bluuebunny/crossref_metadata_2025_split huggingface dataset:
Founder SVA retrotransposal insertion in Fukuyama‐type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations
Authors: Watanabe Masashi , Kobayashi Kazuhiro , Jin Feng , Park Kyung Sook , Yamada Takatsugu , Tokunaga Katsushi , Toda Tatsushi 
Published: October 2005

AbstractFukuyama‐type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in Japan, is characterized by congenital muscular dystrophy associated with brain malformation due to a defect in neuronal migration. Previously, we identified the gene responsible for FCMD, which encodes the fukutin protein. Most FCMD‐bearing chromosomes (87%) are derived from a single ancestral founder, who lived 2,000–2,500 years ago and whose mutation consisted of a 3‐kb retrotransposal insertion in the 3′ non‐coding region of the fukutin gene. Here we show, through detailed sequence analysis, that the founder insertion is derived from the SINE‐VNTR‐Alu (SVA) retroposon. To enable rapid detection of this insertion, we have developed a PCR‐based diagnostic method that uses three primers simultaneously. We used this method to investigate the distribution and origin of the founder insertion, screening a total of 4,718 control DNA samples from Japanese and other Northeast Asian populations. Fifteen founder chromosomes were detected among 2,814 Japanese individuals. Heterozygous carriers were found in various regions throughout Japan, with an averaged ratio of 1 in 188. In Korean populations, we detected one carrier in 935 individuals. However, we were unable to detect any heterozygous alleles in 203 Mongolians and 766 Mainland Chinese populations. These data largely rule out the possibility that a single ancestor bearing an insertion‐chromosome immigrated to Japan from Korea or Mainland China and appear to confirm that FCMD carriers are rare outside of Japan. © 2005 Wiley‐Liss, Inc.
Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array‐based comparative genomic hybridization
Authors: Hayashi Shin , Kurosawa Kenji , Imoto Issei , Mizutani Shuki , Inazawa Johji 
Published: October 2005

AbstractMental retardation (MR) is one of the most common phenotypes in congenital disorders, but in many cases the pathogenesis remains unknown. Here, we report on a 5‐year‐old boy with mild developmental disability, cranial malformation, minor anomalies, and moderate MR. G‐banded chromosome analysis revealed that he carried an apparent balanced translocation, t(1;9)(p34.2;p24). However, our array‐based comparative genomic hybridization (CGH‐array) analysis detected a cryptic genomic duplication and a deletion at the breakpoints. Further fluorescence in situ hybridization (FISH) showed that the duplication was approximately 7.9 Mb in size at 1p34.3‐p33, and the deletion was 4 Mb at 9pter‐p24. Although some features of the patient were consistent with those of monosomy 9p‐syndrome, his features were not typical of cases of the syndrome, suggesting that the small deletion region involved in 9p may limit his phenotype. On the other hand, interstitial duplication at 1p34.3‐p33 is very rare and his phenotype did not match with that in previous reports. CGH‐array is a potentially useful technique for investigating cryptic copy‐number alterations in cases of apparently balanced chromosome rearrangements in patients with unexpected clinical features. © 2005 Wiley‐Liss, Inc.
Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): Deletion/duplication of 7q33‐34 and clinical correlations
Authors: Malmgren H. , Malm G. , Sahlén S. , Karlsson M. , Blennow Elisabeth 
Published: October 2005

AbstractA balanced insertional translocation between chromosomes 6 and 7, ins(6;7)(p25;q33q34) has been extensively investigated. The insertional translocation was found in several members of a three‐generation family, where some were healthy balanced carriers while others had clinical symptoms due to deletion or duplication of 7q33‐34. The deleted/duplicated segment could only be detected using high resolution banding and fluorescent in situ hybridization. A number of BAC/PAC clones located on chromosome 6 and 7 were used to characterize the breakpoint regions in detail and to determine the size of the deletion, which was 7.6 Mb, containing up to 68 genes. However, the insert on chromosome 6 was only 7.4 Mb, due to a deletion of 227 kb at the distal breakpoint on 7q. This small deletion was also found in the “balanced” carriers, and although the chromosome segment contains at least eight genes, none of the carriers seem to be affected by haploinsufficiency, since the phenotype is apparently normal. This is the first detailed characterization and phenotype correlation of such a deletion/duplication of distal 7q. © 2005 Wiley‐Liss, Inc.
Frontal lobe epilepsy and mutations of the corticotropin‐releasing hormone gene
Authors: Combi Romina , Dalprà Leda , Ferini‐Strambi Luigi , Tenchini Maria L. 
Published: October 2005

