bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome
Authors: Cano A. , Rouzier C. , Monnot S. , Chabrol B. , Conrath J. , Lecomte P. , Delobel B. , Boileau P. , Valero R. , Procaccio V. , Paquis‐Flucklinger V. ,   French Group of Wolfram Syndrome, Vialettes B. 
Published: June 2007

AbstractMutations in the WFS1 gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the WFS1 gene, few data are available concerning the relationships between clinical and molecular aspects of the disease. Here, we describe 12 patients from 11 families with WS. We report on eight novel (A214fsX285, L293fsX303, P346L, I427S, V503fsX517, R558C, S605fsX711, P838L) and seven previously reported mutations. We also looked for genotype–phenotype correlation both in patients included in this study and 19 additional WS patients that were previously reported. Subsequently, we performed a systematic review and meta‐analysis of five published clinical and molecular studies of WFS1 for genotype–phenotype correlation, combined with our current French patient group for a total of 96 patients. The presence of two inactivating mutations was shown to predispose to an earlier age of onset of both DM and optic atrophy. Moreover, the clinical expression of WS was more complete and occurred earlier in patients harboring no missense mutation. © 2007 Wiley‐Liss, Inc.
Molecular genetics study of deafness in Brazil: 8‐year experience
Authors: de Oliveira Camila Andréa , Alexandrino Fabiana , Christiani Thalita Vitachi , Steiner Carlos Eduardo , Cunha José Luiz Rosemberis , Guerra Andréa Trevas Maciel , Sartorato Edi Lúcia 
Published: June 2007

AbstractHereditary hearing loss is a complex disorder that involves a large number of genes. In developed countries, 1 in 1,000 children is born with deafness severe enough to require special education services, and about 60% of the cases of isolated deafness have a genetic origin. Although more than 100 genes for hearing loss are known currently, only a few are routinely tested in the clinical practice. In this study, we present our findings from the molecular diagnostic screening of the GJB2 and GJB3 genes, del(GJB6‐D13S1830) and del(GJB6‐D13S1854) deletions in the GJB6 gene, Q829X mutation in the otoferlin gene (OTOF) and, the A1555G and A7445G mutations in the mitochondrial genome over an 8‐year period. Mutations analysis in the previously mentioned genes and mutations was performed on 645 unrelated Brazilian patients with hearing loss who fell into two different testing groups. Different mutations in the GJB2 gene were responsible for most of cases studied, but deletions in the GJB6 gene as well as mitochondrial mutations were also found. While most cases of hearing loss in this country are due to environmental factors, the genetic etiology of deafness will increasingly be determined as more genetic tests become available. © 2007 Wiley‐Liss, Inc.
A novel splice site mutation in EYA4 causes DFNA10 hearing loss
Authors: Hildebrand Michael S. , Coman David , Yang Tao , Gardner R.J. McKinlay , Rose Elizabeth , Smith Richard J.H. , Bahlo Melanie , Dahl Hans‐Henrik M. 
Published: June 2007

AbstractNonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the ‘Eyes absent 4’ (EYA4) protein were identified. We report on the clinical and genetic analyses of an Australian family with nonsyndromic SNHL. Screening of the EYA4 gene showed the novel polypyrimidine tract variation ca. 1282‐12T > A that introduces a new 3′ splice acceptor site. This is the first report of a point mutation in EYA4 that is hypothesized to lead to aberrant pre‐mRNA splicing and human disease. The DFNA10 family described is only the fourth to be identified. One individual presented with apparently the same phenotype as other affected members of the family. However, genotyping illustrated that he did not share the DFNA10 disease haplotype. Detailed clinical investigation showed differences in the onset and severity of his hearing loss and thus he is presumed to represent a phenocopy, perhaps resulting from long‐term exposure to loud noise. © 2007 Wiley‐Liss, Inc.
Innovative social behavior in chimpanzees (Pan troglodytes)
Authors: Casanova C. , Mondragon‐Ceballos R. , Lee P.C. 
Published: June 2007

