bluuebunny/crossref_metadata_2025_split huggingface dataset:
Self‐Assembly of Polyaniline—From Nanotubes to Hollow Microspheres
Authors: Zhang L. , Wan M. 
Published: October 2003

AbstractBy simply changing the molar ratio of the dopant to monomer, the morphology of salicylic acid (SA)‐doped polyaniline (PANI) can be changed from one‐dimensional nanotubes (∼ 109–150 nm in diameter) to three‐dimensional hollow microspheres (∼ 1.5–3.1 μm in diameter) via a self‐assembly process. Freeze–fracture electron microscopy (FFEM) proved that hollow spherical micelles composed of SA/aniline act as templates in the formation of either nanotubes or hollow spheres. FTIR and X‐ray diffraction measurements suggest that the hydrogen bond of the –OH group of SA with the amine group of PANI might be a driving force for self‐assembling hollow microspheres, while the hydrogen bond through hydrogen and oxygen of the adjacent SA doped on the polymer chains results in short‐range order of the counter‐ions along the polymer chain in the nanotubes.
Block Copolymers as a Tool for Nanomaterial Fabrication
Authors: Lazzari M. , López‐Quintela M.A. 
Published: October 2003

AbstractIn this review the latest developments regarding the use of self‐assembled copolymers for the fabrication of nanomaterials will be presented and their real potential evaluated. Most of the strategies reported so far are herewith classified under two main approaches: a) use of block copolymers as nanostructured materials, either “as they are” or through a selective isolation of one or more component blocks, and b) as templates for the synthesis of metallic or semiconducting nanomaterials. The problems of the orientation and large‐scale order of self‐organizing block copolymer mesophases will be also introduced, due to their importance as a route towards further improvements of the nanofabrication means.
Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male
Authors: Erickson Robert P. , Skinner Steve , Jacquet Hélène , Campion Dominique , Buckley Patrick G. , Mantripragada Kiran K. , Dumanski Jan P. 
Published: October 2003

AbstractSeveral years ago, we presented a patient with true hermaphroditism and partial duplication of chromosome 22 and no evidence of SRY (Aleck et al. [1999: Am J Med Genet 85:2–4]). Recently a 46,XX male with velocardiofacial syndrome and a deletion of 22q11.2 and no evidence of Y chromosomal loci in blood DNA was reported (Phelan et al. [2003: Am J Med Genet 116A:77–79]). We have restudied this patient as he enters puberty. Because chromosomal deletions sometimes involve micro rearrangements of nearby material, we have extensively studied this individual's chromosome 22 looking for evidence of any gene duplication. We studied a number of variable number tandem repeat (VNTR) loci along chromosome 22 in the patient and both parents. Normal Mendelian inheritance of the VNTRs was found. We then used quantitative multiplex PCR of short fluorescent fragments (QMPSF) to delineate the 22q11.2 deletion in this patient (Jacquet et al. [2002: Hum Molec Genet 11:2243–2249]) and found a pattern of deletion typical of the velocardiofacial DiGeorge syndrome. Finally, the patient's DNA has been analyzed using a full coverage human chromosome 22 genomic microarray (array comparative genomic hybridization [CGH]) for evidence of rearrangements outside the classical velocardiofacial DiGeorge associated deletion (Buckley et al. [2002: Hum Molec Genet 11:3221–3229]). The array‐CGH profile of this patient confirms the deletion encompassing the typically deleted region associated with the velocardiofacial DiGeorge syndrome and provides no support for additional gene copy number aberrations on 22q. Thus, there is no evidence of any chromosome 22 trisomic material. In this case, the rare events of sex reversal and 22q11.2 deletion may have occurred together by chance. © 2003 Wiley‐Liss, Inc.
Is Jaffe–Campanacci syndrome just a manifestation of neurofibromatosis type 1?
Authors: Colby Randall S. , Saul Robert A. 
Published: October 2003

