
Building Individualized Medicine: Prevention of Adverse Reactions
... large groups of patients stratified according to their dose requirements. This approach uses genetic markers rather than functional polymorphisms and therefore does not provide information about possible mechanisms behind alterations in drug response. Instead, it relies on the assumption that a muta ...
... large groups of patients stratified according to their dose requirements. This approach uses genetic markers rather than functional polymorphisms and therefore does not provide information about possible mechanisms behind alterations in drug response. Instead, it relies on the assumption that a muta ...
Standards and guidelines for the interpretation of sequence
... pathogenic and benign effects, respectively. Thus, it is recommended that both terms be replaced by the term “variant” with the following modifiers: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign. Although these modifiers may not address all h ...
... pathogenic and benign effects, respectively. Thus, it is recommended that both terms be replaced by the term “variant” with the following modifiers: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign. Although these modifiers may not address all h ...
Autotrophic CO2 fixation via the reductive tricarboxylic acid cycle in
... inorganic carbon as the source for cell carbon – are likely to have been among the first types of organisms on Earth (e.g. Huber and Wächtershäuser, 1997; Russell and Hall, 1997). Phylogenetic analyses based on 16S rRNA and whole genomes place autotrophic hyperthermophiles at the base of the evoluti ...
... inorganic carbon as the source for cell carbon – are likely to have been among the first types of organisms on Earth (e.g. Huber and Wächtershäuser, 1997; Russell and Hall, 1997). Phylogenetic analyses based on 16S rRNA and whole genomes place autotrophic hyperthermophiles at the base of the evoluti ...
Comparison of Ligand-Binding Sites of Modeled Apo[a] Kringle
... crystallographic structure of PGK4 in evaluating the putative ligand-binding sites of the apo[a] kringle-like sequences. Thus, the coordinates of PGK435 were used to generate molecular graphic models of the apo[a] PGK4-like kringles. In PGK4, the ligand-binding site, which has both dipolar and hydro ...
... crystallographic structure of PGK4 in evaluating the putative ligand-binding sites of the apo[a] kringle-like sequences. Thus, the coordinates of PGK435 were used to generate molecular graphic models of the apo[a] PGK4-like kringles. In PGK4, the ligand-binding site, which has both dipolar and hydro ...
Adenomatous Polyp
... What types of mutations are likely to be present in such a lesion? There is progressive accumulation of mutations during the conversion of adenomas to carcinomas. In this scheme, mutations of the APC gene (resulting in homozygous loss of this tumor suppressor gene) are believed to occur first. (Pat ...
... What types of mutations are likely to be present in such a lesion? There is progressive accumulation of mutations during the conversion of adenomas to carcinomas. In this scheme, mutations of the APC gene (resulting in homozygous loss of this tumor suppressor gene) are believed to occur first. (Pat ...
The American University in Cairo School of Science and Engineering
... using a wide variety of techniques such as insertional mutagenesis, site-directed and sitesaturation mutagenesis, random replacement mutagenesis, DNA shuffling, and random insertional deletional strand exchange mutagenesis (Babic et al., 2006). These experiments are mainly used in order to show how ...
... using a wide variety of techniques such as insertional mutagenesis, site-directed and sitesaturation mutagenesis, random replacement mutagenesis, DNA shuffling, and random insertional deletional strand exchange mutagenesis (Babic et al., 2006). These experiments are mainly used in order to show how ...
COMPUTATIONAL MODELING OF CHARGE TRANSFER IN NUCLEOBASE-AROMATIC AMINO ACID COMPLEXES Cristina BUTCHOSA ROBLES
... Oxidative damage on DNA produces radical cation states. These states are also called electron ”holes”. Electron holes can migrate long distances through the nucleobases stack, due to conductivity properties of DNA. Finally, the cationic charge could be trapped and most probably a mutagenic lesion wi ...
... Oxidative damage on DNA produces radical cation states. These states are also called electron ”holes”. Electron holes can migrate long distances through the nucleobases stack, due to conductivity properties of DNA. Finally, the cationic charge could be trapped and most probably a mutagenic lesion wi ...
