bluuebunny/crossref_metadata_2025_split huggingface dataset:
CAG repeats in restless legs syndrome
Authors: Konieczny Markus , Bauer Peter , Tomiuk Jürgen , Weisser Gabriele , Haan Jean , Berger Klaus , Riess Olaf , Schöls Ludger 
Published: January 2006

AbstractRecent reports established an association of restless legs syndrome (RLS) and spinocerebellar ataxia (SCA) type 1, 2, and 3. To evaluate the contribution of SCA alleles to idiopathic RLS we investigated the CAG repeat length at the SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 loci in 215 patients who fulfilled the clinical criteria of RLS and presented periodic leg movements in sleep (PLMS) in polysomnographic recording. Fifty percent of patients had a positive family history of RLS. We found one intermediate (CAG)43 allele for SCA17 in a 44‐year‐old female with RLS starting at the age of 43. Neurologic examination and family history were unremarkable in this patient. Otherwise, allele distribution did not differ between RLS patients and healthy controls. Stratification for age, age of onset, sex, peripheral neuropathy, and sporadic or familial RLS revealed no effect. Thus, CAG repeat length in the investigated genes is not a major determinant of idiopathic or familial RLS. © 2006 Wiley‐Liss, Inc.
The Val66Met polymorphism of the brain‐derived neurotrophic factor gene is associated with risk for psychosis: Evidence from a family‐based association study
Authors: Rosa Araceli , Cuesta Manuel J. , Fatjó‐Vilas Mar , Peralta Víctor , Zarzuela Amalia , Fañanás Lourdes 
Published: January 2006

AbstractSchizophrenia (SZ) is a prevalent and severe mental disorder. One of the most favored hypotheses for the etiology of SZ is the neurodevelopmental hypothesis. Brain‐derived neurotrophic factor (BDNF), a member of the neurotrophin growth factor family, promotes the development, regeneration, and survival of neurons and has been linked to the neuropathology of SZ. The present study tested, in a sample of 94 nuclear families, the hypothesis that the BDNF gene Val66Met polymorphism is associated to SZ and its psychopathologic phenotype using a multidimensional symptom approach. Furthermore, considering a reported reduction of BDNF in the frontal cortex of patients with SZ, we studied the relationship between this polymorphism and prefrontal function. The transmission disequilibrium test (TDT) showed a preferential transmission of allele Val from heterozygous parents to the affected offspring (P = 0.002), suggesting a possible role of this gene in the vulnerability to SZ spectrum disorders. The findings remained essentially unchanged when the analysis was restricted to the subgroup of patients with SZ (P = 0.009) and when a multidimensional approach to the diagnosis was used. Quantitative transmission disequilibrium test (QTDT) analyses did not demonstrate a significant association between the prefrontal tests assessed (Wisconsin Card Sorting Test and Trail Making Test) and the transmission of the BDNF alleles. Our finding suggests that the investigated BDNF polymorphism plays an important role in the phenotype of psychosis, but not in the performance of tests of prefrontal cognitive functions analyzed in these patients. © 2006 Wiley‐Liss, Inc.
Characteristics of the broader phenotype in autism: A study of siblings using the children's communication checklist‐2
Authors: Bishop Dorothy V.M. , Maybery Murray , Wong Dana , Maley Alana , Hallmayer Joachim 
Published: January 2006

AbstractNon‐autistic relatives of people with autistic disorder have an increased risk of social and communicative difficulties: this is known as the “broad phenotype.” Better methods for characterizing the broad phenotype are needed to facilitate identification of risk genes for autism. 29 siblings of 20 children with autistic disorder, 13 siblings of 9 children with PDDNOS, and 46 typically developing control children from 26 families were assessed by parental report using the Children's Communication Checklist‐2 (CCC‐2). Groups were matched on age and IQ and siblings with autism were excluded. Group mean scores on the CCC‐2 differed on only one subscale, syntax. However, siblings of children with autism or PDDNOS were over‐represented in the tails of the distributions of several scales, and 10 (24%) scored more than 2 SD below the control mean on a total score based on all 10 subscales. Only two of these 10 children scored above threshold on one or more scales of the Autism Diagnostic Interview—Revised (ADI‐R). Children with abnormal scores on the CCC‐2 total were characterized by low‐verbal IQ and their fathers tended to score high on the social and communication scales of the Autism Quotient, a measure of the broad phenotype in adults. The CCC‐2 shows promise as a quick screening device for the broad phenotype in non‐autistic siblings of children with autism. © 2006 Wiley‐Liss, Inc.
The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database
Authors: Robertson Laila , Hall Sonĵa E. , Jacoby Peter , Ellaway Carolyn , Klerk Nick de , Leonard Helen 
Published: January 2006

AbstractThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome Behavior Questionnaire (RSBQ) and then examined behavioral patterns as measured by the RSBQ by genetic status. There were 145 Australian cases meeting the criteria for the first arm of the study and 135 for the second arm. Comparison of the scores obtained from the British and Australian cohorts indicated that the RSBQ was a satisfactory measure for describing behaviors in Rett Syndrome (RS). Overall, there were some differences among the behavior patterns of cases with the well‐known common mutations. Fear/anxiety was more commonly reported in those with R133C and R306C. Those with the R294X mutation were more likely to have mood difficulties and body rocking but less likely to have hand behaviors and to display repetitive face movements. In contrast, hand behaviors were more commonly reported in those with R270X or R255X. We found the RSBQ is an appropriate instrument for measuring behavior in girls with RS. Some behaviors differ according to genetic mutation but there is both inter and intra mutation variation in behavior and there is a need for larger studies involving international collaboration to improve statistical power. © 2006 Wiley‐Liss, Inc.
TPH gene polymorphism and aging: Indication of combined effect on the predisposition to violent suicide
Authors: Stefulj Jasminka , Kubat Milovan , Balija Melita , Jernej Branimir 
Published: January 2006

AbstractFindings relating serotonin to suicidal behavior suggest the role of genes for tryptophan hydroxylase (TPH) in the genetic substrate of this disorder. Association ofTph1gene and suicidality, despite considerable research efforts, remains controversial. Polymorphism A218C in intron 7 ofTph1gene was studied in violent suicide victims (N = 247) and controls (N = 320) of Slavic (Croatian) origin, with specific consideration of the influence of subjects' age. The frequency of, allegedly less active, CC genotype was increased in older (above 65 years) victims as compared to controls (P = 0.0126 and 0.0008, for comparison with age‐specific and integral control samples, respectively), while there were no differences between victims under 65 years and controls. Excess of the CC genotype in elderly victims of violent suicide points to the possible combined effect of the respective genetic factor and physiological changes during aging on the predisposition to this disorder. © 2006 Wiley‐Liss, Inc.
The Cys allele of the DRD2 Ser311Cys polymorphism has a dominant effect on risk for schizophrenia: Evidence from fixed‐ and random‐effects meta‐analyses
Authors: Glatt Stephen J. , Jönsson Erik G. 
Published: January 2006

AbstractPreviously we derived independent estimates of the effect of the dopamine D2 receptor (DRD2) Ser311Cys polymorphism on risk for schizophrenia using fixed‐ and random‐effects meta‐analyses. Both analyses identified a significant association between the Cys allele and schizophrenia, but neither included all available data. Furthermore, genotype data were not evaluated in either analysis, thus precluding any determination of the mode of inheritance. The present study was conducted to resolve discrepancies between the existing meta‐analyses, and provide more comprehensive and accurate estimates of the nature and magnitude of the influence of the Ser311Cys polymorphism on risk for schizophrenia. All discrepancies between the two sets of previously meta‐analyzed studies were identified and resolved to the mutual satisfaction of the authors, and the final dataset was analyzed independently by fixed‐ and random‐effects meta‐analyses. A total of 27 samples, comprising 3,707 schizophrenia patients and 5,363 control subjects, were included in the analyses of allelic association, while smaller numbers of studies and subjects were included in each of the genotypic association analyses. A significant effect of the Cys allele was observed under both fixed‐effects (odds ratio [OR] = 1.4; P = 0.002) and random‐effects (OR = 1.4; P = 0.007) models. Cys/Ser heterozygotes were at elevated risk for schizophrenia when compared to Ser/Ser homozygotes (fixed‐ and random‐effects OR = 1.4, ps ≤ 0.005), but Cys/Cys homozygotes were at no elevated risk relative to heterozygotes (OR = 1.0, ps ≥ 0.948). There was no evidence of heterogeneity, excessive influence of any single study, or publication bias in any of the analyses, suggesting that the effect of this DRD2 polymorphism on schizophrenia risk is reliable and uniform across populations, and our estimates of its magnitude are robust and accurate. © 2006 Wiley‐Liss, Inc.
Genetic association between schizophrenia and the DISC1 gene in the Scottish population
Authors: Zhang Feng , Sarginson Jane , Crombie Caroline , Walker Nick , StClair David , Shaw Duncan 
Published: January 2006

