The new cardiac genetic testing panels
... called a ‘gene dossier’ for evaluation by the Genetic Test Evaluation Working Group (GTEWG). The membership of this group includes professionals from Clinical Genetics, clinical laboratory genetics, Public Health, commissioning and patient groups. The gene dossier provides a standardised format for ...
... called a ‘gene dossier’ for evaluation by the Genetic Test Evaluation Working Group (GTEWG). The membership of this group includes professionals from Clinical Genetics, clinical laboratory genetics, Public Health, commissioning and patient groups. The gene dossier provides a standardised format for ...
Folate Metabolism and MTHFR
... Gene: inheritable material (DNA) from parents which has encoded data that must be read and translated. Produces proteins and enzymes. Enzymes: produced by genes. Enzymes are actively moving and functioning proteins which do work. Enzymes require specific pH, substrates and cofactors in order to do w ...
... Gene: inheritable material (DNA) from parents which has encoded data that must be read and translated. Produces proteins and enzymes. Enzymes: produced by genes. Enzymes are actively moving and functioning proteins which do work. Enzymes require specific pH, substrates and cofactors in order to do w ...
Gene methylation in gastric cancer
... Gastric cancer is highly prevalent in Asia, particularly China, and is one of the leading causes of cancer-related death worldwide [1]. There are two main types of gastric adenocarcinoma: intestinal and diffuse. The accepted paradigm for the pathogenesis of the intestinal-type is a multistep progres ...
... Gastric cancer is highly prevalent in Asia, particularly China, and is one of the leading causes of cancer-related death worldwide [1]. There are two main types of gastric adenocarcinoma: intestinal and diffuse. The accepted paradigm for the pathogenesis of the intestinal-type is a multistep progres ...
hermann joseph muller 1890—1967
... States or Germany. Muller himself was an atheist and later in life chose the American Humanist Association as an outlet for his religious feelings, serving as president of that organization in 1957. On his uncle’s side Muller’s penchant for academic life was shared by his first cousin Herbert J. Mul ...
... States or Germany. Muller himself was an atheist and later in life chose the American Humanist Association as an outlet for his religious feelings, serving as president of that organization in 1957. On his uncle’s side Muller’s penchant for academic life was shared by his first cousin Herbert J. Mul ...
Muscle alanine synthesis and hepatic gluconeogenesis
... of the amino acid nitrogen towards alanine formation would serve to prevent excessive generation of potentially toxic ammonia by the purine nucleotide cycle. The precise roles of amino acid breakdown and ammonia generation in muscle are not clear, but it may be that one function of ammonia formation ...
... of the amino acid nitrogen towards alanine formation would serve to prevent excessive generation of potentially toxic ammonia by the purine nucleotide cycle. The precise roles of amino acid breakdown and ammonia generation in muscle are not clear, but it may be that one function of ammonia formation ...
Seed Germination of GA-Insensitive sleepy1
... slowly, with stronger alleles requiring more time. We expected that if RGL2 negatively controls seed germination, sly1 mutant seeds that germinate well should accumulate lower RGL2 levels than those failing to germinate. Surprisingly, RGL2 accumulated at high levels even in after-ripened sly1 mutant ...
... slowly, with stronger alleles requiring more time. We expected that if RGL2 negatively controls seed germination, sly1 mutant seeds that germinate well should accumulate lower RGL2 levels than those failing to germinate. Surprisingly, RGL2 accumulated at high levels even in after-ripened sly1 mutant ...
Retrotransposon-Mediated Fgf5go-Utr Mutant Mice
... moja mice; all offspring had long pelage hair. Furthermore, we performed a reciprocal cross between moja mice and wild-type ICR mice with normal hair. All offspring exhibited normal hair suggesting an autosomal recessive inheritance of the trait. The moja/moja hair phenotype was maintained in skin g ...
