bluuebunny/crossref_metadata_2025_split huggingface dataset:
Positive association of the AMPA receptor subunit GluR4 gene (GRIA4) haplotype with schizophrenia: Linkage disequilibrium mapping using SNPs evenly distributed across the gene region
Authors: Makino Chieko , Fujii Yo , Kikuta Rumiko , Hirata Naotsugu , Tani Ayako , Shibata Atsushi , Ninomiya Hideaki , Tashiro Nobutada , Shibata Hiroki , Fukumaki Yasuyuki 
Published: December 2002

AbstractThe glutamatergic dysfunction hypothesis suggests that genes involved in the glutamate neurotransmitter system are candidates for schizophrenia‐susceptibility genes. We have been conducting systematic studies of the association between glutamate receptors and schizophrenia. We report on a positive association of some haplotypes of the AMPA receptor subunit GluR4 gene (GRIA4) with schizophrenia. We genotyped 100 Japanese schizophrenics and 100 controls for six single nucleotide polymorphism (SNP) markers distributed at intervals of about 50 kb in the GRIA4 region, and estimated the degree of linkage disequilibrium (LD) between the SNPs. We constructed haplotypes of the SNPs in LD using the EM algorithm to test their association with schizophrenia. Significant associations were detected for the combination of SNP4‐5 (χ2 = 12.54, df = 3, P = 0.0057, P = 0.029 with Bonferroni correction) and for the combination of SNP3‐4‐5 (χ2 = 18.9, df = 7, P = 0.0085, P = 0.043 with Bonferroni correction). These results suggest that at least one susceptibility locus for schizophrenia is located within or very close to the GRIA4 region in Japanese. © 2003 Wiley‐Liss, Inc.
Polymorphism screening of PIK4CA: Possible candidate gene for chromosome 22q11‐linked psychiatric disorders
Authors: Saito Takuya , Stopkova Pavla , Diaz Libna , Papolos Demitri F. , Boussemart Lise , Lachman Herbert M. 
Published: December 2002

AbstractLithium is potent non‐competitive inhibitor of an enzyme involved in the metabolism of phosphatidylinositol 4,5‐bisphosphate (PtdIns‐4,5‐P2), a critical phosphoinositide (PI) that regulates signal transduction and synaptic vesicle function. Interestingly, a number of genes involved in the regulation of PtdIns‐4,5‐P2 synthesis and dephosphorylation are found in regions of the genome previously mapped in bipolar disorder (BPD) including 10p, 18q, 21q, and 22q. One is PIK4CA, a member of the phosphatidylinositol 4‐kinase family that phosphorylates PtdIns at the D4 position of the inositol ring as part of the PtdIns‐4,5‐P2 synthetic pathway. PIK4CA maps to 22q11 in a region believed to contain a susceptibility gene for psychiatric disorders. Screening of two functional domains of PIK4CA and the promoter region resulted in the identification of 15 different polymorphisms. Rare variants at a consensus splice donor site and the promoter region were found in a total of three patients with BPD, three with schizophrenia (SZ) and only one control. Several common non‐synonymous changes and a common single nucleotide polymorphism (SNP) at position −31 in the putative promoter were identified and analyzed in patients with BPD, SZ, and controls. There was no difference in the allele distribution in mentally ill subjects and controls for two variants, R2259C and E2079Q, both located in the PIK4CA catalytic domain. There was, however, a trend toward significance in the distribution of the −31 promoter genotypes in bipolar subjects and controls. Although the results of this analysis were modest, considering the heterogeneity of BPD and SZ and the hypothesis that BPD may be caused by abnormalities in genes that regulate PI‐mediated phenomena in the brain, the polymorphisms we detected in the PIK4CA gene should be analyzed in a larger data set to help determine their significance in 22q11‐linked mental disorders. © 2002 Wiley‐Liss, Inc.
Lack of association between serotonin 5‐HT1B receptor gene polymorphism and suicidal behavior
Authors: Rujescu Dan , Giegling Ina , Sato Tetsuya , Möller Hans‐Jürgen 
Published: December 2002

