bluuebunny/crossref_metadata_2025_split huggingface dataset:
Several genomic regions potentially containing QTLs for bone size variation were identified in a whole‐genome linkage scan
Authors: Deng Hong‐Wen , Shen Hui , Xu Fu‐Hua , Deng Hongyi , Conway Theresa , Liu Yong‐Jun , Liu Yao‐Zhong , Li Jin‐Long , Huang Qing‐Yang , Davies K.M. , Recker Robert R. 
Published: May 2003

AbstractBone size is an important determinant of osteoporotic fractures. For a sample of 53 pedigrees that contains more than 10,000 relative pairs informative for linkage analyses, we performed a whole‐genome linkage scan using 380 microsatellite markers to identify genomic regions that may contain QTLs of bone size (two dimensional measurement by dual energy X‐ray absorptiometry). We conducted two‐ and multi‐point linkage analyses. Several potentially important genomic regions were identified. For example, the genomic region 17q23 may contain a QTL for wrist (ultra distal) bone size variation; a LOD score of 3.98 is achieved at D17S787 in two‐point analyses and a maximum LOD score (MLS) of 3.01 is achieved in multi‐point analyses in 17q23. 19p13 may contain a QTL for hip bone size variation; a LOD score of 1.99 is achieved at D19S226 in two‐point analyses and a MLS of 2.83 is achieved in 19p13 in multi‐point analyses. The genomic region identified on chromosome 17 for wrist bone size seems to be consistent with that identified for femur head width variation in an earlier whole‐genome scan study. The genomic regions identified in this study and an earlier investigation on one‐dimensional bone size measurement by radiography are compared. The two studies may form a basis for further exploration with larger samples and/or denser markers for confirmation and fine mapping studies to eventually identify major functional genes and the associated etiology for osteoporosis. © 2003 Wiley‐Liss, Inc.
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene
Authors: Fridman C. , Hosomi N. , Varela M.C. , Souza A.H. , Fukai K. , Koiffmann C.P. 
Published: May 2003

AbstractAngelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, speech impairment, ataxia, and happy disposition with frequent smiling. AS results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11‐q13 region, due to different mechanisms: maternal deletion, paternal UPD, imprinting center mutation, and UBE3A mutation. Deletion AS patients may exhibit hypopigmentation of skin, eye, and hair correlating with deletion of P gene localized in the distal part of Prader‐Willi (PWS)/AS region. Our patient presented developmental delay, severe mental retardation, absence of speech, outbursts of laughter, microcephaly, ataxia, hyperactivity, seizures, white skin, no retinal pigmentation, and gold yellow hair. His parents were of African ancestry. The SNURF‐SNRPN methylation analysis confirmed AS diagnosis and microsatellite studies disclosed deletion with breakpoints in BP2 and BP3. All of the 25 exons and flanking introns of the P gene of the patient, his father, and mother were investigated. The patient is hemizygous for the deleted exon 7 of the P gene derived from his father who is a carrier of the deleted allele. Our patient manifests OCA2 associated with AS due to the loss of the maternal chromosome 15 with the normal P allele, and the paternal deletion in the P gene. As various degrees of hipopygmentation are associated with PWS and AS patients, the study of the P gene in a hemizygous state could contribute to the understanding of its effect on human pigmentation during development and to disclose the presence of modifier pigmentation gene(s) in the PWS/AS region. © 2003 Wiley‐Liss, Inc.
Common variant in betaine‐homocysteine methyltransferase (BHMT) and risk for spina bifida
Authors: Morin Isabelle , Platt Robert , Weisberg Ilan , Sabbaghian Nelly , Wu Qing , Garrow Timothy A. , Rozen Rima 
Published: May 2003