... moja mice; all offspring had long pelage hair. Furthermore, we performed a reciprocal cross between moja mice and wild-type ICR mice with normal hair. All offspring exhibited normal hair suggesting an autosomal recessive inheritance of the trait. The moja/moja hair phenotype was maintained in skin g ...
Oliver, B., Kim, Y.-J., and Baker, B. S.
... alternative pre-mRNA processing as it is in the soma. A finding that Sxl+ produces sex-specific transcripts within the germ line enables us to use these sex-specific transcripts as a phenotype to determine the likely sexual identity of germ cells and to order the functioning of other genes involved ...
... alternative pre-mRNA processing as it is in the soma. A finding that Sxl+ produces sex-specific transcripts within the germ line enables us to use these sex-specific transcripts as a phenotype to determine the likely sexual identity of germ cells and to order the functioning of other genes involved ...
Correlation between the respiration-driven Na+ pump
... halophiles examined are resistant to hypotonic lysis, do not have any respiration-driven Na+ pump, and exhibit no requirement for Na+ for AIB uptake. Since these Gram-positive halophiles have none of the properties characteristic of marine bacteria, they are unlikely to originate from marine environ ...
... halophiles examined are resistant to hypotonic lysis, do not have any respiration-driven Na+ pump, and exhibit no requirement for Na+ for AIB uptake. Since these Gram-positive halophiles have none of the properties characteristic of marine bacteria, they are unlikely to originate from marine environ ...
International Agency for Research on Cancer (IARC)
... (1200 ppm [2160 mg/m3]) of ethylene oxide by inhalation induced teratogenic effects in mice. The effect was shown to be due to a direct action on the zygote. Ethylene oxide forms adducts with proteins in both man and experimental animals and with DNA in experimental animals. Haemoglobin adducts hav ...
... (1200 ppm [2160 mg/m3]) of ethylene oxide by inhalation induced teratogenic effects in mice. The effect was shown to be due to a direct action on the zygote. Ethylene oxide forms adducts with proteins in both man and experimental animals and with DNA in experimental animals. Haemoglobin adducts hav ...
Cells: building blocks of living organisms
... In the case of DNA, bases interact, i.e. form hydrogen bonds, primarily through the following set of rules: A interacts with T (and vice versa) G interacts with C (and vice versa) Those rules are the consequence of the fact that A:T and G:C pairs position the backbone atoms roughly at the same three ...
... In the case of DNA, bases interact, i.e. form hydrogen bonds, primarily through the following set of rules: A interacts with T (and vice versa) G interacts with C (and vice versa) Those rules are the consequence of the fact that A:T and G:C pairs position the backbone atoms roughly at the same three ...
Angiotensin I-converting enzyme-inhibitory peptide fractions
... 1.4 29 cm, id Sephadex G-200 column (Pharmacia, Uppsala, Sweden). The column was previously equilibrated with buffer A. Onemillilitre fractions, 0.4 ml/min flow rate, were collected at room temperature and read at 280 nm. A low range molecular weight marker (Sigma–Aldrich, St. Louis, Mo., USA) was ...
... 1.4 29 cm, id Sephadex G-200 column (Pharmacia, Uppsala, Sweden). The column was previously equilibrated with buffer A. Onemillilitre fractions, 0.4 ml/min flow rate, were collected at room temperature and read at 280 nm. A low range molecular weight marker (Sigma–Aldrich, St. Louis, Mo., USA) was ...
Disruption and aberrant expression of HMGA2 as a
... human mesenchymal tumors, resulting in fusion to diverse partner genes. In lipomas, HMGA2 has been shown to fuse to LPP at 3q27–q28, a gene encoding an LIM domain-containing protein;8,15 to LHFP at 13q12, the function of which is still unknown;16 to the G-protein-coupled receptor RDC1 at 2q35– 3717 ...