AbstractA genetic susceptibility to suicide attempts has been repeatedly suggested by family‐, twin‐, and adoption‐studies. Because elevated impulsive aggression is one of the most prominent characteristics of suicide attempters and aggressive behavior has been reported in 5‐HT1B receptor gene knockout mice, the serotonin receptor 1B gene (5‐HT1B) is an attractive candidate. The distribution of a polymorphism (G861C) in the 5‐HT1B gene was examined in 148 consecutively hospitalized German suicide attempters, and 327 German healthy volunteers randomly recruited from the general population. The controls and their first degree relatives had no history of mental disorders or suicidal behavior. We found no significant difference in allele or genotype frequency between patients and controls. The results did not differ when the patients were divided into several subgroups (gender, suicide attempters with a violent method or suicide attempters with unipolar‐, bipolar‐, borderline personality‐, and schizophrenia spectrum disorders). These findings suggest that the 5‐HT1B polymorphism is unlikely to play a major role in the genetic susceptibility to suicide attempts. © 2002 Wiley‐Liss, Inc.
No association between non‐violent suicidal behavior and the serotonin transporter promoter polymorphism
Authors: Courtet Philippe , Buresi Catherine , Abbar Mocrane , Baud Patrick , Boulenger Jean‐Philippe , Castelnau Didier , Mouthon Dominique , Malafosse Alain 
Published: December 2002

AbstractThere is compelling evidence that suicidal behavior is associated with the dysfunction of the serotonin system. A functional polymorphism in the promoter region of the serotonin transporter gene (5‐HTTLPR) was recently identified and the presence of the short allele was associated with lower gene expression, lower 5‐HT uptake and violent suicidal behavior. Thus, we attempted to determine whether 5‐HTTLPR is also involved in the susceptibility to non‐violent suicidal behavior. We compared the genotype from 166 West European Caucasians who attempted suicide by a non‐violent mean with 139 controls with no history of suicidal behavior from the same ethnic origin. The frequencies of the S allele and the SS genotype in the sample who attempted non‐violent suicide were not statistically different to those in the controls. Thus, the genetically altered expression of the 5‐HT transporter might be associated with more severe or violent suicidal behavior, but not with non‐violent suicidal behavior. © 2002 Wiley‐Liss, Inc.
Fine mapping of an isodicentric Y chromosomal breakpoint from a schizophrenic patient
Authors: Yoshitsugu Kiyoshi , Meerabux Joanne M.A. , Asai Kunihiko , Yoshikawa Takeo 
Published: December 2002

AbstractWe report on a male schizophrenic patient who carried an isodicentric Y chromosome [idic(Y)] with a mosaic karyotype [mos 45,X/46,X,idic(Y)(q11)]. Although a potential association between sex chromosome abnormalities and a susceptibility to psychoses has been documented, there has only been one previous report of idic(Y) coincident with schizophrenia. The [45,X] karyotype is known to be associated with Turner syndrome (TS), but our patient lacked most of the phenotypic features of TS, except for short stature. To define the precise position of the breakpoint on the patient's abnormal Y chromosome, we carried out polymerase chain reaction (PCR) analysis, using primers for 15 marker loci along the chromosome. The breakpoint was localized to between the marker loci sY118 and sY119 on Yq in the 5M interval of the deletion map. This position represents the most centromeric breakpoint recorded for idic(Y). We cannot exclude the possibility that the development of schizophrenia is unrelated to the Y chromosome abnormality in this patient but we hope that this study will stimulate further cytogenetic and molecular genetic analyses of Y chromosome regions that may influence psychiatric traits. © 2002 Wiley‐Liss, Inc.
Evaluation of fluorescent dyes for measuring intracellular glutathione content in primary cultures of human neurons and neuroblastoma SH‐SY5Y
Authors: Sebastià Jordi , Cristòfol Rosa , Martín Manuela , Rodríguez‐Farré Eduard , Sanfeliu Coral 
Published: December 2002

