bluuebunny/crossref_metadata_2025_split huggingface dataset:
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples
Authors: Talkowski Michael E. , McClain Lora , Allen Trina , Bradford L. DiAnne , Calkins Monica , Edwards Neil , Georgieva Lyudmila , Go Rodney , Gur Ruben , Gur Raquel , Kirov George , Chowdari Kodavali , Kwentus Joseph , Lyons Paul , Mansour Hader , McEvoy Joseph , O'Donovan Michael C. , O'Jile Judith , Owen Michael J. , Santos Alberto , Savage Robert , Toncheva Draga , Vockley Gerard , Wood Joel , Devlin Bernie , Nimgaonkar Vishwajit L. 
Published: October 2008

AbstractRecessive mutations in the phenylalanine hydroxylase (PAH) gene predispose to phenylketonuria (PKU) in conjunction with dietary exposure to phenylalanine. Previous studies have suggested PAH variations could confer risk for schizophrenia, but comprehensive follow‐up has not been reported. We analyzed 15 common PAH “tag” SNPs and three exonic variations that are rare in Caucasians but common in African‐Americans among four independent samples (total n = 5,414). The samples included two US Caucasian cohorts (260 trios, 230 independent cases, 474 controls), Bulgarian families (659 trios), and an African‐American sample (464 families, 401 controls). Analyses of both US Caucasian samples revealed associations with five SNPs; most notably the common allele (G) of rs1522305 from case–control analyses (z = 2.99, P = 0.006). This SNP was independently replicated in the Bulgarian cohort (z = 2.39, P = 0.015). A non‐significant trend was also observed among African‐American families (z = 1.39, P = 0.165), and combined analyses of all four samples were significant (rs1522305: χ2 = 23.28, 8 d.f., P = 0.003). Results for rs1522305 met our a priori criteria for statistical significance, namely an association that was robust to multiple testing correction in one sample, a replicated risk allele in multiple samples, and combined analyses that were nominally significant. Case–control results in African‐Americans detected an association with L321L (P = 0.047, OR = 1.46). Our analyses suggest several associations at PAH, with consistent evidence for rs1522305. Further analyses, including additional variations and environmental influences such as phenylalanine exposure are warranted. © 2008 Wiley‐Liss, Inc.
Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: A preliminary study
Authors: Biederman Joseph , Kim Jang Woo , Doyle Alysa E. , Mick Eric , Fagerness Jesen , Smoller Jordan W. , Faraone Stephen V. 
Published: October 2008

AbstractA growing body of literature finds gender differences in ADHD. However, little is known about the causes of these differences. One possibility is that ADHD risk genes have sexually dimorphic effects. We have investigated four ADHD candidate genes (COMT, SLC6A2, MAOA, SLC6A4) for which there is evidence of sexually dimorphic effects. Past neurobiological and genetic studies suggest that COMT, and SLC6A4 variants may have a greater influence on males and that SLC6A2, and MAOA variants may have a greater influence on females. Our results indicate that genetic associations are stronger when stratified by sex and in the same direction as the previous neurobiological studies indicate: associations were stronger in males for COMT, SLC6A4 and stronger in females for SLC6A2, MAOA. Moreover, we found a statistically significant gender effect in the case of COMT (P = 0.007) when we pooled our work with a prior study. In conclusion, we have found some evidence suggesting that the genetic association for these genes with ADHD may be influenced by the sex of the affected individual. Although our results are not fully validated yet, they should motivate further investigation of gender effects in ADHD genetic association studies. © 2008 Wiley‐Liss, Inc.
A comparison of molecular alterations in environmental and genetic rat models of ADHD: A pilot study
Authors: DasBanerjee Tania , Middleton Frank A. , Berger David F. , Lombardo John P. , Sagvolden Terje , Faraone Stephen V. 
Published: October 2008

