bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disclosing the mechanisms of origin of de novo short‐arm duplications of chromosome 9
Authors: Krepischi‐Santos Ana Cristina V. , Vianna‐Morgante Angela M. 
Published: January 2003

AbstractThree de novo short‐arm duplications of chromosome 9 were investigated by fluorescence in situ hybridization (FISH) and genotyping of microsatellite loci with the aim of disclosing their mechanisms of origin. Two of these duplications were identified as direct and one as an inverted duplication, and they comprised nearly the entire 9p. In the two dirdup(9p), the distal breakpoints were mapped to subtelomeric sequences, whereas the proximal break boundaries were defined by pericentromeric sequences. The maternal origin of both duplications was demonstrated, and the presence of three different alleles in distal loci indicated that these rearrangements must have occurred prezygotically. In the invdup(9p), the proximal breakpoint was mapped at the alphoid sequences, which were partially duplicated on the tip of the rearranged 9p; subtelomeric and telomeric sequences were not detected, allowing the distal breakpoint to be mapped proximally to subtelomeric sequences. Genotyping of microsatellite loci allowed us to conclude that this invdup(9p) chromosome had a paternal origin. Homozygosity throughout the duplicated segment pointed to its probable postzygotic formation. Chromatid rearrangements appeared to have originated these 9p duplications, involving pericentromeric and subtelomeric sequences. These rearrangements might have been the result of recombination events between homologous repeats in these segments. © 2003 Wiley‐Liss, Inc.
De novo interstitial tandem duplication of chromosome 20p12.1p13
Authors: de Ravel T.J.L. , Vermeesch J.R. , Fryns J.‐P. 
Published: January 2003

AbstractWe report the first case of an individual with a de novo interstitial tandem duplication of the short arm of chromosome 20p12.1p13, discuss the clinical features, and propose the possible underlying mechanism of formation. © 2002 Wiley‐Liss, Inc.
Chromosomal fragility in patients with triple A syndrome
Authors: Reshmi‐Skarja Shalini , Huebner Angela , Handschug Katrin , Finegold David N. , Clark Adrian J.L. , Gollin Susanne M. 
Published: January 2003

AbstractTriple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been identified in triple A syndrome patients; however, the function of this gene is still obscure. We used classical and high‐resolution chromosome analyses along with chromosome painting and DNA sequencing to study patients with triple A syndrome. We observed abnormalities in the heterochromatic region of chromosome 9 that included chromatid breaks, chromosome breaks, whole chromosome arm loss, and marker chromosomes, which occurred at unusually high frequencies in affected patients and heterozygotes. Our study raises the possibility of an association between chromosomal fragility in band 9q12 and triple A syndrome. Further investigation is necessary to understand the biologic basis of this finding in the context of triple A syndrome. © 2002 Wiley‐Liss, Inc.
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure
Authors: Hundscheid R.D.L. , Smits A.P.T. , Thomas C.M.G. , Kiemeney L.A.L.M. , Braat D.D.M. 
Published: January 2003

AbstractCarriers of fragile X premutations were previously considered phenotypically normal but are now known to be at risk for premature ovarian failure (POF). This prompted us to investigate whether premutation carriers (PC) have an increased risk for other diseases. We approached 306 women out of 84 fra(X) families of whom 264 (86.3%) participated in this study. A medical history was taken of these women. Whenever possible, the anamnestic data were verified with medical records. We first evaluated the occurrence of diseases that are commonly associated with menopause in PC and compared this to that in women with either a normal FMR‐1 gene or a full mutation. We found no statistically significant differences in the occurrence of diseases known to be associated with menopause, such as cardiovascular diseases and osteoporosis. However, lower bone mineral density was observed only in PC. Subsequently, we compared the occurrence of other medical problems between the two groups by estimating relative risks. PC did not demonstrate other diseases more commonly compared to non‐PC from the same families. These findings are important for the counseling of PC. Carriership of the premutation may affect the ovaries, but does not substantially increase the risk for additional medical problems. Once a PC does experience POF, she is at risk for early estrogen deprivation, which may lead to a premature decrease in bone density, when not treated. © 2002 Wiley‐Liss, Inc.
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy
Authors: Rudnik‐Schöneborn Sabine , Sztriha László , Aithala Gururaj R. , Houge Gunnar , Lægreid Liv M. , Seeger Jürgen , Huppke Michael , Wirth Brunhilde , Zerres Klaus 
Published: January 2003

AbstractPontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCH‐1. This phenotype is characterized by severe muscle weakness and hypotonia starting prenatally or at birth with a life span not exceeding a few months in most cases. Milder disease courses with later onset and longer survival are normally not diagnosed as PCH‐1. We describe the clinical and neuroradiological findings in nine patients out of six siblingships with evidence of cerebellar defects and early onset spinal muscular atrophy (SMA), representing a broad spectrum of clinical variability. In all patients, the diagnosis of SMA (Werdnig‐Hoffmann disease) was made on the basis of electrophysiological data and muscle biopsy; however, genetic testing failed to confirm the diagnosis of infantile SMA with a gene defect on chromosome 5q and resulted in clinical reevaluation. Age at onset was after a normal period in the first months of life in three siblingships and pre‐ and postnatally in the other three families. Life span was 2–4 years in patients with later onset, and age at death occurred after birth or within months in the more severe group. Two siblingships showed discordant ages at death despite similar treatment. In contrast to the previous definition of PCH‐1, our observations suggest the existence of milder phenotypes with pontocerebellar hypoplasia or olivopontocerebellar atrophy in combination with anterior horn cell loss. A pontine involvement is not necessarily seen by neuroimaging methods. The genetic basis of PCH‐1 remains to be determined. The gene locus for infantile SMA on chromosome 5q could be excluded by linkage studies. Parental consanguinity and affected siblings make autosomal recessive inheritance most likely. © 2002 Wiley‐Liss, Inc.
Autopsy on a case of Roberts syndrome reported in 1672: The earliest description?
Authors: Bates A.W. 
Published: January 2003

AbstractIn 1672, François Bouchard reported the autopsy of a male infant discovered on public exhibition at Leiden. The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, hydrocephalus, bilateral cleft lip, micrognathia, and cryptorchidism are consistent with a diagnosis of Roberts syndrome. Bouchard did not find internal abnormalities other than hydrocephalus, which he attempted to demonstrate by showing decreased specific gravity of the brain. Death was due to umbilical vein hemorrhage following birth trauma. © 2002 Wiley‐Liss, Inc.
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
Authors: Bartsch Oliver , Nemecková Michaela , Kocárek Eduard , Wagner Annett , Puchmajerová Alena , Poppe Maja , Ounap Katrin , Goetz Petr 
Published: January 2003

AbstractDiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q11 deletion (90% of cases) is well known, but the outcome with the less frequent deletion types has not been well documented. Using cytogenetic and fluorescence in situ hybridization (FISH) analysis we studied a series of 295 patients with suspected DG/VCFS. We identified 58 subjects with a 22q11 deletion, and none with a 10p deletion. Fifty‐two subjects had the common deletion, five had the proximal deletion, and one had an atypical proximal deletion due to a 1;22 translocation. We report clinical data of four subjects with the proximal 22q11 microdeletion, and of one patient with the atypical proximal deletion. The anomalies observed with the proximal 22q11 microdeletion fell within the DG/VCFS spectrum. Two females, 6 and 25 years old, had normal mental development. Normal development has been reported with the common 22q11 deletion, but only in a minority of cases. This study may indicate a better intellectual and/or behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a chance finding. © 2002 Wiley‐Liss, Inc.
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)
Authors: Amiel Jeanne , Pelet Anna , Trang Ha , de Pontual Loïc , Simonneau Michel , Munnich Arnold , Gaultier Claude , Lyonnet Stanislas 
Published: January 2003

AbstractCongenital central hypoventilation syndrome (CCHS) is a rare condition for which segregation analyses have suggested genetic factors. The respiratory phenotype of Rnx knock‐out mice together with the Rnx expression at the brainstem level prompted us to consider the RNX gene as a candidate for CCHS in human. The screening of the RNX gene in a series of 25 patients with CCHS did not reveal any significant nucleotide variation. We therefore conclude that RNX is not a major gene for CCHS in human. © 2002 Wiley‐Liss, Inc.
Crystallographic report: Bis(pyrrolinedithiocarbamato)mercury(II)
Authors: Lai Chian Sing , Tiekink Edward R. T. 
Published: January 2003

