bluuebunny/crossref_metadata_2025_split huggingface dataset:
There may be two tumor suppressor genes on chromosome arm Ip closely associated with biologically distinct subtypes of neuroblastoma
Authors: Takeda Osamu , Homma Chieko , Maseki Nobuo , Sakurai Masaharu , Kanda Naotoshi , Schwab Manfred , Nakamura Yusuke , Kaneko Yasuhiko 
Published: February 2007

AbstractWe studied loss of heterozygosity (LOH) on chromosome arm Ip in 108 neuroblastomas using 14 polymorphic DNA markers. One‐hundred and four tumors with one or more informative loci; 21 (20%) of the 104 tumors showed LOH on Ip, and were classified into three groups on the basis of interstitial or terminal allelic loss, and presence or absence of LOH on Ip. Seven of the 21 tumors showed an interstitial deletion which encompassed a small region in Ip36 (group A), and the other 14 showed a terminal deletion which encompassed the region from I pter to Ip32 (group B). Eighty‐three tumors without LOH on I p were classified as group C. The group A patients were mostly less than 12 months of age (6/7), were frequently found by a mass screening program for infants (5/7), had a tumor of non‐adrenal origin, and rarely progressed to stage IV (1/7). Most group B patients were 12 months or older (11/14), were found clinically (11/14), had tumors of adrenal origin, and progressed to stage IV (10/14). Analysis of biologic characteristics in group C tumors suggested that they may comprise group A and B tumors. While all group A tumors were in the triploid range (3n) (4/4), most group B tumors were diploid (2n) or tetraploid (4n) (7/10). MYCN amplification was found in 8 group B tumors, but in none of group A tumors. Event‐free survivals of groups A, B, and C patients at 3 years were 86, 49, and 74%, respectively (P = 0.0287). These findings suggest that there may be two tumor suppressor genes on Ip which are closely associated with two biologically distinct subtypes of neuroblastoma. Genes Chrom Cancer 10:30–39 (1994). © 1994 Wiley‐Liss, Inc.
Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence
Authors: Molenaar Willemina M. , Berg Eva Van Den , Veth Rene P. H. , Dijkhuizen Trijnie , De Vries Elisabeth G. E. 
Published: February 2007

AbstractA malignant fibrous histiocytoma (MFH) of bone arising in the fibula of a 21‐year‐old woman is described. Clinical, radiologic, and histologic findings demonstrated rapid tumor progression. Chromosomal analysis of the biopsy specimen showed great karyotypic heterogeneity, whereas the resection specimen four weeks later displayed a rather homogeneous karyotype. Both revealed a clonal t(14;22)(q11;p12). Several other clonal and non‐clonal chromosomal aberrations were observed. Some of these were previously described in giant cell tumor of bone (GCTB) and may correlate with aggressive behavior, e.g., aberrations involving 8p 11, 19q 13, and 20q 13. The change from karyotypic heterogeneity to relative homogeneity may be related to tumor progression. The chromosomal findings further suggest that the giant cell type of MFH of bone may be related to malignant GCTB. Genes Chrom Cancer 10:66–70 (1994). © 1994 Wiley‐Liss, Inc.
I;17 translocations and other chromosome 17 rearrangements in human primary neuroblastoma tumors and cell lines
Authors: Van Roy Nadine , Laureys Geneviève , Cheng Ngan Ching , Willem Pascale , Opedenakker Ghislain , Versteeg Rogier , Speleman Frank 
Published: February 2007

AbstractWe report on the finding of a t(1;17) in two primary neuroblastomas. Subsequent fluorescence in situ hybridization (FISH) analysis revealed the presence of 1; 17 transfocations in four out of nine neuroblastoma cell lines. The chromosome 1 short arm breakpoints were determined using region‐specific probes. FISH screening also demonstrated or confirmed the presence of 11;17 translocations in three cell lines and other chromosome 17 rearrangements in those cell lines that did not carry a t(1; 17) or t(11; 17). Our data extend previous cytogenetic findings and suggest that, in addition to the known involvement of chromosome I, one or more genes on chromosome 17 also play a role in neuroblastoma development. Genes Chromosom Cancer 10:103–114 (1994). © 1994 Wiley‐Liss, Inc.
Allelotype study of esophageal carcinoma
Authors: Aoki Takahisa , Mori Takahiro , Xiqun Du , Nisihira Tetsuro , Matsubara Toshiki , Nakamura Yusuke 
Published: February 2007

