Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “coding change”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 973 records · Page 54Linked to original sources
PubMed1996

The IPEMB code of practice for the determination of absorbed dose for x-rays below 300 kV generating potential (0.035 mm Al-4 mm Cu HVL; 10-300 kV generating potential). Institution of Physics and Engineering in Medicine and Biology.

This new code of practice for the determination of absorbed dose for x-rays below 300 kV has recently been approved by the IPEMB and introduces the following changes to the previous codes: (i) The determination of absorbed dose is based on the air kerma determination (exposure measurement) method. (ii) An air kerma calibration factor for the ionization chamber is used. (iii) The use of the F (rad/röentgen) conversion factor is abandoned and replaced by the ratio of the mass-energy absorption coefficients of water and air for converting absorbed dose to air to absorbed dose to water. New values for ratios of these coefficients are recommended. Perturbation and other correction factors are incorporated in the equations. (iv) New backscatter factors are recommended. (v) Three separate energy ranges are defined, with specific procedures for each range. These ranges are: (a) 0.5 to 4 mm Cu HVL; for this range calibration at 2 cm depth in water with a thimble ion chamber is recommended. (b) 1.0 to 8.0 mm AI HVL; for this range calibration in air with a cylindrical ion chamber and the use of tabulated values of the backscatter factor are recommended. (c) 0.035 to 1.0 mm AI HVL; for this range calibration on the surface of a phantom with a parallel-plate ionization chamber is recommended.

Humans↗
PubMedDate not supplied

Mutational alteration of the p16CDKN2a tumor suppressor gene is infrequent in Ewing's sarcoma.

Mutational alteration of the p16CDKN2a tumor suppressor gene has been frequently observed in a variety of human cell lines and tumor tissues. To assess whether alterations of the p16CDKN2a gene play an important role in the pathogenesis of Ewing's sarcoma, we examined the allelic deletion and point mutation of the gene in 27 primary tumors. In quantitative DNA/PCR analysis for three individual exons of the gene, none of the 27 specimens showed detectable reduction in the amplification levels compared to those of normal lymphocytes. To explore the presence of any subtle sequence changes within the protein coding region, we performed a comprehensive screening of sequence alteration in the three exons using DNA/PCR-SSCP analysis. However, no abnormal shift of SSCP bands indicative of sequence change was identified. In addition, no elevation of p16CDKN2a mRNA expression was observed in the RD-ES cell line following 5'-Aza-cytidine treatment, indicating that the promoter of the gene is not abnormally methylated in this cell line. Immunohistochemical study of the same tissue specimens for p16CDKN2a and pRB also revealed grade 2+ or 3+ nuclear staining of both proteins in most of the specimens we examined. Taken together, our results strongly suggest that the mutational inactivation of the p16CDKN2a gene might be a rare event, and thus not play a critical role in the pathogenesis of Ewing's sarcoma.

Bone Neoplasms↗
PubMed2005

siRNA-mediated transcriptional gene silencing: the potential mechanism and a possible role in the histone code.

Epigenetics is the study of meiotically and mitotically heritable changes in gene expression which are not coded for in the DNA. Three distinct mechanisms appear intricately related in initiating and sustaining epigenetic modifications: RNA-associated silencing, DNA methylation and histone modification. Recently, in human cells small-interfering RNAs (siRNAs) have been shown to mediate transcriptional gene silencing (TGS). The observation that siRNAs can function to suppress gene expression at the level of transcription has created a major paradigm shift in mammalian RNA interference. The putative mechanism(s) of siRNA-mediated TGS in both yeast and human cells will be discussed. Undoubtedly, the ramifications from this paradigm shift in which RNA has demonstrated a potent and specific capability to regulate the expression of the gene are immeasurable both therapeutically (i. e. directed control of gene expression) and biologically in understanding the evolution of the cell.

Animals↗
PubMed1999

Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis.

Recently, we established keratin 10-deficient mice, serving as a model for the hyperkeratotic skin disorder epidermolytic hyperkeratosis. The considerable ichthyosis in these mice suggested alterations in terminal differentiation and in the formation of a functional epidermal barrier. Here, we report on the ultrastructural organization and composition of the stratum corneum lipids and on the expression of two major cornified envelope proteins. Electron microscopy of ruthenium tetroxide postfixed skin samples demonstrated a normal extrusion and morphology of lamellar bodies as well as the formation of bona fide lamellar layers in neonatal keratin 10-deficient mice. When we studied the composition of the major stratum corneum lipids, however, we found significant changes. Most importantly, the analysis of ceramide subpopulations revealed that the total amount of ceramide 2 was elevated in keratin 10-deficient mice, whereas ceramides 1, 3, 4, and 5 were decreased among total stratum corneum lipids. The amount of the ceramide precursors sphingomyelin and glucosylceramide was reduced in the stratum corneum without accompanying changes in the mRNA coding for acid sphingomyelinase. Notably, we found an increased mRNA and protein content for involucrin in neonatal keratin 10-deficient mice, whereas the expression of loricrin was not changed. Our data demonstrate that, although the formation of lipid layers in the stratum corneum appeared to be normal, its lipid composition is significantly altered in keratin 10-deficient mice.