AbstractThe mononuclear structure of Hg(S2CN(CH2)4)2 has crystallographically imposed twofold symmetry and features chelating dithiocarbamate ligands that form asymmetric HgS bond distances leading to a heavily distorted tetrahedral geometry. Copyright © 2003 John Wiley & Sons, Ltd.
Crystallographic report: Chloro(N,N‐diethyldithiocarbamato)(4,7‐dimethyl‐1, 10‐phenanthroline)mercury(II) hemi‐chloroform solvate
Authors: Lai Chian Sing , Tiekink Edward R. T. 
Published: January 2003

AbstractThe X‐ray crystal structure of Hg(S2CNEt2)(4,7‐Me2‐phen)Cl features an essentially four‐coordinate geometry for mercury within a ClN2S donor set that defines a distorted tetrahedral arrangement. Copyright © 2003 John Wiley & Sons, Ltd.
Organotin antifouling paints and their alternatives
Authors: Omae Iwao 
Published: January 2003

AbstractTributyltin and triphenyltin compounds have excellent biocidal properties and almost all vessels in the world have used these paints since early in the 1960s. Contrary to expectation, as shown by experimental data at the beginning of organotin chemistry, triorganotins are exceptionally stable in the sediment or in dark places in the deep sea. Since triorganotins do not decompose rapidly in seawater, many incidences of deformities in some shellfish have been linked to their presence, even when present at extremely low concentrations.Alternative tin‐free antifoulants containing other biocides, such as copper compounds and organic compounds, have been developed and used since the late 1980s. Some nations have already banned the use of organotin antifouling compounds for small vessels, and in 2001 the International Maritime Organization decided to ban completely the use of the organotin compounds from the year 2003. Therefore, it is necessary to find economically and environmentally better biocidal substances as soon as possible. Moreover, the development of antifoulants containing environmentally safe natural products, fouling release coatings, electroconductive coatings, etc. have long been anticipated from the new point of conservation of the world marine environment. Copyright © 2003 John Wiley & Sons, Ltd.
Laser photolysis of trimethoxysilane: chemical vapour deposition of nanostructured silicone powders with SiH and SiOCH3 bonds
Authors: Tomovská Radmila , Bastl Zdenĕk , Bohác̆ek Jaroslav , Pola Josef 
Published: January 2003

AbstractGas‐phase photolysis of trimethoxysilane, achieved for the first time by focused ArF laser radiation at 193 nm, yields C1,2 hydrocarbons, methanol and carbon monoxide along with ultrafine nanostructured silicone powder possessing SiO3 and SiO4 configurations and SiH and SiOCH3 bonds. The photolytic process, resulting in efficient removal of the methyl groups, is explained as a multitude of steps involving cleavages of all the available bonds. Copyright © 2003 John Wiley & Sons, Ltd.
Radioprotective activity of metalladithioacetals derived from N‐substituted naphthylethylimidazoline
Authors: Célariès Benoît , Amourette Christine , Lion Claude , Rima Ghassoub 
Published: January 2003

AbstractA number of organosilicon and organogermanium derivatives of N‐substituted 2‐[1‐(1‐naphthyl)ethyl]‐2‐imidazoline have been reported and the toxicity of these compounds has been determined in mice. In this paper we report the evaluation of the radioprotective activity of new sila‐ and germa‐dithioacetals derived from N‐substituted 2‐[1‐(1‐naphthyl)ethyl]‐2‐imidazoline. Copyright © 2003 John Wiley & Sons, Ltd.
Preparation of Si–C–N–Fe magnetic ceramics from iron‐containing polysilazane
Authors: Li Yongming , Zheng Zhimin , Reng Changyu , Zhang Zhijie , Gao Wei , Yang Shiyan , Xie Zemin 
Published: January 2003

