bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular genetics of PKU
Authors: Güttler F. , Woo S. L. C. 
Published: June 2005

AbstractThis review summarizes the isolation of rat phenylalanine hydroxylase mRNA and its use in the synthesis of its cDNA. As rat cDNA cross‐hybridized with human phenylalanine hydroxylase mRNA, the rat cDNA probe was used to screen a human liver cDNA library. A partial length cDNA human phenylalanine hydroxylase probe was obtained which showed restriction fragment length polymorphism (RFLP) with 3 restriction enzymes and was successfully used to trace the transmission of the mutant gene in PKU families with one or more affected children. Recently the partial‐length cDNA probe has been used to isolate a full‐length cDNA probe for human phenylalanine hydroxylase. Gene transfer experiments with the full‐length cDNA have led to expression of human phenylalanine hydroxylase in eukaryotic cultured cells and in recombinant bacteria which normally do not express phenylalanine hydroxylase activity. The full‐length cDNA of human phenylalanine hydroxylase has been sequenced, uncovering the nucleic acid sequence of the exons of the human phenylalanine hydroxylase gene, as well as the most likely amino acid structure of the human phenylalanine hydroxylase enzyme. The full‐length cDNA probe has 10 identifiable binding sites for restriction enzymes that show RFLP. These additional RFLPs have enabled haplotype analyses of the normal and mutant phenylalanine hydroxylase genes in PKU families. Haplotype analyses in Danish PKU families revealed 12 different haplotypes. However, of 132 chromosomes analysed from 66 obligate heterozygotes, 59 out of 66 PKU genes were associated with only 4 haplotypes. Cosmid cloning and preliminary characterization of the human phenylalanine hydroxylase gene have identified 13 exons distributed across a gene that is more than 190 kb in length. In β‐thalassaemia, distinct mutations in the β‐globin locus are associated with specific RFLP haplotypes within a given population. As in thalassaemia such an association forms a strategy for cloning and sequence characterization of mutant phenylalanine hydroxylase genes derived from each haplotype. If the PKU genes in the Danish population are the result of mutiple mutations which occurred on chromosomes of the most common haplotypes, the same strategy is potentially applicable for the molecular characterization of the various types of phenylalanine hydroxylase deficiency.
Measuring quality of life in first-episode psychosis
Authors: Melle I. , Friis S. , Haahr U. , Johannesen J.O. , Larsen T.K. , Opjordsmoen S. , Roessberg J.I. , Rund B.R. , Simonsen E. , Vaglum P. , McGlashan T. 
Published: June 2005

AbstractQuality of life (QoL) measures are increasingly recognized as necessary parts of outcome assessments in psychosis. The present paper is a comprehensive study of patients with first-episode psychosis where QoL is measured by the commonly used Lehman Quality of Life Interview (L-QoLI). The aim is to examine if the L-QoLI maintain its original structure when used in a group of patients with first-episode psychosis, and to investigate what determines global subjective QoL with a specific emphasis on premorbid adjustment, duration of untreated psychosis (DUP) and clinical symptoms. The study indicates that the psychometric properties of the L-QoLI do not change significantly when used in first-episode samples. The patients report subjective and objective QoL in the fair to good range, with only a moderate association between the objective and subjective measures. Poor global satisfaction is predicted by being single, abusing drugs, being depressed, having a diagnosis of psychotic affective disorder, having poor premorbid social adjustment and DUP over 10 weeks. The study supports the notion that patients with first-episode psychosis construct QoL in the same way as other groups, and that longer durations of compromised function at this stage produces poor satisfaction with life rather than a downward readjustment of expectations.
Do personality disorders predict negative treatment outcome in obsessive–compulsive disorders? A prospective 6-month follow-up study
Authors: Fricke Susanne , Moritz Steffen , Andresen Burghard , Jacobsen Dirk , Kloss Martin , Rufer Michael , Hand Iver 
Published: June 2005

