bluuebunny/crossref_metadata_2025_split huggingface dataset:
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X‐inactivation pattern
Authors: Badens Catherine , Martini Nathalie , Courrier Sébastien , DesPortes Vincent , Touraine Renaud , Levy Nicolas , Edery Patrick 
Published: September 2006

AbstractMutations in the X‐encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4‐year‐old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX. We show that her pattern of X‐inactivation is totally skewed and that her active X chromosome which harbors the ATRX mutation, was maternally inherited. To our knowledge, this is the first report of ATRX syndrome in a female patient. Since she was born after in vitro fertilization (IVF), we propose a possible link between assisted reproduction technologies (ART) and the unexpected X chromosome methylation pattern that we observed. © 2006 Wiley‐Liss, Inc.
Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?
Authors: Oostra Roelof‐Jan , Maas Mario 
Published: September 2006

AbstractA hitherto unknown combination of multiple bifid ribs, as seen in Gorlin syndrome (GS), interpedicular fusion and apparent malsegmentation of vertebral laminae at various upper thoracic levels was found in the skeleton of a newborn infant. This specific combination of anomalies is also seen in the mouse open brain (opb) mutant. Since the genes involved in GS (Patched2) and opb (rab23) both play an essential role in the hedgehog signaling pathway, it is likely that the cause of the anomalies presented here is to be sought in impaired functioning of this pathway. © 2006 Wiley‐Liss, Inc.
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
Authors: Bisgaard Anne‐Marie , Kirchhoff Maria , Tümer Zeynep , Jepsen Birgit , Brøndum‐Nielsen Karen , Cohen Monika , Hamborg‐Petersen Bente , Bryndorf Thue , Tommerup Niels , Skovby Flemming 
Published: September 2006

AbstractThe detection of chromosomal abnormalities in patients with mental retardation (MR) and dysmorphic features increases with improvements of molecular cytogenetic methods. We report on six patients referred for detailed characterization of chromosomal abnormalities (four translocations, one inversion, one deletion) detected by conventional cytogenetics, in whom metaphase CGH revealed imbalances not involved in the initially detected rearrangements. The detected abnormalities were validated by real‐time PCR. Parents were investigated by CGH in four cases. The genomic screening revealed interstitial deletions of 2q33.2‐q34, 3p21, 4q12‐q13.1, 6q25, 13q22.2‐q31.1, and 14q12. The estimated minimum sizes of the deletions ranged from 2.65 to 9.27 Mb. The CGH assay did not reveal imbalances that colocalized with the breakpoints of the inversion or the translocations. The deletion of 6q included ESR1, in which polymorphisms are associated with variation of adult height. FOXG1B, known to be involved in cortical development, was located in the 14q deletion. The results illustrate that whole‐genome molecular cytogenetic analysis of phenotypically affected patients with abnormal conventional karyotypes may detect inapparent molecular cytogenetic abnormalities in patients with microscopic chromosomal abnormalities and that these data provide additional information of clinical importance. © 2006 Wiley‐Liss, Inc.
The Supramolecular Chemistry of Organic–Inorganic Hybrid Materials
Authors: Descalzo Ana B. , Martínez‐Máñez Ramón , Sancenón Félix , Hoffmann Katrin , Rurack Knut 
Published: September 2006

AbstractThe combination of nanomaterials as solid supports and supramolecular concepts has led to the development of hybrid materials with improved functionalities. These “hetero‐supramolecular” ideas provide a means of bridging the gap between molecular chemistry, materials sciences, and nanotechnology. In recent years, relevant examples have been reported on functional aspects, such as enhanced recognition and sensing by using molecules on preorganized surfaces, the reversible building of nanometer‐sized networks and 3D architectures, as well as biomimetic and gated chemistry in hybrid nanomaterials for the development of advanced functional protocols in three‐dimensional frameworks. This approach allows the fine‐tuning of the properties of nanomaterials and offers new perspectives for the application of supramolecular concepts.
Exposure to 5‐Bromo‐2′‐deoxyuridine induces oxidative stress and activator protein‐1 DNA binding activity in the embryo
Authors: Sahambi Sukhdeep Kaur , Hales Barbara F. 
Published: September 2006

