Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Monaco”

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 91 records · Page 5Linked to original sources
PubMed1990

Recent advances in the molecular analysis of inherited disease.

Many important human genes have been cloned during the last ten years. In some cases, using reverse genetic techniques [Orkin, S. H. (1986) Cell 47, 845-850], disease-causing genes have been isolated whose product was previously unknown. Important examples include the dystrophin protein which, when mutated, gives rise to either Duchenne or Becker muscular dystrophy [Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. and Kunkel, L. M. (1987) Cell 50, 509-517; Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S. & Kunkel, L. M. (1988) Genomics 2, 90-95; Koenig, M., Monaco, A. P. & Kunkel, L. M. (1988) Cell 53, 219-228] and the cystic fibrosis transmembrane conductance regulator (CFTR) [Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M. L., Ianuzzi, M. C., Collins, F. S. & Tsui, L.-C. (1989) Science 245, 1066-1073]. Recently the technology for systematically detecting single base-pair changes by chemical methods, enzymatic methods or direct DNA sequencing has greatly expanded and simplified. In addition to providing structural information about these clinically important genes and information on disease-causing mutations, these studies have led to an increased understanding of mechanisms of mutation, to the discovery of novel genetic mechanisms and to important clinical applications of carrier detection and pre-natal diagnosis. The recent rapid progress has been made possible by the development of DNA amplification using the polymerase chain reaction (pcr) invented by Saiki and colleagues [Saiki, R. K., Chang, C-A., Levenson, C. H., Warren, T. C., Boehm, C. D., Kazazian, H. H. & Ehrlich, H. A. (1988) N. Engl. J. Med. 319, 537-541].

Chromosome Aberrations↗
PubMed1995

Structural effects of the binding of GTP to the wild-type and oncogenic forms of the ras-gene-encoded p21 proteins.

Molecular dynamics calculations have been performed to determine the average structures of ras-gene-encoded p21 proteins bound to GTP, i.e., the normal (wild-type) protein and two oncogenic forms of this protein, the Val 12- and Leu 61-p21 proteins. We find that the average structures for all of these proteins exhibit low coordinate fluctuations (which are highest for the normal protein), indicating convergence to specific structures. From previous dynamics calculations of the average structures of these proteins bound to GDP, major regional differences were found among these proteins [Monaco et al. (1995), J. Protein Chem., in press]. We now find that the average structures of the oncogenic proteins are more similar to one another when the proteins are bound to GTP than when they are bound to GDP [Monaco et al. (1995), J. Protein Chem., in press]. However, they still differ in structure at specific amino acid residues rather than in whole regions, in contradistinction to the results found for the p21-GDP complexes. Two exceptions are the regions 25-32, in an alpha-helical region, and 97-110. The two oncogenic (Val 12- and Leu 61-) proteins have similar structures which differ significantly in the region of residues 97-110. This region has recently been identified as being critical in the interaction of p21 with kinase target proteins. The differences in structure between the oncogenic proteins suggest the existence of more than one oncogenic form of the p21 protein that can activate different signaling pathways.

Binding Sites↗
PubMed1992

A molecular model of MHC class-I-restricted antigen processing.

Cells of higher vertebrates have evolved mechanisms that allow a sample of their intracellular contents to be available for surveillance by the immune system. This display of intracellular material is in the form of peptides bound to cell surface major histocompatibility complex (MHC) class I molecules. In this review, John Monaco presents a model of the mechanisms by which this takes place, based on the recent identification of a number of new genes in the MHC.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2005

Chicken liver bile acid-binding protein is in a compact partly folded state at acidic pH. Its relevance to the interaction with lipid membranes.