AbstractTo investigate genetic features of esophageal cancer, we have examined 93 squamous cell carcinomas of the esophagus for loss of heterozygosity (LOH), using 41 restriction fragment length polymorphism (RFLP) markers representing all autosomal chromosomes. Allelic losses at frequencies of at least 30% were observed at loci on chromosomal arms 3p (35%), 3q (30%), 5q (36%), 9p (57%), 9q (60%), 10p (33%), 13q (43%), 17p (62%), 17q (46%), 18q (38%), 19q (32%), and 21q (37%). These results suggest that several putative tumor suppressor genes, in addition to the cyclin D and TP53 genes that are sometimes mutated in esophageal carcinomas, may be associated with development and/or progression of esophageal cancer. By a comparison of LOH on each chromosomal arm with clinicopathological parameters, we have found a significant correlation between LOH on 19q and regional lymph node metastases. Interestingly, the frequency of LOH on 17q was significantly higher in tumors in female patients (12 of 14 cases) than in those in male patients (20 of 56 cases) (P = 0.0009 by Fisher's exact test). Furthermore, we examined for mutations of the APC gene on chromosome arm 5q. Screening of nearly one third of the APC coding region, including the MCR (mutation cluster region), revealed no alterations. Therefore, although allelic loss at the APC locus is frequent in squamous cell carcinomas of the esophagus, it is likely that a gene on 5q other than APC is involved in esophageal tumorigenesis. Genes Chromosom Cancer 10:177–182 (1994). © 1994 Wiley‐Liss, Inc.
Correlation of loss of heterozygosity at 11 p with tumour progression and survival in non‐small cell lung cancer
Authors: Fong Kwun M. , Zimmerman Paul V. , Smith Peter J. 
Published: February 2007

AbstractLoss of heterozygosity (LOH) affecting loci at 11 p 13 and 11 p 15 occurs in childhood and adult carcinomas, including non‐small cell lund cancer (NSCLC). In NSCLC, the highest reported frequency of LOH was 72% at the 11 p 13 catalase (CAT) locus. As this locus is centromeric to the Wilms' tumour (WTI) locus, possible involvement of WTI in the pathogenesis of NSCLC was considered. We thus examined 101 cases of NSCLC for LOH at the WTI and five other polymorphic loci along 11 p. At 11 p 13, the frequencies of LOH were 20% (9/46) at the FSHB locus, 9% (5/53) at the WTI locus, and 15% (6/41) at the CAT locus. The shortest region of overlap (SRO) at 11p13 was mapped centromeric to, but excluding, the WTI locus. Only adenocarcinomas showed LOH in this region. At 11 p 15, LOH affected 23% (18/77) of informative cases, with the highest frequency of 36% at the insulin (INS) locus. The SRO at 11 p15 was mapped telomeric to the RRMI locus. A third region, at 11 p13–15 between WTI and RRMI, was also affected by LOH. LOH at 11p correlated significantly with advanced T stage and nodal involvement in NSCLC tumours. In the squamous cell carcinoma subtype, LOH along 11p also correlated with nodal involvement. Furthermore, squamous tumours with LOH involving 11p13 loci had significantly worse survival than those without LOH. These data suggest that tumor suppressor gene(s) on 11p affect the progression of NSCLC, particularly squamous cell carcinomas. Genes Chromosom Cancer 10:183–189 (1994). © 1994 Wiley‐Liss, Inc.
Isochromosomes in neoplasia
Authors: Mertens Fredrik , Johansson Bertil , Mitelman Felix 
Published: February 2007