AbstractBackgroundReduced glutathione (GSH) protects cells against oxidative injury and maintains a range of vital functions. To study GSH content in human neuronal cell cultures, thiol‐sensitive fluorescent techniques requiring a small number of cells may be of great value, but their GSH specificity has not been established in these cells.MethodsWe tested the efficiency of four currently available GSH fluorescent stains in human neurons and SH‐SY5Y neuroblastoma cells, both cultured in microwells, by using a fluorescence plate reader. Cultures were treated with the inhibitor of the GSH synthesis, buthionine sulfoximine (BSO), and progressive GSH depletion was assayed with monochlorobimane (mBCl), monobromobimane (mBBr), 5‐chloromethylfluorescein diacetate (CMFDA), and 7‐amino‐4‐chloromethylcoumarin (CMAC). GSH was also determined by a biochemical method in cell homogenates to obtain quantitative reference values.ResultsNeurons and SH‐SY5Y neuroblastoma had basal GSH contents of 27.1 ± 3.2 and 14.5 ± 1.7 nmol/mg protein (n = 5), respectively. An approximate 90% depletion of GSH was obtained after 3 days of exposure to 1,000 μM of BSO in neurons and after 1 day in SH‐SY5Y cells. Cell death through an apoptotic pathway appeared 1–2 days after total GSH depletion. The assayed stains had different degrees of background fluorescence and sensitivity to GSH content, with similar results in both neuronal cell types. The probes mBCl and CMAC showed the lowest background, and the GSH‐depletion curves were most similar to that of the reference method.ConclusionsBoth mBCl and CMAC are useful fluorescent stains to determine semiquantitative GSH concentration in human neuronal cell cultures. Cytometry Part A 51A:16–25, 2003. © 2002 Wiley‐Liss, Inc.
Guess what: Chronic 13q14.3+/CD5−/CD23+ lymphocytic leukemia in blood and t(11;14)(q13;q32)+/CD5+/CD23− mantle cell lymphoma in lymph nodes!
Authors: Lima Margarida , Pinto Luísa , Dos Anjos Teixeira Maria , Canelhas Áurea , Mota Alexandra , Cabeda José Manuel , Silva Cidália , Queirós Maria Luís , Fonseca Sónia , Santos Ana Helena , Brochado Paulo , Justiça Benvindo 
Published: December 2002

AbstractWe report a case of a patient with two B‐cell lymphoproliferative disorders: CD5−/CD23+ B‐cell chronic lymphocytic leukemia and CD5+/CD23− mantle cell lymphoma. These disorders were diagnosed simultaneously based on flow cytometry, immunohistochemistry, fluorescence in situ hybridization, and polymerase chain reaction–based molecular studies. The B‐cell lymphocytic leukemia clone predominated in the blood and bone marrow, whereas the mantle cell clone predominated in lymph nodes. Cytometry Part B (Clin. Cytometry) 51B:41–44, 2003. © 2002 Wiley‐Liss, Inc.
Increases in adipose and total body weight, but not in lean body mass, associated with subcutaneous administration of Sonic hedgehog‐Ig fusion protein to mice
Authors: Martin Pauline L. , Lane Joan , Pouliot Louise , Gains Malcolm , Stejskal Rudolph , Smith Susan Yvonne , Galdes Alphonse , Green James 
Published: December 2002

