bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of extensive genomic loss and gain by comparative genomic hybridisation in malignant astrocytoma in children and young adults
Authors: Warr Tracy , Ward Samantha , Burrows Jenny , Harding Brian , Wilkins Peter , Harkness William , Hayward Richard , Darling John , Thomas David 
Published: August 2002

AbstractAlthough astrocytomas are the most common central nervous system tumours in all age groups, there is substantial evidence that tumours arising in young patients (< 25 years of age) do not have the same genetic abnormalities that are characteristic of tumours in older patients. Furthermore, novel, consistent changes have not been identified in astrocytomas in children and young adults. We analysed 13 malignant astrocytomas from young patients using comparative genomic hybridisation. Regions of genomic imbalance were identified in 10 cases. The most common recurrent copy number aberrations were loss of 16p (54% of cases), 17p (38%), 19p (38%), and 22 (38%) and gain on 2q (38%), 12q (38%), 13 (38%), 4q (31%), 5q (31%), and 8q (31%). Seven regions of high copy number amplification were observed at 8q21–22 (three cases), 7q22–23 (two cases), and 1p21–22, 2q22, 12q13‐pter, 12q15–21, and 13q11–14 (one case each). This study provides evidence of new characteristic chromosomal imbalances from which potential candidate genes involved in the development of malignant astrocytoma in children and young adults may be identified. © 2001 Wiley‐Liss, Inc.
Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect
Authors: Auroy Stéphane , Avril Marie‐Françoise , Chompret Agnès , Pham Danièle , Goldstein Alisa M. , Bianchi‐Scarrà Giovanna , Frebourg Thierry , Joly Pascal , Spatz Alain , Rubino Carole , Demenais Florence ,   French Hereditary Melanoma Study Group, Bressac‐de Paillerets Brigitte 
Published: August 2002

AbstractMultiple primary cancers are one of the hallmarks of inherited predisposition. Outside the familial context, multiple primary tumors could be related either to germline de novo mutations or to low‐penetrance mutations, in predisposing genes. We selected 100 patients who displayed multiple primary melanoma (MPM) without any known melanoma cases recorded within their families and looked for germline mutations in the two melanoma‐predisposing genes identified to date, CDKN2A and CDK4 exon 2. Nine patients (9%) had germline mutations in CDKN2A, whereas none carried germline mutations in exon 2 of CDK4. Seven cases displayed a recurrent missense mutation, G101W, already described in more than 20 melanoma‐prone families; one case carried a missense mutation never reported to date (P114S), and the last case was a carrier of a 6 bp insertion at nucleotide 57 resulting in a duplication of codons 18 and 19. To ascertain whether the G101W was a mutational hot spot for de novo mutations or a common founder mutation, we genotyped eight microsatellite markers flanking the CDKN2A gene. After allowing for recombination over time, haplotype sharing provided evidence for an original G101W mutation common to 6 out of 7 sporadic MPM cases. Therefore, it can be concluded that de novo germline CDKN2A mutations associated with MPM are rare. © 2001 Wiley‐Liss, Inc.
Differentially amplified chromosome 12 sequences in low‐ and high‐grade osteosarcoma
Authors: Gisselsson David , Pålsson Eva , Höglund Mattias , Domanski Henryk , Mertens Fredrik , Pandis Nikos , Sciot Raf , Dal Cin Paola , Bridge Julia A. , Mandahl Nils 
Published: August 2002

AbstractMost osteosarcomas are highly aggressive malignancies characterized by a complex pattern of chromosome abnormalities. However, a subgroup of low‐grade, parosteal tumors exhibits a relatively simple aberration pattern dominated by ring chromosomes carrying amplified material from chromosome 12. To assess whether sequences from this chromosome were differentially amplified in low‐ and high‐grade osteosarcomas, copy numbers of the CCND2, ETV6, KRAS2, and D12S85 regions in 12p and the MDM2 region in 12q were evaluated by interphase or metaphase fluorescence in situ hybridization (FISH) in 24 osteosarcomas. Amplification of MDM2 was detected in all five low‐grade and four high‐grade osteosarcomas, all of which showed ring chromosomes. An overrepresentation of 12p sequences was found in 1/5 low‐grade and in 9/19 high‐grade tumors. Multicolor single‐copy FISH analysis of metaphase cells from six high‐grade tumors showed that extra 12p material either occurred together with MDM2 in ring chromosomes or was scattered over the genome as a result of complex structural rearrangements. Most tumors (8/10) not containing amplification of the assessed chromosome 12 loci exhibited a nondiploid pattern at evaluation with probes for centromeric alpha satellite sequences. These findings indicate that gain of sequences from the short arm of chromosome 12 could be a possible genetic pathway in the development of aggressive osteosarcoma. © 2002 Wiley‐Liss, Inc.
Involvement of ATM missense variants and mutations in a series of unselected breast cancer cases
Authors: Rodriguez Carmen , Vallès Hélène , Causse Annick , Johannsdottir Vala , Eliaou Jean‐François , Theillet Charles 
Published: August 2002

