
recurrent episodes of acute pancreatitis in a cystic fibrosis carrier
... pathophysiology of the condition is related to obstruction of small biliary calculi and it is likely that modifier genes in addition to CFTR dysfunction play an important part in this process. Screening for liver disease is taken in most CF centres with annual assessment of liver transaminases, gamm ...
... pathophysiology of the condition is related to obstruction of small biliary calculi and it is likely that modifier genes in addition to CFTR dysfunction play an important part in this process. Screening for liver disease is taken in most CF centres with annual assessment of liver transaminases, gamm ...
Ascorbate peroxidaserelated (APxR) is a new
... In a previous phylogenetic study of APx genes (Teixeira et al., 2004), an additional group of sequences closely related to APx was found in rice and in other plants. Here, we show that this additional group of genes belongs to a new family of heme peroxidases (ascorbate peroxidaserelated (APx-R)), w ...
... In a previous phylogenetic study of APx genes (Teixeira et al., 2004), an additional group of sequences closely related to APx was found in rice and in other plants. Here, we show that this additional group of genes belongs to a new family of heme peroxidases (ascorbate peroxidaserelated (APx-R)), w ...
Positive Natural Selection in the Human Lineage REVIEW
... nature of each signature, an estimate of the win- for the large number of genes tested. However, sweeps are detected in genetic variation withdow of evolutionary time in which it can be used the signature can readily be used to detect in a species. The most common type of variant to detect moderatel ...
... nature of each signature, an estimate of the win- for the large number of genes tested. However, sweeps are detected in genetic variation withdow of evolutionary time in which it can be used the signature can readily be used to detect in a species. The most common type of variant to detect moderatel ...
Lessons from Phenylketonuria. Trends Genet 15:267
... these effects and for errors in metabolic phenotype classification27, inconsistencies remain. Complexity at the metabolic level might be an explanation, when certain mutations, each associated with moderate levels of residual enzyme activity in vitro, are associated, in different individuals, with d ...
... these effects and for errors in metabolic phenotype classification27, inconsistencies remain. Complexity at the metabolic level might be an explanation, when certain mutations, each associated with moderate levels of residual enzyme activity in vitro, are associated, in different individuals, with d ...
Document
... results showed an unequivocal signal and were compatible with a common, relatively young causative mutation for a monogenic trait. We also performed a mixed-model analysis controlling for the population stratification, which showed the most significant association at the same marker as before (Pc1df ...
... results showed an unequivocal signal and were compatible with a common, relatively young causative mutation for a monogenic trait. We also performed a mixed-model analysis controlling for the population stratification, which showed the most significant association at the same marker as before (Pc1df ...
EVIDENCE FOR TWO DISTINCT CLASSES OF STREPTOCOCCAL
... Correlations can be made between particular M serotypes and other physicochemical properties of group A streptococci. M-associated protein (MAP) was identified in the 1970s as a surface component of M protein-bearing organisms that co-purifies with the type-specific substance (10, 13, 14) . Isolates ...
... Correlations can be made between particular M serotypes and other physicochemical properties of group A streptococci. M-associated protein (MAP) was identified in the 1970s as a surface component of M protein-bearing organisms that co-purifies with the type-specific substance (10, 13, 14) . Isolates ...
The Structure and Function of the DNA from Bacteriophage Lambda
... metric units is 13.2 microns. Under these conditions, normal lambda DNA exhibits a distribution centering at 14.5 to 15 microns (4). The above population of lambda dg wholes represents 58 closed molecules. Six additional closed molecules were observed, but these had lengths between 24.5 and 28 micro ...
... metric units is 13.2 microns. Under these conditions, normal lambda DNA exhibits a distribution centering at 14.5 to 15 microns (4). The above population of lambda dg wholes represents 58 closed molecules. Six additional closed molecules were observed, but these had lengths between 24.5 and 28 micro ...
Hodgkin 1980
... lsolation of her mutants: A strain (CB2300) was constructed, of genotype him-51ei490) dpy21(e428) V ; unc-7(e5) X . The unc-7 marker was included to prevent crossing between males and hermaphrodites, which is otherwise likely to reduce homozygosis and prevent expression of recessive mutations. This ...
