bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome
Authors: Slavotinek A. , Li C. , Sherr E.H. , Chudley A.E. 
Published: August 2006

AbstractFraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the FRAS1 gene have been demonstrated in five patients with Fraser syndrome. However, no phenotype–genotype correlation was established and there was evidence for genetic heterogeneity. Fraser syndrome is rare and the FRAS1 gene has 75 exons, complicating mutation screening in affected patients. We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related conditions. We report two new mutations in a patient with Fraser syndrome, a frameshift mutation and a deletion of two amino acids that we consider pathogenic as both alter the NG2‐like domain of the protein. Although we are still unable to clarify a phenotype–genotype relationship in Fraser syndrome, our data add to the list of mutations associated with this syndrome. © 2006 Wiley‐Liss, Inc.
Pooled association genome scanning for alcohol dependence using 104,268 SNPs: Validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism
Authors: Johnson Catherine , Drgon Tomas , Liu Qing‐Rong , Walther Donna , Edenberg Howard , Rice John , Foroud Tatiana , Uhl George R. 
Published: August 2006

AbstractAssociation genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of “100k” microarray‐based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol‐dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol‐dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty‐eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values ≥ 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034). These positive SNP clusters nominate interesting genes whose products are implicated in cellular signaling, gene regulation, development, “cell adhesion,” and Mendelian disorders. The results converge with linkage and association results for alcohol and other addictive phenotypes. The data support polygenic contributions to vulnerability to alcohol dependence. These SNPs provide new tools to aid the understanding, prevention, and treatment of alcohol abuse and dependence. © 2006 Wiley‐Liss, Inc.
Linkage disequilibrium, haplotype and association studies of a chromosome 4 GABA receptor gene cluster: Candidate gene variants for addictions
Authors: Drgon Tomas , D'Addario Claudio , Uhl George R. 
Published: August 2006

AbstractStrong genetic contributions to individual differences in vulnerability to addictions are well supported by classical genetic studies. Linkage and association genome scans for addiction vulnerability have provided converging evidence for several chromosomal regions which are likely to harbor allelic variants that contribute to such vulnerability. We and others have delineated a candidate addiction‐associated chromosome 4p12 “rSA3” region based on convergent data from association genome scanning studies in polysubstance abusers [Uhl et al. (2001); Am J Hum Genet 69(6):1290–1300], linkage‐based studies in alcoholism [Long et al. (1998); Am J Med Genet 81(3):216–221; Reich et al. (1998); Am J Med Genet 81(3):207–215] and association‐based studies for alcoholism and association‐based studies for individual differences in electroencephalographic (EEG) spectral power phenotypes [Porjesz et al. (2002); Proc Natl Acad Sci USA 99(6):3729–3733; Edenberg et al. (2004); Am J Hum Genet 74(4):705–714]. The rSA3 region contains interesting candidate genes that encode the alpha 2, alpha 4, beta 1, and gamma 1 receptor subunits for the principal brain inhibitory neurotransmitter, γ‐aminobutyric acid (GABA) [Covault et al. (2004); Am J Med Genet Part B 129B:104–109; Edenberg et al. (2004); Am J Hum Genet 74(4):705–714; Lappalainen et al. (2005); Alcohol Clin Exp Res 29(4):493–498]. We now report assessment of single nucleotide polymorphism (SNP) genotypes in this region in three samples of substance abusers and controls. These results delineate the haplotypes and patterns of linkage disequilibrium in this region, focus attention of the GABRA2 gene and identify modest associations between GABRA2 genotypes and addiction phenotypes. These results are consistent with modest roles for GABRA2 variants in addiction vulnerabilities. © 2006 Wiley‐Liss, Inc.
A review and re‐evaluation of an association between the NOTCH4 locus and schizophrenia
Authors: Wang Zhenqi , Wei Jun , Zhang Xuan , Guo Yingjun , Xu Qi , Liu Shuzheng , Shi Jieping , Yu Yaqin , Ju Guizhi , Li Yulin , Shen Yan 
Published: August 2006