AbstractNocturnal frontal lobe epilepsy up to now has been considered a channelopathy caused by mutations in the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. However, these mutations account for only a minority of patients, and the existence of at least a new locus for the disease has been demonstrated. In one Italian nocturnal frontal lobe epilepsy family, we identified two new putative loci on chromosomes 3 and 8, where several candidate genes are mapped. In particular, on chromosome 8, corticotropin‐releasing hormone gene (CRH) appears to be a good candidate. We therefore searched for CRH mutations in the proband. The study allowed the identification of a nucleotide variation in the promoter that was subsequently detected in all affected and obligate carrier members of the same family, in two sporadic cases, in all affected members of an additional compliant family, and in the proband of a noncompliant family. Moreover, a different mutation in the promoter was detected in a familial case. In vitro experiments showed altered levels of gene expression. CRH alterations could explain several autosomal dominant nocturnal frontal lobe epilepsy clinical features. Ann Neurol 2006
Syntheses and properties of a thiacrown ether and its acyclic model compound modified with germanium moieties
Authors: Ida Toshihiro , Takase Yutaka , Takeuchi Yoshito 
Published: October 2005

AbstractA thiacrown ether (1) and its acyclic model compound (2), modified with germanium moieties, were synthesized and their structures confirmed by NMR spectrometry and elemental analysis. The germanium atom, located in one of the side chains of 2, is pentacoordinated by virtue of a weak hypervalent O → Ge interaction. The cation capture/transport ability is almost null for both compounds, probably owing to the proximity of the cation and anion binding sites. Copyright © 2005 John Wiley & Sons, Ltd.
Embryotoxicity studies of tri‐n‐butyltin(IV) complexes of 5‐[(E)‐2‐(aryl)‐1‐diazenyl]‐2‐hydroxybenzoic acid and 2‐[(E)‐2‐(3‐formyl‐4‐hydroxyphenyl)‐1‐diazenyl] benzoic acid on sea urchin development
Authors: Basu Baul Tushar S. , Rynjah Wandondor , Singh Keisham Surjit , Pellerito Claudia , D'Agati Paolo , Pellerito Lorenzo 
Published: October 2005

AbstractThe toxicity studies of free 5‐[(E)‐2‐(aryl)‐1‐diazenyl]‐2‐hydroxybenzoic acid and 2‐[(E)‐2‐(3‐formyl‐4‐hydroxyphenyl)‐1‐diazenyl]benzoic acid and their tri‐n‐butyltin(IV) complexes were evaluated by using sea urchin early developmental stages as recommended model organisms for toxicity tests. The novel complexes, as the parent tri‐n‐butyltin(IV) chloride (TBTCl), caused mitosis block and induced high embryonic mortality in sea urchin. Copyright © 2005 John Wiley & Sons, Ltd.
Facile synthesis of pyridinium aryltetrachlorotellurates: crystal and molecular structure of [C5H6N][RTeCl4] (R = m‐O2NC6H4, p‐NCC6H4)
Authors: Beckmann Jens , Duthie Andrew , Mitchell Cassandra 
Published: October 2005

AbstractArylation of TeCl4 with arylboroxine–pyridine complexes [(RBO)3·C5H5N, where R = m‐O2NC6H4 (1), p‐O2NC6H4 (2), m‐NCC6H4 (3), p‐NCC6H4 (4)] and advantageous moisture provided good yields of the pyridinium aryltetrachlorotellurates [C5H6N][RTeCl4] [R = m‐O2NC6H4 (5), p‐O2NC6H4 (6), m‐NCC6H4 (7), p‐NCC6H4 (8)]. Compounds 5 and 8 have been investigated by X‐ray crystallography. Key features of both crystal structures are intermolecular secondary TeċċċCl interactions between the aryltetrachlorotellurate anions and weak association of the cations and anions. Electrospray mass spectra of compound 5 reveal that the associative interactions also play a role in solution. Copyright © 2005 John Wiley & Sons, Ltd.
Synthesis and crystal structure of three nido 11‐vertex platinaborane clusters
Authors: Dou Jianmin , Wu Libin , Guo Qingliang , Li Dacheng , Wang Daqi , Hu Chunhua , Zheng Peiju 
Published: October 2005