Animals↗
PubMed1977

Adaptive response due to changes in gene regulation: a study with Drosophila.

In spite of the critical role of the process of adaptation in evolution, there are few detailed studies of the genotypic and molecular basis of the process. Drosophila melanogaster flies selected for increased tolerance to ethanol exhibited higher levels of alcohol dehydrogenase (alcohol:NAD+ oxidoreductase; EC 1.1.1.1) activity than unselected controls. A series of tests (electrophoresis, product inhibition, temperature stability, pH optima, substrate specificity, and Michaelis constants) gave no evidence of structural differences in the enzyme of the selected and the control flies. However, quantitative immunological assays showed that the selected flies contained significantly higher amounts of alcohol dehydrogenase. Adaptation of the selected flies to higher alcohol tolerance has most likely taken place by changes not in the structural gene locus coding for the enzyme, but by regulatory changes affecting the amount of gene product.

Adaptation, Biological↗
PubMed1989

The two Xenopus laevis SRC genes are co-expressed and each produces functional pp60src.

The haploid genome of Xenopus laevis contains two src genes, and transcripts from both genes are found in the maternal RNA pool of the oocyte (Steele, R. E. (1985) Nucleic Acids Res. 13, 1747-1761). We have now isolated cDNA clones which contain complete coding sequences from both src mRNAs. In vitro translation of RNAs transcribed in vitro from these clones produces in each case a protein with an apparent molecular mass of 57 kDa. The in vitro-synthesized proteins show identical protease cleavage patterns. Sequence analysis of the coding regions of the two cDNAs revealed that they both produce 532-amino acid polypeptides which differ from each other at only eight sites. Analysis of silent site changes between the two coding sequences suggests that the two genes began diverging about 25 million years ago. Hybridization with probes specific for each of the two src RNAs indicates that the two genes are co-expressed in embryos and in at least some adult tissues as well as during oogenesis. Finally, expression of each of the cDNA clones in yeast causes the appearance of proteins which are recognized by an antibody which binds to phosphotryosine.

Amino Acid Sequence↗
PubMed1995

[Changes in biogenesis and secretion of periplasmic alkaline phosphatase, coded by the phoA gene included in the Escherichia coli DH1 plasmid].

Augmented synthesis of periplasmic alkaline phosphatase from E. coli DH1 coded by the phoA gene within the composition of plasmid pHI-7 results in alterations in the enzyme biogenesis, such as accumulation of intermediate enzyme forms corresponding to various stages of its posttranslational modification, and alternative localization. The cell cytoplasm was found to contain a large proportion of alkaline phosphatase precursors in the form of insoluble aggregates. The mature enzyme was detected in both the periplasm and the cultural fluid in the form three methazymes with an increased (as compared with the original strain) content of methazymes I and II. The cell envelope of E. coli DHI transformed by plasmid pHI-7 with the phoA gene differed from that of the original strain by an increased acid phospholipid (cardiolipin/phosphatidylglycerol) ratio as well as by increased distribution density of intramembrane particles on the surface of the cytoplasmic membrane facing the cytoplasm. Changes in the biogenesis of the enzyme during its augmented synthesis are due to disturbances in the equilibrium between the synthesis of polypeptide chains, on the one hand, and their translocation and processing, on the other, apparently as a result of restricted secretion sites and lack of inhibition of translation of secreted proteins in bacteria.

Alkaline Phosphatase↗
PubMed1985

Immunochemistry of variants of influenza virus hemagglutinin and neuraminidase.

Influenza is impossible to control by vaccination because of variation in the two surface antigens of the virus, the hemagglutinin (HA) and neuraminidase (NA). This variation is caused by sequence changes in the genes coding these antigens and this article summarizes recent information on the structure of the HA and NA, the way in which these glycoproteins vary and the effects of the changes on the antigenic properties of the virus.

Amino Acid Sequence↗
PubMed1987

Genomic and cDNA actin sequences from a virulent strain of Entamoeba histolytica.