AbstractIn order to ascertain the frequency and distribution of isochromosomes in neoplasia, we surveyed the cytogenetic data from 20,007 tumors with clonal chromosome aberrations reported in the literature. Tumor types for which at least 50 cases with acquired aberrations and 10 cases with isochromosomes had been reported were selected, yielding a total of 18, 160 neoplasms. Of these, 1,792 cases (9.9%) displayed a total of 2,014 isochromosomes. The 9 most common isochromosomes (detected in at least 50 cases) were, in decreasing order of frequency, i(17q), i(8q), i(lq), i(12p), i(6p), i(7q), i(9q), i(5p), and i(21q). The frequency of isochromosomes varied among the different tumor types, with the highest incidence in germ cell neoplasms (60%) and the lowest in chronic myeloproliferative disorders (2.3%). Also, the spectrum of isochromosomes differed among the neoplasms. The most common isochromosomes in the different tumor types were i(I Iq), i(I7q), and i(2Iq) in acute myeloid leukemia; i(9q), i(I7q), and i(22q) in chronic myeloid leukemia; i(I7q) in chronic myeloproliferative disorders; i(X)(qI3), i(I7q), and i(2Iq) in myelodysplastic syndromes; i(7q), i(9q), and i(I7q) in acute lymphoblastic leukemia; i(Iq), i(7q), i(8q), and i(I7q) in chronic lymphoproliferative disorders; i(Iq), i(6p), i(9p), i(I7q), and i(2Iq) in Hodgkin's disease; i(Iq), i(6p), and i(7q) in non‐Hodgkin's lymphoma; i(Iq), i(8q), and i(I7q) in adenocarcinoma; i(Iq), i(3q), i(5p), and i(8q) in squamous cell carcinoma; i(5p), i(8q), and i(IIq) in transitional cell carcinoma; i(Iq), i(7q), and i(I7q) in Wilms' tumor, i(Iq), i(I2p), and i(I7q) in germ cell neoplasms; i(Ip), i(Iq), i(6p), and i(I7q) in sarcoma; i(5p), i(6p), i(7p), and i(2Iq) in mesothelioma; i(lq), i(6p), and i(I7q) in malignant neurogenic neoplasms; i(Iq), i(6p), and i(I7q) in retinoblastoma; and i(Iq), i(6p), and i(8q) in malignant melanoma. Genes Chromosom Cancer 10:221–230 (1994). © 1994 Wiley‐Liss, Inc.
Detection of numerical and structural chromosome abnormalities in pediatric germ cell tumors by means of interphase cytogenetics
Authors: Stock Cornelia , Ambros Inge M. , Lion Thomas , Haas Oskar A. , Zoubek Andreas , Gadner Helmut , Ambros Peter F. 
Published: February 2007

AbstractIn contrast to the cytogenetically well characterized testicular germ cell tumors (GCT) in adults, reports on cytogenetic studies in pediatric GCT are scarce. The presence of an i(12p) and numerical abnormalities involving chromosome 12 are the most frequent cytogenetic changes in GCT of adults. We have performed in situ hybridization (ISH) studies on paraffin sections and on isolated nuclei of 13 pediatric GCT with particular emphasis on those chromosome abnormalities that are common in adult GCT. These include numerical and structural abnormalities of chromosomes 1 and 12 as well as numerical deviations of chromosomes 8, 10, X, and Y. The histological subsets of the tumors investigated included two dysgerminomas (DGE), one seminoma (SE), two embryonal carcinomas (EC), four mixed and two pure yolk sac tumors (YST), and one undifferentiated (IT) and one differentiated teratoma (TD). Similar to the GCT in adults, additional copies of chromosome 12 were the most frequently observed numerical abnormalities. In contrast to the findings in adult GCT, changes in the size of the pericentromeric hybridization signals of chromosome 12, suggesting the presence of i(12p) chromosomes, were found in only two cases. No chromosome abnormalities were found in the pure TD or in the TD cells of mixed tumors containing a YST component. In the YST portion, however, Ip deletions and/or numerical chromosome changes were present. Surprisingly, deletions of the short arm of chromosome I, del(I)(p36.3), were frequent in pediatric GCT and were the sole abnormality detected in two cases. The Ip36 deletions were present in all stage‐IV EC and YST investigated and were absent in the relatively benign TD and in one YST stage‐I. Therefore, Ip36 deletions may have value as a prognostic marker in pediatric GCT.
The two genes generating RET/PTC3 are localized in chromosomal band 10q11.2
Authors: Minoletti Fabiola , Butti Marta Giaele , Coronelli Silvia , Miozzo Monica , Sozzi Gabriella , Pilotti Silvana , Tunnacliffe Alan , Pierotti Marco A. , Bongarzone Italia 
Published: February 2007