AbstractThe reaction of [PtCl2(PPh3)2] with closo‐B10H102− in ethanol under reflux conditions gave two nido 11‐vertex platinaundecaborane clusters: [(PPh3)2PtB10H10‐8,10‐(OEt)2]·CH2Cl2 (1) and [(PPh3)2PtB10H11‐11‐OEt]·CH2Cl2 (2). A novel B10H102− deboronated nido 11‐vertex diplatinaundecaborane [(µ‐PPh2)(PPh3)2Pt2B9H6‐3,9,11‐(OEt)3]·CH2Cl2 (3) was obtained when the same reaction was carried out under solvothermal conditions. All of these compounds were characterized by infrared spectroscopy, NMR spectroscopy, elemental analysis and single‐crystal X‐ray diffraction. Both clusters 1 and 2 have a nido 11‐vertex {PtB10} polyhedral skeleton in which the Pt atom lies in the open PtB4 face. Each Pt atom connects with four B atoms and two P atoms of the PPh3 ligands. Cluster 3 has a nido 11‐vertex {Pt2B9} polyhedral skeleton in which two Pt atoms sit in neighbouring positions of the open Pt2B3 face, bridged by a PPh2 group. Each Pt atom connects three B atoms and a P atom of the PPh3 ligand. Copyright © 2005 John Wiley & Sons, Ltd.
1,3‐Dihydro‐1‐hydroxy‐3‐morpholin‐4‐yl‐2,1‐benzoxaborole: product of the reaction of o‐formylphenylboronic acid with morpholine
Authors: Sporzyński Andrzej , Lewandowski Michał , Rogowska Paulina , Cyrański Michał K. 
Published: October 2005

Abstracto‐Formylphenylboronic acid reacts with morpholine to form 1,3‐dihydro‐1‐hydroxy‐3‐morpholin‐4‐yl‐2,1‐benzoxaborole. The typical hydrogen‐bonded dimer motif with a planar benzoxaborole fragment has been obtained in the solid state. Copyright © 2005 John Wiley & Sons, Ltd.
Facile synthesis of a tricyclohexylphosphine‐stabilized η3‐allyl‐carboxylato Ni(II) complex and its relevance in electrochemical butadiene carbon dioxide coupling
Authors: Schulz Peter S. , Walter Olaf , Dinjus Eckhard 
Published: October 2005

AbstractWith the reaction of bis(1,5‐cyclooctadiene)nickel(0) andtrans‐penta‐2,4‐dienoic acid in the presence of tricyclohexylphosphine, a new more general method was developed to synthesize cyclic π3‐allyl‐carboxylato Ni(II) complexes, which are known to be intermediates in the CC coupling of butadiene and CO2. The cyclic π3‐allyl‐carboxylato Ni(II) complex obtained is tested as a mediator in the electrochemical coupling reaction of butadiene and carbon dioxide. We also demonstrate the dependency on the coordination sphere by using platinum instead of nickel as the metal center. Copyright © 2005 John Wiley & Sons, Ltd.
Synthesis of CdS Micorpheres by a Hydrothermal Microemulsion Method
Authors: Xu Sheng , Peng Qing 
Published: October 2005

AbstractCdS micropheres were prepared by a hydrothermal microemulsion method in cyclohexane/Triton X‐100/pentanol/water at 180 °C. The as‐prepared samples were characterized by X‐ray diffraction analysis, transmission electron microscopy, electron diffraction, energy diffraction X‐ray analysis and photoluminescence spectra. It was found that CdS microspheres with diameter of 1.5–2.5µm were aggregated by nanocrystals. The formation mechanism was proposed.
Investigation of Microstructures and Anti‐corrosion Properties of Aluminium‐Zinc Alloys
Authors: Qi Zhong‐Nan , Zhang Chang‐Qiao , Wang Ruo‐Xi , Liu Cheng‐Bu , Chen Zheng‐Long 
Published: October 2005