Invasiveness of Entamoeba histolytica strains that cause acute amoebiasis is characterized by aggressive behavior associated with cell motility and actin function. Analysis of actin genes from E. histolytica was initiated by devising methods for the isolation of biologically active nucleic acids, which allowed the preparation of cDNA and genomic DNA libraries. E. histolytica actin-encoding cDNAs and genomic clones have been isolated from libraries prepared from the virulent HM1:IMSS strain using a heterologous actin probe. Nucleotide sequence analysis of three independent cDNA clones and one genomic clone reveals a highly unusual codon bias and the absence of intervening sequences in E. histolytica actin. The coding sequence of the genomic clone is identical to that of two of the three cDNA clones. These represent at least two distinct mRNAs differing only by five silent changes in the protein coding sequence. Multiple genomic copies of the actin gene can be detected by Southern hybridization. E. histolytica actin exhibits a higher degree of homology to cytoplasmic than to muscle actin. Although the protein has been shown not to bind DNase I, the inferred amino acid sequence indicates conservation of all residues implied to participate in this binding.

Actins↗
PubMed1984

Antigenic variation and the structure of influenza virus glycoproteins.

Influenza is impossible to control by vaccination because of variation in the two surface antigens of the virus, the haemagglutinin (HA) and neuraminidase (NA). This variation is caused by sequence changes in the genes coding these antigens and this review summarizes recent information on the structure of the HA and NA, the way in which these glycoproteins vary and the effects of the changes on the antigenic properties of the virus.

Amino Acid Sequence↗
PubMed2003

Spinal cord injuries in Australian footballers.

BACKGROUND: Acute spinal cord injury is a serious concern in football, particularly the rugby codes. This Australia-wide study covers the years 1986-1996 and data are compared with those from a previous identical study for 1960-1985. METHODS: A retrospective review of 80 players with a documented acute spinal cord injury admitted to the six spinal cord injury units in Australia. Personal interview was carried out in 85% of the participants to determine the injury circumstances and the level of compensation. The severity of the neurological deficit and the functional recovery were determined (Frankel grade). RESULTS: The annual incidence of injuries for all codes combined did not change over the study period, but there was some decrease in rugby union and an increase in rugby league. In particular there was a significant decline in the incidence of adult rugby union injuries (P = 0.048). Scrum injuries in union have decreased subsequent to law changes in 1985, particularly in schoolboys, although ruck and maul injuries are increasing; 39% of scrum injuries occurred in players not in their regular position. Tackles were the most common cause of injury in league, with two-on-one tackles accounting for nearly half of these. Schoolboy injuries tended to mirror those in adults, but with a lower incidence. Over half of the players remain wheelchair-dependent, and 10% returned to near-normality. Six players (7.5%) died as a result of their injuries. CONCLUSIONS: The rugby codes must be made safer by appropriate preventative strategies and law changes. In particular, attention is necessary for tackle injuries in rugby league and players out of regular position in scrummage. Compensation for injured players is grossly inadequate. There is an urgent need to establish a national registry to analyse these injuries prospectively.

Adolescent↗
PubMed2003

Death, taxes, and the genetic code?

The genetic code is an enduring feature of biology: only rare circumstances result in changes to translation of the code, at least in nature. Researchers are devising methods to engineer ribosome-synthesized polypeptides containing novel and potentially useful amino acids.

Amino Acids↗
PubMed1998

Apply APGs to claims data to calculate impact of new reimbursement levels.

How are changes in outpatient reimbursement going to affect your bottom line? By analyzing Medicare's proposed APGs' effects on your past claims data, you can determine where to hone in on improving coding skills, making process changes to bring costs in line, or even touting specific services that will be profitable. Here's expert advice, plus benchmark data on APG impacts.

Abstracting and Indexing↗
PubMed1996

Codon reassignment in Candida species: an evolutionary conundrum.

A number of Candida species translate the standard leucine CUG codon as serine rather than as leucine. Such codon reassignment in nuclear-encoded mRNAs is unusual and raises a number of important questions about the origin of the genetic code and its continuing evolution. In particular we must establish how a codon can come to be reassigned without extinction of the species and what, if any, selective pressure drives such potentially catastrophic changes. Recent studies on the structure and identity of the novel CUG-decoding tRNA(Ser) from several different Candida species have begun to shed light on possible evolutionary mechanisms which could have facilitated such changes to the genetic code. These findings are reviewed here and a possible molecular mechanism proposed for how the standard leucine CUG codon could have become reassigned as a serine codon.

Base Sequence↗
PubMed2004

"Keeping each patient safe": quality safety teaching/learning packets.