AbstractIt has been proposed that women carrying heterozygous mutations of the ATM gene could be at increased risk of developing breast cancer. However, data in the literature are contrasting and no firm conclusion has been reached. Our aim was to verify whether ATM inactivation could play a role in breast tumor development. Following the classical tumor suppressor inactivation scheme, tumors showing loss of heterozygosity (LOH) at the ATM locus should present an increased proportion of mutated ATM forms. We screened a cohort of 173 nonselected primary breast tumors for LOH in a 4 cM region at 11q23 spanning the ATM gene. We analyzed 25 tumors presenting LOH within the ATM locus for mutations in the ATM coding sequence using an RT‐PCR‐SSCP approach. Five patients were found to bear a coding missense variant, out of which four corresponded to a frequent polymorphism in exon 39. One patient presented a previously unreported variant in exon 19 (2614C>T) resulting in a nonconservative change (Pro>Ser) at aa 872. This variant was not found in any of the other 172 patients nor in 63 healthy controls tested, indicating that it is a rare ATM variant. LOH involved the ATM wild‐type allele in the tumor presenting variant 2614. However, because the ATM gene presents a relatively large number of rare coding polymorphism it is difficult, in the absence of familial data, to be conclusive on the significance of this variant. Searching for further variants in exons 19 and 39 in the whole set of 173 breast tumors, we found one tumor showing an acquired deletion of four bases in the ATM gene. Somatic mutations affecting the ATM gene thus seem rare in breast cancer. In our cohort of breast cancer patients, tumors presenting LOH at the ATM locus did not show an increased frequency of sequence variants. Furthermore, allelic imbalance profiles in a 4‐cM region of chromosome arm 11q spanning the ATM locus revealed that hot spots of LOH were more likely to correspond to a region localized telomeric to the gene. Therefore, these data suggest that other target genes for genetic inactivation exist in the 11q23 region. © 2002 Wiley‐Liss, Inc.
Larval development in Cnidaria: A connection to bilateria?
Authors: Gröger Hans , Schmid Volker 
Published: August 2002

AbstractSummary: Among the basal animal phyla, the Cnidaria display many characteristics similar to the Bilateria (the higher Metazoa). However, the relation of that outgroup phyla to the Bilateria is still equivocal. Additionally to morphological and genetic data, studies on cnidarian embryogenesis are essential to clarify the Cnidaria‐Bilateria relationship. We analyzed cellular differentiation during planula larvae development of the jellyfish Podocoryne carnea. Within 24 to 30 h postfertilization, the diploblastic body structure and all cell types found in polyps have already differentiated in the larva. Whereas the differentiating smooth muscles, RFamide‐positive nerve cells, or nematocytes (stinging cells) express no axial polarity, a newly discovered tyrosine‐tubulin‐positive nervous system develops gradually in repetitive patterns from anterior to posterior. These data demonstrate that part of the cnidarian nervous system develops from anterior to posterior in serially repeated patterns. This developmental mechanism seems to follow the bilaterian pattern and would have antedated the Cambrian explosion. genesis 29:110–114, 2001. © 2001 Wiley‐Liss, Inc.
Extension of variance components approach to incorporate temporal trends and longitudinal pedigree data analysis
Authors: de Andrade Mariza , Guéguen René , Visvikis Sophie , Sass Catherine , Siest Gérard , Amos Christopher I. 
Published: August 2002