AbstractElectro‐chemical experiment was carried out to test the corrosion rates of aluminium‐zinc hot‐dip coating. It is shown that 5.3% aluminium‐zinc alloy (weight ratio) has superior anti‐corrosion property. The determined microstructure has displayed amorphous structure composed of nanometer sized particle of the system. The analysis indicated large negative change of Gibbs energy of 5.3% aluminium‐zinc system. Molecular dynamics simulation showed that 5.3% aluminium‐zinc system has very different behavior from other systems. A phase transition of this particular system was observed from simulation. The transition temperature was determined around 400 K. The simulation indicated that 5.3% aluminium‐zinc system is amorphous over temperature range from 300 to 900 K, supporting the inference from experiments that amorphous solid of aluminium‐zinc alloy has special anti‐corrosion character.
Synthesis and Characterization of Bis(guanidinate) Zirconium Complexes
Authors: Pang Xing‐An , Yao Ying‐Ming , Wang Jun‐Feng , Sheng Hong‐Ting , Zhang Yong , Shen Qi 
Published: October 2005

AbstractAddition of one equivalent of LiN(i‐Pr)2 or LiN(CH2)5 to carbodiimides, RNCNR [R=cyclohexyl (Cy), isopropyl (i‐Pr)], generated the corresponding lithium of tetrasubstituted guanidinates {Li[RNC(N R2′)NR](THF)}2 [R=i‐Pr, N R2′=N(i‐Pr)2 (1), N(CH2)5 (2); R=Cy, N R2′=N(i‐Pr) 2 (3), N(CH2)5 (4)]. Treatment of ZrCl4 with freshly prepared solutions of their lithium guanidinates provided a series of bis(guanidinate) complexes of Zr with the general formula Zr[RNC(N R2′)NR]2Cl2 [R=i‐Pr, NR2′=N(i‐Pr) 2 (5), N(CH2)5 (6); R=Cy, N R2′=N(i‐Pr)2 (7), N(CH2)5 (8)]. Complexes 1, 2, 5–8 were characterized by elemental analysis, IR and 1H NMR spectra. The molecular structures of complexes 1, 7 and 8 were further determined by X‐ray diffraction studies.
Reaction of Enaminones with Aminopyrazoles: Synthesis, Structures and Bioactivities of 7‐Aryl‐3‐cyano‐2‐substituted Pyrazolo[1,5‐a] pyrimidines
Authors: Wen Li‐Rong , Wang Shu‐Wen , Li Ming , Yang Hua‐Zheng 
Published: October 2005

AbstractThe condensation reactions of 5‐amino‐4‐cyano‐3‐substituted‐1H‐pyrazole 2 or 3 with enaminones 1 in the presence of glacial acetic acid gave twelve new 7‐aryl‐3‐cyano‐2‐substituted pyrazolo[1,5‐a]pyrimidines 4 and 5 at room temperature. Their structures were characterized by elemental analysis, IR and 1H NMR. The structure of 4a was further confirmed by X‐ray crystallography analysis. A plausible reaction mechanism for the formation of the title compounds was also proposed. The bioassay tests showed that compounds 4a, 4c, 4e, 4f, 5a and 5d possessed moderate herbicidal activity.
New Aspects in the Chemistry of Three‐membered Ring Compounds Containing a Highly Coordinate Main Group Element
Authors: Takayuki Kawashima 
Published: October 2005

Abstract The title compounds were synthesized by taking advantage of the Martin ligand. Their structures were determined by X‐ray crystallography. Pentacoordinate thiasiliranides were hydrolyzed to give the corresponding thiol. Pentacoordinate chalcogenaphosphiranes were found to have polar P‐chalcogen bonds, which were confirmed by their reactions with CF 3SO3Me to give the corresponding 1‐(methylchalcogena)alkylphosphonium triflates and by the solvent‐dependent NMR studies.
Reactions of Hydroxyl Radical with Salicylic Acid Derivatives: A Pulse Radiolysis Study
Authors: Ma Jian‐Hua 
Published: October 2005