AbstractNeural tube defects (NTD) are common malformations resulting from incomplete closure of the neural tube in the first month after conception. Since genetic deficiencies in folate‐dependent homocysteine metabolism have been identified in NTD families, we investigated a common variant in betaine‐homocysteine methyltransferase (BHMT), 742G→A (R239Q), as a genetic modifier of NTD risk. Genotypes, nutrient levels, and plasma total homocysteine (tHcy) were assessed in 54 patients with spina bifida, 57 mothers of patients, 93 control children, and 86 mothers of controls. The QQ genotype (present in 17% and 7% of the control and case mothers, respectively, and in 12% and 6% of the control and case children, respectively) was associated with a decreased risk of NTD (odds ratios of 0.52 (95% CI 0.13–2.05) for children and 0.37 (95% CI 0.11–1.22) for mothers). The small sample size limited the statistical power of the analyses, but these decreases, although not statistically significant, are compatible with a protective effect. We did not observe statistically‐significant genotype‐dependent differences in plasma homocysteine, although women with the QQ genotype did have lower homocysteine; in children, the mean homocysteine level was higher in the QQ group. This inconsistency could be explained by the fact that age is a strong determinant of homocysteine in children and the QQ group was on average older than the other genotype groups. Our study suggests that the Q allele of the R239Q mutation may decrease risk of the condition. This warrants further investigation of its relationship with the development of NTD. © 2003 Wiley‐Liss, Inc.
Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: A new type of phacomatosis pigmentovascularis?
Authors: Dippel E. , Utikal J. , Feller G. , Fackel N. , Klemke C.D. , Happle R. , Goerdt S. 
Published: May 2003

AbstractHere, we report on a 64‐year‐old‐woman with nevi flammei affecting two contralateral quadrants, venous insufficiency of the right leg, and asymmetry of the arms, in association with a linear nevus depigmentosus. This combination of vascular and pigmentary abnormalities may represent a novel type of phacomatosis pigmentovascularis caused by non‐allelic twin‐spotting. © 2003 Wiley‐Liss, Inc.
Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background
Authors: Howell Neil , Herrnstadt Corinna , Shults Cliff , Mackey David A. 
Published: May 2003

AbstractThe penetrance in Leber's hereditary optic neuropathy (LHON) pedigrees is determined primarily by a mutation in the mitochondrial genome (mtDNA), but secondary factors are also necessary for manifestation of the disorder. It has been proposed that mtDNA polymorphisms affect penetrance in LHON pedigrees. In particular, it has been postulated that one or more polymorphisms associated with European haplogroup J mtDNAs substantially increase the penetrance of the primary LHON mutation at nucleotide 14484. We report here a haplogroup H matrilineal pedigree (VIC14) in which the single affected member carries the 14484 LHON mutation, but who manifested a milder and atypical optic nerve disorder. In addition, during a population screen, we identified an individual who carried the 14484 mutation but who had normal vision. Finally, the 14484 mutation is under‐represented among haplogroup H mtDNAs that carry a LHON mutation. These results, in conjunction with other studies that are reviewed, indicate that 14484 LHON mutations have a low penetrance when they arise in a haplogroup H mtDNA background. © 2003 Wiley‐Liss, Inc.
Synthesis of the novel ionic liquid [N‐pentylpyridinium]+ [closo‐CB11H12]− and its usage as a reaction medium in catalytic dehalogenation of aromatic halides
Authors: Zhu Yinghuai , Ching Chibun , Carpenter Keith , Xu Rong , Selvaratnam Selvasothi , Hosmane Narayan S. , Maguire John A. 
Published: May 2003

AbstractThe novel, low‐melting‐point (19 °C) salt [N‐pentylpyridinium]+ [closo‐CB11H12]− (2) was synthesized in 93% yield and characterized by elemental analysis, IR spectroscopy, and 1H, 13C, and 11B NMR spectroscopy. The salt was used as a solvent in several dehalogenation reactions of mono‐ and poly‐chlorides and ‐bromides, catalyzed by the palladium complexes PdCl2(PPh3)2, PdCl2(dppe), and PdCl2(dppf). Complete debromination of C6Br6, 1,2,4,5‐tetrabromobenzene, C60Br8, and C60Br24 was accomplished quite rapidly, whereas dechlorination of 1,2,4‐trichlorobenzene proceeded more slowly, but with excellent products selectivity. Copyright © 2003 John Wiley & Sons, Ltd.
Synthesis and structure of an amidoimido titanium cage complex [(Me2N)6Ti4(µ‐NPh)5]
Authors: Fan Maomin , Duesler Eileen N. , Paine Robert T. 
Published: May 2003