AbstractWe present evidence of agonistic buffering in captive chimpanzees, recorded from 1993 until 2005, mainly from ad libitum sampling in over 2000 hr of observation. A total of 33 agonistic buffering episodes were analyzed for context and effects of this complex social behavior. Agonistic buffering was directed at the whole chimpanzee colony as they supported an individual who initially received aggression from the alpha male, independently of the victim's age, sex or social rank. Chimpanzee agonistic buffering behavior is compared with that in other nonhuman primate species, and we describe some particularities of chimpanzee agonistic buffering: the status of the buffers used—socially important offspring such as those from the alpha female—and the social rank of the adult male responsible for the buffering episode—alpha male. Possible functions for this behavior in chimpanzees are suggested as appeasement of group members in a particularly crowded captive setting, and/or as a “forced reconciliation” mechanism. Chimpanzees exhibit behavioral flexibility by adapting themselves to new social and physical situations and use novel behavior to achieve social benefits. Am. J. Primatol. 70:54–61, 2008. © 2007 Wiley‐Liss, Inc.
Limb length and locomotor biomechanics in the genus Homo: An experimental study
Authors: Gruss Laura Tobias 
Published: June 2007

AbstractThe striking variation in limb proportions within the genus Homo during the Pleistocene has important implications for understanding biomechanics in the later evolution of human bipedalism, because longer limbs and limb segments may increase bending moments about bones and joints. This research tested the hypothesis that long lower limbs and tibiae bring about increases in A‐P bending forces on the lower limb during the stance phase of human walking. High‐speed 3‐D video data, force plates, and motion analysis software were used to analyze the walking gait of 27 modern human subjects. Limb length, as well as absolute and relative tibia length, were tested for associations with a number of kinetic and kinematic variables. Results show that individuals with longer limbs do incur greater bending moments along the lower limb during the first half of stance phase. During the second half of stance, individuals moderate bending moments through a complex of compensatory mechanisms, including keeping the knee in a more extended position. Neither absolute nor relative tibia length had any effect on the kinetic or kinematic variables tested. If these patterns apply to fossil Homo, groups with relatively long limbs (e.g. H. ergaster or early H. sapiens) may have experienced elevated bending forces along the lower limb during walking compared to those with relatively shorter limbs (e.g. the Neandertals). These increased forces could have led to greater reinforcement of joints and diaphyses. These results must be considered when formulating explanations for variation in limb morphology among Pleistocene hominins. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Ecogeographic size variation in small‐bodied subfossil primates from Ankilitelo, Southwestern Madagascar
Authors: Muldoon Kathleen M. , Simons Elwyn L. 
Published: June 2007

AbstractVariation in body size is well documented for both extant and extinct Malagasy primates, and appears to be correlated with geographic patterns of resource seasonality. Less attention has been paid to extant lemurs in subfossil collections, although it has been suggested that subfossil forms of extant species are characterized by greater size than their modern counterpart. This trend of phyletic size change has been related to climate change, habitat fragmentation, or human hunting. However, space‐ and time‐averaging in the subfossil samples of previous studies may have obscured more general ecogeographic patterns underlying these size differences. Our objective is to examine size variation in subfossil still‐extant primates within a regional comparative context to determine if subfossil and living forms conform to similar ecogeographic patterns. We report on the subfossil still‐extant primate assemblage from Ankilitelo, southwestern Madagascar (∼500 yr BP) to test this hypothesis. The Ankilitelo primates were compared with museum specimens of known locality. Extant taxa were assigned to one of five distinct ecogeographic regions, including spiny thicket, dry deciduous forest, succulent woodland, lowland and subhumid rainforest. Comparisons of tooth size in extant lemurs reveal significant geographical patterns of variation within genera. In general, the primates from Ankilitelo are indeed larger than their modern counterpart. However, these differences fit an ecoregional model of size variation, whereby Ankilitelo species are comparable in size to living forms inhabiting ecoregions present near the cave today. This suggests that Malagasy primates have been subjected to similar patterns of resource seasonality for at least 500 years. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Diskotische Flüssigkristalle: Von der maßgeschneiderten Synthese zur Kunststoffelektronik
Authors: Laschat Sabine , Baro Angelika , Steinke Nelli , Giesselmann Frank , Hägele Constanze , Scalia Giusy , Judele Roxana , Kapatsina Elisabeth , Sauer Sven , Schreivogel Alina , Tosoni Martin 
Published: June 2007