AbstractHere we present a method that permits one to evaluate genetic effects and to detect genetic linkages by using serial observations of quantitative traits in pedigrees. We developed a statistical method that incorporates longitudinal family data and genetic marker information into an estimating equations framework. With this approach, we can study changes in components over time that measure polygenic and major genetic variances as well as shared and individual‐specific environmental effects. Our method provides a measure of heritability from analysis of longitudinal data. Results using longitudinal family data from the Center for Preventive Medicine (Nancy, France) are presented. The results of our analysis show that the apolipoprotein E locus has no effect on interindividual variability in systolic blood pressure. We found that the longitudinal measure of heritability of systolic blood pressure is 0.32. Genet. Epidemiol. 22:221–232, 2002. © 2002 Wiley‐Liss, Inc.
Tumor necrosis factor‐α promoter variant 2 (TNF2) is associated with pre‐term delivery, infant mortality, and malaria morbidity in western Kenya: Asembo Bay Cohort Project IX
Authors: Aidoo Michael , McElroy Peter D. , Kolczak Margarette S. , Terlouw Dianne J. , ter Kuile Feiko O. , Nahlen Bernard , Lal Altaf A. , Udhayakumar Venkatachalam 
Published: August 2002

AbstractA polymorphism in the promoter region of the tumor necrosis factor‐α (TNF‐α) gene, with a guanine to adenine nucleotide change at position –308, TNF2 is associated with increased TNF‐α production. TNF2 homozygotes have a higher risk of severe disease and/or death due to cerebral malaria and other infectious diseases. We investigated the impact of this allele on malaria morbidity and mortality in young children who participated in an immuno‐epidemiologic cohort study of malaria in an area of intense perennial Plasmodium falciparum transmission in western Kenya. A total of 1,048 children were genotyped. Poisson regression and Cox proportional hazards models were used to determine the relationship between TNF‐308 variants and morbidity and mortality. The gene frequencies of the TNF1 and TNF2 alleles were 0.90 and 0.10, respectively. TNF2 homozygosity was associated with pre‐term birth when compared with TNF1 homozygotes [relative risk (RR) 7.3, 95% CI, 2.85–18.9, P = 0.002) and heterozygotes (RR 6.7, 95% CI 2.0–23.0, P = 0.008). Among children born prematurely, the TNF2 allele was significantly associated with a higher risk of death in infancy compared with TNF1 (RR 7.47, 95% CI 2.36–23.6). The risk of death was higher among TNF2 homozygotes than among heterozygotes. The TNF2 allele was significantly associated with high density P. falciparum parasitemia (RR 1.11, 95% CI 1.0–1.24). Among low birth weight children, the TNF2 allele was associated with severe anemia (RR 2.16, 95% CI 1.17–4.01) and showed a trend toward a risk for severe malaria anemia (RR 1.99, 95% CI 0.89–4.46). These data suggest that TNF2 is a risk factor for pre‐term birth and early childhood mortality and malaria morbidity in children in this region. Further understanding of the pathogenic mechanisms underlying this association is required. Genet. Epidemiol. 21:201–211, 2001. © 2001 Wiley‐Liss, Inc.
L1 expressed by glioma cells promotes adhesion but not migration
Authors: Senner Volker , Kismann Elmar , Püttmann Sylvia , Hoess Norbert , Baur Inge , Paulus Werner 
Published: August 2002

AbstractL1 is an adhesion molecule of the immunoglobulin superfamily expressed by several types of cancer, including gliomas. It has been shown that L1 can act as chemoattractant to glioma cells, while the effects of L1 expressed by glioma cells themselves are unknown to date. We established a C6 rat glioma clone, conditionally expressing murine L1 under control of a tetracycline responsive promoter. In vitro experiments revealed increased adhesion on matrigel as well as increased intercellular adhesion in the presence of L1, whereas no L1‐dependent effects on proliferation or migration on either matrigel or myelin were observed. In vivo experiments using transplantation into nude mouse striatum, where L1 expression by glioma cells was regulated by tetracycline via drinking water, did not show effects of L1 on tumor size or brain invasion. Our data suggest that L1 expressed on the surface of glioma cells increases cell‐matrix and intercellular adhesion, but has no apparent effects on proliferation and invasion. GLIA 38:146–154, 2002. © 2002 Wiley‐Liss, Inc.
Expression of theKrüppel‐type zinc finger protein rKr2 in the developing nervous system†
Authors: Lovas Gabor , Li Wen , Pott Uwe , Verga Trevor , Hudson Lynn D. 
Published: August 2002

