bluuebunny/crossref_metadata_2025_split huggingface dataset:
A coalescent simulation of marker selection strategy for candidate gene association studies
Authors: Cole Suzanne M. , Long Jeffrey C. 
Published: August 2007

AbstractRecent efforts have focused on the challenges of finding alleles that contribute to health‐related phenotypes in genome‐wide association studies. However, in candidate gene studies, where the genomic region of interest is small and recombination is limited, factors that affect the ability to detect disease‐susceptibility alleles remain poorly understood. In particular, it is unclear how varying the number of markers on a haplotype, the type of marker (e.g., single nucleotide polymorphism (SNP), short tandem repeat (STR)), including the causative site (cs) as a genetic marker, or population demographics influences the power to detect a candidate gene. We evaluated the power of association tests using coalescent‐modeled computer simulations. Results show that an effective number of markers on a haplotype is dependent on whether the cs is included as a marker. When the analyses include the cs, highest power is achieved with a single‐marker association test. However, when the cs is excluded from analyses, the addition of more nonfunctional SNPs on the haplotype increases power to a certain point under most scenarios. We find a rapidly expanding population always has lower power compared to a population of constant size; although utilizing markers with a frequency of at least 5% improves the chance of detecting an association. Comparing the mutational properties of a nonfunctional SNP versus an STR, multi‐allelic STRs provide more or comparable power than a bi‐allelic SNP unless SNP frequencies are constrained to 10% or more. Similarly, including an STR with SNPs on a haplotype improves power unless SNP frequencies are 5% or more. © 2007 Wiley‐Liss, Inc.
An association study of RGS4 polymorphisms with clinical phenotypes of schizophrenia in a Chinese population
Authors: So Hon‐Cheong , Chen Ronald Y.L. , Chen Eric Y.H. , Cheung Eric F.C. , Li Tao , Sham Pak C. 
Published: August 2007

AbstractThe regulator of G‐protein signaling 4 (RGS4) has been suggested as a candidate gene for schizophrenia. However, following an initial positive report, subsequent association studies between RGS4 and schizophrenia have yielded inconclusive results. Also, few studies have investigated the association of RGS4 polymorphisms with the phenotypic subgroups of schizophrenia. To further clarify the role of RGS4 in this disease, we performed a case‐control study (504 cases and 531 controls of Han Chinese descent) to examine the association of RGS4 with schizophrenia and with clinical and neurocognitive profiles. The four markers (SNPs 1, 4, 7, and 18) implicated in the original association study were genotyped. We detected significant association of four‐marker haplotypes with schizophrenia (UNPHASED: globalP = 0.037; PHASE: globalP = 0.048). The haplotype G‐G‐G‐G, which was implicated in at least three previous studies, was the major risk haplotype (UNPHASED:P = 0.019; PHASE:P = 0.010). Regarding the clinical phenotypes, the Wechsler Adult Intelligence Test (WAIS) information subtest score was associated with SNP4 genotypes (P = 0.001). PANSS total and global psychopathology scores were also associated with SNP4, but may not reliably reflect the general severity of disease as the scores may be affected by confounders like medication response. Our study provides further support for a role of RGS4 in the pathogenesis of schizophrenia. We identified G‐G‐G‐G as the risk haplotype in our Chinese sample. The association with information subtest score suggests an effect of RGS4 on premorbid functioning, which may be related to neurodevelopmental processes. Further independent studies are required to verify our findings. © 2007 Wiley‐Liss, Inc.
Dissocial behavior, the 5HTTLPR polymorphism, and maltreatment in women with bulimic syndromes
Authors: Steiger Howard , Richardson Jodie , Joober Ridha , Israel Mimi , Bruce Kenneth R. , Ng Ying Kin N.M.K. , Howard Heidi , Anestin Annelie , Dandurand Cathy , Gauvin Lise 
Published: August 2007

