bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
Authors: Sanggaard Kirsten M. , Kjaer Klaus W. , Eiberg Hans , Nürnberg Gudrun , Nürnberg Peter , Hoffman Katrin , Jensen Hanne , Sørum Charlotte , Rendtorff Nanna D. , Tranebjærg Lisbeth 
Published: March 2008

AbstractAutosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently 54 distinct loci (DFNA1‐54), and >20 different genes identified. Seven different unconventional myosin genes are involved in ten different types of syndromic and nonsyndromic hearing loss with different patterns of inheritance: MYO7A in DFNA11/DFNB2/USH1B, MYH9 in DFNA17, MYH14 in DFNA4, MYO6 in DFNA22/DFNB37, MYO3A in DFNB30, MYO1A in DFNA48, and MYO15A in DFNB3. Two missense mutations in MYO6 (p.C442Y and p.H246R) have been characterized in families of Italian and American Caucasian extraction with autosomal dominant hearing loss, respectively, and the latter was associated with cardiomyopathy in some patients. Three Pakistani families had homozygosity for three MYO6 mutations (c.36insT, p.R1166X, and p.E216V, respectively), and was in one instance associated with retinal degeneration. In the present study, we linked autosomal dominant hearing loss in a large Danish family to a 38.9 Mb interval overlapping with the DFNA22/DFNB37 locus on chromosome 6q13. A novel nonsense mutation in MYO6 exon 25 (c.2545C > T; p.R849X) was identified in the family. The mutation co‐segregated with the disease and the mutant allele is predicted to encode a truncated protein lacking the coiled‐coil and globular tail domains. These domains are hypothesized to be essential for targeting myosin VI to its cellular compartments. No other system was involved indicating nonsyndromic loss. In conclusion, a novel nonsense MYO6 mutation causes post‐lingual, slowly progressive autosomal dominant nonsyndromic moderate to severe hearing loss in a Danish family. © 2008 Wiley‐Liss, Inc.
Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation
Authors: Caselli Rossella , Mencarelli Maria Antonietta , Papa Filomena Tiziana , Ariani Francesca , Longo Ilaria , Meloni Ilaria , Vonella Giuseppina , Acampa Maurizio , Auteri Alberto , Vicari Stefano , Orsi Alessandra , Hayek Giuseppe , Renieri Alessandra , Mari Francesca 
Published: March 2008

AbstractTerminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with routine subtelomeric MLPA analysis. Deletions affecting a more proximal part of 7q36, namely bands 7q36.1q36.2 are less common, and may be missed by subtelomeric MLPA analysis. We report a 9‐year‐old girl with a 5.27 Mb deletion in 7q36.1q36.2, and compare her to literature patients proposing a phenotype characterized by mental retardation, unusual facial features, renal hypoplasia and long QT syndrome due to loss of the KCNH2 gene. These characteristics are sufficiently distinct that the syndrome may be diagnosed on clinical grounds. © 2008 Wiley‐Liss, Inc.
Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003
Authors: Crider Krista S. , Olney Richard S. , Cragan Janet D. 
Published: March 2008

AbstractIn recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies 13 and 18. We examined the prevalence and characteristics of these conditions using 1994–2003 data from a population‐based surveillance system, the Metropolitan Atlanta Congenital Defects Program. Including fetal deaths and elective terminations increased the number of affected pregnancies by 58.7% for trisomy 13 and 72.2% for trisomy 18. Prenatal cytogenetic testing was reported in 70.8% of trisomy 13 cases and 76.1% of trisomy 18 cases. Among those with prenatal cytogenetic tests, 60.8% of trisomy 13 and 59.7% of trisomy 18 cases were electively terminated. Compared with non‐Hispanic whites, non‐Hispanic black race was associated with a decreased frequency of prenatal cytogenetic testing for both trisomy 13 and trisomy 18 (OR 0.24, 95% CI: 0.08–0.78 and OR 0.32, 95% CI: 0.14–0.69, respectively). The reported rates of prenatal cytogenetic testing remained stable throughout the period. As expected, maternal age ≥35 years was a risk factor for both conditions. However, while 67.1% (n = 55) of the trisomy 18 case mothers were ≥35 years, only 46.9% (n = 15) of the trisomy 13 case mothers were ≥35 years. Among live‐born infants, the sex ratio among trisomy 18 infants showed an increased proportion of females: 60.4% female versus 39.6% male. However, the proportion was 48.3% female and 51.7% male among fetuses that were electively terminated in the second trimester. Inclusion of pregnancies that are prenatally diagnosed is critical for accurate surveillance and population‐based analyses of these conditions. Published 2008 Wiley‐Liss, Inc.
Properties of waterborne nanoscale pigment red 122 dispersion prepared by phase separation method
Authors: Shao‐Hai Fu , Kuan‐Jun Fang 
Published: March 2008