AbstractSonic hedgehog (Shh) is a member of a family of proteins that are involved in embryonic development. The receptor signaling pathways for Shh persist in adults and stimulation of this pathway has shown therapeutic efficacy in animal models of neurodegeneration/regeneration. This study was conducted to evaluate the safety of repeat dose administration of an IgG fusion protein of Shh (Shh‐Ig) in adult mice. Routine toxicology evaluations were performed. In addition, body composition analysis was conducted by densitometry. Shh‐Ig treatment caused a significant increase in body weight gain relative to controls and a slight increase in liver and spleen weights. The increase in body weight could be largely accounted for by an increase in body fat. The treatment‐related increases in body weight were reversible upon cessation of treatment. Shh‐Ig treatment produced no significant changes in clinical chemistry or hematology. There were no gross or histomorphologic findings in any tissue except for skin and spleen. Microscopic findings in the skin were limited to minimal to slight local epidermal hyperplasia at the sc injection site and increased thickness of the fat layer. In the spleen a slight increase in extramedullary hematopoiesis was seen. This finding is possibly a secondary response following inflammation at the injection site in some animals due to the administration of a foreign protein. This study showed that Shh‐Ig administration was well tolerated. The most significant finding was a reversible increase in body weight. Drug Dev. Res. 57:107–114, 2002. © 2002 Wiley‐Liss, Inc.
Osteoblastic differentiation of mesenchymal stem cells by mumie extract
Authors: Jung Cho‐Rok , Schepetkin Igor A. , Woo Sang B. , Khlebnikov Andrei I. , Kwon Byoung S. 
Published: December 2002

AbstractMumie, a plant humus matter from rocks, is known as anabolic and a stimulator of bone regeneration in the Russian and Indian systems of health and medicine. The water‐soluble fraction of mumie from Uzbekistan was characterized using 1H NMR and infrared spectroscopic methods. The mumie extract has been investigated for its effect on osteoblastic differentiation in cell culture assays of human and murine mesenchymal stem cells. The calcium deposition and expression of alkaline phosphatase, osteocalcin, core binding factor 1 (Cbfa1), and ERK have been studied. During the 14‐day assay period, human bone marrow mesenchymal stem cells (hMSCs) and human fetal osteoblasts cultured with mumie (3–5 µg/ml) underwent a dramatic change in cellular morphology, which was accompanied by a significant increase in alkaline phosphatase activity, calcium deposition, and osteocalcin expression. The expression of core binding factor 1 and ERK were enhanced in hMSCs and murine pluripotent mesenchymal precursor cell line C2C12. Dose‐dependent decrease in TRAP‐positive multinucleated cell formation from macrophage‐like cells RAW 264.7 was observed with increasing concentration of mumie in the presence of RANKL (40 ng/ml) and PD98059 (10 µM), a specific inhibitor of ERK activity. The data suggest that mumie is a potent stimulator of osteoblastic differentiation of mesenchymal stem cells and inhibitor of osteoclastogenesis, hence it maybe of clinical benefit in the treatment for osteoporosis in human. Drug Dev. Res. 57: 122–133, 2002. © 2002 Wiley‐Liss, Inc.
Night time eating: a review of the literature
Authors: de Zwaan Martina , Burgard Melissa A. , Schenck Carlos H. , Mitchell James E. 
Published: December 2002

AbstractThis study reviews the published research on night time eating, including the night eating syndrome (NES) and the nocturnal eating/drinking syndrome (NEDS). Studies were identified by a computerized literature search (PubMed, PsycInfo) and by references from the papers obtained. In addition, published abstracts from recent conferences in the areas of eating disorders and obesity were included. Individual studies were reviewed and their results summarized. Wakeful night time eating appears to be a frequent symptom which is more common among the obese. The data suggest an early age of onset with a chronic course in many patients. There appears to be considerable overlap between NES and NEDS. Treatment studies are sparse. The clinical features of these syndromes, their comorbidities, and their prevalence rates remain a matter of debate. It is unclear if the night eating syndrome presents a distinct entity that is of clinical relevance. The current nosologies may not capture the natural clustering of eating and sleep‐related pathology as it occurs in general population samples. Copyright © 2003 John Wiley & Sons, Ltd and Eating Disorders Association.
Geoarchaeological contexts for Late Pleistocene archaeological sites with human‐modified woolly mammoth remains in southeastern Wisconsin, U.S.A.
Authors: Overstreet David F. , Kolb Michael F. 
Published: December 2002