AbstractWe recently reported that, among bulimic women, previously abused carriers of the 5HTTLPR S allele showed special propensities towards novelty seeking (implying recklessness or impulsivity) and interpersonal insecurity. We subsequently re‐analyzed our data, to examine the bearing of the 5HTTLPR polymorphism and prior sexual or physical maltreatment upon validated, higher‐order personality‐traits. Ninety women with bulimic syndromes were genotyped for 5HTTLPR “short” (S) and “long” (LG and LA) alleles, and then assessed for eating symptoms, history of sexual or physical abuse, and the higher‐order personality traits Emotional Dysregulation, Dissocial Behavior, Inhibition, and Compulsivity. With a classification based on a biallelic model of 5HTTLPR (i.e., presence or absence of at least one S‐allele copy), multiple regression indicated a significant proportion of variance in Dissocial Behavior to be explained by an abuse × genotype interaction—greater psychopathology occurring in abused S‐allele carriers. A parallel analysis applying a triallelic model of 5HTTLPR (i.e., presence or absence of at least one copy of presumably low‐function S or LG alleles) produced a similar pattern, but no statistically significant effect. The finding that bulimic 5HTTLPR S‐allele carriers who are previously abused display elevations on Dissocial Behavior corroborates previous observations concerning phenomenological correlates of traumatic stress in 5HTTLPR S allele carriers. © 2007 Wiley‐Liss, Inc.
No association between common variants in glyoxalase 1 and autism spectrum disorders
Authors: Rehnström Karola , Ylisaukko‐oja Tero , Vanhala Raija , von Wendt Lennart , Peltonen Leena , Hovatta Iiris 
Published: August 2007

AbstractThe autism spectrum disorders (ASDs) are complex diseases with a strong genetic component. Numerous candidate gene studies have tested association between various functional and positional candidate genes and autism, but no common variation predisposing for autism has been identified to date. It has been previously proposed, that glyoxalase 1 (GLO1) might be involved in the pathogenesis of autism as GLO1 protein polarity was significantly changed in the brains of autism patients compared to controls. GLO1 harbors a functional polymorphism that affects the polarity and the enzymatic activity of the protein. In the same study, this polymorphism showed a suggestive association to autism. To investigate whether common variants in GLO1 predispose to autism in the Finnish population, we have genotyped six polymorphisms in GLO1 in families with more than 230 individuals affected with ASDs and carried out both linkage and association analyses. We did not observe significant linkage or association between any SNP and ASDs. Therefore, we suggest that common variants in GLO1 are not significant susceptibility factors for ASDs in the Finnish population. © 2007 Wiley‐Liss, Inc.
Evidence of normal hearing laterality in familial schizophrenic patients and their relatives
Authors: Toulopoulou Timothea , Chua Siew E. , Lam Isabel , Cheung Vinci , Murray Robin M. , David Anthony S. 
Published: August 2007

AbstractDichotic listening (DL) has been used as a tool to investigate possible left cerebral dysfunction in schizophrenia. However, the wide range of DL tests (e.g., words, emotions, sentences) as well as patient groups (“heterogeneity”) has introduced several confounders. Assessing relatives of patients with schizophrenia may overcome some of these problems, and may be more useful in determining if loss of functional cerebral laterality in schizophrenia is a state or a trait phenomenon. The fused consonant‐vowel DL test was administered to 114 subjects: 20 individuals with familial schizophrenia, 42 of their healthy relatives, and 52 healthy volunteers. We did this to investigate whether the normal language processing asymmetry—a right ear advantage (REA)—is present, and whether it could serve as a marker for genetic liability. General performance accuracy level was lower in schizophrenia patients and their relatives but the expected REA was present in all groups. Adjusting for age, accuracy, and obligate status made no difference. In conclusion, familial schizophrenic patients and their relatives have normal REA and hearing laterality on the fused DL test. © 2007 Wiley‐Liss, Inc.
The ADHD resource: Creation of an online tool for attention deficit hyperactivity disorder information and research
Authors: Martin N.C. 
Published: August 2007

AbstractWith the ever growing quantity of information generated by research into attention deficit hyperactivity disorder (ADHD) and the growth of international cooperation and collaboration, a need has arisen for a simple reference resource. The ADHD Resource was created to be this tool. It has been designed to act as the first point of reference for researchers in the field. It has also been created to facilitate the collaborative effects amongst the research groups. © 2007 Wiley‐Liss, Inc.
Behavioral variation and reproductive success of male baboons (Papio anubis × Papio hamadryas) in a hybrid social group
Authors: Bergman Thore J. , Phillips‐Conroy Jane E. , Jolly Clifford J. 
Published: August 2007