AbstractA new type of hyperbranched polysilazane containing iron (PSZI) compound was synthesized by the polycondensation of silazane lithium salts with FeCl3, and the structure of the PSZIs was investigated by IR, NMR and elemental analyses. The PSZIs were pyrolyzed under nitrogen, argon or NH3, and magnetic ceramics could be obtained. The ceramic yields of the PSZIs were higher than those of their corresponding silazanes, and the PSZIs or silazanes with reactive groups containing SiH, CHCH2 or higher branched structures had higher yields. The magnetism of the ceramics could be controlled by a pyrolytic atmosphere and temperature: the saturation magnetization Ms ranged from 20 to 100 emu g−1 and coercivity Hc ranged from 463 to 50 Oe. The transformation of the magnetic loop of the PSZIs pyrolyzed at different temperatures under NH3 was quite different from those under nitrogen. It was shown by X‐ray diffraction measurements that the magnetic crystalline form could exist as Fe4N, Fe(0) or Fe3N depending on temperature under NH3, but under a nitrogen atmosphere Fe(0) was nearly the only magnetic crystalline form from 600 to 1100 °C. By dipping or spin‐coating of the PSZI solution, then through pyrolysis under nitrogen, argon or NH3, thin uniform magnetic ceramic films could be fabricated on the substrates. Copyright © 2003 John Wiley & Sons, Ltd.
Kinetics and mechanism of the reaction of allyl chloride with trichlorosilane catalyzed by carbon‐supported platinum
Authors: Marciniec Bogdan , Maciejewski Hieronim , Duczmal Wojciech , Fiedorow Ryszard , Kityński Dariusz 
Published: January 2003

AbstractThe kinetics of substrate conversions in the commercially important hydrosilylation of allyl chloride with trichlorosilane, catalyzed by active carbon‐supported platinum, as well as the yields of the main product (3‐chloropropyltrichlorosilane) and by‐products (tetrachlorosilane, propyltrichlorosilane) have been studied. On the basis of the measurements performed, the pseudo first‐order rate constants (kobs, k1 and k2 from the model of competitive reactions) and activation energy (Ea = 11 kcal mol−1 (46.2 kJ mol−1)) were determined. The data obtained point to a non‐linear dependence of kobs on the catalyst amount. From the kinetic relationships, the kinetic equation was deduced. All the results of kinetic, IR spectroscopic and thermogravimetric measurements, as well as the derived kinetic equation, have confirmed the general model of consecutive–competitive reaction involving the formation of a surface complex C1 which can decompose in two directions according to the Chalk–Harrod mechanism. Copyright © 2003 John Wiley & Sons, Ltd.
Effects of tributyltin(IV) chloride on the gametes and fertilization of Ascidia malaca (Ascidiacea: Tunicata)
Authors: Villa L. , Agati P. D' , Mansueto C. , Pellerito C. , Scopelliti M. , Fiore T. , Nagy L. , Pellerito L. 
Published: January 2003

AbstractAscidia malaca gametes before fertilization incubated in 10−5 or 10−7 M solutions of tributyltin(IV) chloride, TBTCl, for 3 h appear highly damaged under transmission electron microscopy observation. Also, the fertilization process is affected by the compound: the damaged spermatozoa are present in the vitelline coat and the egg does not cleave. An increase of microbodies, structurally similar to peroxisomes, have been detected in the egg peripheral cytoplasm, probably in relation to their role in alleviating damage to some cellular components. The results have shown that the reproduction of ascidians under unfavourable environmental conditions is prevented. Copyright © 2003 John Wiley & Sons, Ltd.
Mechanical and barrier properties of edible starch–protein‐based films
Authors: Jagannath J. H. , Nanjappa C. , Das Gupta D. K. , Bawa A. S. 
Published: January 2003

AbstractThe present investigation dealt with the mechanical properties, water‐vapor transmission behavior at different relative humidity conditions, and DSC thermograms of edible films formulated using various proteins (casein, gelatin, albumin) in combination with starch and nonthermal as well as intense thermal blending. Nonthermal blended film showed in the DSC thermogram a double Tg, indicating poor miscibility of the components and, hence, a poor film‐forming property. However, the DSC thermogram of all the films based on intense thermal blending showed a single Tg, indicating the complete molecular miscibility of the components. Casein‐based film showed a lower water‐vapor transmission rate, water gain at different relative humidity conditions, and higher tensile strength compared to its counterparts containing gelatin and albumin. Since the casein–starch blend gave better film properties, a blend of hydrophobic carnauba wax and casein was prepared to compare the properties of hydrophilic–hydrophilic and hydrophobic–hydrophilic blends. Both these blends compared well with respect to the water‐vapor transmission rate. Wax‐based film showed multiphased behavior in the DSC thermograms and the percent elongation was lower as compared to the casein–starch blend. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 64–71, 2003
Unique expression patterns of the retinoblastoma (Rb) gene in intact and lens regeneration‐undergoing newt eyes
Authors: Thitoff Angela R. , Call Mindy K. , Del Rio‐Tsonis Katia , Tsonis Panagiotis A. 
Published: January 2003