AbstractZinc finger transcription factors of theKrüppel‐class figure prominently in cell fate specification and differentiation in the nervous system. One of theKrüppel‐type genes that was originally cloned from an oligodendrocyte library by virtue of its homology with the prototypicKrüppelmotif is the ratrKr2gene (Pott et al.,1995). In primary cultures of rat glial cells, the rKr2 protein was only present in the oligodendrocyte lineage, predominantly in progenitors. Ninety percent of A2B5+oligodendrocyte progenitors displayed rKr2 immunoreactivity, while most MBP+oligodendrocytes lacked detectable rKr2. A similar pattern was found in vivo, in which the peak expression of rKr2 in the oligodendrocyte lineage of rats coincided with the wave of progenitor proliferation in early postnatal life. The subventricular zone, a source of neuronal and glial progenitors, displayed intense staining for rKr2 at late embryonic and postnatal stages. In the adult, cells within the remnants of this germinal zone continued to express rKr2 protein strongly. Some populations of mature neurons also displayed rKr2 immunostaining. Astrocytes and microglia were not labeled with the polyclonal anti‐rKr2 antibody in vitro or in vivo. At all developmental stages, the rKr2 protein was localized to the nucleus. The stage‐specific expression pattern and the subcellular localization of rKr2 recommend a role for thisKrüppel‐type gene in the progression of neural stem cells and in the early development of the oligodendrocyte lineage. GLIA 34:110–120, 2001. © 2001 Wiley‐Liss, Inc.
The thiohydroxamate system
Authors: Chimiak A. , Przychodzen W. , Rachon J. 
Published: August 2002

AbstractThe natural occurrence of thiohydroxamates, their methods of preparation, reactivity, properties of their derivatives including Barton's esters and complexes during the last 25 years, as well as a survey of their biological properties are reported in this review. © 2002 Wiley Periodicals, Inc. Heteroatom Chem 13:169–194, 2002; Published online in Wiley Interscience (www.interscience.wiley.com). DOI 10.1002/hc.10017
Intramolecular cyclization of ω‐haloalkylsubstituted thiophosphorylacetonitriles: Synthesis and stereochemistry of 3‐cyano‐2‐oxo‐1,2‐thiaphosphacyclanes
Authors: Odinets Irene L. , Vinogradova Natalya M. , Lyssenko Konstantin A. , Antipin Michail Yu. , Petrovskii Pavel V. , Mastryukova Tatyana A. 
Published: August 2002

AbstractIntramolecular S‐alkylation in a series of ω‐haloalkyl‐substituted thiophosphorylacetonitriles 5–7 presents an effective synthetic route to the hitherto unknown 3‐cyano‐2‐oxo‐1,2‐thiaphospholanes 14 and thiaphosphinanes 15. The compounds were obtained as a mixture of cis‐ and trans‐isomers that were resolved to individual stereoisomers in most cases. For some of them, X‐ray diffraction analysis has been performed. It was shown that 31P NMR spectroscopy can be used to assign the stereochemistry of 3‐cyano‐2‐oxo‐1,2‐thiaphosphacyclanes. © 2002 John Wiley & Sons, Inc. Heteroatom Chem 13:1–21, 2002; DOI 10.1002/hc.1101
Efficient synthesis and crystal structure of 2‐propyl‐5‐(substituted)phenyl‐1,4‐dioxo‐1,2,3,4,5,6,7,8‐octahydro‐[1,4,2]diazaphosphorino[1,2‐a] [1,3,2]benzodiazaphosphorine 3‐oxides
Authors: Huang Junmin , Chen Hui , Chen Ruyu 
Published: August 2002