BACKGROUND: University of Pittsburgh Medical Center (UPMC) McKeesport developed a tool, the UPMC McKeesport Quality Safety Teaching/Learning Packet, to provide physicians, nurses, and therapists with a common language to address complex safety issues. Teaching/learning packets were developed to "keep each patient safe": by calling for help early; from falls and confusion; and from hospital-acquired infections (http://McKeesport.upmc.com/KeepingPatientsSafe.htm). TEACHING/LEARNING PACKETS: In July 2002, the concept of calling for help early became a requirement at UPMC McKeesport. The code team was to be called for any significant change in status and for traditional code arrests. In 2004, a teaching/learning packet addressed the concepts of fall risk and acute (delirium) and chronic (dementia) confusion. Strategies were implemented to reduce the rate of falls through risk screening and interventions for falls and delirium. In April 2004, a teaching/learning packet was introduced to reduce hospital-acquired infections, and professionals were positioned to better address isolation, hand hygiene, central-line-associated bacteremia, Clostridium difficile, and appropriate antibiotic usage. SUMMARY AND CONCLUSIONS: Three quality safety teaching/learning packets, which provided the professionals in the organization with the common language (culture) to advance patient safety, accomplished rapid change and were well accepted by staff and physicians.

Efficiency, Organizational↗
PubMed2000

A novel subgenomic murine leukemia virus RNA transcript results from alternative splicing.

Here we show the existence of a novel subgenomic 4.4-kb RNA in cells infected with the prototypic replication-competent Friend or Moloney murine leukemia viruses (MuLV). This RNA derives by splicing from an alternative donor site (SD') within the capsid-coding region to the canonical envelope splice acceptor site. The position and the sequence of SD' was highly conserved among mammalian type C and D oncoviruses. Point mutations used to inactivate SD' without changing the capsid-coding ability affected viral RNA splicing and reduced viral replication in infected cells.

Alternative Splicing↗
PubMed2006

Knowledge of and attitude towards road traffic codes among commercial motorcycle riders in Anambra State.

Road traffic accidents (rtas) represent a major epidemic of non communicable disease in the country and has since escalated with the introduction of the new phenomenon of commercial motorcycle transportation such as is found in the two urban towns of nnewi and Awka of Anambra state, Nigeria. making use of a pre-tested, semi structured, interviewer administered questionnaire, relevant data on socio demographic and motorcycle characteristics were collected from a sample of commercial motorcyclists selected by systematic sampling technique. their knowledge of and attitude towards road traffic and safety codes were elicited. The result showed that the all-male commercial motorcyclists had a mean age of 30+8.9 years. one hundred and seventy six (32.6%) possessed good knowledge of road traffic codes and safety, while 35 (6.5%) exhibited good attitude towards them. both knowledge of and attitude towards traffic codes and safety improved with increase in educational level (p<0.005, p<0.001 respectively). the younger motorcyclists also possessed statistically significant better knowledge of traffic codes than their older counterparts (p<0.025). attitude to traffic codes and safety had no association with age of the motorcyclists (p>0.25). the study has provided useful information on the knowledge of and attitude towards road traffic and safety codes among commercial motorcyclists in nigeria. pursuit of knowledge through formal and informal education should run pari pasu with efforts to improve the nigerian economy in order to ensure a sustainable positive attitudinal change towards road traffic codes and safety among commercial motorcyclists.

Accident Prevention↗
PubMed1993

A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the beta-oxidation of fatty acids. Approximately 80% of patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985). The remaining patients (except for a few cases worldwide) are compound heterozygous with G985 in one allele. By sequencing of cloned PCR-amplified MCAD cDNA from a G985 compound heterozygous patient, we identified a C-to-T transition at position 157 as the only change in the entire coding sequence of the non-G985 allele. The presence of the T157 mutation was verified in genomic DNA from the patient and her mother by a PCR-based assay. The mutation changes conserved arginine at position 28 (R28C) of the mature MCAD protein. The effect of the T157 mutation on MCAD protein was investigated by expression of mutant MCAD cDNA in COS-7 cells. On the basis of knowledge about the three-dimensional structure of the MCAD protein, we suggest that the mutation destroys a salt bridge between arginine28 and glutamate86, thereby affecting the formation of enzymatically active protein. Twenty-two additional families with compound heterozygous patients were tested in the PCR-based assay. The T157 mutation was identified in one of these families, which had an MCAD-deficient child who died unexpectedly in infancy. Our results indicate that the mutation is rare. It is, however, noteworthy that a homologous mutation has previously been identified in the short-chain acyl-CoA dehydrogenase (SCAD) gene of a patient with SCAD deficiency, suggesting that the conserved arginine is crucial for formation of active enzyme in the straight-chain acyl-CoA dehydrogenases.

Acyl-CoA Dehydrogenase↗