AbstractWe take advantage of an array of hybrid baboons (Papio anubis × Papio hamadryas) living in the same social group to explore the causes and consequences of different male mating strategies. Male hamadryas hold one‐male units and exhibit a sustained, intense interest in adult females, regardless of the latter's reproductive state. Anubis baboons, by contrast, live in multi‐male, multi‐female groups where males compete for females only when the latter are estrous. These two taxa interbreed to form a hybrid zone in the Awash National Park, Ethiopia, where previous work has suggested that hybrid males have intermediate and ineffective behavior. Here, we first examine male mating strategies with respect to morphological and genetic measures of ancestry. We found significant relationships between behavioral measures and morphology; males with more hamadryas‐like morphology had more hamadryas‐like behavior. However, genetic ancestry was not related to behavior, and in both cases intermediates displayed a previously unreported level of behavioral variation. Furthermore, male behavior was unrelated to natal group. Second, we evaluated reproductive success by microsatellite‐based paternity testing. The highest reproductive success was found for individuals exhibiting intermediate behaviors. Moreover, over nine years, some genetically and morphologically intermediate males had high reproductive success. We conclude that the behavior of hybrid males is therefore unlikely to be an absolute barrier to admixture in the region. Am. J. Primatol. 70:136–147, 2008. © 2007 Wiley‐Liss, Inc.
RGD domains neuroprotect the immature brain by a glial‐dependent mechanism
Authors: Peluffo Hugo , González Pau , Arís Anna , Acarin Laia , Saura Josep , Villaverde Antoni , Castellano Bernardo , González Berta 
Published: August 2007

AbstractObjectiveIntegrin binding to extracellular matrix ligands, including those presenting RGD motifs, modulate diverse cellular processes. In the brain, many endogenous RGD‐containing molecules are induced after damage. Previously, the gene therapy vector termed NLSCt, which displays an RGD motif, was shown to neuroprotect after immature brain excitotoxicity. We analyze whether neuroprotection is mediated by the RGD motif.MethodsRGD‐containing synthetic peptide GPenGRGDSPCA (GPen) was injected 2 hours after N‐methyl‐D‐aspartate–mediated excitotoxicity to the postnatal day 9 rat brain. Damage and glial/inflammatory response were evaluated 3 days later. In addition, the neuroprotective effect of GPen and NLSCt after N‐methyl‐D‐aspartate–induced cell death was also analyzed in vitro using neuron‐purified and mixed neuron‐glia primary cultures. To further characterize whether the neuroprotective effect was mediated by glial‐derived soluble factors, we also tested the protective ability of conditioned media from RGD‐treated microglia, astrocyte, or mixed glia cultures.ResultsAnimals treated with GPen peptide showed functional improvement, a significant reduction in lesion volume up to 28%, and a decrease in the number of degenerating neurons. In addition, N‐methyl‐D‐aspartate–injected animals treated with both RGD‐containing molecules at the neuroprotective doses showed a significant increase in microglial reactivity and microglia/macrophage cell number, but no differences in neutrophil infiltration and the astroglial response. Finally, in vitro studies showed that the neuroprotective effect was observed in mixed neuron‐glia, but not in neuron‐purified cultures. Conditioned media from RGD‐treated microglial, astroglial, and mixed‐glial cultures were not protective.InterpretationThese results suggest that RGD‐containing molecules neuroprotect by a glial‐dependent mechanism. Ann Neurol 2007
Mirror neuron system: basic findings and clinical applications
Authors: Iacoboni Marco , Mazziotta John C. 
Published: August 2007

AbstractIn primates, ventral premotor and rostral inferior parietal neurons fire during the execution of hand and mouth actions. Some cells (called mirror neurons) also fire when hand and mouth actions are just observed. Mirror neurons provide a simple neural mechanism for understanding the actions of others. In humans, posterior inferior frontal and rostral inferior parietal areas have mirror properties. These human areas are relevant to imitative learning and social behavior. Indeed, the socially isolating condition of autism is associated with a deficit in mirror neuron areas. Strategies inspired by mirror neuron research recently have been used in the treatment of autism and in motor rehabilitation after stroke. Ann Neurol 2007
An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)
Authors: Salomons Gajja S. , Bok Levinus A. , Struys Eduard A. , Pope Lorna Landegge , Darmin Patricia S. , Mills Philippa B. , Clayton Peter T. , Willemsen Michèl A. , Jakobs Cornelis 
Published: August 2007