Revisiting the Physico-Chemical Hypothesis of Code Origin: An
... The co-evolution theory, an influential alternative to the physico-chemical theory of code evolution was proposed by Wong (1975, 1976, 1980, 2005) and subsequently refined and championed by Di Giulio and collaborators (Di Giulio 1996; Di Giulio and Medugno 1998, 1999, 2001; Di Giulio 2008). The co-e ...
... The co-evolution theory, an influential alternative to the physico-chemical theory of code evolution was proposed by Wong (1975, 1976, 1980, 2005) and subsequently refined and championed by Di Giulio and collaborators (Di Giulio 1996; Di Giulio and Medugno 1998, 1999, 2001; Di Giulio 2008). The co-e ...
cyclodextrin polymer for adsorption of aromatic amino acids
... b-Cyclodextrin (b-CyD) was cross-linked by hexamethylene diisocyanate and the polymer was investigated for adsorption of aromatic amino acids (AAA) from phosphate buffer. High adsorption rates were observed at the beginning and the adsorption equilibrium was then gradually achieved in about 45 min. ...
... b-Cyclodextrin (b-CyD) was cross-linked by hexamethylene diisocyanate and the polymer was investigated for adsorption of aromatic amino acids (AAA) from phosphate buffer. High adsorption rates were observed at the beginning and the adsorption equilibrium was then gradually achieved in about 45 min. ...
`Candidatus Phytoplasma mali`, `Candidatus Phytoplasma pyri` and
... the most economically important plant diseases that are caused by phytoplasmas. Phylogenetic analyses revealed that the 16S rDNA sequences of strains of each of these pathogens were identical or nearly identical. Differences between the three phytoplasmas ranged from 1?0 to 1?5 % of nucleotide posit ...
... the most economically important plant diseases that are caused by phytoplasmas. Phylogenetic analyses revealed that the 16S rDNA sequences of strains of each of these pathogens were identical or nearly identical. Differences between the three phytoplasmas ranged from 1?0 to 1?5 % of nucleotide posit ...
Enzymatic activation of sulfur for incorporation into biomolecules in
... pyridoxal phosphate (Fig. 3). Perhaps the crystallized conformation depicts the state of NifS/IscS passing the activated sulfur to a downstream acceptor. 2006 Federation of European Microbiological Societies Published by Blackwell Publishing Ltd. All rights reserved ...
... pyridoxal phosphate (Fig. 3). Perhaps the crystallized conformation depicts the state of NifS/IscS passing the activated sulfur to a downstream acceptor. 2006 Federation of European Microbiological Societies Published by Blackwell Publishing Ltd. All rights reserved ...
DNA Methylation Analysis
... differential methylation patterns. To ensure the most important loci were represented, Illumina designed markers to cover nearly 1,000 cancer-related genes described in published literature. Of all genes represented on the HumanMethylation27 BeadChip, more than 12,700 are also present on the HumanRe ...
... differential methylation patterns. To ensure the most important loci were represented, Illumina designed markers to cover nearly 1,000 cancer-related genes described in published literature. Of all genes represented on the HumanMethylation27 BeadChip, more than 12,700 are also present on the HumanRe ...
Apical-basal pattern formation in the Arabidopsis
... asymmetric division of the zygote, we have performed a detailed genetic and phenotypic analysis of the gnom gene to determine its role in apical-basal pattern formation. Our results suggest that the gnom gene very likely acts before the asymmetric division of the zygote when apical-basal polarity fi ...
... asymmetric division of the zygote, we have performed a detailed genetic and phenotypic analysis of the gnom gene to determine its role in apical-basal pattern formation. Our results suggest that the gnom gene very likely acts before the asymmetric division of the zygote when apical-basal polarity fi ...
Purification and Characterization of
... holoenzyme structure and function, and thus may represent an alternative evolutionary pathway in Calvin-cycle kinase development. ...
... holoenzyme structure and function, and thus may represent an alternative evolutionary pathway in Calvin-cycle kinase development. ...
AN ATTEMPT TO PRODUCE RECOMBINANT HORSE INSULIN D
... recombinant DNA technology in our country. As a result of the present study, a model technology for production of recombinant equine insulin was initially being developed in order to use this example for further studies on production of various protein hormones important in veterinary medical practi ...