AbstractThe combination of PhNH2 and (Me2N)4Ti in toluene at 23 °C leads to the formation of a red–orange crystalline compound that displays unexpectedly complex 1H and 13C NMR spectra. Subsequent single crystal X‐ray diffraction analysis reveals that the compound is not an anticipated mononuclear transamination product (Me2N)3Ti[N(H)Ph], but instead it is a bicyclic cage compound with a (Ti4N5) core with bridging phenylimido groups and terminal dimethylamino groups. Copyright © 2003 John Wiley & Sons, Ltd.
Substitution chemistry of sterically demanding boryl ligands
Authors: Coombs Deborah L. , Aldridge Simon , Jones Cameron 
Published: May 2003

AbstractThe synthetic and reaction chemistry of the asymmetric aryl(bromo)boryl complexes (η5‐C5H5)Fe(CO)2B(Ar)Br [Ar = 2,4,6‐Me3C6H2, Mes (3); 2,6‐(2,4,6‐iPr3C6H2)C6H3, 2,6‐Trip2C6H3 (4)] are reported. In particular, the scope for substitution at boron by main‐group nucleophiles is probed. The synthesis and characterization of (η5‐C5H5)Fe(CO)2B(Mes)ERn [ERn = OtBu, (5); ERn = SPh (6)] confirm that substitution at boron can be accomplished with retention of the FeB bond. Copyright © 2003 John Wiley & Sons, Ltd.
Chemical applications of topology and group theory: 37. Pentalene as a ligand in transition metal sandwich complexes
Authors: King R. B. 
Published: May 2003

AbstractThe η8‐C8H62− pentalene ligands in the recently discovered sandwich compounds (η8‐C8H6)2M (M = Ti, Zr) can be derived either by transannular ‘pinching’ of the cyclooctatetraene dianion, C8H82−, or by edge‐sharing fusion of two cyclopentadienyl ligands C5H5−. This paper depicts the relationship between the molecular orbitals in C8H62−, C8H82−, and 2C5H5−. In addition, this paper shows that the d orbital of the central metal atom is of suitable symmetry for δ bonding in the D2h complexes (η8‐C8H6)2M (M = Ti, Zr) unlike in the D8h complexes (η8‐C8H8)2M derived from cyclooctatetraene. This can account for the fact that the cyclooctatetraene sandwich compounds of stoichiometry (C8H8)2M have unsymmetrical (η8‐C8H8)(η4‐C8H8)M structures in the case of the d‐block metals titanium and zirconium in contrast to perhapto structures (η8‐C8H8)2An in the case of the actinides (An = Th, Pa, U, Np, Pu) where metal f orbitals are available for metal–ring bonding. Copyright © 2003 John Wiley & Sons, Ltd.
Synthesis and crystal structure of silver and argentate complexes of mixed halocarborane anions, (C5H5N)2Ag(1‐HCB11Br5I6)(C5H5N) and [{(CH3CN)4Ag3}{Ag(CB11I5Br6)2}]n
Authors: Tsang Chi‐Wing , Yang Qingchuan , Mak Thomas C. W. , Xie Zuowei 
Published: May 2003

AbstractThe first argentate salt of carborane anion, [{(CH3CN)4Ag3}{Ag(CB11I5Br6)2}]n, was prepared from K2[CB11I5Br6] and AgNO3 followed by recrystallization from acetonitrile. Single‐crystal X‐ray analyses indicate that the CB11I5Br62− dianion has a significantly different coordination motif from that of the CB11Br5I6− monoanion. This result suggests that the polarity of the CB11 cage can be changed after deprotonation of the cage CH proton. Copyright © 2003 John Wiley & Sons, Ltd.
Preparation and characterization of tricobalt methylidyne clusters: X‐ray crystal structures of [Co3(CO)9(µ3‐CR)] (R = CH2CH3, CH2C(O)NH2, CH2C(O)CH3) and [Co3(CO)7(µ‐P,P‐PPh2CH2PPh2) (µ3‐CCH2C6H4NH2)]
Authors: Hong Fung‐E , Huang Yi‐Luen , Chang Yu‐Chang , Chu Kang‐Ming , Tsai Yu‐Tain 
Published: May 2003