Chicken liver bile acid-binding protein (formerly known as chicken liver basic fatty acid-binding protein) binds to anionic lipid membranes acquiring a partly folded state [Nolan, V., Perduca, M., Monaco, H., Maggio, B., and Montich, G. (2003) Biochim. Biophys. Acta 1611, 98-106]. To understand the mechanisms of its interactions with membranes, we have investigated the presence of partly folded states in solution. Using fluorescence spectroscopy of the single Trp residue, circular dichroism in the far- and near-UV, Fourier transform infrared spectroscopy, and size-exclusion chromatography, we found that L-BABP was partly unfolded at pH 2.5 and low ionic strength, retaining some of its secondary structure. Addition of 0.1 M NaCl at pH 2.5 or decreasing the pH to 1.5 produced a more compact partly folded state, with a partial increase of secondary structure and none of tertiary structure. Fluorescence emission spectra of this state indicate that the Trp residue is within an environment of low polarity, similar to the native state. This environment is not produced by the insertion of the Trp into soluble aggregates as revealed by size-exclusion chromatography, fluorescence anisotropy, and infrared spectroscopy. The presence of partly folded states under acidic conditions in solution suggests the possibility that membrane binding of L-BABP occurs via this state.

Acids↗
PubMed2000

The role of ATP binding and hydrolysis by UvrB during nucleotide excision repair.

We have isolated UvrB-DNA complexes by capture of biotinylated damaged DNA substrates on streptavidin-coated magnetic beads. With this method the UvrB-DNA preincision complex remains stable even in the absence of ATP. For the binding of UvrC to the UvrB-DNA complex no cofactor is needed. The subsequent induction of 3' incision does require ATP binding by UvrB but not hydrolysis. This ATP binding induces a conformational change in the DNA, resulting in the appearance of the DNase I-hypersensitive site at the 5' side of the damage. In contrast, the 5' incision is not dependent on ATP binding because it occurs with the same efficiency with ADP. We show with competition experiments that both incision reactions are induced by the binding of the same UvrC molecule. A DNA substrate containing damage close to the 5' end of the damaged strand is specifically bound by UvrB in the absence of UvrA and ATP (Moolenaar, G. F., Monaco, V., van der Marel, G. A., van Boom, J. H., Visse, R., and Goosen, N. (2000) J. Biol. Chem. 275, 8038-8043). To initiate the formation of an active UvrBC-DNA incision complex, however, UvrB first needs to hydrolyze ATP, and subsequently a new ATP molecule must be bound. Implications of these findings for the mechanism of the UvrA-mediated formation of the UvrB-DNA preincision complex will be discussed.

Adenosine Triphosphatases↗
PubMedDate not supplied

[The discovery of anaphylaxis, a brief but triumphant encounter of two physiologists (1902)].

In 1901, during one of his oceanography cruises, Prince Albert the First of Monaco asks Paul Portier and Charles Richet to study the toxicity of small jellyfish fishing filaments (Coelentera). In the course of their work on the effects of a hypnotoxin extracted from various coelentera, they observe mortal accidents that are not a function of the dosage of the injections. Dogs that respond this way have all received a preparative injection, yet some dogs have no reaction to a second injection. In contrast the injection are activating when they occur more than 10 to 12 days after the first. This phenomenon is independent of the administered dosage, which may well be inferior to a toxic quantity. They call this phenomenon anaphylaxis, the contrary of protection, and analyze its primary characteristics. Paul Portier eventually returns to the Faculty of Sciences where he is Dastre's assistant. Charles Richer pursues research on anaphylaxis on his own in his laboratory at the Medical Faculty. By showing that an immune response could be pathogen as well as healing, these two scientists - who did not know each other before, working together for a few short months - made a discovery that opened up new venues in the growing field of medical immunology.

Anaphylaxis↗
PubMed2006

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the stability of muscle-fiber membranes. In 1988, Monaco and colleagues postulated an explanation for the phenotypic difference between Duchenne and Becker patients in the reading-frame rule: In Duchenne patients, mutations induce a shift in the reading frame leading to prematurely truncated, dysfunctional dystrophins. In Becker patients, in-frame mutations allow the synthesis of internally deleted, but largely functional dystrophins. Currently, over 4700 mutations have been reported in the Leiden DMD mutation database, of which 91% are in agreement with this rule. In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype-phenotype correlations and mutations that appear to be exceptions to the reading-frame rule.