AbstractThis work reviewed all the reports on the NOTCH4 gene in schizophrenia, which have been published since the gene was found to be associated with illness among a British population in 2000. The results from independent studies were inconsistent. Allelic heterogeneity, clinical diagnosis, ethnical backgrounds, and linkage disequilibrium (LD) structures in the human genome may be major reasons for poor replication. A couple of studies suggested that the NOTCH4 gene could play a role in a subgroup of the disease, such as early‐onset schizophrenia and negative symptoms. A single study revealed a weak association of the NOTCH4 gene with frontal lobe brain volumes and a strong association with frontal lobe cognitive performance. A meta‐analysis showed stronger evidence of the NOTCH4 association in family‐based studies than in case‐control studies. In a previous study, we found that rs520692, a single nucleotide polymorphism (SNP) at the NOTCH4 locus, was associated with schizophrenia in a Chinese population. In the present study, we applied a large sample size to re‐evaluate our initial findings and then confirmed the rs520692 association with illness. The pairwise measures did not show strong LD between paired SNPs although the SNPs tested are located within a 34‐kb region, suggesting that LD within the NOTCH4 gene has been broken rapidly by historical recombination in the Chinese population. Taken together, the NOTCH4 gene may be associated with schizophrenia but how the gene contributes to the etiology of the illness needs a further investigation. © 2006 Wiley‐Liss, Inc.
Shape‐controlled synthesis of Pt nanocrystals: an evolution of the tetrahedral shape
Authors: Yu Ying‐Tao , Xu Bo‐Qing 
Published: August 2006

AbstractPlatinum nanocrystals with sizes smaller than 10 nm are obtained by H2‐reduction of aqueous K2PtCl6 in the presence of different concentrations of poly (N‐vinyl‐2‐pyrrolidone; PVP:Mw ≈ 360 000) at pH = 2.5–7.0. Tetrahedral Pt nanocrystals (3–10 nm) are produced with high selectivity (73–83% by number) at moderate PVP:K2PtCl6 ratios. The co‐existing round/spheroidal crystallites are found to be smaller than the tetrahedrally shaped ones in the systems of varying K2PtCl6:PVP ratios. Careful examinations of the particle size and shape evolution of the crystallites at different stages of the crystal growth with transmission electron microscopy (TEM) and ultraviolet–visible absorption spectroscopy (UV–vis) suggest that the tetradedrally shaped Pt crystallites share the same type of nuclei with the round ones at the early stage of the crystal formation. Evolution of the tetrahedral shape happens in the later slow crystal growth. Copyright © 2006 John Wiley & Sons, Ltd.
One‐pot dual size‐ and shape selective synthesis of tetrahedral Pt nanoparticles
Authors: Kinge S. , Bönnemann H. 
Published: August 2006

AbstractOne‐pot dual size‐ and shape‐selective synthesis of tetrahedral Pt nanoparticles is achieved using the pre‐prepared Pt nanoparticles as the ‘external seeds’, and controlling the slow diffusional growth under hydrogen reduction in the presence of PVP as the capping agent. Copyright © 2006 John Wiley & Sons, Ltd.
Silyl modification of biologically active compounds. 12. Silyl group as true incentive to antitumour and antibacterial action of choline and colamine analogues
Authors: Zablotskaya Alla , Segal Izolda , Popelis Yuris , Lukevics Edmunds , Baluja Shipra , Shestakova Irina , Domracheva Ilona 
Published: August 2006

AbstractA series of triorganylsilyl(β‐dialkylaminoethoxy)silanes was prepared and characterized by elemental analysis, 1H, 13C, 29Si NMR and mass spectroscopy. Comparative study of 29Si resonance of newly synthesized compounds showed correlation between its value and substituent nature at the silicon atom, and is shifted upfield for β‐triorganyl(N,N‐dialkylaminoethoxy)silanes in comparison with corresponding methiodides, revealing weak N…Si interaction for proper silanes. In vitro antitumour and antimicrobial properties were investigated. The biological activity data exhibited a marked enhancement of inhibitory activity on trialkylsilylation against tumour cell lines and all the test bacterial/fungal strains. Copyright © 2006 John Wiley & Sons, Ltd.
UV laser deposition of nanostructured Si/C/O/N/H from disilazane precursors and evolution to silicon oxycarbonitride
Authors: Pola Josef , Galíková Anna , Bastl Zdeněk , Šubrt Jan , Vacek Karel , Brus Jiří , Ouchi Akihiko 
Published: August 2006