AbstractRecently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal‐onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but respond immediately to the administration of pyridoxine (OMIM 266100). Increased plasma and urinary levels of α‐AASA are associated with pathogenic mutations in the α‐AASA dehydrogenase (ALDH7A1/antiquitin) gene. Here, we report an intriguing “silent” mutation in ALDH7A1, a novel missense mutation and a founder mutation in a Dutch cohort (10 patients) with α‐AASA dehydrogenase deficiency. Ann Neurol 2007
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
Authors: Sarzi Emmanuelle , Goffart Steffi , Serre Valérie , Chrétien Dominique , Slama Abdelhamid , Munnich Arnold , Spelbrink Johannes N. , Rötig Agnès 
Published: August 2007

AbstractObjectiveMitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically and genetically heterogeneous group of autosomal recessive diseases characterized by a reduction in mtDNA copy number. Several nuclear genes have been shown to account for these severe oxidative phosphorylation disorders, but the disease‐causing mutations remain largely unknown.MethodsBy virtue of homozygosity mapping, we tested candidate genes involved in mtDNA maintenance in patients born to consanguineous parents.ResultsWe found homozygosity for microsatellite markers flanking the PEO1 gene, encoding the mitochondrial Twinkle helicase, in two sibs presenting a hepatocerebral form of MDS. Sequencing the PEO1 gene showed a homozygous mutation at a conserved position of the protein in the two patients (T457I). The modeling of the Twinkle protein showed that T457 is located in the interface between two monomers of the hexameric enzyme. Finally, using purified recombinant protein, we demonstrated that the T457I mutant Twinkle has a defective helicase activity.InterpretationAlthough dominant Twinkle mutations have been previously reported in patients with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions, we report here the first recessive Twinkle mutation in patients with hepatocerebral form of MDS. Identifying other Twinkle mutations in MDS and/or autosomal dominant progressive external ophthalmoplegia and studying their impact on the isolated proteins should help in understanding why some mutations are recessive and others are dominant. Ann Neurol 2007
Gen‐Stummschaltung durch doppelsträngige RNA (Nobel‐Vortrag)
Authors: Fire Andrew Z. 
Published: August 2007

AbstractIch danke der Nobelversammlung des Karolinska‐Instituts für die Gelegenheit, einige neuere Arbeiten zur RNA‐aktivierten Gen‐Stummschaltung vorstellen zu können. Eines muss ich aber vorausschicken: Die gesamte Geschichte der Gen‐Stummschaltung zu erzählen, wäre ein gigantisches Unternehmen, das den Rahmen dieses Vortrags weit übersteigen würde. Es wird daher nicht zu vermeiden sein, dass ich die Geschichte mehr als nur ein bisschen verkürze. Des Weiteren befinden sich unsere Kenntnisse der Gen‐Stummschaltung noch in den Anfängen, weshalb Sie den Vortrag nur als Einführung in das Thema betrachten sollten – so gut es eben geht an diesem 8. Dezember 2006. Als drittes sollten Sie wissen, dass die Geschichte, die ich erzählen werde, die Arbeiten mehrerer Generationen von Biologen und Chemikern (und sämtlichen Schattierungen dazwischen) zusammenfasst. Ich bin geschmeichelt, dass Arbeiten meiner Forschungsgruppe zu diesem Feld beitragen konnten und dazu geführt haben, dass ich nun hier über diese Entwicklungen berichten darf. Gleichzeitig hoffe ich, dass man unsere bescheidenen Beiträge nicht mit den sehr viel größeren Errungenschaften der RNAi‐Forschungen gleichsetzt.
Gene Silencing by Double‐Stranded RNA (Nobel Lecture)
Authors: Fire Andrew Z. 
Published: August 2007