AbstractWaterborne nanoscale pigment red 122 dispersions were prepared by phase separation method and milling method with dispersant, respectively. The properties of these dispersions were studied and compared, and also, the encapsulation process was investigated. It was found that the pigment dispersion prepared by phase separation method had higher stability, smaller particle size, and narrower particle size distribution than those milling method with dispersant. The apparent viscosity of pigment dispersion prepared by phase separation method was lower than that prepared by milling method with dispersant when the weight ratio of styrene‐maleic acid copolymer (PSMA) to pigment is below 14%. The change of contact angle indicated that the wettability of encapsulated pigment was greatly improved. On the basis of our results, a schematic representation was given for the illustration of the whole encapsulation process. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci 2008
Two homologous parasitism‐specific proteins encoded in Cotesia plutellae bracovirus and their expression profiles in parasitized Plutella xylostella
Authors: Lee Sunyoung , Kim Yonggyun 
Published: March 2008

AbstractA wasp, Cotesia plutellae, parasitizes the diamondback moth, Plutella xylostella, and interrupts host physiology for wasp survival and development. Identification of parasitism‐specific factors would be helpful to understand the host–parasitoid interaction. This study focused on identification of a 15‐kDa protein found only in plasma of the parasitized P. xylostella. Degenerate primers were designed after N‐terminal amino acid sequencing of the parasitism‐specific protein and used to clone the corresponding gene from the parasitized P. xylostella by a nested reverse transcriptase‐polymerase chain reaction (RT‐PCR). Two homologous genes were cloned and identified as “CpBV15α” and “CpBV15β,” respectively, due to the identical size (158 amino acid residues) of the predicted open reading frames, in which they shared amino acid sequences in both terminal regions, but varied in internal sequences. Southern hybridization analysis indicated that both genes were located on C. plutellae bracovirus genome. Real‐time quantitative RT‐PCR revealed that both genes were mostly expressed at the late parasitization period, which was further confirmed by an immunoblotting assay using CpBV15 antibody. A recombinant CpBV15 protein was produced from Sf9 cells via a baculovirus expression system. The purified CpBV15 protein could enter hemocytes of P. xylostella and were localized in the cytosol. Along with the sequence similarities of CpBV15s with eukaryotic initiation factors, their putative biological role has been discussed in terms of the host translation inhibitory factor. Arch. Insect Biochem. Physiol. 67:157–171, 2008. © 2008 Wiley‐Liss, Inc.
Bracovirus gene products are highly divergent from insect proteins
Authors: Bézier Annie , Herbinière Juline , Serbielle Céline , Lesobre Jérome , Wincker Patrick , Huguet Elisabeth , Drezen Jean‐Michel 
Published: March 2008

AbstractRecently, several polydnavirus (PDV) genomes have been completely sequenced. The dsDNA circles enclosed in virus particles and injected by wasps into caterpillars appear to mainly encode virulence factors potentially involved in altering host immunity and/or development, thereby allowing the survival of the parasitoid larvae within the host tissues. Parasitoid wasps generally inject virulence factors produced in the venom gland. As PDV genomes are inherited vertically by wasps through a proviral form, wasp virulence genes may have been transferred to this chromosomal form, leading to their incorporation into virus particles. Indeed, many gene products from Cotesia congregata bracovirus (CcBV), such as PTPs, IκB‐like, and cystatins, contain protein domains conserved in metazoans. Surprisingly however, CcBV virulence gene products are not more closely related to insect proteins than to human proteins. To determine whether the distance between CcBV and insect proteins is a specific feature of BV proteins or simply reflects a general high divergence of parasitoid wasp products, which might be due to parasitic lifestyle, we have analyzed the sequences of wasp genes obtained from a cDNA library. Wasp sequences having a high similarity with Apis mellifera genes involved in a variety of biological functions could be identified indicating that the high level of divergence observed for BV products is a hallmark of these viral proteins. We discuss how this divergence might be explained in the context of the current hypotheses on the origin and evolution of wasp‐bracovirus associations. Arch. Insect Biochem. Physiol. 67:172–187, 2008. © 2008 Wiley‐Liss, Inc.
The “street light syndrome”, or how protein taxonomy can bias experimental manipulations
Authors: Markov Gabriel , Lecointre Guillaume , Demeneix Barbara , Laudet Vincent 
Published: March 2008

