bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic variants in cell cycle control pathway confer susceptibility to bladder cancer
Authors: Ye Yuanqing , Yang Hushan , Grossman H. Barton , Dinney Colin , Wu Xifeng , Gu Jian 
Published: March 2008

AbstractBACKGROUNDCell cycle checkpoint regulation is crucial for the prevention of carcinogenesis in mammalian cells.METHODSTo test the hypothesis that common sequence variants in the cell cycle control pathway may affect bladder cancer susceptibility, the effects of a panel of 10 potential functional single nucleotide polymorphisms (SNPs) from 7 cell cycle control genes, P53, P21, P27, CDK4, CDK6, CCND1, and STK15, were evaluated on bladder cancer risk in a case‐control study of 696 bladder cancer cases and 629 healthy controls.RESULTSOverall, on individual SNP analysis only individuals with the p53 intron 3 16‐bp duplication polymorphism variant allele had a significantly reduced bladder cancer risk (odds ratio [OR] = 0.74, 95% confidence interval [CI], 0.56–0.96). This effect was more evident in former smokers and younger subjects. We then applied the Classification and Regression Tree (CART) statistical approach to explore the high‐order gene‐gene and gene‐smoking interactions. In the CART analysis, smoking status was identified as the most influential factor for bladder cancer susceptibility. The final decision tree by CART contained 6 terminal nodes. Compared with the second‐lowest risk group the ORs for terminal nodes 1 and 3 to 6 ranged from 0.46 to 6.30.CONCLUSIONSThese results suggest that cell cycle genetic polymorphisms may affect bladder cancer predisposition through modulation of host genome stability and confirm the importance of studying gene‐gene and gene‐environment interactions in bladder cancer risk assessment. Cancer 2008. © 2008 American Cancer Society.
Corpus callosum connections of subdivisions of motor and premotor cortex, and frontal eye field in a prosimian primate, Otolemur garnetti
Authors: Fang Pei‐Chun , Stepniewska Iwona , Kaas Jon H. 
Published: March 2008

AbstractThe callosal connections of motor and premotor fields in the frontal cortex of galagos were examined by placing multiple tracers into the primary motor area (M1), dorsal premotor area (PMD), ventral premotor area (PMV), supplementary motor area (SMA), and frontal eye field (FEF) following intracortical microstimulation. Retrogradely labeled neurons in the opposite hemisphere were plotted and superimposed onto brain sections stained with myelin and cytochrome oxidase for architectonic analysis. The main callosal connections of M1 and the caudal portion of PMD (PMDc) were with homotopic sites, and the major callosal connections of the rostral portion of PMD (PMDr), SMA, and FEF were with homotopic sites and adjoining cortex in the frontal lobe. In addition, M1 forelimb representation had sparse callosal connections, whereas M1 trunk and face representations, as well as the premotor areas, had dense callosal connections. The sparse interhemispheric connections of the forelimb sector of M1 suggests that the control of each forelimb is largely from the contralateral M1 in galagos, as in other primates. J. Comp. Neurol. 508:565–578, 2008. © 2008 Wiley‐Liss, Inc.
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
Authors: Emanuel Beverly S. 
Published: March 2008

AbstractSeveral recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster around the chromosome‐specific segmental duplications of proximal 22q11, which are involved in the etiology of these disorders. While the deletions are the result of nonallelic homologous recombination (NAHR) between low copy repeats or segmental duplications within 22q11, the t(11;22) is the result of rearrangement between palindromic AT‐rich repeats on 11q and 22q. Here we describe the mechanisms responsible for these recurrent rearrangements, discuss the recurrent deletion endpoints that are the result of NAHR between chromosome 22q specific low copy repeats as well as present current diagnostic approaches to deletion detection. © 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:11–18.
The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective
Authors: Antshel Kevin M. , Fremont Wanda , Kates Wendy R. 
Published: March 2008

AbstractAlthough research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo‐cardio‐facial syndrome (VCFS), we know relatively little about the extent to which within‐individual expressions of the cognitive phenotype remain stable throughout development. General cognitive functioning in the low borderline range is the most consistent cognitive finding. Stronger reading decoding and spelling skills as well as auditory/verbal rote memory skills have been reported to be areas of relative strength. Conversely, significant visuospatial dysfunction, diminished math attainment, and executive dysfunction have all been reported as phenotypic. We propose several considerations that could advance our knowledge of developmental changes in the VCFS cognitive phenotype. The most salient of these is the need for more longitudinal designs with carefully matched control participants. © 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:43–51.
Genes, brain development and psychiatric phenotypes in velo‐cardio‐facial syndrome
Authors: Gothelf Doron , Schaer Marie , Eliez Stephan 
Published: March 2008