AbstractDie meisten Menschen verbinden mit dem Begriff Flüssigkristalle sofort die Displays von Laptop‐Computern, Mobiltelefonen, Digitalkameras und anderen elektronischen Geräten. Im Unterschied zu ihren stäbchenförmigen (calamitischen) Verwandten, die erstmals 1907 von Vorländer beschrieben wurden, bieten aber die 1977 von Chandrasekhar entdeckten scheibenförmigen (diskotischen) Flüssigkristalle andere vielversprechende Verwendungsmöglichkeiten. Ihre einzigartige Anordnung in columnaren Mesophasen macht sie zu idealen Kandidaten für molekulare Drähte in vielen optischen und elektronischen Geräten, beispielsweise in Photokopierern, Laserdruckern, Solarzellen, organischen Leuchtdioden und Feldeffekttransistoren oder zur holographischen Datenspeicherung. Einer Übersicht über die verschiedenen Mesophasentypen und Charakterisierungsmethoden columnarer Flüssigkristalle folgen ausgewählte Beispiele aus den Hauptklassen columnarer Mesogene unter besonderer Berücksichtigung effizienter Syntheseverfahren, mesomorpher Eigenschaften und der für Anwendungen relevanten physikalischen Eigenschaften der Flüssigkristalle. Abschließend werden Anwendungsbeispiele und Perspektiven für einen Einsatz in den Materialwissenschaften und der molekularen Elektronik vorgestellt.
Discotic Liquid Crystals: From Tailor‐Made Synthesis to Plastic Electronics
Authors: Laschat Sabine , Baro Angelika , Steinke Nelli , Giesselmann Frank , Hägele Constanze , Scalia Giusy , Judele Roxana , Kapatsina Elisabeth , Sauer Sven , Schreivogel Alina , Tosoni Martin 
Published: June 2007

AbstractMost associate liquid crystals with their everyday use in laptop computers, mobile phones, digital cameras, and other electronic devices. However, in contrast to their rodlike (calamitic) counterparts, first described in 1907 by Vorländer, disklike (discotic, columnar) liquid crystals, which were discovered in 1977 by Chandrasekhar et al., offer further applications as a result of their orientation in the columnar mesophase, making them ideal candidates for molecular wires in various optical and electronic devices such as photocopiers, laser printers, photovoltaic cells, light‐emitting diodes, field‐effect transistors, and holographic data storage. Beginning with an overview of the various mesophases and characterization methods, this Review will focus on the major classes of columnar mesogens rather than presenting a library of columnar liquid crystals. Emphasis will be given to efficient synthetic procedures, and relevant mesomorphic and physical properties. Finally, some applications and perspectives in materials science and molecular electronics will be discussed.
Synthesis and spectroscopic characterization of dimethyl/di(n‐butyl)tin(IV)bis(O,O′‐ditolyl dithiophosphate) complexes. Crystal structures of Me2Sn[S2P(OC6H4Me‐o)2]2 and n‐Bu2Sn[S2P(OC6H4Me‐o)2]2
Authors: Drake John E. , Gurnani Chitra , Hursthouse Michael B. , Light Mark E. , Nirwan Manisha , Ratnani Raju 
Published: June 2007

