Experimental Method for the Determination of the Saturation Vapor Pressure above Supercooled Nanoconfined Liquids.

For sorption studies, the saturation vapor pressure above an adsorbate is of great significance. For example, it is needed for the determination of the pore size distribution, the Laplace pressure, and the chemical potential. Above the bulk triple point, , this pressure is identical with the saturation vapor pressure above the bulk liquid.

Requirements to Determine the Average Pore Size of Nanoporous Media Using Ultrasound.

Liquids in nanoporous media are exposed to an adsorption-induced pressure, a consequence of the interaction with the pore surface. The smaller the pore diameter, , the higher the pressure at saturation and thus the bulk modulus of the confined liquid. Therefore, it has been proposed to use ultrasonic measurements on saturated nanoporous media for the determination of the average pore size.

Experimental method for the determination of adsorption-induced changes of pressure and surface stress in nanopores.

The change of surface stress is an important quantity characterising the behaviour of nanoporous systems, however, it is difficult to assess experimentally. In this letter we develop and demonstrate an experimental method for the determination of adsorption-induced changes of the surface stress in nanoporous materials. With the aid of ultrasonic measurements we determine the dependence of the adsorbate's longitudinal modulus [Formula: see text] on the adsorption-induced normal pressure, [Formula: see text], which is exerted by the adsorbate on the porous matrix.

Correlation between the Sorption-Induced Deformation of Nanoporous Glass and the Continuous Freezing of Adsorbed Argon.

In this article we study the dependence of the sorption-induced deformation of nanoporous glass on the liquid-solid phase transition of adsorbed argon. During cooling we observe a continuous reduction of the expansion of the porous glass matrix caused by the adsorbate. The contraction is attended by a likewise continuous change of the adsorbed argon's phase state from liquid to solid.

Unexpected sorption-induced deformation of nanoporous glass: evidence for spatial rearrangement of adsorbed argon.

Sorption of substances in pores generally results in a deformation of the porous matrix. The clarification of this effect is of particular importance for the recovery of methane and the geological storage of CO2. As a model system, we study the macroscopic deformation of nanoporous Vycor glass during the sorption of argon using capacitative measurements of the length change of the sample.

Elastic properties of liquid and solid argon in nanopores.

We have measured sorption isotherms and determined the intrinsic longitudinal elastic modulus β(Ar,ads) of nanoconfined material via ultrasonic measurements combined with a special effective medium analysis. In the liquid regime the adsorbate only contributes to the measured effective properties when the pores are completely filled and the modulus is bulklike. At partial fillings its contribution is cancelled out by the high compressibility of the vapour phase.

Continuous freezing of argon in completely filled mesopores.

We have studied the phase transition of argon in completely filled mesopores. Our effective medium analysis of ultrasonic measurements clearly indicates a continuous phase transition of argon in completely filled pores over a broad temperature range of about 45 K. With decreasing temperature, the amount of frozen argon increases and below about 30 K all adsorbed argon (including the first few layers near the pore wall) is frozen with a shear modulus about equal to the bulk shear modulus.

HLA class I, II & III genes in confirmed late-onset Alzheimer's disease.

We first examined all the then known alleles (1997) at the HLA-A, B, Bw, C, DRB1, 3, 4 and 5, and DQB1 loci in 55 late-onset (>65y) AD cases and 73 elderly controls from Oxford. We found an association of HLA-B7 with late-onset AD (odds ratio = 3.1, corrected P = 0.

Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease.

Recent reports on a potential association between the K-variant of the gene for butyrylcholinesterase (BCHE-K) and Alzheimer's disease (AD) are discordant. An initial finding of association through a synergistic enhancement of risk of APOE epsilon4 with late-onset AD has not been confirmed by others. We have conducted a case-control study of histopathologically confirmed AD (n=135) and non-AD (n=70) cases (age of death > or =60 years), in which we have genotyped for APOE epsilon4, BCHE-K, and BCHE-A1914G, a silent polymorphism 299 bp downstream of the BCHE-K mutation.

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination allele R398ter, showed a significant (P < .01) decrease in mean plasma ornithine levels, following pyridoxine supplementation with a constant protein intake: 826 +/- 128 microM (n = 5; no pyridoxine supplementation) versus 504 +/- 112 microM (n = 6; 500 mg pyridoxine/d) and 546 +/- 19 microM (n = 6; 1,000 mg pyridoxine/d).

Mutational analysis of Saccharomyces cerevisiae U4 small nuclear RNA identifies functionally important domains.

U4 small nuclear RNA (snRNA) is essential for pre-mRNA splicing, although its role is not yet clear. On the basis of a model structure (C. Guthrie and B.

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients.

Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.

Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (mHS) is the first enzyme of ketogenesis, whereas the cytoplasmic HS isozyme (cHS) mediates an early step in cholesterol synthesis. We here report the sequence of human and mouse liver mHS cDNAs, the sequence of a HS-like cDNA from Caenorhabditis elegans, the structure of a partial human mHS genomic clone, and the mapping of the human mHS gene to chromosome 1p12-p13. The nucleotide sequence of the human mHS cDNA encodes a mature mHS peptide of 471 residues, with a mean amino acid identity of 66.

Mutational analysis of the PRP4 protein of Saccharomyces cerevisiae suggests domain structure and snRNP interactions.

The PRP4 protein of Saccharomyces cerevisiae is an essential part of the U4/U6 snRNP, a component of the mRNA splicing apparatus. As an approach to the determination of structure-function relationships in the PRP4 protein, we have isolated more than fifty new alleles of the PRP4 gene through random and site-directed mutagenesis, and have analyzed the phenotypes of many of them. Twelve of the fourteen single-point mutations that give rise to temperature-sensitive (ts) or null phenotypes are located in the portion of the PRP4 gene that corresponds to the beta-transducin-like region of the protein; the remaining two are located in the central portion of the gene, one of them in an arginine-lysine-rich region.

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex.

Long range physical mapping within the p21 region of the X chromosome identified a CpG rich island approximately 180 kb centromeric to the chronic granulomatous disease (CGD) locus. The segments adjacent to the CpG island hybridized to discrete bands in DNAs of several species and when used to screen retinal cDNA libraries led to the identification of cDNAs that detected a mRNA of 2.1 kb in many tissues.

Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.

The 51-kDa flavoprotein subunit of mitochondrial NADH:ubiquinone oxidoreductase (Complex I) [NADH dehydrogenase (ubiquinone), flavoprotein 1 (51 kDa); EC 1.6.5.

A mutation in the human ryanodine receptor gene associated with central core disease.

Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hyperthermia (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual.

Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.

Endothelial nitric oxide (NO) synthase is a unique NO synthase isoform that is expressed constitutively by vascular endothelium both in vivo and in vitro and is believed essential to local vascular homeostasis. This calcium/calmodulin-dependent isoform is distinct from neuronal NO synthase. Genomic clones encoding the human endothelial NO synthase were isolated and the structural organization of the gene was determined.

Molecular cloning of the cDNA and chromosomal localization of the gene for a putative seven-transmembrane segment (7-TMS) receptor isolated from human spleen.

A family of proinflammatory cytokines sharing several structural features has been described and includes, for example, interleukin-8, monocyte chemoattractant protein-1, and melanocyte growth stimulatory activity. Recently, the receptors for interleukin-8 have been isolated and found to belong to the seven-transmembrane domain class of G protein-coupled receptors. As other members of this cytokine family likely interact with similar receptors, the polymerase chain reaction was employed to isolate related receptors from human peripheral blood adherent cells.

Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.

Rom-1 and peripherin are related membrane proteins of the photoreceptor outer segments. Both proteins are located at the rims of the photoreceptor disks, where they may act jointly in disk biogenesis. Mutations in the gene (RDS) encoding peripherin cause autosomal dominant retinitis pigmentosa, autosomal dominant punctata albescens and butterfly macular degeneration in man, and retinal degeneration slow in mice.

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) catalyzes the final step of ketogenesis, an important pathway of mammalian energy metabolism. HL deficiency is an autosomal recessive inborn error in man leading to episodes of hypoglycemia and coma. Using the N-terminal peptide sequence of purified chicken liver HL, we designed degenerate sequence primers and amplified an 89-base pair (bp) chicken liver HL cDNA fragment.

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes.

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL) is a homodimeric mitochondrial matrix enzyme that catalyzes the last step of ketogenesis. Using a human HL cDNA as a probe, we isolated a 1.4-kb mouse HL cDNA (HLM) from a mouse liver library and extended the sequence in the 5' direction, using RACE PCR to include the complete coding sequence.

The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates.

Myosin participates in a varying repertoire of cellular functions ranging from cytokinesis, receptor capping and secretion to sarcomere contraction. In vertebrates this functional complexity is achieved through the regulated expression of gene families encoding isoproteins for each of the myosin subunits. We report here the identification and characterization of a gene (MYL5) that encodes a novel regulatory myosin light chain isoprotein and maps 700 kb from the human chromosome 4p telomere.

Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease.

The genetic defect underlying Huntington's disease (HD) has been mapped to 4p16.3. Refined localization using recombinant HD chromosome analysis and allelic association analyses have identified two distinct candidate regions.

Molecular cloning and characterization of human endothelial nitric oxide synthase.

The constitutive calcium/calmodulin-dependent nitric oxide (NO) synthase expressed in vascular endothelium shares common biochemical and pharmacologic properties with neuronal NO synthase. However, recent cloning and molecular characterization of NO synthase from bovine endothelial cells indicated the existence of a family of constitutive NO synthases. Accordingly, we undertook molecular cloning and sequence analysis of human endothelial NO synthase.