AbstractVelo‐cardio‐facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure and function and, consequently, on the emergence of schizophrenia‐like psychotic disorder. In this review, we describe the psychiatric phenotype of children, adolescents, and young adults with VCFS. We redefine the concept of “behavioral phenotype” and suggest that psychosis fulfills the criteria of a behavioral phenotype of the syndrome. Identifying the risk factors for the emergence of psychosis in VCFS is a major goal of several large‐scale longitudinal studies that are currently underway. We review the knowledge gained so far about risk factors for psychosis in VCFS, including early neuropsychiatric symptoms, development of brain structure and function, and the effect of a reduced dosage of genes from the 22q11 deletion region. Although the brain structure in subjects with VCFS is not drastically different from typically developing controls, newer imaging modalities that measure white matter tracts, cortical thickness, and cortical gyrification are likely to identify more subtle and specific neuroanatomical substrates of the syndrome. Among the 24 genes within the deletion region, the role of catechol‐O‐methyltransferase (COMT) on the VCFS phenotype has been investigated in depth. The findings suggest that because of haploinsufficiency of the COMT gene individuals with VCFS are exposed to a high level of prefrontal dopamine, and this interferes with their prefrontal cognitive functioning and may contribute to their high rate of psychosis and other psychiatric disorders. The other genes and environmental factors that shape the unique neuropsychiatric phenotype of VCFS are yet to be discovered. © 2008 Wiley‐Liss, Inc. Dev Disabil Res Rev 2008;14:59–68.
Age, sex, and dominance‐related mushroom body plasticity in the paperwasp Mischocyttarus mastigophorus
Authors: Molina Yamile , O'Donnell Sean 
Published: March 2008

AbstractSocial Hymenoptera are important models for analyzing functional brain plasticity. These insects provide the opportunity to learn how individuals' social roles are related to flexible investment in different brain regions. We assessed how age, sex, and individual behavior influence brain development in a primitively eusocial paper wasp, Mischocyttarus mastigophorus. Previous research in other species has demonstrated experience‐dependent changes in central and primary sensory centers in the brain. The mushroom body (MB) calyx is a central processing region involved in sensory integration, learning and memory and may be particularly relevant to social behavior. We extend earlier cross‐sectional studies of female brain/behavior associations by measuring sex‐ and age‐related differences in MB calyx volume, and by quantifying optic lobe and antennal lobe development. Age did predict MB development: calyx neuropils increased in volume with age. We show that MB development differs between the sexes. Males, who frequently depart to seek mating opportunities, have larger MB calyx collars (which receive optic input) than females. In contrast, females have augmented predominantly antenna‐innervated MB calyx lips, which may be useful for nestmate recognition and interactions on the nest. Sex differences in MB development increased with age. After accounting for age and sex effects, social aggression was positively correlated with MB calyx volume for both sexes. We found little evidence for relationships among sex, age, or behavior and the volumes of peripheral sensory processing structures. We discuss the implications of gender‐ and age‐related effects on brain volume in relation to male and female life history and reproductive success. © 2008 Wiley Periodicals, Inc. Develop Neurobiol, 2008
Notch signaling is necessary for GATA3 function in the initiation of T cell development
Authors: Hozumi Katsuto , Negishi Naoko , Tsuchiya Izumi , Abe Natsumi , Hirano Ken‐ichi , Suzuki Daisuke , Yamamoto Masayuki , Engel James D. , Habu Sonoko 
Published: March 2008

AbstractGATA3 and Notch1 are essential for T cell development at the earliest stage, but their mutual roles in this process remain to be clarified. In this study, we demonstrated that impairment of T lymphopoiesis in hematopoietic progenitor cells (HPC) of GATA3‐deficient fetal liver (FL) on day 11.5 of gestation (E11.5) was rescued only by introduction of both GATA3 and the intracellular region of Notch1 but not by either alone. However, the introduction of GATA3 only was sufficient for T cell induction in GATA3‐deficient FL cells at the advanced stage, where Notch signaling is well detectable. This indicates that Notch signaling is necessary for GATA3 to function for T cell fate specification but is not sufficient without GATA3. On the other hand, Notch signaling is sufficient for blockage of B cell development without GATA3, suggesting that T cell fate specification at the branching point does not result simply from the developmental arrest of B cell lineage by Notch signaling.
Interleukin‐10 regulates TNF‐α−converting enzyme (TACE/ADAM‐17) involving a TIMP‐3 dependent and independent mechanism
Authors: Brennan Fionula M. , Green Patricia , Amjadi Parisa , Robertshaw Heidi J. , Alvarez‐Iglesias Montserrat , Takata Masao 
Published: March 2008