AbstractPCR analysis of DNA from a selected panel of human‐rodent somatic cell hybrids and fluorescent in situ hybridization (FISH) analysis allowed us to localize the human ELEI gene. This previously uncharacterized gene is fused with the tyrosine kinase (tk) domain of the RET proto‐oncogene to generate the oncogenic sequence RET/PTC3, thus providing a third example of RET oncogenic activation in papillary thyroid carcinomas. ELEI was localized to band 10q11.2, the subband where RET also maps, at a minimum distance of more than 500 kb from the proto‐oncogene. The fusion event corresponding to the rearrangement reciprocal to that leading to the formation of RET/PTC3 was also identified and characterized. The karyotype of two RET/PTC3 positive tumors did not show any evidence of chromosome 10 abnormalities. The data indicate that a cytogenetically undetectable paracentric inversion within 10q11.2 generates RET/PTC3.
Cloning and characterization of the t(X;II) breakpoint from a leukemic cell line identify a new member of the forkhead gene family
Authors: Parry Pauline , Wei Yalin , Evans Glen 
Published: February 2007

AbstractChromosome translocations involving 11q23 are associated with a number of different types of leukemia. These translocations fuse a gene encoding a putative transcription factor, HTRXI, to genes on other chromosomes. We report cloning and sequencing the t(X;II) breakpoint region from a cell line established from an infant with acute lymphocytic leukemia. The gene AFXI, on the X chromosome, is expressed in a variety of cell types. Sequence analysis indicates a high degree of homology between AFXI and the forkhead family of transcription factors. The high degree of identity within the forkhead region and the lack of homology outside that region suggest that AFXI represents a novel forkhead family member. It is predicted that a chimeric fusion protein with altered DNA binding activity will be the result of the translocation.
Analysis of glioma cell lines for amplification and overexpression of MDM2
Authors: He Ju , Reifenberger Guide , Liu Lu , Collins V. Peter , James C. David 
Published: February 2007

AbstractRecently, amplification of the gene encoding a p53 binding protein, MDM2, was determined in 8% of the cases constituting a large series of glioblastomas. Here we have utilized Southern blot analysis to examine 30 cell lines established from such tumors, and our investigation has revealed large increases in MDM2 gene dosage in two cases, one of which showed coamplification of the CDK4 gene that resides in close proximity to MDM2 in chromosomal region 12q13–14. Northern analysis demonstrated overexpression of MDM2 mRNA in the two cell lines with gene amplification, and overexpression of MDM2 protein was evident in each of these by immunohistochemical and Western blot analysis. Analysis of TP53 cDNAs revealed normal TP53 sequences in the cell lines with MDM2 amplification; these results are consistent with those of previous studies suggesting that MDM2 amplification occurs only in tumors expressing wild‐type p53. In total, these data suggest that MDM2 amplification in glioblastoma cell lines occurs at a frequency (6.7%) comparable to that determined in primary tumors; occurs in cell lines expressing wild‐type p53; and can involve the coamplification of additional genes.
Localization of beckwith‐wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5
Authors: Salt Sheila N. J. , Nowak Norma J. , Singh‐Kahlon Pal , Weksberg Rosanna , Squire Jeremy , Shows Thomas B. , Higgins Michael J. 
Published: February 2007

