases correspond to a conserved possibility of converting mitochondria or peroxisomes to hydrogenosomes rather than to several independent bacterial symbi ...
letters
letters

... antagonistic polymorphism, for example, frequency-dependent selection, migration or mutation. Alternatively, even transient polymorphisms could trigger the hijack mechanism, providing that the total fitness variation at sexually antagonistic loci generated by transient polymorphisms is sufficiently ...
Ii.
Ii.

... a slipped mispairing process during DNA replication. ◦ v. The FMR-1 product (FMRP) is an RNA-binding protein. The triplet repeat expansion in FMR-1 affects expression of certain mRNAs, blocking protein synthesis. FMRP is active at synapses in the brain. ◦ vi. In individuals with the full mutation, C ...
Reebops - Kennesaw State University | College of Science and
Reebops - Kennesaw State University | College of Science and

... up and bunched together it is called a chromosome. Each chromosome is a separate piece of DNA, so a cell with eight chromosomes has eight long pieces of DNA. A gene is a segment of the long DNA molecule. Different genes may be different lengths. Each gene is a code for how a certain molecule can be ...
Syndromic Craniosynostosis
Syndromic Craniosynostosis

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Point mutation



A point mutation, or single base modification, is a type of mutation that causes a single nucleotide base change, insertion, or deletion of the genetic material, DNA or RNA. The term frameshift mutation indicates the addition or deletion of a base pair. A point mutant is an individual that is affected by a point mutation.Repeat induced point mutations are recurring point mutations, discussed below.
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