AbstractBACKGROUND:During organogenesis the embryo is highly sensitive to oxidative stress. We hypothesize that oxidative stress and activation of a redox‐sensitive transcription factor, activator protein‐1 (AP‐1), are early indicators of embryonic stress in response to a teratogenic insult. 5‐Bromo‐2′‐deoxyuridine (BrdU) was chosen as a model teratogen to test this hypothesis; BrdU is a thymidine analog that is incorporated into replicating DNA.METHODS:Timed pregnant CD1 mice were given vehicle or BrdU (400, 600, 800, or 1000 mg of BrdU/kg of body weight) on gestation day 9 (GD 9). Oxidative stress, assessed as the ratio of glutathione disulfide (GSSG) to reduced glutathione (GSH), and AP‐1 DNA binding activity (c‐Fos‐ and c‐Jun‐dependent DNA binding) were measured in the maternal livers and embryos 0.5, 3, and 6 hr after treatment. External and skeletal malformations were assessed on GD 18. N‐acetylcysteine, a glutathione precursor, was coadministered with BrdU to further explore the relationship between teratogenicity and redox homeostasis.RESULTS:BrdU exposure produced a dose‐dependent increase in skeletal malformations, which included polydactyly, and delayed ossification of the sternebrae and vertebrae. Exposure to teratogenic doses of BrdU depleted GSH concentrations and increased oxidative stress, as assessed by the GSSG:GSH ratio, in both maternal livers and embryos. While c‐Jun DNA binding activity in embryos was not affected, c‐Fos DNA binding activity was elevated significantly 3 hr after BrdU exposure. Coadministration of N‐acetylcysteine decreased the skeletal malformations and AP‐1 DNA binding activity induced by BrdU.CONCLUSIONS:BrdU exposure induced an embryonic stress response manifested as an increase in oxidative stress and AP‐1 DNA binding activity; these data support the hypothesis that disturbances in redox homeostasis mediate the response of the conceptus to a teratogenic insult. Birth Defects Research (Part A), 2006. © 2006 Wiley‐Liss, Inc.
Experimental and Theoretical Investigations of the Sulfite‐Based Polyoxometalate Cluster Redox Series: α‐ and β‐[Mo18O54(SO3)2]4−/5−/6−
Authors: Baffert Carole , Boas John F. , Bond Alan M. , Kögerler Paul , Long De‐Liang , Pilbrow John R. , Cronin Leroy 
Published: September 2006

AbstractThe synthesis, isolation and structural characterization of the sulfite polyoxomolybdate clusters α‐(D3h)(C20H44N)4{α‐[Mo18O54(SO3)2]}⋅CH3CN and β‐(D3d)(C20H44N)4{β‐[Mo18O54(SO3)2]}⋅CH3CN is presented. Voltammetric studies in acetonitrile (0.1 MHx4NClO4, Hx4N=tetra‐n‐hexylammonium) reveal the presence of an extensive series of six one‐electron reduction processes for both isomers. Under conditions of bulk electrolysis, the initial [Mo18O54(SO3)2]4−/5−and [Mo18O54(SO3)2]5−/6−processes produce stable [Mo18O54(SO3)2]5−and [Mo18O54(SO3)2]6−species, respectively, and the same reduced species may be produced by photochemical reduction. Spectroelectrochemical data imply that retention of structural form results upon reduction, so that both α and β isomers are available at each of the 4‐, 5‐, and 6‐redox levels. However, the α isomer is the thermodynamically favored species in both the one‐ and two‐electron‐reduced states, with β→α isomerization being detected in both cases on long time scales (days). EPR spectra also imply that increasing localization of the unpaired electron occurs over the α‐ and β‐[Mo18O54(SO3)2]5−frameworks as the temperature approaches 2 K where the EPR spectra show orthorhombic symmetry with differentgand hyperfine values for the α and β isomers. Theoretical studies support the observation that it is easier to reduce the α cluster than the β form and also provide insight into the driving force for β→α isomerization in the reduced state. Data are compared with that obtained for the well studied α‐[Mo18O54(SO4)2)]4−sulfate cluster.
A New Fluorescent Probe for Zinc(II): An 8‐Hydroxy‐5‐N,N‐dimethylaminosulfonylquinoline‐Pendant 1,4,7,10‐Tetraazacyclododecane
Authors: Aoki Shin , Sakurama Kazusa , Matsuo Nanako , Yamada Yasuyuki , Takasawa Ryoko , Tanuma Sei‐ichi , Shiro Motoo , Takeda Kei , Kimura Eiichi 
Published: September 2006