AbstractBased on pulse radiolysis of aqueous solutions of two salicylic acid derivatives including ethyl salicylate and benzylsalicylate the transient absorption spectra and the rate constants of hydroxyl radical with salicylic acid derivatives were determined for the first time. The results indicated that ethyl salicylate and benzylsalicylate have efficient activities to scavenge hydroxyl radical.
Heteropolyacid‐catalyzed Reaction of Epoxides with Ketones: Efficient Synthesis of 1,3‐Dioxolane Derivatives
Authors: He Jun‐Yi , Gao Fei‐Xue , Hua Rui‐Mao 
Published: October 2005

AbstractAn efficient method for the preparation of 1,3‐dioxolanes via the coupling of epoxides with ketones catalyzed by heteropolyacids at ambient temperature has been described.
The impact of receiving genetic test results on general and cancer‐specific psychologic distress among members of an African‐American kindred with a BRCA1 mutation
Authors: Kinney Anita Yeomans , Bloor Lindsey E. , Mandal Diptasri , Simonsen Sara Ellis , Baty Bonnie Jeanne , Holubkov Richard , Seggar Kate , Neuhausen Susan , Smith Ken 
Published: October 2005

AbstractBACKGROUNDNumerous studies have examined short‐term and long‐term psychologic responses to genetic testing for breast/ovarian carcinoma susceptibility in clinic samples and among families who participated in genetic linkage studies. However, to the authors' knowledge, the vast majority of studies focused on non‐Latino whites and women. In this prospective study, the authors investigated the psychologic impact of receiving carrier‐specific BRCA1 test results as part of a genetic education/counseling intervention in female and male members of an African‐American kindred with a BRCA1 mutation.METHODSEighty‐five of 101 participating kindred members (84%) underwent genetic counseling/education and testing according to an established protocol. Participants completed in‐person or telephone‐administered, computer‐assisted interviews. At baseline and after the receipt of test results (1 mo, 4 mos, and 12 mos), general psychologic distress (i.e., anxiety and depression) and cancer‐specific distress were measured. Statistical analyses were performed using linear mixed‐model approaches for longitudinal data.RESULTSThe hypothesis that mutation carriers, particularly women who had no personal history of breast carcinoma, were expected to report greater distress than noncarriers was not supported. After controlling for socioeconomic status and personal history of breast/ovarian carcinoma, noncarriers reported significant declines in the distress measures (depressive symptoms, anxiety and cancer‐related worries), whereas distress was not altered markedly in carriers after genetic risk notification.CONCLUSIONSThe current findings suggested that individuals receiving BRCA1 test results who learn that they are not carriers of a deleterious mutation may experience psychologic benefits. Furthermore, those who learned that they were mutation carriers did not appear to have adverse, clinically meaningful psychologic outcomes. Cancer 2005. © 2005 American Cancer Society.
Differential expression of insulin‐like growth factor binding protein 1 and ferritin light polypeptide in gestational trophoblastic neoplasia
Authors: Feng Hui‐Chen , Tsao Sai‐Wah , Ngan Hextan Y.S. , Xue Wei‐Cheng , Chiu Pui‐Man , Cheung Annie N.Y. 
Published: October 2005

AbstractBACKGROUNDHydatidiform mole (HM), the most common type of gestational trophoblastic diseases, can be considered as placenta with abnormal chromosome composition with potential of malignant transformation. Few biologic markers can predict subsequent development of persistent gestational trophoblastic neoplasia (GTN) requiring chemotherapy.METHODSSuppression subtractive hybridization (SSH) combined with cDNA microarray was used to compare the differential expression pattern of HM that spontaneously regressed and that subsequently developed metastatic GTN. Tissue‐specific chips were constructed from the subtracted cDNA libraries, followed by cDNA microarray analysis. Verification by quantitative RNA analysis by real‐time polymerase chain reaction (PCR) and immunohistochemical analysis was performed in 23 genotyped complete HM.RESULTSSixteen differentially expressed transcripts were identified. Quantitative RNA analysis confirmed down‐regulation of ferritin light polypeptide (FTL) (P = 0.037) and insulin‐like growth factor binding protein 1 (IGFBP1) (P = 0.037) in HM that subsequently developed GTN when compared with those HM that regressed. Immunohistochemical analysis further confirmed reduced IGFBP1 protein (P = 0.03) expression in HM that developed GTN.CONCLUSIONSFindings showed that reduced expression of genes related to cell invasion and immunosuppression, especially FTL and IGFBP1, were associated with development of GTN, and this finding may provide a better understanding of the pathogenesis of GTN. The potential application of FTL and IGFBP1 in management of patients with HM should be explored. Cancer 2005. © 2005 American Cancer Society.
The relationship between peripheral glucose utilisation and insulin sensitivity in the regulation of hepatic glucose production: studies in normal and alloxan‐diabetic dogs
Authors: Christopher M. J. , Rantzau C. , Alford F. P. 
Published: October 2005