AbstractBackground.Comorbid personality disorders (PDs) are discussed as risk factors for a negative treatment outcome in obsessive–compulsive disorder (OCD). However, studies published so far have produced conflicting results. The present study examined whether PDs affect treatment outcome in patients with OCD.Methods.The treatment sample consisted of 55 patients with OCD who were consecutively referred to a Behaviour Therapy Unit for an in-patient or day-clinic treatment. Treatment consisted of an individualised and multimodal cognitive behaviour therapy (CBT, with or without antidepressive medication). Measurements were taken prior and after treatment and 6-month after admission.Results.A large percentage of patients benefited from treatment irrespective of the presence of a PD and were able to maintain their improvement at follow-up. Duration of treatment was not prolonged in OCD patients with concomitant Axis II disorders. However, some specific personality traits (schizotypal, passive–aggressive) were baseline determinants for later treatment failure at trend level.Conclusions.Results are encouraging for therapists working with patients co-diagnosed with Axis II disorders since these patients are not necessarily non-responders. The results stress the importance of a specifically tailored treatment approach based on an individual case formulation in OCD patients with complex symptomatology and comorbid Axis II disorders.
Basal ganglia calcification and psychosis in 22q11.2 deletion syndrome
Authors: Sieberer M. , Haltenhof H. , Haubitz B. , Pabst B. , Miller K. , Garlipp P. 
Published: June 2005

AbstractIntracerebral calcifications are a facultative symptom of hypoparathyreoidism in 22q11.2 deletion syndrome (22qDS). We describe a patient with 22qDS, basal ganglia calcification (BGC) and psychotic symptoms and discuss the etiological connection of BGC with psychiatric symptoms. Future work needs to determine the prevalence of BGC in 22qDS and psychiatric disorders.
Peter Maxwell Davies new and classic
Authors: Venn Edward 
Published: June 2005

MAXWELL DAVIES: Miss Donnithorne's Maggot; Eight Songs for a Mad King. Jane Manning (sop), Kelvin Thomas (bar), Psappha. PSA CS 1001MAXWELL DAVIES: Naxos Quartets Nos. 1 and 2. Maggini Quartet. Naxos 8.557396
Brun and Bloch
Authors: Palmer Peter 
Published: June 2005

BRUN: Symphony No. 3 in D minor. Moscow Symphony Orchestra c. Adriano. Sterling CDS-1059-2.BLOCH: Helvetia; Suite for viola and orchestra; Suite Hébraïque for viola and orchestra. Gérard Caussé, (vla), Orchestre de la Suisse Romande c. Lior Shambadal. Cascavelle RSR 6170.
Characterization of a novel human sperm-associated antigen 9 (SPAG9) having structural homology with c-Jun N-terminal kinase-interacting protein
Authors: JAGADISH Nirmala , RANA Ritu , SELVI Ramasamy , MISHRA Deepshikha , GARG Manoj , YADAV Shikha , HERR John C. , OKUMURA Katsuzumi , HASEGAWA Akiko , KOYAMA Koji , SURI Anil 
Published: June 2005

We report a novel SPAG9 (sperm-associated antigen 9) protein having structural homology with JNK (c-Jun N-terminal kinase)-interacting protein 3. SPAG9, a single copy gene mapped to the human chromosome 17q21.33 syntenic with location of mouse chromosome 11, was earlier shown to be expressed exclusively in testis [Shankar, Mohapatra and Suri (1998) Biochem. Biophys. Res. Commun. 243, 561–565]. The SPAG9 amino acid sequence analysis revealed identity with the JNK-binding domain and predicted coiled-coil, leucine zipper and transmembrane domains. The secondary structure analysis predicted an α-helical structure for SPAG9 that was confirmed by CD spectra. Microsequencing of higher-order aggregates of recombinant SPAG9 by tandem MS confirmed the amino acid sequence and mono atomic mass of 83.9 kDa. Transient expression of SPAG9 and its deletion mutants revealed that both leucine zipper with extended coiled-coil domains and transmembrane domain of SPAG9 were essential for dimerization and proper localization. Studies of MAPK (mitogenactivated protein kinase) interactions demonstrated that SPAG9 interacted with higher binding affinity to JNK3 and JNK2 compared with JNK1. No interaction was observed with p38α or extracellular-signal-regulated kinase pathways. Polyclonal antibodies raised against recombinant SPAG9 recognized native protein in human sperm extracts and localized specifically on the acrosomal compartment of intact human spermatozoa. Acrosome-reacted spermatozoa demonstrated SPAG9 immunofluorescence, indicating its retention on the equatorial segment after the acrosome reaction. Further, anti-SPAG9 antibodies inhibited the binding of human spermatozoa to intact human oocytes as well as to matched hemizona. This is the first report of sperm-associated JNK-binding protein that may have a role in spermatozoa–egg interaction.
A statherin and calcium enriched layer at the air interface of human parotid saliva
Authors: PROCTOR Gordon B. , HAMDAN Sawsan , CARPENTER Guy H. , WILDE Peter 
Published: June 2005