AbstractAttention deficit hyperactivity disorder (ADHD) is the most common neurobehavioral disorder in school‐aged children. In addition to genetic factors, environmental influences or gene × environmental interactions also play an important role in ADHD. One example of a well studied environmental risk factor for ADHD is exposure to polychlorinated biphenyls (PCBs). In this study, we investigated whether the well‐established genetic model of ADHD based on the spontaneously hypertensive rat (SHR) and a well established PCB‐based model of ADHDexhibitedsimilar molecular changes in brain circuits involved in ADHD. The brains from 28 male rats (8 SHR, 8 Sprague–Dawley (SD) controls, 8 Wistar/Kyoto (WKY) controls, and 4 PCB‐exposed SD rats) were harvested at postnatal days (PNDs) 55–65 and RNA was isolated from six brain regions of interest. The RNA was analyzed for differences in expression of a set of 308 probe sets interrogating 218 unique genes considered highly relevant to ADHD or epigenetic gene regulation using the Rat RAE230 2.0 GeneChip (Affymetrix). Selected observations were confirmed by real‐time quantitative RT‐PCR. The results show that the expression levels of genes Gnal, COMT, Adrbk1, Ntrk2, Hk1, Syt11, and Csnk1a1 were altered in both the SHR rats and the PCB‐exposed SD rats. Arrb2, Stx12, Aqp6, Syt1, Ddc, and Pgk1 expression levels were changed only in the PCB‐exposed SD rats. Genes with altered expression only in the SHRs included Oprm1, Calcyon, Calmodulin, Lhx1, and Hes6. The epigenetic genes Crebbp, Mecp2, and Hdac5 are significantly altered in both models. The data provide strong evidence that genes and environment can affect different set of genes in two different models of ADHD and yet result in the similar disease‐like symptoms. © 2008 Wiley‐Liss, Inc.
Biofuels and Biomass‐To‐Liquid Fuels in the Biorefinery: Catalytic Conversion of Lignocellulosic Biomass using Porous Materials
Authors: Stöcker Michael 
Published: October 2008

AbstractAt a time when the focus is on global warming, CO2 emission, secure energy supply, and less consumption of fossil‐based fuels, the use of renewable energy resources is essential. Various biomass resources are discussed that can deliver fuels, chemicals, and energy products. The focus is on the catalytic conversion of biomass from wood. The challenges involved in the processing of lignocellulose‐rich materials will be highlighted, along with the application of porous materials as catalysts for the biomass‐to‐liquids (BTL) fuels in biorefineries. The mechanistic understanding of the complex reactions that take place, the development of catalysts and processes, and the product spectrum that is envisaged will be discussed, along with a sustainable concept for biorefineries based on lignocellulose. Finally, the current situation with respect to upgrading of the process technology (pilot and commercial units) will be addressed.
The influence of heat treatment on the properties of shape memory fibers. II. Tensile properties, dimensional stability, recovery force relaxation, and thermomechanical cyclic properties
Authors: Meng Qinghao , Hu Jinlian , Yeung Lap Yan , Hu Yang 
Published: October 2008

AbstractShape memory fibers (SMFs) were prepared via a melt spinning process. The fibers were subject to different heat treatments to eliminate internal stress and structure deficiency caused during the melt spinning process. The influences of heat treatments on the SMF thermal properties, molecular orientation, tensile properties, dimensional stability, recovery force relaxation, and thermomechanical cyclic properties were studied. It was found that the heat treatments increased soft segment crystallinity and phase separation while decreased molecular orientation. The low‐temperature heat treatment increased the breaking elongation, shape fixity ratios, and decreased boiling water shrinkage while shape recovery ratios were decreased. High‐temperature treatment increased both the shape recovery ratios, fixity ratios, recovery stress stability and at the same time decreasing the fiber mechanical strength. The results from differential scanning calorimetry, molecular orientation apparatus, and cyclic tensile testing were used to illustrate the mechanism governing the mechanical properties and shape memory effect. To obtain comprehensive outstanding properties, the SMF is expected to be treated at a high temperature because of the hard segment high glass transition temperature. Unfortunately, the heat treatment could not be conducted at a too high temperature because the SMF became too tacky and soft due to the melting of the soft segment phase. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein‐1, a potential neural tube defect risk factor
Authors: Lu Zhi‐Yong , Morales Megan , Khartulyari Stephanie , Mei Minghua , Murphy Kristen M. , Stanislawska‐Sachadyn Anna , Summers Carolyn M. , Huang Yuehua , Von Feldt Joan M. , Blair Ian A. , Mitchell Laura E. , Whitehead Alexander S. 
Published: October 2008