AbstractBackgroundHepatic glucose overproduction (HGP) of diabetes could be primary or could occur in response to the metabolic needs of peripheral (skeletal muscle (SkM)) tissues. This question was tested in normal and diabetic dogs.MethodsHGP, SkM glucose uptake (Rdtissue), metabolic clearance of glucose (MCRg) and glycolytic flux (GFexog), and SkM biopsies were measured in the same dogs before and after alloxan‐induced diabetes. Normal dogs were exposed to (1) an extended 20‐h fast, (2) low‐ and high‐dose glucose infusions (GINF) at basal insulinaemia, and chronic diabetic dogs were exposed to (3) hyperglycaemia, (4) phlorizin‐induced normoglycaemia, and (5) poor and good diabetic control.Results(1) Prolonged fast: HGP, Rdtissue, and GFexog fell in parallel (p < 0.05). (2) Low‐dose GINF: plasma glucose, insulin, Rdtissue, MCRg, and GFexog were unchanged, but HGP fell by ∼40%, paralleling the supplemental GINF. (3) High‐dose GINF at basal insulin: plasma glucose doubled and synchronous changes in HGP, Rdtissue, MCRg, and GFexog occurred; ICglucose, G6P, and glycogen were unchanged. (4) Hyperglycaemic diabetes: HGP was raised (p < 0.05), matching urinary glucose loss (UGL) and decreased MCRg, and maintaining normal basal Rdtissue and GFexog. SkM ICglucose was increased and glycogen decreased (both p < 0.05). (5) Phlorizin‐induced normoglycaemia in diabetic dogs: HGP rose, matching the increased UGL, while maintaining normal Rdtissue and GFexog. Intramuscular substrates normalised. (6) Whole body and SkM metabolism normalised with correction of the insulin resistance and good diabetic control.ConclusionHGP reflects whether SkM is in a state of relative glucose ‘excess’ or absolute/relative glucose ‘deprivation’. Copyright © 2005 John Wiley & Sons, Ltd.
Immunological mechanisms associated with long‐term remission of human type 1 diabetes
Authors: Karges Beate , Durinovic‐Belló Ivana , Heinze Eberhard , Debatin Klaus‐Michael , Boehm Bernhard , Karges Wolfram 
Published: October 2005

AbstractBackgroundPreservation of beta cell function is a central goal in type 1 diabetes (type 1 DM) immune intervention. The characterization of individuals with recovery from established type 1 DM should provide insight into regulatory mechanisms of beta cell autoimmunity.MethodsWe studied a patient with antibody‐positive type 1 DM with complete recovery of beta cell function for an observation period of 60 months. Using a preproinsulin (PPI) peptide library approach and in vitro cytokine profiling, cellular autoimmunity was characterized in peripheral blood mononuclear cells (PBMC) and CD4+ T‐helper cell subsets.ResultsA predominant secretion of interleukin‐10 (IL‐10) was detected in the patient's PBMC, mostly attributable to naïve and recently primed CD45+RA+ T cells, with limited PPI epitope recognition. In contrast to a cohort of patients with permanent type 1 DM, interferon‐γ secretion was low in PBMC and CD45+RA+, but not in CD45+RA− insulin‐reactive T lymphocytes. Autoantibodies against islet cells, tyrosine phosphatase IA‐2, GAD65 and insulin were positive at diabetes onset, but gradually declined during follow‐up.ConclusionsOur observations support the concept that IL‐10‐dependent regulatory CD4+ T‐cell pathways are involved in beta cell recovery after the onset of hyperglycemia in autoimmune type 1 DM. Copyright © 2005 John Wiley & Sons, Ltd.