AbstractThis article describes four patients with non‐ossifying fibromas (NOFs) and multiple café‐au‐lait spots. Two of the patients were diagnosed with NOFs when they presented with a femur fracture. The other two patients were diagnosed with NOFs because of complaints of leg problems. In addition, axillary freckles and Lisch nodules were present in all four patients and multiple cutaneous neurofibromas in two patients. These four patients fulfilled the diagnostic criteria for neurofibromatosis type 1 (NF1) and also have been diagnosed with Jaffe–Campanacci syndrome. We propose that Jaffe–Campanacci syndrome is a manifestation of NF1 and suggest that patients with NF1 should have more rigorous radiographic screening of the long bones during early adolescence or adulthood to determine the presence or absence of NOFs. Appropriate intervention (exercise restriction, bracing, and/or surgery) might decrease the long‐term disability associated with Jaffe–Campanacci syndrome. © 2003 Wiley‐Liss, Inc.
Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease
Authors: Mueller C. , Patel S. , Irons M. , Antshel K. , Salen G. , Tint G.S. , Bay C. 
Published: October 2003

AbstractSmith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7‐dehydrocholesterol Δ7‐reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5‐year‐old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She was born at term following an uncomplicated pregnancy and delivery, and presented at 12 days of age with poor feeding, abdominal distention, and jaundice. Colonic biopsy was consistent with Hirschsprung disease. On physical examination she had mild ptosis, a long philtrum, mild micrognathia, a short, upturned nose, and subtle 2,3 syndactyly. Her 7‐dehydrocholesterol (7‐DHC) level was markedly elevated at 8.7 mg/dl (normal 0.10 ± 0.05), and her cholesterol level was normal at 61 mg/dl (normal for newborn period 50–80 mg/dl). Karyotype analysis was normal, 46,XX. Breast milk feeding was initiated and continued for 18 months. Cholesterol supplementation was implemented at 100 mg/kg/day at 3 months, which resulted in increased cholesterol levels and reduced dehydrocholesterol levels. Neuropsychological testing has shown functioning in the low average range, between the 14th and 18th centiles when compared to peers. This is markedly higher than most children with SLOS. She has no behavioral problems. MRI and MRS testing of the brain revealed no structural abnormalities. This is in contrast to a recently reported case by Prasad et al. [2002: Am J Med Genet 108:64–68] with a mild phenotype, behavioral problems, and abnormal MRI, who is compound heterozygote for both a null and missense mutation. Our case suggests that patients with severe feeding disorders with or without Hirschprung disease and postnatal onset microcephaly may warrant screening for SLOS. © 2003 Wiley‐Liss, Inc.
Genetic syndromes among individuals with mental retardation
Authors: Stevenson Roger E. , Procopio‐Allen Ashley M. , Schroer Richard J. , Collins Julianne S. 
Published: October 2003

AbstractIndividuals with mental retardation more commonly have malformations and other structural anomalies than individuals without mental retardation. In many cases, the associated anomalies comprise recognizable syndromes caused by genetic or environmental insults. To co‐occurrence of structural anomalies with mental retardation thus assists in the diagnostic evaluation, particularly in infants and young children. The coexistence of structural and mental abnormalities also suggests that both originated in the embryonic period of development. © 2003 Wiley‐Liss, Inc.
Toriello–Carey syndrome: Delineation and review
Authors: Toriello Helga V. , Carey John C. , Addor Marie‐Claude , Allen William , Burke Leah , Chun Nicole , Dobyns William , Elias Ellen , Gallagher Renata , Hordijk Roel , Hoyme Gene , Irons Mira , Jewett Tamison , LeMerrer Martine , Lubinsky Mark , Martin Rick , McDonald‐McGinn Donna , Neumann Luitgard , Newman William , Pauli Richard , Seaver Laurie , Tsai Anna , Wargowsky David , Williams Marc , Zackai Elaine 
Published: October 2003

AbstractToriello and Carey [1988: Am J Med Genet 31:17–23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello–Carey syndrome by Lacombe et al. [1992: Am J Med Genet 42:374–376]. Since then, 11 reports describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history. © 2003 Wiley‐Liss, Inc.
X‐linked cubitus valgus with mental retardation and typical face
Authors: Jones Kenneth Lyons , Kosaki Kenjiro , Hall Bryan D. 
Published: October 2003