AbstractSeveral lines of evidence support the involvement of the disrupted in schizophrenia 1 (DISC1) gene in schizophrenia susceptibility, including its original identification in a schizophrenia family with a chromosome translocation, several genetic association studies, and functional characterization of the gene product. In the present study, we have genotyped multiple SNP and microsatellite markers in a large Scottish case‐control sample. We identified two SNPs and one microsatellite that show significant association with schizophrenia. The strongest association is with a haplotype of SNPs rs751229 and rs3738401, located at the 5′ end of the gene; the C‐A haplotype of these SNPs is associated with a relative risk of schizophrenia of 5 in our population. We also observe association with a microsatellite in intron 7, but no association with markers toward the 3′ end of the gene. The results are in broad agreement with those of other genetic studies, but there are differences in terms of the precise patterns of association. This analysis further strengthens the candidacy of DISC1 as a risk factor for schizophrenia in the general population, and suggests that more intensive searching for causative variants is justified. © 2006 Wiley‐Liss, Inc.
XYY chromosome abnormality in sexual homicide perpetrators
Authors: Briken Peer , Habermann Niels , Berner Wolfgang , Hill Andreas 
Published: January 2006

AbstractIn a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7–0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy Checklist‐Revised [Hare RD, 1991, The Hare Psychopathy Checklist‐Revised, Toronto, Ontario, Canada: Multi‐Health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders. © 2006 Wiley‐Liss, Inc.
Resolution of an intra‐coronary filling defect in the proximal left anterior descending coronary artery demonstrated by 64‐slice multi‐detector computed tomography
Authors: Halon David A. , Rubinshtein Ronen , Shiran Avinoam , Lewis Basil S. 
Published: January 2006