AbstractBACKGROUND:Women with the AA genotype at the (−2518)A>G promoter polymorphism of CCL‐2, which encodes the potent pro‐inflammatory chemokine monocyte chemoattractant protein 1 (MCP‐1), may be at increased risk for having offspring affected by spina bifida. As the A allele at this locus has been associated with decreased transcription of MCP‐1 mRNA relative to the G allele, the observed genetic association suggests that the risk of spina bifida may be increased in the offspring of women with low MCP‐1 levels. The present study was undertaken to identify potential determinants of MCP‐1 levels in women of reproductive age.METHODS:A small cohort of Caucasian and African‐American women of reproductive age was recruited to participate in an exploratory investigation of the determinants of several disease‐related, biochemical phenotypes, including MCP‐1. Subjects completed a brief questionnaire and provided a fasting blood sample for biochemical and genetic studies. Potential biochemical, genetic, and lifestyle factors were assessed for their association with MCP‐1 levels using linear regression analyses.RESULTS:In this cohort, MCP‐1 levels were significantly higher in Caucasians as compared to African‐Americans. Further, among women of both races, there was evidence that MCP‐1 levels were associated with smoking status, MTHFR 677C>T genotype, and red blood cell tetrahydrofolate levels.CONCLUSIONS:The results of these analyses indicate that, if maternal CCL‐2 genotype is related to the risk of spina bifida, this relationship is likely to be more complex than initially hypothesized, perhaps depending upon folate intake, MTHFR 677C>T genotype, the distribution of folate derivatives, and immune/inflammatory activity. Birth Defects Research (Part A) 82:736–741, 2008. © 2008 Wiley‐Liss, Inc.
Further evidence for a maternal genetic effect and a sex‐influenced effect contributing to risk for human neural tube defects
Authors: Deak Kristen L. , Siegel Deborah G. , George Timothy M. , Gregory Simon , Ashley‐Koch Allison , Speer Marcy C. ,   the NTD Collaborative Group
Published: October 2008

AbstractBACKGROUND:Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family‐based studies can be useful for identifying such risk factors.METHODS:We ascertained 1066 NTD families (1467 affected patients), including 307 multiplex NTD families. We performed pedigree analysis to describe the inheritance patterns, pregnancy outcomes, and recurrence risks to relatives of various types.RESULTS:Myelomeningocele or spina bifida (66.9%) and cranial defects (17.7%) were the most common NTD subtypes observed. The overall male:female ratio for affected individuals was 0.82, and there were even fewer males among individuals with an upper level NTD (0.62). Among twins, 2 of the 5 monozygotic twins and only 3 of 35 dizygotic twins were concordant, while 27% of the same sex twins were concordant, but none of the different sex twins. The estimated 6.3% recurrence risk to siblings (CI 0.04–0.08) is consistent with previous reports. Families with two or more affected individuals show a higher proportion of female transmitters (p = 0.0002). Additionally, the number of affected relatives in maternal compared to paternal lineages was more than double (p = 0.006). There were significantly more miscarriages, infant deaths, and stillborn pregnancies of the maternal aunts and uncles (p < 0.0001) and of first cousins (p = 0.04).CONCLUSIONS:Our data provide several lines of evidence consistent with a maternal effect, as well as a sex‐influenced effect, in the etiology of NTDs. Birth Defects Research (Part A) 82:662–669, 2008. © 2008 Wiley‐Liss, Inc.
FDTD assessment of human exposure to electromagnetic fields from WiFi and bluetooth devices in some operating situations
Authors: Martínez‐Búrdalo M. , Martín A. , Sanchis A. , Villar R. 
Published: October 2008

AbstractIn this work, the numerical dosimetry in human exposure to the electromagnetic fields from antennas of wireless devices, such as those of wireless local area networks (WLAN) access points or phone and computer peripherals with Bluetooth antennas, is analyzed with the objective of assessing guidelines compliance. Several geometrical configurations are considered to simulate possible exposure situations of a person to the fields from WLAN or Bluetooth antennas operating at 2400 MHz. The exposure to radiation from two sources of different frequencies when using a 1800 MHz GSM mobile phone connected via Bluetooth with a hands‐free car kit is also considered. The finite‐difference time‐domain (FDTD) method is used to calculate electric and magnetic field values in the vicinity of the antennas and specific absorption rates (SAR) in a high‐resolution model of the human head and torso, to be compared with the limits from the guidelines (reference levels and basic restrictions, respectively). Results show that the exposure levels in worst‐case situations studied are lower than those obtained when analyzing the exposure to mobile phones, as could be expected because of the low power of the signals and the distance between the human and the antennas, with both field and SAR values being far below the limits established by the guidelines, even when considering the combined exposure to both a GSM and a Bluetooth antenna. Bioelectromagnetics 30:142–151, 2009. © 2008 Wiley‐Liss, Inc.
The dynamics of synaptic scaffolds
Authors: Specht Christian G. , Triller Antoine 
Published: October 2008