AbstractIL‐10 is a potent anti‐inflammatory molecule, which regulates TNF‐α at multiple levels. We investigated whether IL‐10 also modulated the activity of the TNF‐α‐converting enzyme (TACE). Using an ex vivo fluorogenic assay we observed that LPS rapidly induced TACE activity in monocytes coinciding with release of soluble TNF‐α. In the presence of IL‐10, TNF‐α production and activation of surface TACE was significantly inhibited. Paradoxically, both LPS with or without IL‐10 led to accumulation of surface TACE (albeit catalytically inactive) over a 24 h period. We investigated whether this was mediated through induction of endogenous tissue inhibitor metalloproteinase‐3 (TIMP‐3). We found that the inhibition of TACE activity at 2 h by IL‐10 was not TIMP‐3 dependent but that the late accumulation of surface TACE was prevented with TIMP‐3 antibodies. Furthermore, induction of endogenous TIMP‐3 was observed by western blotting in both LPS‐ and in LPS with IL‐10‐treated monocytes from 6 to 8 h of culture. These results indicate that IL‐10 further regulates TNF‐α by modulating TACE activation at early time points and by contributing to the induction of TIMP‐3, the natural inhibitor of active TACE, at later time points. These observations add to our understanding of inflammation and the importance of homeostatic regulators of these events.
Capillary electrochromatographic separation of peptides using a macrocyclic polyamine for molecular recognition
Authors: Chen Tse‐Hsien , Misra Tarun Kumar , Liu Chuen‐Ying 
Published: March 2008

AbstractA macrocyclic polyamine, 1,5,9,13,17,21,25,29‐octaazacyclodotriacontane ([32]ane‐N8), in the bonded phase was employed as a molecular receptor for CEC separation of oligopeptides. Parameters affecting the performance of the separations were considered. Baseline separation for the mixture of angiotensin I, angiotensin II, [Sar1, Thr8]‐angiotensin II, β‐casomorphin bovine, β‐casomorphin human, oxytocin acetate, tocinoic acid, vasopressin, and FMRF amide could be achieved using phosphate buffer (30 mM, pH 7) as the mobile phase. Column efficiency with average theoretical plate numbers of 69 000 plates/m and RSDs of <1% (n = 6) was achieved. [Met5]‐enkephalin and [Leu5]‐enkephalin, which have identical pI values and similar masses could be completely separated using acetate buffer (30 mM) with pH gradient (pH 3 inlet side and pH 4 outlet side). The results suggest that the mechanism for the peptide separation was mediated by a combination of electrophoretic migration and chromatographic retention involving anion coordination and anion exchange. After long‐term use, the deviation of the EOF of the column after more than 600 injections was still within 6.0% of that for a freshly prepared column.
Placental mesenchymal dysplasia associated with trisomy 13: Sonographic findings
Authors: Müngen Ercüment , Dundar Özgür , Muhcu Murat , Haholu Aptullah , Tunca Yusuf 
Published: March 2008

AbstractPlacental mesenchymal dysplasia (PMD) is a rare placental abnormality with sonographic and macroscopic features similar to those seen in a partial hydatidiform mole, and which has usually been reported with a normal female karyotype. We report a case of prenatally suspected PMD associated with trisomy 13. Sonography performed at 17 weeks' gestation showed multiple cystic spaces in the placenta resembling molar tissue, and a fetus with postaxial polydactyly and an atrial septal defect. An amniocentesis revealed a fetal karyotype of 46,XY,der(13), t(13;13)(q11;q11)[20]/47,XY,+13[11], consistent with trisomy 13. Cordocentesis confirmed the cytogenetic diagnosis. Histopathologic examination of the placenta following termination of the pregnancy at 22 weeks' gestation showed enlarged stem villi with loose connective tissue and cistern formation and no evidence of trophoblastic hyperplasia or stromal trophoblastic inclusions, which was consistent with PMD. PMD should be considered in the differential diagnoses of a placenta showing multiple cystic lesions on prenatal sonography, and karyotypic analysis should be performed. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008.
The effect of wrist position on the relative motion of tendon, nerve, and subsynovial connective tissue within the carpal tunnel in a human cadaver model
Authors: Yoshii Yuichi , Zhao Chunfeng , Zhao Kristin D. , Zobitz Mark E. , An Kai‐Nan , Amadio Peter C. 
Published: March 2008