AbstractOrganotin(IV) complexes of the type, R2Sn[S2P(OR′)2]2 (where R = Me, n‐Bu and R′ = o‐, m‐, p‐C6H4Me) have been obtained by the reaction of Me2SnCl2 or n‐Bu2SnCl2 with ammonium salts of the corresponding O,O′‐ditolyl dithiophosphates on stirring in benzene and have been characterized by elemental analysis and IR, 1H, 13C, 31P and 119Sn NMR spectroscopy. Trends in data are discussed. The crystal structures of Me2Sn[S2P(OC6H4Me‐o)2]2 and n‐Bu2Sn[S2P(OC6H4Me‐o)2]2 are reported. The environment around the tin atom in both molecules may be described as having skew‐trapezoid bipyramidal geometry. Copyright © 2007 John Wiley & Sons, Ltd.
The development of a ‘safety‐catch’ arylgermane for biaryl synthesis by palladium‐catalysed germyl‐stille cross‐coupling
Authors: Spivey Alan C. , Gripton Christopher J. G. , Hannah Joseph P. , Tseng Chih‐Chung , de Fraine Paul , Parr Nigel J. , Scicinski Jan J. 
Published: June 2007

AbstractThe Pd(0) catalysed cross‐coupling of arylgermanes with aryl bromides is shown to require at least two labile heteroatom ligands on the Ge centre to allow efficient nucleophilic activation by fluoride. Dichloroarylgermanes 7a and 7b are shown to cross‐couple to a series of aryl bromides with moderate efficiency using activation by KF in DMF. Bis(2‐naphthylmethyl)arylgermane 18b is identified as a ‘safety‐catch’ precursor to this type of cross‐coupling substrate. The 2‐naphthylmethyl substituents can be removed via photolytic oxidation in the presence of Cu(BF4)2 and the resulting species, although not characterized, participates in cross‐coupling using activation by TBAF in DMF. Copyright © 2007 John Wiley & Sons, Ltd.
20‐hydroxyecdysone prevents oxidative stress damage in adultPyrrhocoris apterus
Authors: Krishnan Natraj , Večeřa Josef , Kodrík Dalibor , Sehnal František 
Published: June 2007

AbstractInjections of 38 pmol paraquat (1,1′‐dimethyl‐4,4′‐bypyridilium) into adultPyrrhocoris apterus(average body weight 29.6 mg in males and 36.9 mg in females) caused a significant elevation of lipid peroxidation and protein carbonylation and a decline of membrane fluidity in the microsomal brain fraction. Another manifestation of oxidative stress was a depletion of the reduced glutathione pool and reduction of the γ‐glutamyl transpeptidase activity in the brain extracts. The damaging action of paraquat on the brain was counteracted by simultaneous injection of 1 pmol 20‐hydroxyecdysone (20E). 20E restrained lipid peroxidation and the formation of protein carbonyls, ameliorated changes in microsomal membrane fluidity, enhanced the level of reduced glutathione, and upregulated the activity of γ‐glutamyl transpeptidase. At the organismic level, 20E curtailed three detrimental effects caused by paraquat injection: the disappearance of a blood protein, the suppression of fecundity and egg hatchability, and the shortening of adult life span. The data showed that 20E provided a systemic antioxidant protection but the significance of endogenous ecdysteroids in the management of oxidative stress remains to be shown. Arch. Insect Biochem. Physiol. 65:114–124, 2007. © 2007 Wiley‐Liss, Inc.
Tissue‐specific regulation of juvenile hormone esterase gene expression by 20‐hydroxyecdysone and juvenile hormone in Bombyx mori
Authors: Kamimura Manabu , Takahashi Michiyoshi , Kikuchi Kyoko , Reza A.M.S. , Kiuchi Makoto 
Published: June 2007