... lsolation of her mutants: A strain (CB2300) was constructed, of genotype him-51ei490) dpy21(e428) V ; unc-7(e5) X . The unc-7 marker was included to prevent crossing between males and hermaphrodites, which is otherwise likely to reduce homozygosis and prevent expression of recessive mutations. This ...
Cancer Knudson`s —two-hit“ hypothesis
... “A study of 139 women with deleterious BRCA1 or BRCA2 mutations who were followed at the Rotterdam Family Cancer Clinic. To reduce their risk of breast cancer, 76 of these women chose to undergo prophylactic bilateral mastectomy, whereas the remaining 63 were followed according to a surveillance pro ...
... “A study of 139 women with deleterious BRCA1 or BRCA2 mutations who were followed at the Rotterdam Family Cancer Clinic. To reduce their risk of breast cancer, 76 of these women chose to undergo prophylactic bilateral mastectomy, whereas the remaining 63 were followed according to a surveillance pro ...
Four types of controls were performed to support these
... when compared with the wild-type strain. The hybrid plasmids carrying each ...
... when compared with the wild-type strain. The hybrid plasmids carrying each ...
Communique of GTTAC Meeting 18 September 2003 and 28
... effective weed control in cotton crops by allowing the crop to be sprayed with glufosinate ammonium to kill problem weeds without damaging the crop itself. None of the cotton plants from the release, or their by-products, would be used for animal feed or human food. However, the applicant is proposi ...
... effective weed control in cotton crops by allowing the crop to be sprayed with glufosinate ammonium to kill problem weeds without damaging the crop itself. None of the cotton plants from the release, or their by-products, would be used for animal feed or human food. However, the applicant is proposi ...
Edvotek 222
... GFP possesses the ability to absorb blue light and emit green light in response, while BFP absorbs violet light and emit blue light in response. This activity, known as fluorescence, does not require any additional special substrates, gene products or cofactors to produce visible light. ...
... GFP possesses the ability to absorb blue light and emit green light in response, while BFP absorbs violet light and emit blue light in response. This activity, known as fluorescence, does not require any additional special substrates, gene products or cofactors to produce visible light. ...
Inhibition by D-Glutamate of Growth and Glutamate
... to the medium before sterilization ; sucrose and L-glutamine were sterilized separately (the last by filtration) and added aseptically to the sterile medium. Strains. Most of the work was done with strain no. I from the collection of the Bacteriology Department which was sensitive to D-gh. Some expe ...
... to the medium before sterilization ; sucrose and L-glutamine were sterilized separately (the last by filtration) and added aseptically to the sterile medium. Strains. Most of the work was done with strain no. I from the collection of the Bacteriology Department which was sensitive to D-gh. Some expe ...
Communique of GTTAC Meeting 18 September 2003 and 28
... effective weed control in cotton crops by allowing the crop to be sprayed with glufosinate ammonium to kill problem weeds without damaging the crop itself. None of the cotton plants from the release, or their by-products, would be used for animal feed or human food. However, the applicant is proposi ...
... effective weed control in cotton crops by allowing the crop to be sprayed with glufosinate ammonium to kill problem weeds without damaging the crop itself. None of the cotton plants from the release, or their by-products, would be used for animal feed or human food. However, the applicant is proposi ...
W AA
... – Gene exists in 2 alleles so n=2 so DofF = 1 – See chart – p > 0.05 – Do not reject the Null hypothesis • Genes appear to be in HW equilibrium ...
... – Gene exists in 2 alleles so n=2 so DofF = 1 – See chart – p > 0.05 – Do not reject the Null hypothesis • Genes appear to be in HW equilibrium ...
lecture4
... acids mobilized from triacylglycerols are oxidized to meet the energy needs of a cell or organism. Fourth, fatty acid derivatives serve as hormones and intracellular messengers. In this chapter, we will focus on the oxidation and synthesis of fatty acids, processes that are reciprocally regulated in ...
... acids mobilized from triacylglycerols are oxidized to meet the energy needs of a cell or organism. Fourth, fatty acid derivatives serve as hormones and intracellular messengers. In this chapter, we will focus on the oxidation and synthesis of fatty acids, processes that are reciprocally regulated in ...