Databases, Genetic↗
PubMed1989

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

DNA from 80 Duchenne (DMD) and 15 Becker (BMD) index patients was analyzed with 12 genomic probes and the total cDNA. Deletions were detected in 24 DMD (30%) and 10 BMD patients (67%) by genomic probes alone, mostly p20, pXJ, and/or pERT87. All deletions were confirmed by cDNA probes, and an additional 29 DMD deletions were detected, resulting in a total of 63/95 deletions (66%). The majority of the deletions are localized between kb 6.7 and 9.7 of the cDNA; a smaller group, between kb 0.5 and 3.5. Of the deletions, 90% are detected by the three cDNA probes 1-2a, 7, and 8. This can be applied to strategies for carrier detection and prenatal diagnosis. The order of 13 exon-containing HindIII fragments in the region between probes 7 and 9-10, where most of the deletions are found, could be defined. The deletion patterns in DMD and BMD patients are different and well in accordance with the "reading frame theory" of Monaco and coworkers. Thus our findings indicate that a DMD or BMD phenotype may be predicted according to the breakpoint position and the number of deleted exons.

Chromosome Deletion↗
PubMed2004

Mechanical synchrony: role of surgical ventricular restoration in correcting LV dyssynchrony during chamber rebuilding.

Cardiac failure is frequently complicated by intra and or interventricular conduction delay that results in dyssynchronized cardiac contraction and relaxation. In contrast to an electrical intervention by biventricular pacing, this study tests the capacity of geometric rebuilding by surgical ventricular restoration (SVR) to restore a more synchronous contractile pattern through mechanical reconstruction without exogenous pacing input. Thirty patients (58 +/- 8 years) undergoing SVR at the Cardiothoracic Center of Monaco were prospectively evaluated with a protocol which uses simultaneous measurements of ventricular volumes and pressure to construct pressure/volume (P/V) and pressure/length (P/L) loops. Mean QRS duration was within normal limits (100 +/- 17 ms) preoperatively. Preoperative LV contraction was highly asynchronous. Endocardial time motion was either early or delayed at the end-systolic phase, yielding P/L loops with abnormal in size, shape, and orientation. Postoperatively, SVR resulted in leftward shifting of P/V loops and increased area; endocardial time motion and P/L loops almost normalized. The hemodynamic consequences of SVR included improved ejection fraction; reduced end-diastolic and end-systolic volume index; more rapid peak filling rate; peak ejection rate and mechanical efficiency resulting in mechanical intraventricular resynchronization that improves LV performance.

Cardiac Catheterization↗
PubMed1983

Total mercury concentrations in human hair from 13 countries in relation to fish consumption and location.

Five hundred and fifty nine samples of human head hair from 32 locations in 13 countries were analysed for mercury. Tests of different techniques for cleaning and storing samples showed that at ambient air mercury concentrations contamination of samples is undetectable. Arithmetic mean mercury concentrations for people who ate fish 1-4 times each month were: Australia, 2.5 ppm; Canada, 1.2 ppm; China, 0.9 ppm; West Germany, 0.5 ppm; Hong Kong, 3.0 ppm; Italy, 1.5 ppm; Japan, 3.9 ppm; Monaco, 1.7 ppm; New Zealand, 1.3 ppm; Papua New Guinea, 1.8 ppm; South Africa, 1.9 ppm; U.K., 1.6 ppm and USA, 2.4 ppm. The differences are believed to be due to diet and environment. Mean hair mercury concentrations were significantly different for the group that ate fish once or less a month (1.4 ppm) once a fortnight (1.9 ppm) once a week (2.5 ppm) and once or more a day (11.6 ppm). Simplified models of mercury pathways in the environment and man are presented. Hair mercury concentrations measured here and those reported in the literature suggested that the weighted mean hair mercury concentration of people living in both northern and southern hemispheres at latitudes greater than 40 degrees had hair mercury concentrations which were significantly lower than at other latitudes, even in industrialized countries. It is suggested that lower soil temperatures could retard mercury volatilization and inhibits its movement into pathways which get back to man.

Air Pollutants↗