AbstractA small quantity of the tricobalt methylidyne cluster [Co3(CO)9(µ3‐CCH2CH3)] (2) was obtained, along with the major product, [{[Co2(CO)6(µ‐HCC)]CH2NH}2CO] (1), from the reaction of HCCCH2NH2 with Co2(CO)8 in tetrahydrofuran at 45 °C for 5 h. The crystal structure of 2 showed that the amino group was unexpectedly detached from the propargylamine. The reactions of two related amines, HCCC6H4NH2 and HCCC(O)NH2, with Co2(CO)8 gave two tricobalt methylidyne clusters, [Co3(CO)9(µ3‐CCH2C6H4NH2)] (5) and [Co3(CO)9(µ3‐CCH2C(O)NH2)] (7), respectively. Further reaction of 5 with bis(diphenylphosphino)methane (DPPM) resulted in the formation of the DPPM‐bridged tricobalt methylidyne cluster [Co3(CO)7(µ‐P,P‐PPh2CH2PPh2)(µ3‐CCH2C6H4NH2)] (6). Similar procedures were followed for the reaction of HCCC(O)CH3 with Co2(CO)8; two compounds, [Co3(CO)9(µ3‐CCH2C(O)CH3)] (8) and [Co2(CO)6(µ2‐η2‐HCCC(O)CH3)] (9), were obtained. All these compounds were characterized by spectroscopic means; the crystal structures of 2, 5, 6, and 7 were also determined. Copyright © 2003 John Wiley & Sons, Ltd.
Coordination of the nido‐carboranyldiphosphine ligand to ruthenium(II): the first example of the tricoordinating capacity of the 7,8‐(PPh2)2‐7,8‐C2B9H10 moiety
Authors: Núñez Rosario , Viñas Clara , Teixidor Francesc , Abad Ma Mar 
Published: May 2003

AbstractReaction of [RuH(AcO)(PPh3)3] and [NMe4][7,8‐(PPh2)2‐7,8‐C2B9H10] in methanol yields [RuH(7,8‐(PPh2)2‐7,8‐C2B9H10)(PPh3)2] (1). The reaction of [RuCl2(PPh3)3] and [NMe4][7,8‐(PPh2)2‐7,8‐C2B9H10] in a 1 : 1 or 1 : 2 ratio in methanol yields [RuX(7,8‐(PPh2)2‐7,8‐C2B9H10)(PPh3)2] (X = Cl, H) (2). NMR spectroscopic analyses of 1 and 2 indicate that the centers have an octahedral geometry and the carborane acts as a tricoordinating ligand to ruthenium(II) by means of PRu, B(11)H→Ru and B(2)H→Ru agostic bonds. A chloride or hydride and two PPh3 ligands complete the coordination sphere of the metal. The formation of two BH→Ru agostic bonds rather than a second PRu bond appears to be due to steric factors. Reaction of [NMe4][7,8‐(PPh2)2‐7,8‐C2B9H10] with [RuCl2(PMePh2)4] in ratios of 1 : 1 and 2 : 1 in methanol yields complexes [Ru(7,8‐(PPh2)2‐7,8‐C2B9H11)2] (3) and [RuH(7,8‐(PPh2)2‐7,8‐C2B9H11)2] (4) respectively, which incorporate two nido‐carboranylphosphine ligands. Copyright © 2003 John Wiley & Sons, Ltd.
Synthesis and crystal structure of an assembly of three ortho‐carborane cages linked via para‐phenylene units: effect of aryl orientation on cage CC bond lengths in C‐aryl‐ortho‐carboranes
Authors: Alekseyeva Elena S. , Fox Mark A. , Howard Judith A. K. , Hugh MacBride J. A. , Wade Kenneth 
Published: May 2003