Parotid saliva placed in 35-mm-diameter tissue culture dishes developed increasing surface viscoelasticity at the interface with air. A surface layer became visible with time, and was collected and analysed by protein electrophoresis which indicated that a single protein (pI 4.2; molecular mass approx. 6 kDa) predominated. Western blot analysis demonstrated that the major protein band reacted with an antiserum directed against the C-terminal of the calcium-binding salivary protein statherin. Matrix-assisted laser-desorption ionization–time-of-flight MS analysis gave a molecular mass of 5380 Da for the protein, corresponding to the molecular mass of statherin. Staining of film protein in electrophoresis gels was compared with statherin synthesized on a solid phase, and the mean statherin content of film formed from 1 ml of parotid saliva was measured as 7 nmol. The mean calcium content of the surface layer was 250 nmol. Surface rheology was greatly decreased in the presence of EDTA, whereas surface tension of saliva was unaffected by calcium chelation, suggesting that protein accumulated at the surface was unaffected. The results suggest that a layer rich in statherin forms at the interface of saliva and air, and that the surface rheology developed is dependent upon protein interactions mediated by calcium. The surface layer may enhance the function of saliva as a protective layer on the mucosal surfaces and teeth.
Molecular and biochemical characterization of an endo-β-1,3-glucanase from the pinewood nematode Bursaphelenchus xylophilus acquired by horizontal gene transfer from bacteria
Authors: KIKUCHI Taisei , SHIBUYA Hajime , JONES John T. 
Published: June 2005

We report the cloning and functional characterization of an endo-β-1,3-glucanase from the pinewood nematode Bursaphelenchus xylophilus acquired by horizontal gene transfer from bacteria. This is the first gene of this type from any nematode species. We show that a similar cDNA is also present in another closely related species B. mucronatus, but that similar sequences are not present in any other nematode studied to date. The B. xylophilus gene is expressed solely in the oesophageal gland cells of the nematode and the protein is present in the nematode's secretions. The deduced amino acid sequence of the gene is very similar to glycosyl hydrolase family 16 proteins. The recombinant protein, expressed in Escherichia coli, preferentially hydrolysed the β-1,3-glucan laminarin, and had very low levels of activity on β-1,3-1,4-glucan, lichenan and barley β-glucan. Laminarin was degraded in an endoglucanase mode by the enzyme. The optimal temperature and pH for activity of the recombinant enzyme were 65 °C and pH 4.9. The protein is probably important in allowing the nematodes to feed on fungi. Sequence comparisons suggest that the gene encoding the endo-β-1,3-glucanase was acquired by horizontal gene transfer from bacteria. B. xylophilus therefore contains genes that have been acquired by this process from both bacteria and fungi. These findings support the idea that multiple independent horizontal gene transfer events have helped in shaping the evolution of several different life strategies in nematodes.
Sphingosine 1-phosphate analogue recognition and selectivity at S1P4 within the endothelial differentiation gene family of receptors
Authors: INAGAKI Yuichi , PHAM TrucChi T. , FUJIWARA Yuko , KOHNO Takayuki , OSBORNE Daniel A. , IGARASHI Yasuyuki , TIGYI Gabor , PARRILL Abby L. 
Published: June 2005

Synergistic computational and experimental studies provided previously unforeseen details concerning the structural basis of S1P (sphingosine 1-phosphate) recognition by the S1P4 G-protein-coupled receptor. Similarly to reports on the S1P1 receptor, cationic and anionic residues in the third transmembrane domain (R3.28 and E3.29 at positions 124 and 125) form ion pairs with the phosphate and ammonium of S1P, and alanine mutations at these positions abolished specific S1P binding, S1P-induced receptor activation and cell migration. Unlike findings on the S1P1 receptor, no cationic residue in the seventh transmembrane domain interacts with the phosphate. Additionally, two previously undiscovered interactions with the S1P polar headgroup have been identified. Trp186 at position 4.64 in the fourth transmembrane domain interacts by a cation-π interaction with the ammonium group of S1P. Lys204 at position 5.38 forms an ion pair with the S1P. The S1P4 and S1P1 receptors show differences in binding-pocket shape and electrostatic distributions that correlate with the published structure–activity relationships. In particular, the binding pocket of mS1P4 (mouse S1P4) has recognition sites for the anionic phosphate and cationic ammonium groups that are equidistant from the end of the non-polar tail. In contrast, the binding pocket of hS1P1 (human S1P4) places the ammonium recognition site 2 Å (1 Å=0.1 nm) closer to the end of the non-polar tail than the phosphate recognition site.
Mitochondrial reactive oxygen species regulate the temporal activation of nuclear factor κB to modulate tumour necrosis factor-induced apoptosis: evidence from mitochondria-targeted antioxidants
Authors: HUGHES Gillian , MURPHY Michael P. , LEDGERWOOD Elizabeth C. 
Published: June 2005