AbstractIn 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10‐year‐old male and his 30‐year‐old maternal uncle and an unrelated 15‐year‐old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep‐set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X‐linked recessive mode of inheritance for this condition. © 2003 Wiley‐Liss, Inc.
The hedgehog signaling network
Authors: Cohen, M. Michael 
Published: October 2003

AbstractIn the hedgehog signaling network, mutations result in various phenotypes, including, among others, holoprosencephaly, nevoid basal cell carcinoma syndrome, Pallister‐Hall syndrome, Greig cephalopolysyndactyly, Rubinstein‐Taybi syndrome, isolated basal cell carcinoma, and medulloblastoma. Active Hedgehog ligand is double lipid modified with a C‐terminal cholesterol moiety and an N‐terminal palmitate. Transport active Hedgehog from the signaling cell to the responding cell occurs through three mechanisms: 1). formation of multimeric Hedgehog which makes it soluble; 2). function of Dispatched in releasing the lipid‐anchored protein from the signaling cell; and 3). movement across the plasma membrane of the responding cell by Tout‐velu‐dependent synthesis of heparan sulfate proteoglycan. In the responding cell, active Hedgehog binds to its receptor Patched, a 12‐pass transmembrane protein, which frees Smoothened, an adjacent 7‐pass transmembrane protein, for downstream signaling. Patched and Smoothened may shuttle oppositely between the plasma membrane and endocytic vesicles in response to active Hedgehog ligand. In downstream signaling, Cubitus interruptus (Gli proteins in vertebrates), Costal 2, Fused, and Suppressor of Fused form a tetrameric complex. Cubitus interruptus is a bifunctional transcription regulator. In the absence of active Hedgehog ligand, a truncated transcriptional repressor is generated that binds target genes and blocks their transcription. In the presence of active Hedgehog ligand, a full length transcriptional activator binds target genes and upregulates their transcription. Target genes include Wingless (Wnt gene family in vertebrates), Decapentaplegic (Bone Morphogenetic Proteins in vertebrates), and Patched. The upregulation of Patched expression, resulting in Patched protein at the cell membrane, sequesters Hedgehog and limits its spread beyond the cells in which it is produced. Thus, a balance is created by the antagonism of Hedgehog and Patched, whose relative concentrations alternate with respect to each other. Many more factors that are essential for the hedgehog signaling network are also discussed: Megalin, Rab23, Hip, GAS1, PKA, GSK3, CK1, Slimb, SAP18, and CBP. © 2003 Wiley‐Liss, Inc.
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region
Authors: Morris Colleen A. , Mervis Carolyn B. , Hobart Holly H. , Gregg Ronald G. , Bertrand Jacquelyn , Ensing Gregory J. , Sommer Annemarie , Moore Cynthia A. , Hopkin Robert J. , Spallone Patricia A. , Keating Mark T. , Osborne Lucy , Kimberley Kendra W. , Stock A. Dean 
Published: October 2003

AbstractMost individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN. The overlap of the clinical phenotypes of the two conditions (cardiovascular disease and connective tissue abnormalities such as hernias) is due to the effect of haploinsufficiency of ELN. SVAS families often have affected individuals with some WS facial features, most commonly in infancy, suggesting that ELN plays a role in WS facial gestalt as well. To find other genes contributing to the WS phenotype, we studied five families with SVAS who have small deletions in the WS region. None of the families had mental retardation, but affected family members had the Williams Syndrome Cognitive Profile (WSCP). All families shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LIMK1 hemizygosity contributes to impairment in visuospatial constructive cognition. While the deletions from the families nearly spanned the WS region, none had a deletion of FKBP6 or GTF2I, suggesting that the mental retardation seen in WS is associated with deletion of either the centromeric and/or telomeric portions of the region. Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS. © 2003 Wiley‐Liss, Inc.
A new recessive syndrome with VATER‐like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency
Authors: Braddock Stephen R. 
Published: October 2003