AbstractThe synthesis and crystal and molecular structure are described of (C2B10H11)C6H4(C2B10H10)C6H4(C2B10H11) (4), an acyclic assembly of three ortho‐carborane units connected through their carbon atoms by two para‐phenylene units. For this compound, and published structures of other aryl‐ortho‐carboranes, correlations are noted between the orientations of aryl substituents and cage carbon–carbon distances (C1C2). Ab initio RHF/6‐31G* and MP2/6‐31G* studies on 1‐phenyl‐ortho‐carborane, PhC2B10H11, and other model systems have been used to explore the variations in their energies, C1C2 bond lengths, and C2C1Caryl bond angles with the orientation of their aryl groups, variations believed to reflect weak interactions between the aryl substituents' π systems and the carborane cages. The synthesis of a pentafluorophenyl derivative of 4, (C2B10H11)C6H4(C2B10H10)C6H4(C2B10H10)C6F5, is also described. Copyright © 2003 John Wiley & Sons, Ltd.
Stability of a trilinear–trilinear approximation for the Stokes equations
Authors: Nafa Kamel , Touafek Nouressadat 
Published: May 2003

AbstractThe choice of mixed finite element approximations for fluid flow problems is a compromise between accuracy and computational efficiency. Although a number of finite elements are found in the literature only few low‐order approximations are stable. This is particularly true for three‐dimensional flow problems. These elements are attractive because of their simplicity and efficiency, but can suffer though poor rate of convergence. In this paper the stability of a continuous trilinear–trilinear approximation is being analysed for general geometries. Using the macroelement technique, we prove the stability of the approximation. As a result, optimal rates of convergence are obtained for both the velocity and pressure approximations. Copyright © 2003 John Wiley & Sons, Ltd.
Findings from the International Adult Literacy Survey on the incidence and correlates of learning disabilities in New Zealand: Is something rotten in the state of New Zealand?
Authors: Chapman James W. , Tunmer William E. , Allen Raewyn 
Published: May 2003

AbstractNew Zealand data from the International Adult Literacy Survey were analysed to examine the incidence and correlates of self‐reported specific reading learning disability (SRLD). The results showed that 7.7% of New Zealand adults reported having had a learning disability. The ratio of males to females with SRLD was 3:2. Between 40% and 50% of New Zealand adults performed below the minimum level of proficiency required for meeting the complex demands of everyday life in knowledge‐based societies. For adults with SRLD, around 80% performed below the minimum level, and the literacy proficiency of adults with SRLD in younger age bands appears to have declined since the early 1960s. Almost 100% of adults with SRLD in the 16–20 years age range performed below the minimum level for document and quantitative literacy and 92% for prose literacy. Compared to non‐SRLD adults, those with SRLD were found to leave school earlier, engage more often in manual occupations, are more frequently unemployed, and rely on more state assistance to bring their income levels closer to the levels enjoyed by non‐SRLD adults. The results are discussed in terms of SRLD not being officially recognised or provided for in New Zealand, the lack of appropriate remedial provisions for children who experience difficulties with reading, and the effects of a strong whole language orientated approach to literacy instruction in schools that has been in place since 1963. Copyright © 2003 John Wiley & Sons, Ltd.
The International Adult Literacy Survey in Britain: Impact on policy and practice
Authors: Fawcett Angela J. 
Published: May 2003

AbstractThere is increasing concern for the skills of the workforce in the UK and elsewhere, but despite this concern until recently there has been little information available which objectively measures basic skills in adults. In this paper, evidence derived from the prose scale of the International Adult Literacy Survey (IALS, 1996) is outlined, with emphasis on the performance of adults at the lowest levels, 1 and 2 in the United Kingdom. A new analysis based on the 183 adults who self‐reported learning disabilities demonstrates that over 50% of this group perform at level 1 on the prose scale. Over 60% report that these disabilities persist into adult life, although this number falls to 50% in the youngest age group, reflecting changes in recognition of learning disabilities within the education system. The paper concludes with a case study of the redefinition of basic skill levels in Britain based on the IALS levels. The impact of the IALS findings on policy and practice, and in particular through the recommendations of the Moser report, are discussed. Copyright © 2002 John Wiley & Sons, Ltd.
Large‐scale characterization of genes specific to the larval nervous system in the ascidian Ciona intestinalis
Authors: Mochizuki Yasuaki , Satou Yutaka , Satoh Nori 
Published: May 2003