AbstractJuvenile hormone esterase (JHE) is the primary juvenile hormone (JH) metabolic enzyme in insects and plays important roles in the regulation of molt and metamorphosis. We investigated its mRNA expression profiles and hormonal control in Bombyx mori larvae. JHE mRNA was expressed at the end of the 4th and 5th (last) larval instars in the midgut and in all the three (anterior, middle, posterior) parts of the silk gland. In the fat body, JHE expression peaked twice in the 5th instar, at wandering and before pupation, while it gradually decreased through the 4th instar. When 20‐hydroxyecdysone (20E) was injected into mid‐5th instar larvae, JHE mRNA expression was induced in the anterior silk gland but suppressed in the fat body. Topical application of a juvenile hormone analog fenoxycarb to early‐5th instar larvae induced JHE expression in both tissues. In the anterior silk gland, JHE expression was accelerated and strengthened by 20E plus fenoxycarb treatments compared with 20E or fenoxycarb single treatment, indicating positive interaction of 20E and JH. JHE mRNA is thus expressed in tissue‐specific manners under the control of ecdysteroids and JH. Arch. Insect Biochem. Physiol. 65:143–151, 2007. © 2007 Wiley‐Liss, Inc.
Synthesis and Antidiabetic Activity of 3,6,7‐Trisubstituted‐2‐(1H‐imidazol‐2‐ylsulfanyl)quinoxalines and Quinoxalin‐2‐yl isothioureas
Authors: Bahekar Rajesh H. , Jain Mukul R. , Gupta Arun A. , Goel Ashish , Jadav Pradip A. , Patel Dipam N. , Prajapati Vijay M. , Patel Pankaj R. 
Published: June 2007

AbstractTwo series of 3,6,7‐trisubstituted‐2‐(1H‐imidazol‐2‐ylsulfanyl)‐quinoxalines 2a‐l and 2‐(quinoxalin‐2‐yl)‐isothioureas 3a‐l were prepared. All the test compounds 2a‐l and 3a‐l were screened in vitro, in a RIN5F cell‐based assay for glucose‐dependent insulinotropic activity. A significant concentration and glucose‐dependent insulin secretion effect was seen with compounds 2a‐l and the insulinotropic activity of compound 2l was found to be identical to that of the standard compound (6,7‐dichloro‐2‐trifluromethyl‐3‐(5‐methyl‐1,3,4‐thiadiazo‐2‐ylsulfanyl)‐quinoxaline (1)).
Frequency and structure of long distance scholarly collaborations in a physics community
Authors: Lorigo Lori , Pellacini Fabio 
Published: June 2007

AbstractThe authors present results from a real‐world study depicting remote collaboration trends of a community of more than 87,000 scientists over 30 years. They utilize publication records of more than 200,000 scholarly journal articles, together with affiliations of the authors to infer distance collaborations. The longevity of their study is of interest because it covers several years before and after the birth of the Internet and computer‐supported collaborative work (CSCW) technologies. Thus, they provide one lens through which the impact of computer‐assisted collaborative work technologies can be viewed. Their results show that there has been a steady and constant growth in the frequency of both interinstitute and cross‐country collaborations in a particular physics domain, regardless of the introduction of these technologies. This suggests that we are witnessing an evolution, rather than a revolution, with respect to long‐distance collaborative behavior. An interdisciplinary approach, combining numerical statistics, graph visualizations, and social network measurements, facilitates their remarks on the changes in the size and structure of these collaborations over this period of history.
Oxidative Reactions of the MoIV Dialkyl Complex [{(3‐CF3C6H4NCH2CH2)2NMe}Mo(CH2SiMe3)2]
Authors: Hock Adam S. , Schrock Richard R. 
Published: June 2007