AbstractA new fluorescent probe for Zn2+, namely, 8‐hydroxy‐5‐N,N‐dimethylaminosulfonylquinolin‐2‐ylmethyl‐pendant cyclen (L8), was designed and synthesized (cyclen=1,4,7,10‐tetraazacyclododecane). By potentiometric pH, 1H NMR, and UV spectroscopic titrations, the deprotonation constants pKa1–pKa6 of L8⋅4 HCl were determined to be <2, <2, <2 (for amino groups of the cyclen and quinoline moieties), 7.19±0.05 (for 8‐OH of the quinoline moiety), 10.10±0.05, and 11.49±0.05, respectively, at 25 °C with I=0.1 (NaNO3). The results of 1H NMR, potentiometric pH, and UV titrations, as well as single‐crystal X‐ray diffraction analysis, showed that L8 and Zn2+ form a 1:1 complex [Zn(H−1L8)], in which the 8‐OH group of the quinoline ring of L8 is deprotonated and coordinates to Zn2+, in aqueous solution at neutral pH. On addition of one equivalent of Zn2+ and Cd2+, the fluorescence emission of L8 (5 μM) at 512 nm in aqueous solution at pH 7.4 [10 mM HEPES with I=0.1 (NaNO3)] and 25 °C increased by factors of 17 and 43, respectively. We found that the cyclen moiety has the unique property of quenching the fluorescence emission of the quinolinol moiety when not complexed with metal cations, but enhancing emission when complexed with Zn2+ or Cd2+. In addition, the Zn2+–L8 complex [Zn(H−1L8)] is much more thermodynamically and kinetically stable (Kd{Zn(H−1L8)}=[Zn2+]free[L8]free/[Zn(H−1L8)]=8 fM at pH 7.4) than the Zn2+ complexes of our previous Zn2+ fluorophores ([Zn(H−1L2)] and [Zn(L3)]). Furthermore, formation of [Zn(H−1L8)] is much faster than those of [Zn(H−1L2)] and [Zn(L3)]. The staining of early‐stage apoptotic cells with L8 is also described.
Diversity‐Oriented Synthesis of Pochonins and Biological Evaluation against a Panel of Kinases
Authors: Moulin Emilie , Barluenga Sofia , Totzke Frank , Winssinger Nicolas 
Published: September 2006

AbstractPochonins A–F were recently characterized as six new members of the naturally occurring family of 14‐membered resorcylic acid lactones. As there are a high number of ATPase and kinase inhibitors among natural resorcylic lactones, a library based on the pochonin scaffold, with five points of diversity, was prepared which includes diversity beyond that of the natural analogues. The library was synthesized by using solid‐supported reagents amenable to automation. Testing the library for its inhibition against a panel of 24 kinases at 10 μM afforded a >14 % hit rate. These results demonstrate the potential of the resorcylides towards the inhibition of therapeutically relevant kinases.
Interaction of Zinc Oxide Clusters with Molecules Related to the Sulfur Vulcanization of Polyolefins (“Rubber”)
Authors: Steudel Ralf , Steudel Yana 
Published: September 2006