AbstractSummary: The central and peripheral nervous systems (CNS and PNS) of the ascidian tadpole larva are comparatively simple, consisting of only about 350 cells. However, studies of the expression of neural patterning genes have demonstrated overall similarity between the ascidian CNS and the vertebrate CNS, suggesting that the ascidian CNS is sufficiently complex to be relevant to those of vertebrates. Recent progress in the Ciona intestinalis genome project and cDNA project together with considerable EST information has made Ciona an ideal model for investigating molecular mechanisms underlying the formation and function of the chordate nervous system. Here, we characterized 56 genes specific to the nervous system by determining their full‐length cDNA sequences and confirming their spatial expression patterns. These genes included those that function in the nervous systems of other animals, especially those involved in photoreceptor‐mediated signaling and neurotransmitter release. Thus, the nervous system‐specific genes in Ciona larvae will provide not only probes for determining their function but also clues for exploring the complex network of nervous system‐specific genes. genesis 36:62–71, 2003. © 2003 Wiley‐Liss, Inc.
Changes in NOS protein expression and activity in the rat hippocampus, entorhinal and postrhinal cortices after unilateral electrolytic perirhinal cortex lesions
Authors: Liu Ping , Zheng Yiwen , Smith Paul F. , Bilkey David K. 
Published: May 2003

AbstractThe integrity of the perirhinal cortex is critical for certain types of learning and memory. One important issue relating to the function of this region is its interaction with other brain areas that play a role in memory processing. This study investigates the time course of changes in activity and protein expression of nitric oxide synthase (NOS), which transforms L‐arginine into nitric oxide (NO) and citrulline, in the hippocampus and the entorhinal and postrhinal cortices after unilateral electrolytic lesions of the perirhinal cortex. Electrolytic lesions of the perirhinal cortex resulted in long lasting changes in NOS activity and protein expression in the entorhinal and postrhinal cortices (≤2 weeks post‐lesion). In contrast, there was a small and transient decrease in nNOS expression (with no change in NOS activity) in the dorsal portion of the hippocampus. iNOS was not expressed in any region examined at any time point. These findings provide the first evidence that electrolytic lesions of the perirhinal cortex can result in long‐term neurochemical changes in its anatomically related structures. Given that NO has been implicated in neuroplasticity processes, the interpretation of memory impairments induced by electrolytic lesions of the perirhinal cortex (and possibly, therefore, other brain regions) need to be considered with regard to these findings. Hippocampus 2003;13:561–571. © 2003 Wiley‐Liss, Inc.
Rapid method for culturing embryonic neuron–glial cell cocultures
Authors: Svenningsen Åsa Fex , Shan Wei‐Song , Colman David R. , Pedraza Liliana 
Published: May 2003

AbstractA streamlined, simple technique for primary cell culture from E17 rat tissue is presented. In an attempt to standardize culturing methods for all neuronal cell types in the embryo, we evaluated a commercial medium without serum and used similar times for trypsinization and tested different surfaces for plating. In 1 day, using one method and a single medium, it is possible to produce robust E17 cultures of dorsal root ganglia (DRG), cerebellum, and enteric plexi. Allowing the endogenous glial cells to repopulate the cultures saves time compared with existing techniques, in which glial cells are added to cultures first treated with antimitotic agents. It also ensures that all the cells present in vivo will be present in the culture. Myelination commences after approximately 2 weeks in culture for dissociated DRG and 3–4 weeks in cerebellar cultures. In enteric cultures, glial wrapping of the enteric neurons is seen after 3 weeks (2 weeks in ascorbic acid), suggesting that basal lamina production is important even for glial ensheathment in the enteric nervous system. No overgrowth of fibroblasts or other nonneuronal cells was noted in any cultures, and myelination of the peripheral nervous system and central nervous system cultures was very robust. © 2003 Wiley‐Liss, Inc.