AbstractMegawatt ArF laser photolysis of gaseous methyldisilazanes [(CH3)nH3−nSi]2NH (n = 2, 3) in excess of Ar yields hydrocarbons (major volatile products), methylsilanes (minor volatile products) and allows chemical vapour deposition of solid amorphous Si/C/O/N/H powder containing SiX (XC, H, O, N) bonds. The incorporation of O is due to a high reactivity of the primarily formed products towards air moisture. The resulting solid materials possess nanometer‐sized texture and high specific area, contain Si‐centered radicals and anneal under argon to silicon oxycarbonitride, whose structure is described as a network of O‐ and N‐interconnected Si and C atoms. Copyright © 2006 John Wiley & Sons, Ltd.
Clavicle, a neglected bone: Morphology and relation to arm movements and shoulder architecture in primates
Authors: Voisin Jean‐Luc 
Published: August 2006

AbstractIn spite of its importance for movements of the upper limbs, the clavicle is an infrequently studied shoulder bone. The present study compares clavicular morphology among different extant primates. Methods have included the assessment of clavicular curvatures projected on two perpendicular planes that can be assessed overall as cranial and dorsal primary curvatures. Results showed that in cranial view, three morphologies can be defined. One group exhibited an external curvature considerably more pronounced than the internal one (Gorilla, Papio); a second group was characterized by an internal curvature much more pronounced than the external one (Hylobates, Ateles); and a third group contained those with the two curvatures equally pronounced (Pan, Homo, Pongo, Procolobus, Colobus). Clavicle curvatures projected on the dorsal plane could be placed into four groups. The first group is characterized by two curvatures, an inferior and a superior (Apes, Spider monkeys). The second included monkeys, whose clavicles have an inferior curvature much more pronounced than the superior one. The third group includes only Hylobates, whose clavicles possess only the superior curvature. The last group includes only modern humans, whose clavicles show only the inferior curvature, which is less pronounced than that which exists in monkeys. Curvatures in cranial view relate information regarding the parameters of arm elevation while those in dorsal view offer insights into the position of the scapula related to the thorax. The use of clavicular curvature analysis offers a new dimension in assessment of the functional morphology of the clavicle and its relationship to the shoulder complex. Anat Rec Part A, 288A:944–953, 2006. © 2006 Wiley‐Liss, Inc.
Automated method to measure trabecular thickness from microcomputed tomographic scans and its application
Authors: McColl Daniel J. , Abel Richard L. , Spears Iain R. , Macho Gabriele A. 
Published: August 2006

AbstractTrabeculae form the internal bony mesh work and provide strength to the bone; interconnectivity, overall density, and trabecular thickness are important measures of the integrity of the internal architecture. Such strength is achieved only gradually during ontogeny, whereby an increase in trabecular thickness precedes an increase in mineralization. Loss of bone mass later in life may be compensated for by thickening of the remaining trabeculae. These facts, and the role of trabeculae in mineral homeostasis, highlight the importance of investigating trabecular thickness within and between species. While nondestructive imaging techniques (i.e., μCT and MRI) are becoming increasingly popular, quantification of trabecular thickness using nondestructive techniques has proved difficult owing to limitations imposed by scanning parameters, uniform thresholding, and partial volume averaging. Here we present a computer application, which aims to overcome these problems. Validation is carried out against a phantom and against trabecular thickness measured in corresponding histological sections. Good agreement was found between these measurements. Furthermore, when trabecular thickness is recorded for modern human fetal ilia, a trend toward trabecular thickness increase is found and is in line with reports of ontogenetic morphometric changes using histological sections. However, there are discrepancies. These may in part be due to partial volume effects of obliquely oriented structures. More crucial, however, are problems inherent in histological sections, e.g., shrinkage and distortion, especially where differences in mineralization are concerned; this may affect biological interpretations. Anat Rec Part A, 288A:982–988, 2006. © 2006 Wiley‐Liss, Inc.
Intrauterine death, fetal malformation, and delayed pregnancy in Ljungan virus‐infected mice
Authors: Samsioe Annika , Feinstein Ricardo , Saade George , Sjöholm Åke , Hörnfeldt Birger , Fundele Reinald , Klitz William , Niklasson Bo 
Published: August 2006