AbstractThis paper defines the geomorphic and stratigraphic contexts, and site formation processes for the Hebior and Schaefer woolly mammoths in southeastern Wisconsin. Both mammoths were butchered, and there are artifacts associated with the faunal remains. Radiocarbon ages obtained from purified mammoth bone collagen range between 12,200 and 12,600 yr B.P. for the Schaefer and Hebior mammoths and between 13,440 and 13,510 yr B.P. for the nearby Mud Lake and Fenske mammoths. These ages indicate human use of an ice marginal landscape 1000–2000 years before human–mammoth interaction in the American southwest. They also indicate these sites are pre‐Clovis in age and may be associated with the recently defined non‐Clovis Paleoindian variant called the Chesrow complex. Chesrow complex sites are located on glacial lake and moraine features or in deposits that are of similar ages as the butchered mammoths, but they have not been unequivocally linked to the mammoth sites. Geomorphic and stratigraphic data were collected from profiles in archaeological excavations and backhoe trenches, and from cores. The Hebior and Schaefer sites lie in a topographic low between two end moraines. Mammoths remains rest on deglacial deposits and are encased in the post‐glacial deposits. At Hebior, these deposits consist of glaciolacustrine clays overlain by a thin stratum of glaciofluvial sands, on which the bones rest, overlain by laminated peat and muck. Sills and dikes of sand cross‐cut the organic deposits and formed late in the depositional sequence. At the Schaefer site, the bone pile rests on glaciolacustrine clays and is encased in clastic pond deposits and laminated peat and muck. Contextual analysis indicates the bone piles arein situand were preserved initially by inundation in ponds and subsequently by organic deposition in wetlands. Radiocarbon ages, stratigraphic/geomorphic contexts, and taphonomic studies indicate the Hebior and Schaefer mammoths arein situevidence for human interaction with megafauna very near the active glacial ice margin in the mid‐continent by 12,500 yr B.P. and perhaps as early as 13,500 yr B.P. © 2003 Wiley Periodicals, Inc.
Dating the Lindenmeier Folsom site, Colorado, U.S.A., before the radiocarbon revolution
Authors: Haynes C. Vance 
Published: December 2002

AbstractDetermining the age of the Lindenmeier Folsom site a decade before the advent of radiocarbon dating required the combined application of stratigraphy, geomorphology, and glacial chronology as well as archaeology. Eventually, radiocarbon dating at the site proved the estimates to be remarkably close to the true age. This paper summarizes Kirk Bryan and Louis L. Ray's efforts during the 1930s and early 1940s to determine the age of the Folsom horizon at Lindenmeier, and compares their relative chronology with the radiocarbon chronology established by others and myself for the site. © 2003 Wiley Periodicals, Inc.
Macrotricyclic quaternary tetraammonium receptors: Halide anion recognition and interfacial activity at an aqueous interface. A molecular dynamics investigation
Authors: Chaumont Alain , Wipff Georges 
Published: December 2002

AbstractWe report a molecular dynamics study of the halide inclusion complexes X− ⊂ L4+ of a macrotricyclic tetrahedral receptor L4+ built from four quaternary ammonium sites connected by six (CH2)n chains. The hydrophilic/hydrophobic character of the complexes is investigated at a water/chloroform interface, represented explicitly and, despite their +3 charge and “spherical” shape, they are found to display amphiphilic behavior and to concentrate at the interface. The more lipophilic N‐substituted CH2ϕ derivative, as well as less charged models are more surface active than the N‐Me substituted host. In relation with the Hofmeister series, I−
exo neutralizing counterions are compared with Cl− anions and are found to sit closer to the interface, which becomes more neutral. The “macrocyclic interfacial effect” is investigated by a comparison of L4+ complexes with their acyclic counterparts. Finally, we address the question of anion binding selectivity by L4+ and its L and L topological isomers. F− is too small for these three hosts, while I− is too big. According to free energy perturbation calculations, Cl− is preferred to Br−, but somewhat more by L than by L4+. © 2002 Wiley Periodicals, Inc. J Comput Chem 23: 1532–1543, 2002
Helix motion in protein C12A‐p8MTCP1: Comparison of molecular dynamics simulations and multifield NMR relaxation data
Authors: Barthe Philippe , Roumestand Christian , Déméné Hélène , Chiche Laurent 
Published: December 2002