AbstractVATER association is a term frequently used to describe children with multiple malformations. However, occasionally these children have malformations that are not typical of VATER defects and may represent unique multiple malformation syndromes with specific prognoses and recurrence risks. Two siblings with a heretofore previously undescribed multiple malformation syndrome are presented whose features include vertebral defects, cardiac abnormalities, pulmonary hypertension, laryngeal webs, blue sclerae, and persistent growth deficiency. Autosomal recessive inheritance is suggested. These cases suggest that other individuals labeled VATER association with multiple other defects should be reviewed more closely to give accurate prognosis and recurrence risk information to families. © 2003 Wiley‐Liss, Inc.
Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male
Authors: Pramparo Tiziano , Gregato Giuliana , De Gregori Manuela , Friso Alessandra , Clementi Maurizio , Ardenghi Patrizia , Rocchi Mariano , Zuffardi Orsetta , Tenconi Romano 
Published: October 2003

AbstractWe report a four generations family with multiple exostoses segregating with a reciprocal translocation t(8;19)(q24.11;q13.13) in 8 members of three generations. FISH investigations detected a breakage of the dosage‐sensitive EXT1 gene. Although three members of the family died perinatally from unknown causes and one carrier had four spontaneous abortions, the translocation was discovered only when the cytogenetic analysis was requested in an affected male because of oligozoospermia. In fact, it is well known that infertile males may be carriers of reciprocal or Robertsonian translocations with a higher frequency than the general population. This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause. © 2003 Wiley‐Liss, Inc.
Moebius sequence and hypogonadotrophic hypogonadism
Authors: Jennings Juliet E. , Costigan Colm , Reardon William 
Published: October 2003

AbstractA distinct form of Moebius sequence is associated with hypogonadotrophic hypogonadism. There have been five such cases to date. We now add a further case with detailed neurologic, endocrine, and autopsy findings and offer a hypothesis drawing parallels with the already established basis of hypogonadotrophic hypogonadism in the X‐linked form of Kallman syndrome. © 2003 Wiley‐Liss, Inc.
A summarization system for Chinese news from multiple sources
Authors: Chen Hsin‐Hsi , Kuo June‐Jei , Huang Sheng‐Jie , Lin Chuan‐Jie , Wung Hung‐Chia 
Published: October 2003

AbstractThis article proposes a summarization system for multiple documents. It employs not only named entities and other signatures to cluster news from different sources, but also employs punctuation marks, linking elements, and topic chains to identify the meaningful units (MUs). Using nouns and verbs to identify the similar MUs, focusing and browsing models are applied to represent the summarization results. To reduce information loss during summarization, informative words in a document are introduced. For the evaluation, a question answering system (QA system) is proposed to substitute the human assessors. In large‐scale experiments containing 140 questions to 17,877 documents, the results show that those models using informative words outperform pure heuristic voting‐only strategy by news reporters. This model can be easily further applied to summarize multilingual news from multiple sources.
Selective Recognition of Configurational Substates of Zinc Cyclam by Carboxylates: Implications for the Design and Mechanism of Action of Anti‐HIV Agents
Authors: Liang Xiangyang , Weishäupl Michael , Parkinson John A. , Parsons Simon , McGregor Pamela A. , Sadler Peter J. 
Published: October 2003

AbstractThe interaction of metal cyclams with carboxylate groups is thought to play an important role in their binding to the CXCR4 chemokine receptor and in their anti‐HIV activity. Here we report the synthesis of acetate, phthalate, perchlorate and chloride complexes of ZnII cyclam (1,4,8,11‐tetraazacyclotetradecane). The X‐ray crystal structures of [Zn(cyclam)(phthalate)]n(CH3OH)2n and [Zn(cyclam)(H2O)2](OAc)2 contain octahedral ZnII centres. Phthalate acts as a bridging ligand in the former complex, binding through monodentate carboxylate groups, and giving rise to infinite chains in the lattice together with extensive hydrogen bonding between carboxylate donor oxygen atoms and amine and methanol acceptor atoms. The uncoordinated acetate groups and the aqua ligand in the acetate complex are also involved in a rich network of hydrogen bonds and this may account for the unusually long ZnO distance (2.27 Å). In both crystalline complexes, the macrocycle adopts the trans‐III (S,S,R,R) configuration. 1D 1H NMR spectra of all four complexes have been fully assigned by a combination of 2D [1H, 1H] COSY and TOCSY, and [1H, 13C] and [1 H, 15N] HSQC NMR data. In aqueous solution, the stable trans‐III configuration found in the solid‐state equilibrates slowly (hours at 298 K) with trans‐I (R,S,R,S) and cis‐V (R,R,R,R) configurations. The trans‐III configuration is predominant in aqueous solution for both the chloride and perchlorate complexes, but for the acetate and phthalate complexes, the cis‐V configuration dominates. Carboxylate groups appear to stabilize the cis‐V configuration in solution through ZnII coordination and hydrogen bonding. Titration of the chloride ZnII–cyclam complex with acetate confirmed that carboxylates strongly induce formation of the cis‐V configuration. This implies that carboxylates can exert a strong influence over configurational selectivity. Cyclam NH hydrogen bonding is prevalent both in the solid state and in solution, and is relevant to the anti‐HIV activity of ZnII and other metal cyclam complexes and to their ability to recognize the CXCR4 transmembrane co‐receptor.
Photoresponsive Supramolecular Systems: Self‐Assembly of Azodibenzoic Acid Linear Tapes and Cyclic Tetramers
Authors: Rakotondradany Felaniaina , Whitehead M. A. , Lebuis Anne‐Marie , Sleiman Hanadi F. 
Published: October 2003