AbstractThe vulcanization of rubber by sulfur is a large‐scale industrial process that is only poorly understood, especially the role of zinc oxide, which is added as an activator. We used the highly symmetrical cluster Zn4O4 (Td) as a model species to study the thermodynamics of the initial interaction of various vulcanization‐related molecules with ZnO by DFT methods, mostly at the B3LYP/6‐31+G* level. The interaction energy of Lewis bases with Zn4O4 increases in the following order: CO<S6<C2H4<C3H6<Me2S2<1,4‐C5H8<MeSH<Me2O<Me2S<Me3N≪CH3COO−. The corresponding binding energies range from −57 to −262 kJ mol−1. However, Brønsted acids react with the Zn4O4 cluster with proton transfer from the ligand molecule to one of the oxygen atoms of Zn4O4, and these reactions are all strongly exothermic [binding energies [kJ mol−1] in parentheses: H2O (−183), MeOH (−171), H2S (−245), MeSH (−230), C3H6 (−121), and CH3COOH (−255)]. The important vulcanization accelerator mercaptobenzothiazole (C7H5NS2, MBT) containing several donor sites reacts with the Zn4O4 cluster with proton transfer from the NH group to one of the oxygen atoms of ZnO, and in addition the exocyclic thiono sulfur atom and the nitrogen atom coordinate to one and the same zinc atom, resulting in a binding energy of −247 kJ mol−1. A second isomer of [(MBT)Zn4O4] with a strong OH⋅⋅⋅N hydrogen bond rather than a ZnN bond is only slightly less stable (binding energy −243 kJ mol−1). The NH form of free MBT is 36 kJ mol−1 more stable than the tautomeric SH form, while the sulfurized MBT derivative benzothiazolyl hydrodisulfide C7H5NS3 (BtSSH) is most stable with the connectivity >CSSH.
Total Solid‐Phase Synthesis of the Azathiocoraline Class of Symmetric Bicyclic Peptides
Authors: Bayó‐Puxan Núria , Fernández Ariadna , Tulla‐Puche Judit , Riego Estela , Cuevas Carmen , Álvarez Mercedes , Albericio Fernando 
Published: September 2006

AbstractThiocoraline is a potent antitumor agent isolated from the marine organism Micromonospora sp. This symmetric bicyclic depsipeptide binds the minor groove of DNA. Here we report two solid‐phase strategies for the syntheses of azathiocoraline and its analogues. The thioester linkage was replaced by an amide bond to improve the compound’s pharmacokinetic properties. The first strategy is based on a convergent (4+4) approach, whilst the second is a stepwise synthesis, cyclizations in both approaches occurring on the solid support. These two strategies were designed to overcome problems caused by the presence of consecutive noncommercial N‐methyl amino acids, to avoid epimerization during cyclization and/or fragment condensation, and to form the disulfide bridge under solid‐phase conditions. The heterocyclic moiety was added in the last step of the synthesis to assist the preparation of libraries of new compounds with potential therapeutic applications.
Treatment outcome in young adults and children >10 years of age with acute lymphoblastic leukemia in Sweden
Authors: Hallböök Helene , Gustafsson Göran , Smedmyr Bengt , Söderhäll Stefan , Heyman Mats ,   for the Swedish Adult Acute Lymphocytic Leukemia Group and the Swedish Childhood Leukemia Group
Published: September 2006