AbstractBACKGROUND: A picornavirus (Ljunganvirus [LV]) has recently been associated with disease during pregnancy in its natural rodent reservoir and in humans. A study of laboratory mice infected under controlled conditions was therefore undertaken. METHODS: CD‐1 female mice were infected gestational day two and subjected to varying regimes of stress. RESULTS: LV infection in combination with stress resulted in uterine resorptions, malformations, and neonatal death. A short delay in time to first pregnancy and births was observed in pairs infected in utero. CONCLUSIONS: LV is found in different species of native animals in both Europe and the United States and human epidemiological evidence connects LV and human reproduction, while the observations here indicate that LV is responsible for reproductive problems in a laboratory mouse model. The current findings suggest that the hypothesis that LV also causes disease in pregnant women and their offspring deserves further study. Birth Defects Res (Part B) 77, 2006. © 2006 Wiley‐Liss, Inc.
Vanadyl sulfate protects against streptozotocin‐induced morphological and biochemical changes in rat aorta
Authors: Akgün‐Dar Kadriye , Bolkent Sehnaz , Yanardag Refıye , Tunalı Sevim 
Published: August 2006

AbstractThe aim of this study was to investigate the protective effects of vanadyl sulfate on aorta tissue of normal and streptozotocin (STZ)‐induced diabetic rats, morphologically and biochemically. The animals were made diabetic by an intraperitoneal injection of streptozotocin (65 mg/kg) and vanadyl sulfate (100 mg/kg) that was given every day for 60 days by gavage technique to rats. Under the light and transmission electron microscopes, hypertrophy of the vessel wall, focal disruption in the elastic lamellae, an increase in thickness of total aortic wall, tunica intima, subendothelial space and adventitial layer, and a disorganization in smooth muscular cells of the tunica media were observed in diabetic animals. The aorta lipid peroxidation (LPO) levels were significantly increased and the aorta glutathione (GSH) levels were significantly reduced in STZ diabetic rats. In diabetic rats administered vanadyl sulfate for 60 days, aorta LPO levels significantly decreased and the aorta GSH level significantly increased. In conclusion, in vivo treatment with vanadyl sulfate of diabetic rats prevented the morphological and biochemical changes observed in thoracic aorta of diabetic animals. Copyright © 2006 John Wiley & Sons, Ltd.
Human soluble E‐selectin immunoadhesin inhibits leukemic monocyte adhesion to endothelial cells
Authors: Sung Bong Hwan , Kim Sung Hyun , Yeo Myeong Gu , Kim Jin‐Kyoo , Song Woo Keun 
Published: August 2006

AbstractImmunoadhesins are immunoglobulin (Ig)‐like chimeric proteins comprised of target‐binding regions fused to the Fc‐hinge region of Ig, and are designed to have a long half‐life and antibody‐like properties. In an effort to find a good candidate for therapeutic use for inflammatory responses, we constructed a soluble human E‐selectin immunoadhesin containing the extracellular region of human E‐selectin fused to the Fc‐hinge region of human IgG, and determined its effects on leukocyte adhesion and rolling in vitro. Our results revealed that the adhesion of leukocytes to endothelial cells was efficiently inhibited in the presence of 50 nM E‐selectin immunoadhesin. In addition, the E‐selectin immunoadhesin significantly inhibited leukocyte rolling on endothelial cells in perfusion experiments performed at 1.0 dyne/cm2 wall shear stress. These findings indicate that our E‐selectin immunoadhesin decreases leukocyte attachment and rolling in vitro, suggesting that this immunoadhesin may be a promising candidate for therapeutic anti‐inflammatory use. Copyright © 2006 John Wiley & Sons, Ltd.
Synthetic Peptide Templates for Molecular Recognition: Recent Advances and Applications
Authors: Singh Yashveer , Dolphin Gunnar T. , Razkin Jesus , Dumy Pascal 
Published: August 2006