AbstractBased on the role of retinoblastoma (Rb) in lens development and in the cell cycle reentry of muscle cells during limb regeneration, we have analyzed expression or Rb patterns in intact and lens regeneration‐undergoing newt eyes. We find that in intact newt eye Rb is expressed in the retina as a gradient with higher levels in the photoreceptor layer and virtually no expression in the ganglion layer. In addition, a second gradient was detected within the photoreceptor layer with expression diminishing at the dorsal and ventral regions. In the intact lens, Rb is expressed in the lens epithelium and in the differentiating lens fibers at the bow region. During lens regeneration, Rb is expressed very strongly in the differentiating lens fibers, but not in the lens epithelium. Using an antibody specific to the hyperphosphorylated form of Rb, we detected the inactive protein only in the pigment epithelial cells of the iris. These distinct patterns might be related to the regenerative potential of the lens in the newt. Anat Rec Part A 271A:185–188, 2003. © 2003 Wiley‐Liss, Inc.
Slug expression during organogenesis in mice
Authors: Oram Kathleen F. , Carver Ethan A. , Gridley Thomas 
Published: January 2003

AbstractThe vertebrate Slug gene encodes a zinc finger‐containing transcriptional repressor. Here we report expression of the mouse Slug gene during organogenesis and late fetal development using histochemical detection of β‐galactosidase expressed from a targeted SluglacZ knock‐in allele. The Slug gene is highly expressed in the mesenchymal or stromal component of numerous organs. It is also highly expressed in craniofacial mesenchyme, in bone of both mesodermal and neural crest origin, and in the outflow tract and the endocardial cushions of the heart. Anat Rec Part A 271A:189–191, 2003. © 2003 Wiley‐Liss, Inc.
Electron microscopy of functional ribosome complexes
Authors: Frank Joachim 
Published: January 2003

AbstractCryoelectron microscopy has made a number of significant contributions to our understanding of the translation process. The method of single‐particle reconstruction is particularly well suited for the study of the dynamics of ribosome–ligand interactions. This review follows the events of the functional cycle and discusses the findings in the context provided by the recently published x‐ray structures. © 2003 Wiley Periodicals, Inc. Biopolymers 68: 223–233, 2003
Assembly of the 30S ribosomal subunit
Authors: Culver Gloria M. 
Published: January 2003

AbstractRibosomes are large macromolecular complexes responsible for cellular protein synthesis. The smallest known cytoplasmic ribosome is found in prokaryotic cells; these ribosomes are about 2.5 MDa and contain more than 4000 nucleotides of RNA and greater than 50 proteins. These components are distributed into two asymmetric subunits. Recent advances in structural studies of ribosomes and ribosomal subunits have revealed intimate details of the interactions within fully assembled particles. In contrast, many details of how these massive ribonucleoprotein complexes assemble remain elusive. The goal of this review is to discuss some crucial aspects of 30S ribosomal subunit assembly. © 2003 Wiley Periodicals, Inc. Biopolymers 68: 234–249, 2003
Stepwise induced fit in the pico‐ to nanosecond time scale governs the complexation of the even‐skipped transcriptional repressor homeodomain to DNA
Authors: Flader Wolfgang , Wellenzohn Bernd , Winger Rudolf H. , Hallbrucker Andreas , Mayer Erwin , Liedl Klaus R. 
Published: January 2003

AbstractInduced fit effects in the complex of a DNA decamer with two even‐skipped transcriptional repressor homeodomain molecules were investigated by means of molecular dynamics simulations. Dynamics of these effects are found to be in the time scale from pico‐ to nanoseconds. First steps are made by the fast‐moving DNA backbone phosphates, which upon binding change their BI/BII substate distribution. Further rearrangements in the DNA double helix induced upon complexation, like bending of the helix axis, changes of the minor groove width, and of different helical parameters, are slower and occur within a few nanoseconds. The flexibility of the DNA, especially of its backbone, seems thereby to play an important role for specific DNA ligand recognition. © 2002 Wiley Periodicals, Inc. Biopolymers 68: 139–149, 2003