AbstractIn the genomics era, bioinformatic analysis, especially in non‐model species, facilitates the identification and naming of numerous new proteins, the function of which is then inferred through homology searches. Here, we question certain aspects of these approaches. What are the criteria that permit such a determination? What are their limits? Naming is classifying. We review the different criteria that are used to name a protein and discuss their constraints. We observe that the name given to a protein often introduces a bias for further functional analyses, a bias that is not often taken into account when analysing results. Last but not least, the heterogeneity of criteria used for naming proteins leads to self‐inconsistent or contradictory protein classification that is potentially misleading. Finally, we recommend a wider use of phylogenetic criteria in protein naming. BioEssays 30:349–357, 2008. © 2008 Wiley Periodicals, Inc.
The role of ATF‐2 in oncogenesis
Authors: Vlahopoulos Spiros A. , Logotheti Stella , Mikas Dimitris , Giarika Athina , Gorgoulis Vassilis , Zoumpourlis Vassilis 
Published: March 2008

AbstractActivating Transcription Factor‐2 is a sequence‐specific DNA‐binding protein that belongs to the bZIP family of proteins and plays diverse roles in the mammalian cells. In response to stress stimuli, it activates a variety of gene targets including cyclin A, cyclin D and c‐jun, which are involved in oncogenesis in various tissue types. ATF‐2 expression has been correlated with maintenance of a cancer cell phenotype. However, other studies demonstrate an antiproliferative or apoptotic role for ATF‐2. In this review, we summarize the signaling pathways that activate ATF‐2, as well as its downstream targets. We examine the role of ATF‐2 in carcinogenesis with respect to other bZIP proteins, using data from studies in human cancer cell lines, human tumours and mouse models, and we propose a potential model for its function in carcinogenesis, as well as a theoretical basis for its utility in anticancer drug design. BioEssays 30:314–327, 2008. © 2008 Wiley Periodicals, Inc.
On the development of neural diversity in the brain
Authors: Wilkins Adam S. 
Published: March 2008

AbstractThe FEBS meeting titled “Generating neural diversity in the brain” took place on the island of Capri, from October 13–16. This high‐level workshop was the 20th in a symposium series organized by the IGB (Instituto Genetica et Biophysica) of Naples funded by international agencies including FEBS, EMBO, European commission. The series is unusual in featuring first‐rank international scientist speakers for a meeting whose audience consists primarily of students and post‐docs. The endeavour is thus more explicitly educational than many major meetings and the young audience helps create a lively atmosphere. With intense morning and evening sessions, the afternoons are left free for the participants to explore the island, go swimming or relax. BioEssays 30:397–399, 2008. © 2008 Wiley Periodicals, Inc.
Production and characterization of pharmacologically active recombinant human phosphodiesterase 4B in Dictyostelium discoideum
Authors: Arya Ranjana , Aslam Saima , Gupta Shivani , Bora Roop Singh , Vijayakrishnan Lalitha , Gulati Pankaj , Naithani Sudha , Mukherjee Shohini , Dastidar Sunanda , Bhattacharya Alok , Saini Kulvinder Singh 
Published: March 2008

AbstractPhosphodiesterase 4B (PDE4B) is an important therapeutic target for asthma and chronic obstructive pulmonary disease. To identify PDE4 subtype‐specific compounds using high‐throughput assays, full‐length recombinant PDE4 proteins are needed in bulk quantity. In the present study, full‐length human PDE4B2 was expressed in the cellular slime mould Dictyostelium discoideum (Dd). A cell density of 2 x 107 cells/mL was obtained and up to 1 mg/L recombinant PDE4B2 was purified through Ni‐NTA affinity chromatography. The expressed protein was soluble and its activity was comparable to PDE4B2 protein expressed in mammalian cells (Km=1.7 μM). The functional significance of the Dd expression system is supported by the demonstration that, in concert with proteins expressed in mammalian systems, there are no major changes in the affinity for PDE4B2 inhibitors and substrates. These findings thus provide the first evidence that Dd can be utilized for the expression and purification of functionally active full‐length human PDE4B2 in large amounts required for high‐throughput screening of pharmacologically active compounds against this therapeutic target.
The effects of rosiglitazone on oxidative stress and lipid profile in left ventricular muscles of diabetic rats
Authors: Kavak Servet , Ayaz Lokman , Emre Mustafa , Inal Tamer , Tamer Lülüfer , Günay Ismail 
Published: March 2008