AbstractThe creation of molecular systems that can mimic some of the properties of natural macromolecules is one of the major endeavors in contemporary protein chemistry. However, the construction of artificial proteins with predetermined structure and function is difficult on account of complex folding pathways. The use of topological peptide templates has been suggested to induce and stabilize defined secondary and tertiary structures. This is because the recent advances in the chemistry of coupling reagents, protecting groups, and solid‐phase synthesis have made the chemical synthesis of peptides with conformationally controlled and complex structures feasible. Besides their use as structure‐inducing devices, these peptide templates can also be utilized to construct novel structures with tailor‐made functions. Herein, we present recent advances in the field of peptide‐template‐based approaches with particular emphasis on the demonstrated utility of this approach in molecular recognition, along with related applications.
Single‐Chain Magnet Behavior in an Alternated One‐Dimensional Assembly of a MnIII Schiff‐Base Complex and a TCNQ Radical
Authors: Miyasaka Hitoshi , Madanbashi Tomokura , Sugimoto Kunihisa , Nakazawa Yasuhiro , Wernsdorfer Wolfgang , Sugiura Ken‐ichi , Yamashita Masahiro , Coulon Claude , Clérac Rodolphe 
Published: August 2006

AbstractAn alternated 1:1 chain compound of a MnIII salen derivative and the TCNQ monoradical was synthesized: [Mn(5‐TMAMsaltmen)(TCNQ)](ClO4)2 (1) (TCNQ=tetracyano‐p‐quinodimethane; 5‐TMAMsaltmen=N,N′‐(1,1,2,2‐tetramethylethylene) bis(5‐trimethylammoniomethylsalicylideneiminato)). Compound 1 has a zigzag chain structure packed with adjacent chains with an interchain Mn⋅⋅⋅Mn distance of over 8 Å. As compound 1 contains no crystallization solvent, the void spaces between chains are occupied only by ClO4− counter ions. Compound 1 has a structure reminiscent of what has been observed in the family of MnIII(porphyrin)‐TCNE or ‐TCNQ compounds reported previously by Miller and co‐workers and we demonstrate herein its unique single‐chain magnet behavior among this family of compounds. The direct current (dc) magnetic measurements established the one‐dimensional nature of compound 1 with an antiferromagnetic exchange coupling, J/kB≈−96 K, between the MnIII ion and TCNQ radical and with an activated correlation length (Δξ=26.5 K) at low temperatures (50–15 K). The slow relaxation of the magnetization was shown in compound 1 by the field hysteresis of the magnetization observed below 3.5 K (with a coercive field up to 14 kOe at 1.8 K). Single‐crystal magnetization measurements demonstrated the uniaxial symmetry of this compound and allowed an estimation of the anisotropy field, Ha≈97 kOe. The absence of magnetic ordered phase or spin‐glass behavior was established by heat‐capacity calorimetry measurements that exhibit no abnormality of Cp between 0.5 K and 10 K. The study of the magnetization relaxation by combined ac (alternating current) and dc techniques showed that compound 1 possesses a single relaxation time (τ). As the consequence of the finite size of the chain, the temperature dependence of τ presents two activated regimes above and below 4.5 K with τ01=2.1×10−10 s, Δτ1=94.1 K and τ02=6.8×10−8 s and Δτ2=67.7 K, respectively. The detailed analysis of these dynamics properties together with the correlation length, allows an unambiguous demonstration of the single‐chain magnet behavior in 1.