AbstractComplex functions of the central nervous system such as learning and memory are believed to result from the modulation of the synaptic transmission between neurons. The sequence of events leading to the fusion of synaptic vesicles at the presynaptic active zone and the detection of this signal at the postsynaptic density involve the activity of ion channels and neurotransmitter receptors. Their accumulation and dynamic exchange at synapses are dependent on their interaction with synaptic scaffolds. These are synaptic structures composed of adaptor proteins that provide binding sites for receptors and channels as well as other synaptic proteins. While in its entirety the synaptic scaffold is a relatively stable structure, individual adaptor proteins exchange at a fast time scale. These properties of scaffolds help to ensure the stability of synaptic transmission while permitting the modulation of synaptic strength. Here, we review the dynamics of the synaptic scaffold and of adaptor proteins in relation to their roles in the organisation of the synapse as well as in the clustering and trafficking of receptor proteins. BioEssays 30:1062–1074, 2008. © 2008 Wiley Periodicals, Inc.
The social evolution of somatic fusion
Authors: Aanen Duur K. , Debets Alfons J.M. , de Visser J. Arjan G.M. , Hoekstra Rolf F. 
Published: October 2008

AbstractThe widespread potential for somatic fusion among different conspecific multicellular individuals suggests that such fusion is adaptive. However, because recognition of non‐kin (allorecognition) usually leads to a rejection response, successful somatic fusion is limited to close kin. This is consistent with kin‐selection theory, which predicts that the potential cost of fusion and the potential for somatic parasitism decrease with increasing relatedness. Paradoxically, however, Crozier1 found that, in the short term, positive‐frequency‐dependent selection eliminates the required genetic polymorphism at allorecognition loci. The ‘Crozier paradox’ may be solved if allorecognition is based on extrinsically balanced polymorphisms, for example at immune loci. Alternatively, the assumption of most models that self fusion is mutually beneficial is wrong. If fusion is on average harmful, selection will promote unconditional rejection. However, we propose that fusion within individuals is beneficial, selecting for the ability to fuse, but fusion between individuals on average costly, selecting for non‐self recognition (rather than non‐kin recognition). We discuss experimental data on fungi that are consistent with this hypothesis. BioEssays 30:1193–1203, 2008. © 2008 Wiley Periodicals, Inc.
An even “newer” animal phylogeny
Authors: DeSalle Rob , Schierwater Bernd 
Published: October 2008

AbstractMetazoa are one of the great monophyletic groups of organisms. They comprise several major groups of organisms readily recognizable based on their anatomy. These major groups include the Bilateria (animals with bilateral symmetry), Cnidaria (jellyfish, corals and other closely related animals), Porifera (sponges), Ctenophores (comb jellies) and a phylum currently made up of a single species, the Placozoa. Attempts to systematize the relationships of these major groups as well as to determine relationships within the groups have been made for nearly two centuries. Many of the attempts have led to frustration, because of a lack of resolution between and within groups. Other attempts have led to “a new animal phylogeny”. Now, a study by Dunn et al.,1 using the expresssed sequence tag (EST) approach to obtaining high‐throughput large phylogenetic matrices, presents an “even newer” animal phylogeny. There are two major aspects of this study that should be of interest to the general biological community. First, the methods used by the authors to generate their phylogenetic hypotheses call for close examination. Second, the relationships of animal taxa in their resultant trees also prompt further discussion. BioEssays 30:1043–1047, 2008. © 2008 Wiley Periodicals, Inc.
Can we use diffusion MRI as a bio‐marker of neurodegenerative processes?
Authors: Assaf Yaniv 
Published: October 2008