AbstractThe evolution of acute coronary syndromes (ACS) is not always clearly understood, and our understanding has been limited by the absence of serial information regarding the coronary vasculature in these patients. We describe a young patient with an acute inferior wall myocardial infarction in whom repeat multi‐detector computed tomographic scanning (MDCT), supported by invasive studies, revealed a transient filling defect in the proximal left anterior descending coronary artery and nonobstructed circumflex and right coronary arteries. New generation 64‐slice MDCT scanning provides a new method for visualizing both the coronary lumen and coronary plaque, and may prove to be a useful tool in improving our understanding of the dynamics of ACS. © 2006 Wiley‐Liss, Inc.
Palladium(II) Chloride and a (Dipyridin‐2‐ylmethyl)amine‐Derived Palladium(II) Chloride Complex as Highly Efficient Catalysts for the Synthesis of Alkynes in Water or in NMP and of Diynes in the Absence of Reoxidant.
Authors: Gil‐Molto Juan , Najera Carmen 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
N‐Thioacyl 1,3‐Amino Alcohols: Synthesis via Ring‐Opening of Oxiranes with Thioamide Dianions and Applications as Key Intermediates Leading to Stereochemically Defined 5,6‐Dihydro‐4H‐1,3‐oxazines and 1,3‐Amino Alcohols.
Authors: Murai Toshiaki , Sano Hiroaki , Kawai Hiroyasu , Aso Hideo , Shibahara Fumitoshi 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Highly Diastereoselective Alkylation of Aziridine‐2‐carboxylate Esters: Enantioselective Synthesis of LFA‐1 Antagonist BIRT‐377.
Authors: Patwardhan Aniruddha P. , Pulgam V. Reddy , Zhang Yu , Wulff William D. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Synthesis and Antimicrobial Screening of 2′‐Hydroxy‐5′‐(phenylazo)‐N‐ (1′′,3′′‐diketophenylamine)‐3‐chloroazetidin‐2‐ones.
Authors: Halve Anand K. , Gour Poonam , Dubey Rakesh , Bhadauria Deepti , Bhaskar Bhuwan 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Synthesis of 1‐Substituted 5‐Aryl‐3‐(3‐coumarinyl)‐2‐pyrazolines by the Reaction of 3‐Aryl‐1‐(3‐coumarinyl)propen‐1‐ones with Hydrazines.
Authors: Levai Albert , Jeko Jozsef , Brahmbhatt D. I. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
An Efficient and Regiospecific Preparation of Trifluoromethyl Substituted 4‐(1H‐Pyrazol‐1‐yl)‐7‐chloroquinolines.
Authors: Bonacorso Helio G. , Cechinel Cleber A. , Oliveira Marli R. , Costa Michelle B. , Martins Marcos A. P. , Zanatta Nilo , Flores Alex F. C. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Possible Neighboring Group Participation of a Nitro‐Group in the Conversion of 3‐Hydroxymethyl‐2‐(2‐nitrophenyl)‐1,2,3,4‐tetrahydroisoquinoline into Its 3‐Chloromethyl Derivative.
Authors: Donaghy Michael J. , Stanforth Stephen P. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Synthesis of α‐Carbolines by Copper‐Catalyzed Radical Cyclization of β‐(3‐Indolyl) Ketone O‐Pentafluorobenzoyloximes.
Authors: Tanaka Kenichi , Kitamura Mitsuru , Narasaka Koichi 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Azinyl Sulfides. Part 86. Derivatives of Some Cyclic 3,4‐Quinolinediyl Bis‐sulfides with N,N‐Dimethylcarbamoyl and N‐Methyl‐N‐formylaminomethyl Substituents in the 2‐Quinolinyl Position.
Authors: Maslankiewicz Andrzej , Michalik Ewa 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Preparation of 2‐Amino‐5‐methyl‐7H‐1,3,4‐thiadiazolo[3,2‐a]pyrimidin‐7‐ones.
Authors: Safarov Saifidin , Kukaniev Muhamacho Ahmadovich , Kolshorn Heinz , Meier Herbert 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
The Reaction of Amino‐Imidazoles, ‐Pyrazoles and ‐Triazoles with α,β‐Unsaturated Nitriles.
Authors: Komykhov Sergey A. , Ostras Konstantin S. , Kostanyan Alvard R. , Desenko Sergey M. , Orlov Valery D. , Meier Herbert 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Discovery and in vitro Evaluation of Potent Kinase Inhibitors: Pyrido[1′,2′:1,5]pyrazolo[3,4‐d]pyrimidines.
Authors: Alberti Michael J. , Auten Elizabeth P. , Lackey Karen E. , McDonald Octerloney B. , Wood Edgar R. , Preugschat Frank , Cutler Geoffrey J. , Kane‐Carson Laurie , Liu Wei , Jung David K. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Highly β‐Selective Mannosylation Towards Manβ1‐4GlcNAc Synthesis: TMSB(C6F5)4 as a Lewis Acid/Cation Trap Catalyst.
Authors: Tanaka Shin‐ichi , Takashina Mamoru , Tokimoto Hiroomi , Fujimoto Yukari , Tanaka Katsunori , Fukase Koichi 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Electrochemical and Electronic Properties of Nanocrystalline TiNi1‐xMx (M: Mg, Mn, Zr; x = 0, 0.125, 0.25) Ternary Alloys.
Authors: Szajek A. , Makowiecka M. , Jankowska E. , Jurczyk M. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Diastereoselective Alkylation of Chiral 2‐Imidazolidinone Glycolates: Asymmetric Synthesis of α‐Hydroxy Carboxylic Acids.
Authors: Chun Chong Chul , Lee Gue‐Jae , Kim Jae Nyoung , Kim Taek Hyeon 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Deprotection of Benzyl Ethers Using 2,3‐Dichloro‐5,6‐dicyano‐p‐benzoquinone (DDQ) under Photoirradiation.
Authors: Rahim Mohammad Abdur , Matsumura Shuichi , Toshima Kazunobu 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
NaBH4—InCl3‐Mediated One‐Pot Chemo‐ and Stereoselective Decarboxylative Reduction of α‐Aza gem‐Dicarboxylate Esters to Monoalcohols.
Authors: Haldar Pranab , Ray Jayanta K. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Synthesis, Characterization and Antibacterial Activity Studies on Some Fluorine‐Containing Quinoline‐4‐carboxylic Acids and Their Derivatives.
Authors: Holla B. Shivarama , Poojary K. Narayana , Poojary Boja , Bhat K. Subrahmanya , Kumari N. Suchetha 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
One‐Pot Three‐Component Synthesis of 9‐Arylpolyhydroacridine Derivatives in an Ionic Liquid Medium.
Authors: Li Yu‐Ling , Zhang Mei‐Mei , Wang Xiang‐Shan , Shi Da‐Qing , Tu Shu‐Jiang , Wei Xian‐Yong , Zong Zhi‐Min 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Avoiding Pyran Ring Opening During Palladium Acetate Catalyzed C‐Glycosidation of Peracetylated Glycals.
Authors: de la Figuera Natalia , Forns Pilar , Fernandez Joan‐Carles , Fiol Sandra , Fernandez‐Forner Dolors , Albericio Fernando 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Modelling of Anisotropic Exchange Coupling in Rare‐Earth—Transition‐Metal Pairs: Applications to Yb3+—Mn2+ and Yb3+—Cr3+ Halide Clusters and Implications to the Light Up‐Conversion
Authors: Atanasov M. , Daul C. , Gudel H. U. 
Published: January 2006