AbstractThe purpose of this study was to measure the effect of wrist position on the relative motion of the middle finger flexor digitorum superficialis (FDS) tendon, subsynovial connective tissue (SSCT), median nerve, and flexor retinaculum during simulated active finger motion. The relative motion of each tissue was measured by fluoroscopy in 10 human cadavers. Measurements were obtained for wrist positions of neutral (0 degree extension), 30 and 60 degrees of flexion, and 30 and 60 degrees of extension. The shear strain index (SSI) was defined as the difference in motion between two tissues (tendon, SSCT, or nerve) divided by tendon excursion, expressed as a percentage. The motion of the tendon, SSCT, and nerve in the 60 degree flexed position was significantly less than the motion in all other wrist positions (p < 0.001). The SSI at 60 degrees of flexion for tendon–SSCT and tendon–nerve were significantly increased compared with all other positions (p < 0.001). Because the SSCT and tendon are physically connected, a decrease in SSCT motion relative to the tendon would increase the shear strain on the SSCT with tendon motion. Thus, this result suggests that the SSCT may be predisposed to shear injury from activity done in 60 degrees of wrist flexion. © 2008 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 26:1153–1158, 2008
Assigning cardinal weights in multi‐criteria decision making based on ordinal ranking
Authors: Alfares Hesham K. , Duffuaa Salih O. 
Published: March 2008

AbstractA methodology is proposed to convert ordinal ranking of a number of criteria into numerical weights. Specifically, a simple mathematical expression is developed to provide the weight for each criterion as function of its rank and the total number of criteria. The proposed methodology is empirically developed, evaluated, and validated based on a set of experiments involving students and faculty at the authors' university. Given only criteria ranks provided by a decision maker, this methodology can be used to determine relative weights for any set of criteria. Copyright © 2008 John Wiley & Sons, Ltd.
A novel group of multi‐GAP‐domain proteins
Authors: Ruan Yibing , Sensen Christoph W. , van der Hoorn Frans A. 
Published: March 2008

AbstractThe Rho GTPase‐activating proteins (RhoGAPs) play an essential role in regulating various cellular processes. Rat tGAP1 is the first reported protein that has multiple GAP domains. It is exclusively expressed in male germ cells. However, tGAP1 does not possess GAP activities in vitro. No tGAP1 homology has been identified in other species. In this study, we searched the genomic databases and identified many genes whose protein products possess 2–4 GAP domains in rat, mouse and dog. These genes all showed sequence similarity to tGAP1. The rat tGAP gene loci all locate on chromosome 2 and are all expressed in testes in RT‐PCR analysis. The mouse tGAP gene loci also clustered on chromosome 3 but RT‐PCR analysis showed most are pseudogene loci. Multiple sequence alignment showed that many conserved residues of the “arginine finger” motif within the GAP domains of predicted tGAP proteins have mutated, suggesting that tGAP proteins do not possess GAP activity. We also elucidated the evolutionary relations among the rat tGAP genes. Based on the phylogenetic analysis data, we proposed that tGAP genes and Arhgap20 genes have a common ancestor. Mol. Reprod. Dev. 75: 1578–1589 © 2008 Wiley‐Liss, Inc.
Expression of mRNA and proteins for GnRH I and II and their receptors in primate corpus luteum during menstrual cycle
Authors: Chakrabarti Nilkanta , Subbarao Thenmozhi , Sengupta Anamika , Xu Fuhua , Stouffer Richard L. , Sridaran Rajagopala 
Published: March 2008