AbstractThe human p8MTCP1 protein is constituted by an original disulfide bridged α‐hairpin motif, and a third hydrophilic helix that appeared mobile and independent in NMR analysis. To get atomic scale description of the possible motions involved, a 12‐ns molecular dynamics simulation of the C12A‐p8MTCP1 mutated protein and 10 400‐ps simulations were performed in explicit water at 298 K. Analyses of the essential dynamics subspace and of the time‐evolution of secondary structures indicate large displacements and internal motions of the third helix. Simulated order parameters, S,2 are consistent to those obtained from 15N‐NMR relaxation data recorded at five different magnetic fields (proton resonance frequencies: 400, 500, 600, 700, and 800 MHz). The simulations show a fairly rigid α‐hairpin motif with only very small local conformational changes, although the loop between helices undergoes significant correlated motions. The displacements and internal motions of the third helix can be essentially accounted for by α‐helical to 310‐helical transitions near its N‐terminus and by a hinge‐bending motion near glycine 52. The loss of the α‐helical conformation for a large part of the third helix during about 25% of the simulation time supports the possible occurrence of a slow motion as suggested by previous analyses of the 3JNH‐Hα coupling constant values and of the proton‐deuterium NH exchange kinetics. © 2002 Wiley Periodicals, Inc. J Comput Chem 23: 1577–1586, 2002
Ultrastructure of endothelial cells under flow alteration
Authors: Masuda Hirotake , Kawamura Koichi , Nanjo Hiroshi , Sho Eiketsu , Komatsu Masayo , Sugiyama Tatsuo , Sugita Akihiro , Asari Yasushi , Kobayashi Mikio , Ebina Toshihito , Hoshi Naoto , Singh Tej M. , Xu Chengpei , Zarins Christopher K. 
Published: December 2002

AbstractEndothelial cells are stable and quiet in normal animals. They arrange regularly and have a smooth lumen surface and thin endothelial wall. According to Thoma's principle (1893) and Kamiya and Togawa's principle (1980) on the relationship of the vascular diameter to flow alteration, blood flow is in equilibrium to the diameter and in a physiological state. That is to say, there is no fast flow or slow flow. To understand the nature of the endothelial cells, we should investigate endothelial cells under flow alteration to break the equilibrium state. Endothelial cells under increased flow were studied in arteries with an arteriovenous fistula or in the capillaries of myocardium with volume‐overloaded hearts or of the skeletal muscle by electrical stimulation. Those under decreased flow were studied by the closure of the fistula or by ceasing the stimulation. Endothelial cells in the coarctation of the arteries were also observed. Endothelial cells were activated by increased flow in the arteries and capillaries, while they were inactivated by decreased flow. Endothelial activation is characterized as lumen protrusions, increase of cytoplasmic organelles, abluminal protrusions, basement membrane degradation, internal elastic lamina degradation in the arteries, and sproutings in the capillaries. These are ultrastructurally comparable to angiogenesis. Endothelial inactivation is characterized by the decrease of endothelial cell number with apoptosis, which is ultrastructurally comparable to angioregression. We assume that endothelial cells respond to increased flow by angiogenesis and to decreased flow by angioregression. Microsc. Res. Tech. 60:2–12, 2003. © 2002 Wiley‐Liss, Inc.