ROS (reactive oxygen species) from mitochondrial and non-mitochondrial sources have been implicated in TNFα (tumour necrosis factor α)-mediated signalling. In the present study, a new class of specific mitochondria-targeted antioxidants were used to explore directly the role of mitochondrial ROS in TNF-induced apoptosis. MitoVit E {[2-(3,4-dihydro-6-hydroxy-2,5,7,8-tetramethyl-2H-1-benzopyran-2-yl)ethyl]triphenylphosphonium bromide} (vitamin E attached to a lipophilic cation that facilitates accumulation of the antioxidant in the mitochondrial matrix) enhanced TNF-induced apoptosis of U937 cells. In time course analyses, cleavage and activation of caspase 8 in response to TNF were not affected by MitoVit E, whereas the activation of caspase 3 was significantly increased. Furthermore, there was an increased cleavage of the proapoptotic Bcl-2 family member Bid and an increased release of cytochrome c from mitochondria, in cells treated with TNF in the presence of MitoVit E. We considered several mechanisms by which MitoVit E might accelerate TNF-induced apoptosis including mitochondrial integrity (ATP/ADP levels and permeability transition), alterations in calcium homoeostasis and transcription factor activation. Of these, only the transcription factor NF-κB (nuclear factor κB) was implicated. TNF caused maximal nuclear translocation of NF-κB within 15 min, compared with 1 h in cells pretreated with MitoVit E. Thus the accumulation of an antioxidant within the mitochondrial matrix enhances TNF-induced apoptosis by decreasing or delaying the expression of the protective antiapoptotic proteins. These results demonstrate that mitochondrial ROS production is a physiologically relevant component of the TNF signal-transduction pathway during apoptosis, and reveal a novel functional role for mitochondrial ROS as a temporal regulator of NF-κB activation and NF-κB-dependent antiapoptotic signalling.
Immunodetection of the expression of microsomal proteins encoded by the glucose 6-phosphate transporter gene
Authors: SENESI Silvia , MARCOLONGO Paola , KARDON Tamas , BUCCI Giovanna , SUKHODUB Andrey , BURCHELL Ann , BENEDETTI Angelo , FULCERI Rosella 
Published: June 2005

Glucose 6-phosphate transport has been well characterized in liver microsomes. The transport is required for the functioning of the glucose-6-phosphatase enzyme that is situated in the lumen of the hepatic endoplasmic reticulum. The genetic deficiency of the glucose 6-phosphate transport activity causes a severe metabolic disease termed type 1b glycogen storage disease. The cDNA encoding a liver transporter for glucose 6-phosphate was cloned and was found to be mutated in patients suffering from glycogen storage disease 1b. While related mRNAs have been described in liver and other tissues, the encoded protein(s) has not been immunologically characterized yet. In the present study, we report (using antibodies against three different peptides of the predicted amino acid sequence) that a major protein encoded by the glucose 6-phosphate transporter gene is expressed in the endoplasmic reticulum membranes of rat and human liver. The protein has an apparent molecular mass of approx. 33 kDa using SDS/PAGE, but several lines of evidence indicate that its real molecular mass is 46 kDa, as expected. The glucose 6-phosphate transporter protein was also immunodetected in kidney microsomes, but not in microsomes derived from human fibrocytes, rat spleen and lung, and a variety of cell lines. Moreover, little or no expression of the glucose 6-phosphate transporter protein was found in liver microsomes obtained from three glycogen storage disease 1b patients, even bearing mutations that do not directly interfere with protein translation, which can be explained by a (proteasome-mediated) degradation of the mutated transporter.
The capsular polysaccharide biosynthesis of Streptococcus pneumoniae serotype 8: functional identification of the glycosyltransferase WciS (Cap8H)
Authors: SAKSOUK Nehmé , PELOSI Ludovic , COLIN-MOREL Pierre , BOUMEDIENNE Manel , ABDIAN Patricia L. , GEREMIA Roberto A. 
Published: June 2005