AbstractWe investigated the effect of rosiglitazone (RSG), a high‐affinity ligand for the peroxisome proliferator‐activated receptor gamma which mediates insulin‐sensitizing actions, on the lipid profile and oxidative status in streptozotocin (STZ)‐induced Type 2 diabetes mellitus (DM) rats. Wistar albino male rats were randomly divided into an untreated control group (C), a C + RSG group which was treated with RSG (4 mg kg−1) two times a day by gavage, a diabetic group (D) that was treated with a single intraperitoneal injection of STZ (45 mgkg−1), D + RSG group which were treated with RSG two times a day by gavage, respectively. Lipid profiles, HbA1cand blood glucose levels in the circulation and malondialdehyde (MDA) and 3‐nitrotyrosine (3‐NT) levels in left ventricular muscle were measured. Treatment of D rats with RSG resulted in a time‐dependent decrease in blood glucose. We found that the lipid profile and HbA1clevels in D + RSG group reached the C rat values at the end of the treatment period. There was a statistically significant difference between the C + RSG and C groups in 3‐NT levels. In group D, 3‐NT and MDA levels were found to be increased when compared with C, C + RSG and D + RSG groups. In the D + RSG group, MDA levels were found to be decreased when compared with C and C + RSG. Our study suggests that the treatment of D rats with RSG for 8 weeks may decrease the oxidative/nitrosative stress in left ventricular tissue of rats. Thus in diabetes‐related vascular diseases, RSG treatment may be cardioprotective. Copyright © 2008 John Wiley & Sons, Ltd.
The effects of translation and sex on hypnotizability testing
Authors: Cardeña Etzel , Kallio Sakari , Terhune Devin B. , Buratti Sandra , Lööf Angelica 
Published: March 2008

AbstractThe above article (DOI: 10.1002/ch.340) was published in Volume 24, Issue 4, Pages 154–160.The authors of this paper stated that they had used the Inventory Scale of Hypnotic Depth (ISHD; Field, 1965) in this research when in fact they used the Subjective Experiences Scale (SES) for the HGSHS:A (Kirsch, Council, & Wickless, 1990). Thus the reader should substitute the SES for the ISHD.Otherwise, the statistics, analyses, and conclusions remain the same
The Mystery of Perpendicular Fivefold Axes and the Fourth Dimension in Intermetallic Structures
Authors: Berger Robert F. , Lee Stephen , Johnson Jeffreys , Nebgen Ben , Sha Fernando , Xu Jiaqi 
Published: March 2008

AbstractThe structures of eight related known intermetallic structure types are the impetus to this paper: Li21Si5, Mg44Rh7, Zn13(Fe,Ni)2, Mg6Pd, Na6Tl, Zn91Ir11, Li13Na29Ba19, and Al69Ta39. All belong to the F$\bar 4$3m space group, have roughly 400 atoms in their cubic unit cells, are built up at least partially from the γ‐brass structure, and exhibit pseudo‐tenfold symmetric diffraction patterns. These pseudo‐tenfold axes lie in the 〈1 1 0〉 directions, and thus present a paradox. The 〈1 1 0〉 set is comprised of three pairs of perpendicular directions. Yet no 3D point group contains a single pair of perpendicular fivefold axes (by Friedel's Law, a fivefold axis leads to a tenfold diffraction pattern). The current work seeks to resolve this paradox. Its resolution is based on the largest of all 4D Platonic solids, the 600‐cell. We first review the 600‐cell, building an intuition discussing 4D polyhedroids (4D polytopes). We then show that the positions of common atoms in the F$\bar 4$3m structures lie close to the positions of vertices in a 3D projection of the 600‐cell. For this purpose, we develop a projection method that we call intermediate projection. The introduction of the 600‐cell resolves the above paradox. This 4D Platonic solid contains numerous orthogonal fivefold rotations. The six fivefold directions that are best preserved after projection prove to lie along the 〈1 1 0〉 directions of the F$\bar 4$3m structures. Finally, this paper shows that at certain ideal projected cluster sizes related to one another by the golden mean (τ=(1+√5)/2), constructive interference leading to tenfold diffraction patterns is optimized. It is these optimal values that predominate in actual F$\bar 4$3m structures. Explicit comparison of experimental cluster sizes and theoretically derived cluster sizes shows a clear correspondence, both for isolated and crystalline pairs of projected 600‐cells.
pH‐Triggered Dethreading–Rethreading and Switching of Cucurbit[6]uril on Bistable [3]Pseudorotaxanes and [3]Rotaxanes
Authors: Tuncel Dönüs , Katterle Martin 
Published: March 2008