Editorial Comment Will Gene Markers Predict Hypertension?
... be detectable and useful for genetic linkage. For "statistically useful linkage" (5% recombination), there should be as many as 10,000 DNA polymorphisms available. The possibility of finding half a dozen DNA markers close enough to a disease gene to provide a high probability for detection of geneti ...
... be detectable and useful for genetic linkage. For "statistically useful linkage" (5% recombination), there should be as many as 10,000 DNA polymorphisms available. The possibility of finding half a dozen DNA markers close enough to a disease gene to provide a high probability for detection of geneti ...
Identification and expression of the first nonmammalian amyloid‐β
... mRNA have been described [3,21]. During APLP2 gene transcription, exon 7 (encoding the 56 amino acid KPI domain also alternatively spliced in APP) and exon 14 (encoding a 12 amino acid domain involved in the attachment of a chondroitin sulfate glycosaminoglycan side chain) are alternatively spliced ...
... mRNA have been described [3,21]. During APLP2 gene transcription, exon 7 (encoding the 56 amino acid KPI domain also alternatively spliced in APP) and exon 14 (encoding a 12 amino acid domain involved in the attachment of a chondroitin sulfate glycosaminoglycan side chain) are alternatively spliced ...
Amino acid and codon usage profiles: Adaptive changes in the
... In the work presented, the changes in codon and amino acid contents have been studied as a function of environmental conditions by comparing pairs of homologs in a group of extremophilic/non-extremophilic genomes. Our results obtained based on such analysis highlights a number of notable observation ...
... In the work presented, the changes in codon and amino acid contents have been studied as a function of environmental conditions by comparing pairs of homologs in a group of extremophilic/non-extremophilic genomes. Our results obtained based on such analysis highlights a number of notable observation ...
22 August 2002
... the two amino-acid substitutions specific to humans in exon 7. Individuals with disruption of FOXP2 have multiple difficulties with both expressive and receptive aspects of language and grammar, and the nature of the core deficit remains a matter of debate18-20. Nevertheless, a predominant feature o ...
... the two amino-acid substitutions specific to humans in exon 7. Individuals with disruption of FOXP2 have multiple difficulties with both expressive and receptive aspects of language and grammar, and the nature of the core deficit remains a matter of debate18-20. Nevertheless, a predominant feature o ...
SCit: web tools for protein side chain
... place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. ª 2004, the authors ...
... place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. ª 2004, the authors ...
Evolutionary divergence and functions of the ADAM and ADAMTS
... precursor proteins at paired basic amino acid processing sites; the cleavage event produces the mature/active protein. Mutation studies with the ADAM10 gene found that altering the furin-recognition motif results in an inactive enzyme.2 The PD is processed and removed within the trans-Golgi network, ...
... precursor proteins at paired basic amino acid processing sites; the cleavage event produces the mature/active protein. Mutation studies with the ADAM10 gene found that altering the furin-recognition motif results in an inactive enzyme.2 The PD is processed and removed within the trans-Golgi network, ...
Kein Folientitel
... varieties; (b) essentially biological processes for the production of plants or animals. 2. Inventions which concern plants or animals shall be patentable if the technical feasibility of the invention is not confined to a particular plant or animal variety. 3. Paragraph 1(b) shall be without prejudi ...
... varieties; (b) essentially biological processes for the production of plants or animals. 2. Inventions which concern plants or animals shall be patentable if the technical feasibility of the invention is not confined to a particular plant or animal variety. 3. Paragraph 1(b) shall be without prejudi ...
Regulation of protein synthesis by insulin
... of eIF2B. Since eIF2B is required for recycling of eIF2, a factor required for all cytoplasmic translation initiation events, this will contribute to overall activation of protein synthesis. PKB also phosphorylates the TSC1 (tuberous sclerosis complex 1)–TSC2 complex to relieve its inhibitory action ...
... of eIF2B. Since eIF2B is required for recycling of eIF2, a factor required for all cytoplasmic translation initiation events, this will contribute to overall activation of protein synthesis. PKB also phosphorylates the TSC1 (tuberous sclerosis complex 1)–TSC2 complex to relieve its inhibitory action ...
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.