... recombinant DNA technology in our country. As a result of the present study, a model technology for production of recombinant equine insulin was initially being developed in order to use this example for further studies on production of various protein hormones important in veterinary medical practi ...
Wolbachia John H. Werren and Jeremy D. Bartos
... than to Ng/Nl (16 base pair differences), whereas the 3⬘ region is more closely related to Ng/Nl (2 base pair differences) than to Nv (36 base pair differences). A number of other methods for inferring phylogeny were also used to evaluate the sequence relationships. These methods include different n ...
... than to Ng/Nl (16 base pair differences), whereas the 3⬘ region is more closely related to Ng/Nl (2 base pair differences) than to Nv (36 base pair differences). A number of other methods for inferring phylogeny were also used to evaluate the sequence relationships. These methods include different n ...
VAAM-Jahrestagung 2015 1.–4. März in Marburg/Lahn
... outbreak in Africa reminds us how vulnerable mankind is against infectious diseases that jump from animal reservoirs to humans. The Institute for Virology of the Philipps-University under the successive leadership of Hans-Dieter Klenk and Stephan Becker has been at the forefront of research on the b ...
... outbreak in Africa reminds us how vulnerable mankind is against infectious diseases that jump from animal reservoirs to humans. The Institute for Virology of the Philipps-University under the successive leadership of Hans-Dieter Klenk and Stephan Becker has been at the forefront of research on the b ...
Amino Acid Disorders - NewbornScreening.info
... Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing o ...
... Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing o ...
Engineering Acetyl Coenzyme A Supply: Functional Expression of a
... of lipoic acid. To determine if PDH can replace the native cytosolic route to acetyl-CoA, the native route must be blocked (e.g., by deletion of ACS genes) and the subunits of PDH must be expressed such that they will not be targeted to the mitochondrion (as is the case for the native PDH complex). ...
... of lipoic acid. To determine if PDH can replace the native cytosolic route to acetyl-CoA, the native route must be blocked (e.g., by deletion of ACS genes) and the subunits of PDH must be expressed such that they will not be targeted to the mitochondrion (as is the case for the native PDH complex). ...
Yeast lipid metabolism at a glance
... steryl esters (SE) stored in LD. FA can also function as transcriptional regulators and signaling molecules and can be involved in post-translational modification of proteins. Free fatty acids (FFA) are carboxylic acids with hydrocarbon tails varying in chain length and degree of (un)saturation. The ...
... steryl esters (SE) stored in LD. FA can also function as transcriptional regulators and signaling molecules and can be involved in post-translational modification of proteins. Free fatty acids (FFA) are carboxylic acids with hydrocarbon tails varying in chain length and degree of (un)saturation. The ...
No Slide Title
... The world-wide incidence rate of HFI remains unknown due to the difficulty of HFI diagnosis. The first report of an incidence rate was from Switzerland, where over a five year period that included 100,000 births, five cases of HFI were reported. – the degree of deviation in this estimate of 1 in 20, ...
... The world-wide incidence rate of HFI remains unknown due to the difficulty of HFI diagnosis. The first report of an incidence rate was from Switzerland, where over a five year period that included 100,000 births, five cases of HFI were reported. – the degree of deviation in this estimate of 1 in 20, ...
An Illustrated Introduction to the Basic Biological
... An Illustrated Introduction to the Basic Biological Principles ...
... An Illustrated Introduction to the Basic Biological Principles ...
Dysfunction of Wild-Type Huntingtin in Huntington
... factors (2). Various authors demonstrated that transcription factors such as CBP [cAMP-response element binding protein (CREB) binding protein], TATA binding protein, and Sin3A can be recruited into the intranuclear aggregates, thus reinforcing the hypothesis of a role for transcriptional dysregulat ...
... factors (2). Various authors demonstrated that transcription factors such as CBP [cAMP-response element binding protein (CREB) binding protein], TATA binding protein, and Sin3A can be recruited into the intranuclear aggregates, thus reinforcing the hypothesis of a role for transcriptional dysregulat ...
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.