AbstractA series of water‐soluble [3]rotaxanes‐(n+2) and [3]pseudorotaxanes‐(n+2) with short (propyl, n=1) and long (dodecyl, n=10) aliphatic spacers have been prepared in high yields by a 1,3‐dipolar cycloaddition reaction catalyzed by cucurbit[6]uril (CB6). The pH‐triggered dethreading and rethreading of CB6 on these pseudorotaxanes was monitored by 1H NMR spectroscopy. A previously reported [3]rotaxane‐12 that is known to behave as a bistable molecular switch has two recognition sites for CB6, that is, the diaminotriazole moieties and the dodecyl spacer. By changing the pH of the system, it is possible to observe more than one state in the shuttling process. At low pH values both CB6 units are located on the diaminotriazole moieties owing to an ion–dipole interaction, whereas at high pH values both of the CB6 units are located on the hydrophobic dodecyl spacer. Surprisingly, the CB6 units shuttle back to their initial state very slowly after reprotonation of the axle. Even after eighteen days at room temperature, only about 50 % of the CB6 units had relocated back onto the diaminotriazole moieties. The rate constants for the shuttling processes were measured as a function of temperature over the range from 313 to 333 K and the activation parameters (enthalpy, entropy, and free energy) were calculated by using the Eyring equation. The results indicate that this [3]rotaxane behaves as a kinetically controlled molecular switch. The switching properties of [3]rotaxane‐3 have also been studied. However, even under extreme pH conditions this rotaxane has not shown any switching action, which confirms that the propyl spacer is too short to accommodate CB6 units.
Prognostic factors for high‐risk early‐stage epithelial ovarian cancer
Authors: Chan John K. , Tian Chunqiao , Monk Bradley J. , Herzog Thomas , Kapp Daniel S. , Bell Jeffrey , Young Robert C. 
Published: March 2008

AbstractBACKGROUND.The purpose was to identify the factors predictive of recurrence and survival in patients with high‐risk (stage I, grade 3; stage IC, stage II, or clear cell) epithelial ovarian cancer after adjuvant therapy.METHODS.Data was extracted from patients who underwent primary surgery followed by adjuvant therapy in 2 randomized trials by the Gynecologic Oncology Group (Protocols 95 and 157). Kaplan‐Meier survival estimates and Cox proportional hazards model adjusted for covariates were used for analyses.RESULTS.Of 506 patients (median age = 56.2 years), 347 (68.6%) had stage I and 159 (31.4%) had stage II cancers. The 5‐year recurrence‐free (RFS) and overall survivals (OS) were 75.5% and 81.7%, respectively. On multivariate analysis, older age, higher stage, higher grade, and malignant cytology were independent prognostic factors predictive for recurrence and poorer survival. The risk of recurrence was higher for those ≥60 versus < 60 years (hazards ratio [HR] = 1.57, 95% confidence interval [CI], 1.12–2.19), stage II (stage II: HR = 2.70, 95% CI, 1.41–5.16) versus stage IA or IB, grade 2 (HR = 1.84, 95% CI, 1.04–3.27) and grade 3 (HR = 2.47, 95% CI, 1.39–4.37) versus grade 1, and positive versus negative cytology (HR = 1.72, 95% CI, 1.21–2.45). By using these factors in a prognostic index, those with low‐risk (no or 1 risk factor), intermediate‐risk (2 factors), and high‐risk (3–4 risk factors) disease had survivals of 88%, 82%, and 75%, respectively (P < .05).CONCLUSIONS.Age, stage, grade, and cytology are important prognostic factors in high‐risk early‐stage epithelial ovarian cancer. This information may be used in the design of future clinical trials. Cancer 2008. © 2008 American Cancer Society.