AbstractThe structure of [(CF3N2NMe)Mo(CH2SiMe3)2] (in which (CF3N2NMe)2− is [(3‐CF3C6H4NCH2CH2)2NMe]2−) is approximately trigonal bipyramidal with one axial and one equatorial alkyl ligand. Heating of solutions of [(CF3N2NMe)Mo(CH2SiMe3)2] in [D6]benzene in the presence of five equivalents of 2‐butyne led to diamagnetic [(CF3N2NMe)Mo(CHSiMe3)(η2‐MeCCMe)], whose structure is approximately square pyramidal with the alkyne occupying the axial site. Addition of one equivalent of cyclohexene sulfide to [(CF3N2NMe)Mo(CH2SiMe3)2] at room temperature produced the diamagnetic, dimeric molybdenum(IV) sulfido complex, [{(CF3N2NMe)MoS}2]. This complex is composed of two approximately trigonal bipyramidal centers, each containing one axial and one equatorial sulfur atom. Oxidation of [(CF3N2NMe)Mo(CH2SiMe3)2] with hexachloroethane resulted in formation of tetramethylsilane, HCl, and the sparingly soluble, red alkylidyne complex, [{(CF3N2NMe)Mo(CSiMe3)Cl}2]. This complex forms a dimer through bridging chlorides. The oxidation reactions of [(CF3N2NMe)Mo(CH2SiMe3)2] with 2‐butyne, cyclohexene sulfide, or C2Cl6 are all proposed to proceed by α‐hydrogen abstraction in the MoVI species to yield (initially) the MoCHSiMe3 species and tetramethylsilane.
Experimental and Theoretical Investigations into the Paratropic Ring Current of a Porphyrin Sheet
Authors: Nakamura Yasuyuki , Aratani Naoki , Osuka Atsuhiro 
Published: June 2007

AbstractAnomalous induced magnetic effects were observed in a directly fused square‐planar porphyrin sheet 1, in that the protons above the center of the tetraporphyrin core were characteristically shifted downfield in the 1H NMR spectrum. These observations suggest a rare paratropic ring‐current effect around the planar cyclooctatetraene (COT) core of 1. To examine the spatial distribution of the induced magnetic effect, face‐to‐face dimeric complexes of porphyrin sheet 1 with bipyridyl‐type guest molecules (G1–G3) were prepared, which provided complexation‐induced shifts (CISs) of the guest molecules as a neat experimental guide to the distance dependence of the induced magnetic effects in 1. Nucleus‐independent chemical shift (NICS) values of 1 were calculated by varying the distance of the probe from the plane of 1. Whereas a simple bell‐type profile was estimated for the complex (1)2–(G1)4, the distance profiles of the CIS became increasingly flat for (1)2–(G2)4 and (1)2–(G3)4. Finally, we investigated the paratropic ring‐current effect just above the COT core of the complex 1–(G4)2, which agrees well with the theoretically estimated distance‐dependent induced magnetic effect. Consequently, both experimental and theoretical studies on the complexes of porphyrin sheets with guest molecules revealed for the first time a unique distance dependence of the paratropic ring current.
Pharmacokinetics of methylprednisolone after intravenous and intramuscular administration in rats
Authors: Hazra Anasuya , Pyszczynski Nancy , DuBois Debra C. , Almon Richard R. , Jusko William J. 
Published: June 2007

AbstractMethylprednisolone (MPL) pharmacokinetics was examined in adrenalectomized (ADX) and normal rats to assess the feasibility of intramuscular (i.m.) dosing for use in pharmacodynamic studies. Several study phases were pursued. Parallel group studies were performed in normal and ADX rats given 50 mg/kg MPL (i.v. or i.m.) and blood samples were collected up to 6 h. Data from studies where normal rats were dosed with 50 mg/kg MPL i.m. and killed over either 6 or 96 h were combined to determine muscle site and plasma MPL concentrations. Lastly, ADX rats were dosed with 50 mg/kg MPL i.m. and killed over 18 h to assess hepatic tyrosine aminotransferase (TAT) dynamics. MPL exhibited bi‐exponential kinetics after i.v. dosing with a terminal slope of 2.1 h−1. The i.m. drug was absorbed slowly with two first‐order absorption rate constants, 1.26 and 0.219 h−1 indicating flip‐flop kinetics with overall 50% bioavailability. The kinetics of MPL at the injection site exhibited slow, dual absorption rates. Although i.m. MPL showed lower bioavailability compared with other corticosteroids in rats, TAT dynamics revealed similar i.m. and i.v. response profiles. The more convenient intramuscular dosing can replace the i.v. route without causing marked differences in pharmacodynamics. Copyright © 2007 John Wiley & Sons, Ltd.