AbstractI would like to thank the Nobel Assembly of the Karolinska Institute for the opportunity to describe some recent work on RNA‐triggered gene silencing. First a few disclaimers, however. Telling the full story of gene silencing would be a mammoth enterprise that would take me many years to write and would take you well into the night to read. So we'll need to abbreviate the story more than a little. Second (and as you will see) we are only in the dawn of our knowledge; so consider the following to be primer …︁ the best we could do as of December 8th 2006. And third, please understand that the story that I am telling represents the work of several generations of biologists, chemists, and many shades in between. I'm pleased and proud that work from my laboratory has contributed to the field, and that this has led to my being chosen as one of the messengers to relay the story in this forum. At the same time, I hope that there will be no confusion of equating our modest contributions with those of the much grander RNAi enterprise.
Generalization of the effects of solvent–polymer interactions with linear multiparameter equations
Authors: Makitra R. G. , Yevchuk I. Y. , Musiy R. Y. , Prystansky R. E. , Zaikov G. E. 
Published: August 2007

AbstractA quantitative generalization of the indices of swelling process of polymers, containing the nonhydrocarbon groups (polyurethanes, fluoropolymers) in organic solvents, as well as of the process of dissolution of poly(methy1 methacrylate) was successfully realized by means of multiparametric equations, which take into account the solvents capacity for specific and nonspecific solvation of polymers and solvents' molar volumes. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 2007
Preparation of hydroxyapatite/poly(vinyl alcohol) composite fibers by wet spinning and their characterization
Authors: Chung Yong Sik , Kang Sung Il , Kwon Oh Wook , Shin Dong Soo , Lee Se Geun , Shin Eun Joo , Min Byung Gil , Bae Han Jo , Han Sung Soo , Jeon Han Yong , Noh Seok Kyun , Lyoo Won Seok 
Published: August 2007

AbstractTo prepare hydroxyapatite (HA)/poly(vinyl alcohol) (PVA) composite fibers with high processibility applicable to various biomedical fields, HA/PVA composite powders were synthesized through a coprecipitation method and then mixed with pure PVA in dimethyl sulfoxide at 90°C for 2 h to prepare wet‐spinning dopes. HA/PVA solutions with HA contents of 0, 1, 3, 5, 10, and 15 wt % were analyzed with a rheometer to elucidate the effect of HA particles on the shear viscosities of the spinning dopes. The spinning dopes with pure PVA and an HA/PVA concentration of 12 wt % showed non‐Newtonian flow behaviors, and as the HA content increased from 1 to 15 wt %, the shear viscosities increased simultaneously because of the complex formation between PVA chains, citric acid, and HA particles acting as crosslinkers. The increased viscosities of the spinning dopes diminished the breakage of PVA fibers and enhanced the spinnability. Through the addition of citric acid interacting with both PVA and HA particles, the aggregation of HA particles was suppressed, and it was possible to prepare HA/PVA composite fibers with smooth surfaces. An adequate amount of HA in the PVA fibers improved the thermal and mechanical properties of the fibers because uniformly dispersed HA particles interacting with PVA chains through hydrogen bonding in the PVA matrix complemented the structural defects. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 2007
Improvement of the water resistance of atactic poly(vinyl alcohol) nanowebs by a heat treatment
Authors: Lee Sung Jun , Lee Se Geun , Kim Hoyoung , Lyoo Won Seok 
Published: August 2007

AbstractNanoscale materials can be rationally designed to exhibit significantly changed physical, chemical, and biological properties because of the extremely small dimensions. Therefore, atactic poly(vinyl alcohol) (a‐PVA) nanowebs by an electrospinning technique have very high water solubility because of their nanoscale in comparison with microscale materials such as fibers and films. In this study, a‐PVA nanowebs were prepared via electrospinning under suitable conditions to form PVA webs with uniform nanofibers (fiber average diameter = 200 ± 50 nm), not a bead or bead‐and‐string morphology. Furthermore, to improve the water resistance of the water‐soluble a‐PVA nanowebs, the PVA nanowebs were heat‐treated at various heat‐treatment temperatures. The melting temperature of the heat‐treated PVA nanowebs shifted toward a lower temperature with an increase in the heat‐treatment temperature, and this indicated that micronetwork domains formed. Moreover, with the exception of a PVA nanoweb treated at an excessive heat‐treatment temperature, the heat‐treated PVA nanowebs showed higher crystalline and mechanical properties than a pure PVA nanoweb. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 2007