... human mesenchymal tumors, resulting in fusion to diverse partner genes. In lipomas, HMGA2 has been shown to fuse to LPP at 3q27–q28, a gene encoding an LIM domain-containing protein;8,15 to LHFP at 13q12, the function of which is still unknown;16 to the G-protein-coupled receptor RDC1 at 2q35– 3717 ...
... The present invention relates to nucleic acid molecules related to the var2csa gene family as well as amino acid sequences encoded by such nucleic acid molecules with respect to their role in mediating adhesion of infected red blood cells to chondroitin sulphate A (CSA) in the placenta which is char ...
Lab Handbook 1_5 - Central Manchester University Hospitals
... disorders. Mucopolysaccharidoses are initially screened by urinary MPS electrophoresis. Some disorders require specific tests not covered in the screen. These disorders include Pompe, Niemann-Pick type C and sialidosis. Where the enzyme and MPS screens are negative but there is evidence of an underl ...
... disorders. Mucopolysaccharidoses are initially screened by urinary MPS electrophoresis. Some disorders require specific tests not covered in the screen. These disorders include Pompe, Niemann-Pick type C and sialidosis. Where the enzyme and MPS screens are negative but there is evidence of an underl ...
A Physical Gene Map of the Bacteriophage P22 Late
... was initially oriented with the recombination frequency map by use of early region substitutions or deletions which were genetically defined and could be related to the cleavage site map (Jackson et CL, 19’78b). Subsequently, Tnl insertions located in late region genes 20, 16, ant, and 9 were assign ...
... was initially oriented with the recombination frequency map by use of early region substitutions or deletions which were genetically defined and could be related to the cleavage site map (Jackson et CL, 19’78b). Subsequently, Tnl insertions located in late region genes 20, 16, ant, and 9 were assign ...
Cormack et al, 1991 Cell
... differences map to region Cl because the strain containing molecule 11 shows modest growth. Strain 12, however, grows almost as well as strain 2, which contains the wild-type TFIID, suggesting that the most important differences map to region C2. These results are in complete accord with those obtai ...
... differences map to region Cl because the strain containing molecule 11 shows modest growth. Strain 12, however, grows almost as well as strain 2, which contains the wild-type TFIID, suggesting that the most important differences map to region C2. These results are in complete accord with those obtai ...
University of Groningen Lactococcus lactis systems biology Eckhardt
... genomes. An important achievement in the field of genomics is the discovery of DNA as the carrier of genetic information and the decryption of its structure and code 40. Decoding, correctly assembling and annotating the entire genomic code of organisms is another important aspect of genomics. The fi ...
... genomes. An important achievement in the field of genomics is the discovery of DNA as the carrier of genetic information and the decryption of its structure and code 40. Decoding, correctly assembling and annotating the entire genomic code of organisms is another important aspect of genomics. The fi ...
Journal of Bacteriology
... transcriptional level. Growth of PCL1445 at low temperature resulted in an increased level of putisolvins, and mutant analyses showed that this requires dnaK and dnaJ but not grpE. In addition, putisolvin biosynthesis of PCL1445 was found to be dependent on the GacA/GacS two-component signaling syst ...
... transcriptional level. Growth of PCL1445 at low temperature resulted in an increased level of putisolvins, and mutant analyses showed that this requires dnaK and dnaJ but not grpE. In addition, putisolvin biosynthesis of PCL1445 was found to be dependent on the GacA/GacS two-component signaling syst ...
Substrate specificity of the periplasmic dipeptide
... progressively enhanced by alkylation (with methyl to butyl) of the N-terminal α-amino group. Thus, results from this approach provide an essential experimental basis, which complements the information from the crystal structure of DppA, for the design of peptidomimetic antibacterials targeted for tr ...
... progressively enhanced by alkylation (with methyl to butyl) of the N-terminal α-amino group. Thus, results from this approach provide an essential experimental basis, which complements the information from the crystal structure of DppA, for the design of peptidomimetic antibacterials targeted for tr ...
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.