AbstractChromosome rearrangements have provided useful landmarks to identify disease loci and have served as starting points for positional cloning strategies for candidate genes. We have used fluorescence in situ hybridization (FISH) and pulsed‐field gel electrophoresis (PFGE) to map three Beckwith‐Wiedemann syndrome (BWS) breakpoints and a rhabdoid tumor breakpoint more precisely. These breakpoints mapped to the interval between D11S679 and the insulin‐like growth factor 2 (IGF2) gene on 11p15.5. A cosmid (c15‐2) was identified that mapped centromeric to the BWS t(11;16) and the rhabdoid tumor‐associated t(11;22), telomeric to the BWS t(11;22), and was found to span the BWS‐associated inv(11) breakpoint. Pulsed‐field gel analysis placed all four breakpoints into a 250‐675 kb interval distal to D11S679 and at least 270 kb centromeric to the IGF2 and H19 loci. These data locate all three BWS rearrangements and the rhabdoid tumor t(11;22) breakpoint in the same region of 11p 15.5, suggesting that they may be affecting the same locus or closely linked loci. Cosmid c15‐2 provides a well‐defined starting point in the search for candidate disease genes.
Y chromosome loss in chronic myeloid leukemia detected in both normal and malignant cells by interphase fluorescence in situ hybridization
Authors: Kirk Judy A. , Vandevanter Donald R. , Biberman Jennifer , Bryant Eileen M. 
Published: February 2007

AbstractLoss of the Y chromosome in bone marrow (BM) cells is a normal age‐associated event. Y chromosome loss is also observed in the Philadelphia chromosome (Ph) positive BM cells of some patients with chronic myeloid leukemia (CML) in chronic phase, but at a younger age than in normal individuals. While the significance of loss of the sex chromosome in normal males is uncertain, ‐Y marrow cells are not believed to be of clonal origin. However, because CML is a clonal disease, CML sub‐populations with Y loss may constitute a disease‐related sub‐clone. We used a PCR‐amplified yeast artificial chromosome containing the BCR gene region for single color interphase analysis of BCR rearrangement by fluorescence in situ hybridization (FISH). Then, using two color FISH, with one fluorochrome detecting the BCR gene region and the other detecting Y chromosome repeat sequences, we surveyed peripheral and BM Y loss in both normal Ph‐ (BCR not disrupted) and CML Ph+ (BCR rearranged) interphase nuclei of two patients with Y loss in Ph positive cells observed by metaphase analysis. ‐Y was seen in a proportion of Ph+ cells in both cases, and the proportion matched that seen in Ph‐ cells, indicating that Y loss is probably sporadic in both normal and CML populations, and that the propensity for Y loss in normal BM cells may be a phenotype that can be retained by malignant cells in CML.
Integrated YAC contig containing the 3pl4.2 hereditary renal carcinoma 3;8 translocation breakpoint and the fragile site FRA3B
Authors: Boldog Ferenc L. , Waggoner Barbara , Glover Thomas W. , Chumakov Ilya , Paslier Denis Le , Cohen Daniel , Gemmill Robert M. , Drabkin Harry A. 
Published: February 2007

AbstractAn extended YAC contig has been developed for the 3p14 region containing the hereditary renal carcinoma 3;8 translocation breakpoint and the 3p 14.2 fragile site FRA3B. This region of chromosome 3 has been implicated by chromosomal translocation, deletion, and loss of heterozygosity in the pathogenesis of several malignant diseases. The contig allows accurate positioning of candidate genes, polymorphic markers, and other 3p rearrangements within this region. The contig, spanning approximately 6 Mb of DNA, contains 51 YACs identified by 27 markers, including a subset of CA repeats located in the 3p 14.1–14.2 interval. The order of CA microsatellites, derived from marker content of the YACs, is in agreement with the order previously determined by genetic linkage studies. We find that the protein‐tyrosine phosphatase gamma gene, PTPRG, is located minimally 1 Mb proximal to the t(3;8) breakpoint The more proximal 3p homozygous deletion in the small‐cell lung cancer cell line, U2020, is more than 5 Mb from the site of the 3;8 translocation. This integrated physical and genetic map provides a framework for further investigations of malignant diseases associated with proximal 3p loss. In addition, the positioning of separate 3p 14.2 aphidicolin‐induced breakpoints suggests that FRA3B may represent a region rather than a single site.
Dynamics of spontaneous transitions between global brain states
Authors: Ito Junji , Nikolaev Andrey R. , Leeuwen Cees van 
Published: February 2007