AbstractIn order to search for novel antitumor and antiviral agents with high activity and low toxicity, some 2‐propyl‐5‐(substituted)phenyl‐1,4‐dioxo‐1,2,3,4,5,6,7,8‐octahydro‐[1,4,2]diazaphosphorino[1,2‐a][1,3,2]benzodiazaphosphorine 3‐oxides (2a–e) have been designed incorporating the proximate carbonyl and phosphoryl groups into the benzoannulated phosphadiamide heterocycle and synthesized in acceptable yields. These compounds contain the proximate carbonyl and phosphoryl groups in the fused heterocycle. Their structures were confirmed by spectroscopic methods and microanalyses. The results from X‐ray crystallography analysis of 2a showed that the proximate carbonyl and phosphoryl groups are not coplanar because of their being jointly located in the fused heterocycle, having ring tension, and this then destroys the conjugation between the CO and the PO moieties. As a result, the length of the PC bonds measured as 1.851(3)–1.852(3) Å are just the same as that of a PC bond not involved in conjugation (1.80–1.85 Å). Also,the C(1), C(2), C(3), N(2), N(3), and P(1) atoms of the [1,4,2]diazaphosphorino moiety exist preferably in the boat conformation. The coplanar C(1), C(3), N(2), and N(3) atoms, within an average deviation of 0.0102 Å, form the ground floor of the boat conformation, whereas the P(1) and C(2) atoms are on the same side of the coplanar structure with the distance of 0.7067 and 0.6315 Å, respectively. © 2002 John Wiley & Sons, Inc. Heteroatom Chem 13:63–71, 2002; DOI 10.1002/hc.1107
Activation of the dentate gyrus by stimulation of the contralateral perforant pathway: Evoked potentials and long‐term potentiation after ipsi‐ and contralateral induction
Authors: Krug Manfred , Brödemann Rudolf , Matthies Renate , Rüthrich Heinz , Wagner Maria 
Published: August 2002

AbstractRats were chronically implanted with stimulation electrodes in the perforant pathway (pp) bilaterally and a recording electrode in the dentate gyrus (DG) unilaterally. Evoked field potentials (EPs) were recorded upon alternating stimulation of the pp on both sides, and long‐term potentiation (LTP) was induced. Besides the EP after ipsilateral stimulation, an EP with a latency of approximately 5.5–6.5 ms was also seen upon stimulation of the contralateral pp. This potential was reversibly abolished during pentobarbital anesthesia and irreversibly after lesioning of the ipsilateral angular bundle. Paired‐pulse facilitation and paired‐pulse depression, depending on interstimulus interval and intensity, were also observed. Therefore, this long‐latency potential could be characterized as polysynaptic and induced perhaps by transsynaptic activation via the ipsilateral entorhinal cortex. Ipsilateral tetanization induced strong E/S potentiation of both the ipsilaterally and contralaterally evoked EP, but with different time courses. Tetanization of the contralateral pp did not induce LTP of the ipsilaterally induced EP in the first 4 h. But afterwards a late and slowly developing potentiation occurred. The contralaterally induced EP also showed potentiation of the population spike, which was not immediately detectable but developed slowly over time. The results can be interpreted such that, after stimulation of the pp, the DG on the opposite side cannot only be activated via the weak crossed entorhinal projection but also transsynaptically via an entorhino/entorhinal connection. Hippocampus 2001;11:157–167. © 2001 Wiley‐Liss, Inc.
Projections from the lateral, basal, and accessory basal nuclei of the amygdala to the entorhinal cortex in the macaque monkey
Authors: Pitkänen Asla , Kelly Jennifer L. , Amaral David G. 
Published: August 2002

AbstractWe used the anterograde tracers Phaseolus vulgaris‐leucoagglutinin (PHA‐L) and biotinylated dextran amine (BDA) to examine the projections from the lateral, basal, and accessory basal nuclei of the amygdaloid complex to the entorhinal cortex in Macaca fascicularis monkeys. The heaviest amygdaloid projections originate in the lateral nucleus, which innervates the rostrally situated entorhinal fields but does not project to the caudal entorhinal cortex. The most extensive projections originate in the ventral division of the lateral nucleus. Injections in this subdivision lead to moderate to heavy fiber and terminal labeling in the entorhinal cortex, rostral levels of the rostral intermediate EI (ER) and lateral fields, (ELr), and light labeling in the olfactory field EO. The projections from all portions of the lateral nucleus terminate most heavily in layer III. Layer II of EO and ER also receives a substantial input from the ventral division of the lateral nucleus. Layer II of ELr receives light innervation from all portions of the lateral nucleus that project to layer III. Projections from the basal nucleus arise mainly from the parvicellular division and are light to moderate in density. Fibers terminate predominantly in ELr, ER, EO, and the caudal portion of the lateral field (Elc); only the most rostral portion of EI receives projections. While fibers from the basal nucleus innervate the same layers as the projections from the lateral nucleus, they tend to have a more vertical or radial orientation within the entorhinal cortex. Electron microscopic analysis of these fibers and terminals indicates that they overwhelmingly form asymmetrical synapses onto dendrites and dendritic spines. The accessory basal nucleus provides a light projection to the same regions of the entorhinal cortex innervated by the lateral and basal nuclei. Hippocampus 2002;12:186–205. © 2002 Wiley‐Liss, Inc.