AbstractA new strategy to effect photoinduced control over molecular self‐assembly is reported. This strategy uses the reversible trans–cis photoisomerization of a novel azobenzene system, where the trans‐ and cis‐forms self‐assemble into dramatically different higher‐order structures. The trans‐azobenzene form of this molecule associates into infinite hydrogen‐bonded linear tapes, while the cis‐azobenzene form undergoes hydrogen‐bonded self‐assembly into cyclic tetramers. This results in a second level of association, where the cis‐hydrogen‐bonded supramolecular cycles ultimately form long, rod‐like aggregates through stacking interactions.
Folding versus Self‐Assembling
Authors: Li Alexander D. Q. , Wang Wei , Wang Li‐Qiong 
Published: October 2003

AbstractModel foldable polymers with sequences of rigid hydrophobic chromophores and flexible hydrophilic tetra(ethylene glycol) were synthesized and used as a paradigm for studying molecular‐folding and self‐assembly phenomena. Our results demonstrate that intramolecular association or folding prevails over intermolecular interaction or self‐assembling in the concentration region from 1 μM to 0.1 M. Importantly, folded polymeric nanostructures have absorption and fluorescence properties that are distinct from those of unfolded polymers or free monomers. We hypothesize that the origins of folding and self‐assembly come from interactions between molecular units, and that the key parameter that regulates the on‐and‐off of such interactions is the distance R separating the two molecular units. Each molecular unit produces a characteristic force field, and when another molecular unit enters this field, the probability that the two units will interact increases significantly. A preliminary estimate of the radius of such a force field for the perylene tetracarboxylic diimide chromophore is about 90–120 Å. As a result, phenomena associated with folding or self‐assembly of molecular species are observed when these conditions are met in solution.
pH‐Sensitive Modulation of the Second Hydration Sphere in Lanthanide(III) Tetraamide–DOTA Complexes: A Novel Approach to Smart MR Contrast Media
Authors: Woods Mark , Zhang Shanrong , Ebron Von Howard , Sherry A. Dean 
Published: October 2003

AbstractThe lanthanide(III) complexes of three tetraamide DOTA bearing pyridyl, phenolic and hydroxypyridyl substituents have been studied by NMR, luminescence and cyclic voltammetry. The relaxivity profiles of the gadolinium complexes of the pyridyl and phenolic ligands were flat and essentially the same between pH 2 and 8. The hydroxypyridyl ligand, however, exhibited two regions of enhanced relaxivity. The small relaxivity enhancement (25 %) at lower pH (pH 2–4) has been attributed to an increase in the prototropic exchange of the coordinated water molecule while the slightly larger enhancement (84 %) at higher pH (pH 6–9) reflects deprotonation of the ligand amide protons. Deprotonation of the amides results in the formation of an intramolecular acid–base pair interaction with the phenolic protons and this, in turn, causes a highly organized second hydration sphere to come into effect, thereby increasing the relaxivity. The water relaxivity of the Gd3+‐hydroxypyridyl complex is further enhanced upon binding to serum albumin.