AbstractMagnetic resonance imaging (MRI) is an imaging technique with a rapidly expanding application range. This methodology, which relies on quantum physics and substance magnetic properties, is now being routinely used in the clinics and medical research. With the advent of measuring functional brain activity with MRI (functional MRI), this methodology has reached a larger section of the neuroscience community (e.g. psychologists, neurobiologists). In the past, the use of MRI as a biomarker or as an assay to probe tissue pathophysiological condition was limited. However, with the new applications of MRI: molecular imaging, contrast‐enhanced imaging and diffusion imaging, MRI is turning into a powerful tool for in vivo characterization of tissue pathophysiology. This review focuses on the diffusion MRI. Although it only measures the averaged Brownian translational motion of water molecules, using different analysis schemes, one can extract a wide range of quantitative indices that represent tissue morphology and compartmentalization. Statistical and visualization routines help to relate these indices to biologically relevant measures such as cell density, water content and size distribution. The aim of this review is to shed light on the potential of this methodology to be used in biological research. To that end, this review is intended for the non‐MRI specialists who wish to pursue biological research with this methodology. We will overview the current applications of diffusion MRI and its relation to cellular biology of brain tissue. BioEssays 30:1235–1245, 2008. © 2008 Wiley Periodicals, Inc.
Permeability and toxicological profile estimation of organochlorine compounds by biopartitioning micellar chromatography
Authors: Escuder‐Gilabert L. , Villanueva‐Camañas R. M. , Sagrado S. , Medina‐Hernandez M. J. 
Published: October 2008

AbstractThis paper points out the usefulness of biopartitioning micellar chromatography (BMC) as a high‐throughput primary screening tool providing key information about the oral absorption, skin permeability (Kp), brain–blood distribution coefficient (BB) and ecotoxicological parameters such as median lethal concentration (LC50) and bioconcentration factors of 15 organochloride compounds. The retention data of compounds in BMC conditions were interpolated in previously developed quantitative–retention activity relationships by our research group. Results show that the compounds studied readily cross the intestinal barrier (oral absorption >ercnt;) and the blood–brain barrier (log BB >p;0.4). In addition, the organochlorines DDE, chlorobenzene, 1,3‐dichlorobenzene and 1,2‐dichlorobenzene are the compounds which can more quickly cross the skin barrier (log Kp >nus;0.74 cm/h). From a ecotoxicological point of view, it can be concluded that the most retained compounds, DDE, DDD, hexachlorobenzene and dicofol, are the most toxic and bioacumulative. Copyright © 2008 John Wiley & Sons, Ltd.
Ethnic variations in diagnosis, treatment, socioeconomic status, and survival in a large population‐based cohort of elderly patients with non‐Hodgkin lymphoma
Authors: Wang Michael , Burau Keith D. , Fang Shenying , Wang Harry , Du Xianglin L. 
Published: October 2008

AbstractBACKGROUND.There is a lack of research on ethnic disparities in survival among patients with non‐Hodgkin lymphoma (NHL), although these disparities have been documented for patients with many other tumors.METHODS.A retrospective cohort of 13,321 patients diagnosed with incident NHL at age ≥65 years from 1992 to 1999 were identified from the Surveillance, Epidemiology, and End Results (SEER)‐Medicare linked database with 11 years of follow‐up. Of these patients, 11,868 were Caucasians, 533 were African Americans, and 920 were other ethnicities. A time‐to‐event Cox regression model was used to examine the relative risk of all‐cause and disease‐specific mortality.RESULTS.A larger proportion (72.2%) of African Americans were in the poorest quartile of socioeconomic status as measured by the poverty level compared with 21.8% of Caucasians, and 43.2% of African Americans received chemotherapy compared with 52.4% of Caucasians (P < .01). Hazard ratio of all‐cause and NHL‐specific mortality increased significantly with age, advanced stage, higher comorbidity scores, and poorer socioeconomic status. Patients receiving either chemotherapy or radiotherapy or both were significantly less likely to die. After taking into account differences in treatment, comorbidity, and socioeconomic status, there was no statistically significant difference in the risk of all‐cause (hazard ratio, 0.97; 95% confidence interval, 0.88‐1.08) and disease‐specific mortality (hazard ratio, 1.07; 95% confidence interval, 0.92‐1.25) between African Americans and Caucasians.CONCLUSIONS.The risk of mortality in patients with NHL was associated with socioeconomic status and was reduced in patients receiving chemotherapy. No significant differences in the risk of mortality were observed between African Americans and Caucasians after controlling for factors such as treatment and socioeconomic status. Cancer 2008. © 2008 American Cancer Society.