AbstractPhase patterns of human scalp alpha EEG activity show spontaneous transitions between different globally phase‐synchronized states. We studied the dynamical properties of these transitions using the method of symbolic dynamics. We found greater predictability (deterministicity) and heterogeneity in the dynamics than what was expected from corresponding surrogate series in which linear correlations are retained. A possible explanation of these observations within the framework of chaotic itinerancy is discussed. Hum Brain Mapp, 2007. © 2007 Wiley‐Liss, Inc.
Sex specificity of ventral anterior cingulate cortex suppression during a cognitive task
Authors: Butler Tracy , Imperato‐McGinley Julianne , Pan Hong , Voyer Daniel , Cunningham‐Bussel Amy Christine , Chang Luke , Zhu Yuan‐Shan , Cordero Juan J. , Stern Emily , Silbersweig David 
Published: February 2007

AbstractVentral anterior cingulate cortex (vACC) is a highly interconnected brain region considered to reflect the sometimes competing demands of cognition and emotion. A reciprocal relationship between vACC and dorsal ACC (dACC) may play a role in maintaining this balance between cognitive and emotional processing. Using functional MRI in association with a cognitively‐demanding visuospatial task (mental rotation), we found that only women demonstrated vACC suppression and inverse functional connectivity with dACC. Sex differences in vACC functioning—previously described under conditions of negative emotion—are extended here to cognition. Consideration of participant sex is essential to understanding the role of vACC in cognitive and emotional processing. Hum Brain Mapp, 2007. © 2007 Wiley‐Liss, Inc.
Cortical functional connectivity networks in normal and spinal cord injured patients: Evaluation by graph analysis
Authors: Fallani Fabrizio De Vico , Astolfi Laura , Cincotti Febo , Mattia Donatella , Marciani Maria Grazia , Salinari Serenella , Kurths Jurgen , Gao Shangkai , Cichocki Andrzej , Colosimo Alfredo , Babiloni Fabio 
Published: February 2007

AbstractThe present work aims at analyzing the structure of cortical connectivity during the attempt to move a paralyzed limb by a group of spinal cord injured (SCI) patients. Connectivity patterns were obtained by means of the Directed Transfer Function applied to the cortical signals estimated from high resolution EEG recordings. Electrical activity were estimated in normals (Healthy) and SCI patients on twelve regions of interest (ROIs) coincident with Brodmann areas. Degree distributions showed the presence of few cortical regions with a lot of outgoing connections in all the cortical networks estimated irrespectively of the frequency band investigated. For both of the groups (SCI and Healthy), bilateral cingulate motor area (CMA) acts as hub transmitting information flows. The efficiency index, allowed to assert the ordered properties of such estimated cortical networks in both populations. The comparison of such estimated networks with those obtained from random networks, elicited significant differences (P < 0.05, Bonferroni‐corrected for multiple comparisons). A statistical comparison (ANOVA) between SCI patients and healthy subjects showed a significant difference (P < 0.05) between the local efficiency of their respective networks. For three frequency bands (theta 4–7 Hz, alpha 8–12 Hz, and beta 13–29 Hz) the higher value observed in the spinal cord injured population entails a larger level of internal organization and fault tolerance. This fact suggests a sort of compensative mechanism as local response to the alteration in their MIF areas, which is probably due to the indirect effects of the spinal injury. Hum Brain Mapp, 2007. © 2007 Wiley‐Liss, Inc.