AbstractBACKGROUND.Several studies have reported a more favorable outcome for teenagers and young adults with acute lymphoblastic leukemia (ALL) when they were treated in pediatric oncology departments compared with adult hematology departments. However, biased risk grouping and high treatment‐related mortality have hampered some of those comparisons.METHODS.In Sweden during the 1990s, adolescents with ALL were treated in a pediatric oncology unit or in an adult hematologic unit, depending on the initial referral. In the current national, comparative, retrospective study, patients with ALL aged 10 years to 40 years who were treated either according to the Nordic Society of Pediatric Hematology and Oncology (NOPHO) ALL protocol (1992–2000) (NOPHO‐92 protocol) or according to the Swedish Adult ALL Group protocol (1994–2000) (Adult protocol) were included. None of the protocols had age as a high‐risk criterion.RESULTS.In total, 243 patients with B‐precursor and T‐cell ALL were treated according to the protocols. There was a significant difference in the remission rate between the NOPHO‐92 protocol (99%; n = 144 patients) and the Adult protocol (90%; n = 99 patients; P < .01), and the event‐free survival (EFS) was also superior for the NOPHO‐92 protocol compared with the Adult protocol (P < .01). However, EFS was higher for patients aged 15 years to 25 years compared with patients aged 26 years to 40 years within the Adult protocol group (P = .01). The treatment protocol itself was identified as an independent risk factor.CONCLUSIONS.The NOPHO‐92 protocol resulted in a better outcome than the Adult protocol; therefore, adolescents may benefit from the pediatric protocol treatment strategy. Prospective trials are warranted to determine whether young adults would benefit from similar treatment. Cancer 2006. © 2006 American Cancer Society.
Synthesis, Solid‐State Structures, and EPR Spectroscopic Studies on Polycrystalline and Single‐Crystal Samples of α‐Diimine Cobalt(II) Complexes
Authors: Rosa Vítor , Gonzalez Pablo J. , Avilés Teresa , Gomes Pedro T. , Welter Richard , Rizzi Alberto C. , Passeggi Mario C. G. , Brondino Carlos D. 
Published: October 2006

AbstractCobalt compounds of the general formula [CoX2(α‐diimine)], where X = Cl or I and the α‐diimines are 1,4‐diaryl‐2,3‐dimethyl‐1,4‐diaza‐1,3‐butadiene (Ar‐DAB) and bis(aryl)acenaphthenequinonediimine (Ar‐BIAN) were synthesized by the direct reaction of the anhydrous cobalt salts CoCl2or CoI2and the corresponding α‐diimine ligand in dried CH2Cl2. The synthesized compounds are [Co(Ph‐DAB)Cl2] (1a), [Co(o,o′,p‐Me3C6H2‐DAB)Cl2] (1b), and [Co(o,o′‐iPr2C6H3‐DAB)Cl2] (1c) with the ligands Ar‐DAB, and also [Co(o,o′,p‐Me3C6H2‐BIAN)I2] (2′b) with the ligand Ar‐BIAN. The crystal structures of all the compounds were solved by single‐crystal X‐ray diffraction. In all cases the cobalt atom is in a distorted tetrahedron, which is built up of two halide atoms and two nitrogen atoms of the α‐diimine ligand. X‐band EPR measurements of polycrystalline samples performed on compounds1b,1c, and2′bindicate a high‐spin CoIIion (S= 3/2) in an axially distorted environment. Single‐crystal EPR experiments on compounds1band1callowed us to evaluate the orientation of thegtensor in the molecular frame. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)
Incorporation of the Unnatural Organometallic Amino Acid 1′‐Aminoferrocene‐1‐carboxylic Acid (Fca) into Oligopeptides by a Combination of Fmoc and Boc Solid‐Phase Synthetic Methods
Authors: Barišić Lidija , Rapić Vladimir , Metzler‐Nolte Nils 
Published: September 2006

AbstractThe organometallic amino acid 1′‐aminoferrocene‐1‐carboxylic acid (Fca) was incorporated internally into a peptide sequence by solid‐phase methods combining natural Fmoc‐protected amino acids and Boc‐Fca‐OH to give the pentapeptide Boc‐Fca‐Ala‐Gly‐Val‐Leu‐NH2 (2) and the octapeptide Ac‐Val‐Gly‐Ala‐Fca‐Ala‐Gly‐Val‐Leu‐NH2 (3). Compound 3 was found to have a helically ordered structure by NMR and CD spectroscopy, which is stabilized by intramolecular hydrogen bonding in an antiparallel β‐sheet‐like arrangement. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)
Straightforward Light‐Driven Synthesis of Ultrasmall, Water‐Soluble Monolayer‐Protected Platinum Nanoparticles
Authors: Giuffrida Salvatore , Ventimiglia Giorgio , Callari Fiorella L. , Sortino Salvatore 
Published: September 2006