AbstractFor Abstract see ChemInform Abstract in Full Text.
Reproducibility of the diagnosis of atypical endometrial hyperplasia
Authors: Zaino Richard J. , Kauderer James , Trimble Cornelia Liu , Silverberg Steven G. , Curtin John P. , Lim Peter C. , Gallup Donald G. 
Published: January 2006

AbstractBACKGROUNDMost gynecologists determine therapy based on current International Society of Gynecologic Pathologists (ISGP)/World Health Organization classification of endometrial hyperplasia, the reproducibility of which has been questioned. The Gynecologic Oncology Group (GOG) initiated a protocol to assess the efficacy of hormonal therapy of atypical endometrial hyperplasia (AEH). Primary goals of the first phase (Part A) were to prospectively determine reproducibility of referring institution's pathologist's diagnosis of AEH by a panel of 3 gynecologic pathologists and to determine reproducibility of diagnoses by panel members.METHODSThree hundred six women were entered on this protocol with a referring institution's pathologist diagnosis of AEH based on biopsy or curettage. Available slides were assessed independently and interpreted by each of a panel of 3 gynecologic pathologists who used International Society of Gynecologic Pathologists (ISGP)/World Health Organization criteria. The majority diagnosis was based on diagnostic concordance by at least 2 of the 3 panelists.RESULTSThe referring institution's pathologist's diagnosis of AEH was supported by the majority of the panel in only 38% of cases. Overall kappa value for the panel diagnosis of AEH was 0.28. The majority diagnosis was adenocarcinoma in 29%, cycling endometrium in 7%, and nonatypical hyperplasia in 18% of cases. Unanimous agreement for any diagnosis was reached among all 3 of the panel in 40% of cases. For the panel, paired kappa values for any diagnosis ranged 0.34–0.43, with an overall kappa value of 0.40.CONCLUSIONReproducibility of referring institution's pathologists' diagnosis of AEH by a panel of gynecologic pathologists is poor. Both underestimation and overestimation of the severity of the lesion are very common. The level of reproducibility among subspecialist panel members for diagnosis of AEH in these specimens also is poor. Better criteria and better sampling are needed to improve reproducibility of this diagnosis, particularly if it is to be used for clinical decisions. Cancer 2006. © 2006 American Cancer Society.
Cover Picture: Silanediol Protease Inhibitors: From Conception to Validation (Eur. J. Org. Chem. 2/2006)
Authors: Sieburth Scott McN. , Chen Chien‐An 
Published: January 2006

AbstractThe cover picture shows the pathway of silicon from its natural source to an organosilane protease inhibitor. Nearly all silicon exists in the form of silica, commonly encountered as sand. Silica is reduced to silicon, some becoming computer chips and some converted to organosilanes using the Müller‐Rochow (Direct) Process, which transforms chloromethane and chlorobenzene to methyl‐ and phenyl‐substituted chlorosilanes, respectively. When the two small, commercially available reagents at the bottom of the picture are subjected to a sequence of chemical reactions, they are converted into the three silanediol‐based peptide mimics at the top, which are nanomolar inhibitors of the three enzymes angiotensin‐converting enzyme (ACE), HIV protease, and thermolysin (left to right). Details are presented in the Microreview by S. McN. Sieburth and C.‐A. Chen on page 311 ff.
The promise of nanotechnology for separation devices – from a top‐down approach to nature‐inspired separation devices
Authors: Eijkel Jan C. T. , van den Berg Albert 
Published: January 2006

AbstractAn overview is given of the possible applications of nanotechnology to optimise existing separation methods and to enable new methods. Attention is paid to nanotechnological contributions in the fields of HPLC, CEC, sieves, Brownian ratchets and preconcentration units. A brief description is also given of some selection/separation mechanisms that occur in biological (cell) structures and possible future applications of these mechanisms in separation devices are investigated. Especially the active transport in discrete events occurring in cells is mentioned as a potentially powerful separating mechanism.