CPS (capsular polysaccharide) is a major virulence factor in Streptococcus pneumoniae. Biosynthesis of CPS RU (repeat unit) proceeds by sequential transfer of sugar residues from the appropriate sugar donor to an activated lipid carrier by committed GTs (glycosyltransferases). While the nucleotide sequence of many cps loci is already known, the real substrate specificity of the hypothetical GTs, as well as the sequence of sugar addition is unclear. In the present paper, we report the biochemical characterization of one α-galactosyltransferase, WciS (Cap8H), a member of GT family 4. This enzyme is implicated in the tetrasaccharide RU biosynthetic pathway of Strep. pneumoniae CPS 8 ([→4)-α-D-Glcp-(1→4)-α-D-Galp-(1→4)-β-D-GlcAp-(1→4)-β-D-Glcp-(1→]n). Expression of WciS–His6 in Escherichia coli BL21 (DE3) strains or BL21 (DE3)/ΔgalU strain resulted in synthesis of a 39 kDa membrane-associated protein identified by N-terminal sequencing and recognized by anti-His6-tag antibody. This protein was capable of adding a galactose residue cellobiuronic acid [β-D-GlcAp-(1→4)-D-Glcp]-pyrophosphate-polyprenol from UDP-Gal. The newly added galactose residue is removed by α-galactosidase, indicating that WciS is a retaining GT. Our results suggest that WciS catalyses the addition of the third sugar residue of the CPS 8 RU. The recombinant WciS–His6 was solubilized and purified as a soluble multimer, opening the way for structural studies.
What happened in 1953? The Big Flood in the Netherlands in retrospect
Authors: Gerritsen Herman 
Published: June 2005

During the weekend of Saturday 31 January to Sunday 1 February 1953, a storm tide raged across the northwest European shelf and flooded the low-lying coastal areas of the countries around the North Sea. The peak high waters occurred during the night and the storm surprised many people in their sleep. The resulting disaster in terms of loss of life and damage to infrastructure was enormous. In the Netherlands, 1836 people fell victim to the flood; in the UK and Belgium, the casualities were 307 and 22, respectively. The large number of fatalities in the Netherlands was related to the fact that much of the affected area is below sea-level.
This paper focuses on the case of the Netherlands. It discusses the history of land reclamation, and the fact that living in low-lying areas protected by dykes, often below sea-level, is an accepted fact of life in the Netherlands. The historical approach to dyke maintenance is then outlined, and the state of the dykes in the early twentieth century and after the war is discussed. The characteristics of the storm and the flood are discussed, along with people's experiences of the first hours and days following the flood. The impact of this human stress has often been lasting—many survivors continue to live with daily memories of the flood. Attention is given to the large-scale rescue and relief efforts, the closure of the dykes during the following nine months and the concept of the Delta Plan, designed to prevent such a large-scale disaster ever happening again. Although the 1953 storm was indeed a low probability event leading to very high storm-induced water-levels, and occurred in combination with spring tide, several arguments are presented that explain why this flood turned into a disaster of such a large scale. Equally, the question is raised whether the disaster could have been prevented. The paper concludes by noting the importance of awareness and preparedness in order to prevent a future storm threat of this scale turning into a disaster of the scope of the Big Flood of 1953.
Management planning and control
Authors: Herremans Irene M. , Isaac Robert G. 
Published: June 2005

PurposeThe purpose of this paper is to develop propositions for empirical validation regarding appropriate management planning and control systems (MPACS) in knowledge‐intensive organizations.Design/methodology/approachThe propositions were developed from interviews with members of a knowledge‐intensive virtual organization that is known for its innovative practices regarding intellectual capital (IC) development and surveys from low to middle range managers, using a semi‐structured questionnaire, from a variety of companies. Trends in responses permitted us to identify issues of importance in developing innovative MPACS for knowledge‐intensive companies.FindingsThe paper proposes that two variables, the level of IC intensity and the uncertainty of knowledge, are important for determining the degree of adaptive versus generative characteristics that an organization's MPACS should contain. Regarding IC, the paper further proposes that organizations must give careful thought to ensure that both adaptive and generative characteristics are aligned with four MPACS elements of focus, commitment, capability, and learning.Originality/valueAs organizations develop programs to realize the potential from their intellectual capital, many fail to develop MPACS that are appropriate for knowledge‐intensive environments. MPACS should support knowledge creation, as well as knowledge sharing, and contain elements of both adaptive and generative systems.