AbstractThe differential expression of mRNA and protein of GnRH I, II and their receptors (RI and RII) in the monkey corpus luteum (CL) were measured during different stages of the luteal phase of the menstrual cycle as an initial step towards considering the role and regulation of GnRH (I and II) system during luteinization and luteolysis in primates. RT‐PCR confirmed the sequence identity of PCR products and real time PCR quantified specific mRNA expressions. Proteins were localized by immunohistochemistry (IHC). Changes in mRNA expression patterns of GnRH I and II (increased) and GnRH RII (decreased) were maximal at mid‐late to late stages, that is, at CL regression, where as GnRH RI was low during the entire luteal phase. However, RT‐PCR and IHC studies confirmed the presence of GnRH RI at both mRNA and protein levels, respectively. IHC results showed the presence of GnRH I, II and their receptors in steroidogenic cells (granulose‐luteal cells and thecal‐luteal cells) across the luteal phase. Hence, GnRH I and II systems may have a role on both luteinization (from early to mid stages of CL) and luteolysis (from mid‐late to very‐late stages of CL). These novel findings suggest that monkey luteal GnRH system may have a role in fertility regulation in paracrine and/or autocrine manner. Mol. Reprod. Dev. 75: 1567–1577 © 2008 Wiley‐Liss, Inc.
Loss of Runx3 affects ovulation and estrogen‐induced endometrial cell proliferation in female mice
Authors: Sakuma Atsuko , Fukamachi Hiroshi , Ito Kosei , Ito Yoshiaki , Takeuchi Sakae , Takahashi Sumio 
Published: March 2008

AbstractRunx3 is a transcription factor that belongs to the Runx family. We studied the function of Runx3 in the mouse ovary and uterus using the Runx3 knockout (Runx3−/−) mouse. Ovaries were collected from 8‐week‐old wild type (wt) and Runx3−/− mice. Histological studies showed that follicles were present at various developmental stages in the Runx3−/− and wt mouse ovaries. The numbers of primary, preantral and antral follicles in the Runx3−/− mice were significantly less than those in the wt mice while the number of primordial follicles in the Runx3−/− mice was not significantly different from that in the wt mice. Corpora lutea were not detected in the Runx3−/− mouse ovary. Gonadotropin treatment in immature female mice induced ovulation in Runx3−/− mice as well as in wt mice, indicating that ovaries of Runx3−/− mice respond to gonadotropin treatment as those in wt mouse ovaries. This suggests that failure of ovulation is due to dysfunction of regulatory mechanism of gonadotropin secretion. In addition, the uteri of Runx3−/− mice were atrophic, showed thin epithelial layers compared with those of the wt mice, and did not respond to estrogen in terms of DNA replication in endometrial epithelial cells. These results suggest that Runx3 takes part in the regulation of reproductive functions. Mol. Reprod. Dev. 75: 1653–1661, 2008. © 2008 Wiley‐Liss, Inc.
Over‐expression of FOXM1 transcription factor is associated with cervical cancer progression and pathogenesis
Authors: Chan DW , Yu SYM , Chiu PM , Yao KM , Liu VWS , Cheung ANY , Ngan HYS 
Published: March 2008

AbstractThe Forkhead Box M1 (FOXM1) transcription factor plays a crucial role in regulating expression of cell cycle genes which are essentially involved in cell proliferation, differentiation and transformation. Recent studies have reported that aberrant expression of FOXM1 in a variety of human cancers is associated with their aggressive behaviour. However, the functional significance of FOXM1 in human cervical cancer is not known. We have shown that FOXM1 was significantly over‐expressed in cervical squamous cell carcinoma (SCC) compared to normal cervical epithelium immunohistochemically (p < 0.001). In addition, intratumoural FOXM1 positivity was increased in cervical intraepithelial neoplasia (CIN) and carcinoma, compared with that in normal epithelium, indicating that FOXM1 is involved in tumour progression. Indeed, this is supported by clinicopathological analysis that the over‐expression of FOXM1 was significantly associated with tumour late stage (p = 0.012) and cell proliferation marker, Ki67 (p < 0.001). Functionally, enforced expression of FOXM1c in FOXM1‐deficient cervical cancer cells (C33A) remarkably enhanced cell proliferation and anchorage‐independent growth ability. Conversely, depletion of FOXM1 by RNA interference in FOXM1‐over‐expressing cervical cancer cells (SiHa) caused significant inhibition on cell proliferation and anchorage‐independent growth ability on soft agar. This inhibitory phenomenon was associated with the reduced expressions of cyclin B1, cyclinD1 and cdc25B but increased expression of p27Kip1 and p21Cip1. Our findings suggest a role for FOXM1 in the development and pathogenesis of human cervical SCC. Copyright © 2008 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.