AbstractA facile synthetic methodology to obtain, in one‐step, ultrasmall (ca. 1 nm) and water‐soluble carboxylate‐terminated platinum nanoparticles is reported. It involves visible light as a reaction trigger and platinum acetylacetonate and thioglycolic acid as the only chemical reactants. These nanoparticles are stable for weeks and can be easily transferred into organic solvents such as toluene, chloroform or dichloromethane by using the cationic surfactant tetraoctylammonium bromide as the phase‐transfer agent. To the best of our knowledge, they are among the smallest water‐soluble platinum nanoparticles prepared to date and represent the first example of preparation of thiol‐protected platinum nanoparticles exclusively driven by light.(© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)
An Eight‐Coordinate Mononuclear Double Helical Complex
Authors: Drew Michael G. B. , Parui Debarati , De Senjuti , Naskar Jnan P. , Datta Dipankar 
Published: September 2006

AbstractFrom the reaction of Cd(CH3COO)2·2H2O with the 1:2 condensate (L) of benzil dihydrazone and 2‐acetylpyridine, [CdL(CH3COO)(H2O)]PF6·3H2O (1) is isolated by adding NH4PF6. L reacts with Cd(ClO4)2·xH2O to yield [CdL2](ClO4)2·0.5H2O (2). The yellowish complexes 1 and 2 are characterized by NMR and single‐crystal X‐ray diffraction. 1 is found to be a seven‐coordinate single helical complex having a CdIIN4O3 core and homoleptic 2 an eight‐coordinate double helical complex with a CdIIN8 core.(© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)
Adducts of Cp3Ln with LGa(Me)OH, Syntheses and X‐ray Crystal Structures of LGa(Me)HO→LnCp3 {Ln = Sm, Nd, Yb; L = HC[C(Me)N(2,6‐iPr2C6H3)]2}
Authors: Singh Sanjay , Pal Aritra , Roesky Herbert W. , Herbst‐Irmer Regine 
Published: September 2006

AbstractVarious heterodimetallic (gallium‐lanthanide) compounds have been prepared by the reaction of LGa(Me)OH (2) with Cp3Ln. Thus, the adducts LGa(Me)HO→LnCp3 (Ln = Sm, 3; Nd, 4; Yb, 5) were obtained and characterized by IR spectroscopy and elemental analyses. The single‐crystal X‐ray structures of 3 and 4 are also reported. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)
On the Fate of Vanadate in Human Blood (Eur. J. Inorg. Chem. 18/2006)
Authors: Gorzsás András , Andersson Ingegärd , Pettersson Lage 
Published: September 2006

AbstractThe cover picture shows a symbolic representation of the fate of vanadate in human blood. Since the transition metal vanadium is named after Vanadis, the Nordic goddess of beauty, she is represented by the famous Venus de Milo sculpted in metal. Her cloth is decorated with the functional groups of the ligands that can form a complex (“dress”) with the metal while travelling in the blood vessels, the latter being symbolised by the caverns in the background. The water in the caves represents the aqueous solutions in which speciation studies have been carried out in the group of Professor Lage Pettersson. Further references to these studies are found as cave paintings on the walls: a distribution diagram and a set of 51V NMR spectra. The studies have been carried out in the framework of the COST D21/009 working group. The geographical locations of the research groups within this working group are shown by illuminated dots on the map of Europe in the background. The goal of the studies was to better understand the ability of vanadium to lower blood glucose levels (represented by the sugar cubes washed ashore on the left) and thus its potential as an orally applicable drug against diabetes. A Microreview, covering the results of the above mentioned speciation studies dealing with the fate of vanadate in human blood, is represented by A. Gorzsás, I. Andersson, and L. Pettersson on p. 3559 ff. The digital artwork for this cover was created by András Gorzsás.