bluuebunny/crossref_metadata_2025_split huggingface dataset:
Closed‐form parameter estimates for a truncated gamma distribution
Authors: Brawn Dan , Upton Graham 
Published: February 2007

AbstractGamma distributions are used by atmospheric scientists to model the distribution of raindrop diameters. However, the recording instruments (known as disdrometers) are unable to record the sizes of the smallest drops, so that the recorded distribution (which consists of group frequencies) is truncated. Although the method of maximum likelihood can be used to estimate the parameters of such a truncated and grouped distribution, this method is not customarily used by practitioners. Their preference has been for the very simple method of moments. Many different combinations of moments have been suggested, with a preference for the use of higher moments both because of their physical relevance (to the volume of water, the attenuation of radio signals or radar reflectivity) and because of the low‐end truncation. However, the difficulty in accurately estimating higher moments leads to these estimates often being biased and invariably having high variance. Recognising the attraction of a computationally simple procedure, we introduce a method that uses a combination of moment relationships and weighted linear regression to give explicit formulae for parameter estimates. We compare the performance of these estimates with both maximum likelihood and moment estimates for untruncated, singly truncated and doubly truncated gamma distributions. We show that our simple closed‐form estimates compare favourably with the optimal maximum likelihood estimates. Copyright © 2007 John Wiley & Sons, Ltd.
Germ‐line and somatic mutations of the APC gene in patients with turcot syndrome and analysis of APC mutations in brain tumors
Authors: Mori Takahiro , Nagase Hiroki , Horii Akira , Miyoshi Yasuo , Nakatsuru Shuichi , Aoki Takahisa , Arakawa Hirofumi , Nakamura Yusuke , Shimano Takashi , Yanagisawa Akio , Ushio Yukitaka , Takano Sadamu , Ogawa Michio , Nakamura Masato , Shibuya Masabumi , Nishikawa Ryo , Matsutani Masao , Hayashi Yasuhide , Takahashi Hitoshi , Ikuta Fusahiro , Nishihira Tetsuro , Mori Shozo 
Published: February 2007

AbstractThe Turcot syndrome (TS) is a rare, probably autosomal recessive, disorder characterized by development of primary neuroepithelial tumors of the central nervous system (CNS) and numerous adenomatous colorectal polyps. To examine the possible involvement of mutations of the APC gene, which is responsible for familial adenomatous polyposis (FAP), in Turcot syndrome, we examined DNAs from TS patients for alterations in this gene by means of ribonuclease protection analysis. Germ‐line APC mutations were detected in each of three unrelated cases of TS, and additional (somatic) mutations were observed in colonic adenomas that had developed in one of these patients. However, no somatic mutations in APC were found among 91 neuroepithelial tumors (medulloblastoma, glioblastoma, astrocytoma, and oligodendroglioma). whether sporadic or associated with TS. These results suggest that the APC gene is associated with pathogenesis of one feature of TS, but that at least one other gene is responsible for the genesis of neuroepithelial tumors in the CNS. Genes Chrom Cancer 9:168‐172 (1994). © 1994 Wiley‐Liss, Inc.
t( 12;21): A new recurrent translocation in acute lymphoblastic leukemia
Authors: Romana Serge P. , Coniat Maryvonne Le , Berger Roland 
Published: February 2007

AbstractA t(12;21)(p11 ‐p12;q22) was detected by chromosome painting in three patients with acute lymphoblastic leukemia (ALL) among eight ALL cases with 12p‐ abnormalities. The three leukemias had similar immunophenotypes (DR+, CD10 +, CD19 + ). Fluorescence in situ hybridization (FISH) experiments using YAC clones from 21q21‐q22 were performed to better localize the breakpoint on chromosome 21. This breakpoint was localized to 21q22.2 in one patient. Although only one case of ALL with t( 12;21) has been reported previously, the present results suggest that t( 12;21) is a recurrent translocation in ALL. Genes Chrom Cancer 9:186‐191 (1994). © 1994 Wiley‐Liss, Inc.
Recurrent cytogenetic abnormalities in squamous cell carcinomas of the head and neck region
Authors: Van Dyke Daniel L. , Worsham Maria J. , Drumheller Timothy , Benninger Michael S. , Krause Charles J. , Baker Shan R. , Wolf Gregory T. , Carey Thomas E. , Tilley Barbara C. 
Published: February 2007

AbstractWe characterized the breakpoints, gains, and losses of chromosome material in squamous cell carcinomas of the head and neck region from 29 patients. Cell lines were karyotyped in 1/3 of cases, direct preparations or early in vitro harvests in 1/3, and both in 1/3 of cases. GTG‐banding was employed in all cases, as were C‐banding and RBG‐ and AgNOR‐staining in most. Some tumors were near‐diploid and others near‐tetraploid, but many had mixed populations, with diploid, tetraploid, and octoploid subclones representing essentially the same karyotypic pattern. The most frequent changes were deletions. Losses affecting 3p13‐p24, 5q12‐q23, 8p22‐p23, 9p21 ‐p24, and 18q22‐q23 ranged in frequency from 40% to 60% of tumors. Loss of the short arm of the inactive X occurred in 70% of tumors from female patients, and loss or rearrangement of the Y occurred in 74% of tumors from male patients. Loss of 18q appeared to be associated with short survival, as did the presence of multiple deletions. There was gain (2‐5 extra copies) of 3q21 ‐qter, 5p, 7p, 8q, and 11q 13‐q23 in 28‐38% of tumors. Three tumors had an hsr involving 11q13‐q21. Gain of material at 11q13 is postulated to be associated with amplification of the PRADI/CCND gene at that locus. A translocation between proximal 1 p and either an acrocentric short arm or proximal 8p or 9p was observed in squamous cell carcinomas of the head and neck region but not in female genital tract tumors. No other abnormalities appeared to be site specific, suggesting a pattern of genetic evolution in squamous cell carcinoma that is independent of anatomic site. Genes Chrom Cancer 9:192‐206 (1994). © 1994 Wiley‐Liss, Inc.
DNA rearrangements and altered transcripts of the MLL gene in a human T‐all cell line karpas 45 with a t(X;II) (q13;q23) translocation
Authors: McCabe Norah R. , Kipiniak Magdalena , Kobayashi Hirofumi , Thirman Michael , Gill Heidi , Rowley Janet D. , Diaz Manuel O. 
Published: February 2007

AbstractTranslocations involving chromosome band 11q23 are found in both lymphoid and myeloid leukemias as well as in lymphomas, and we have recently reported that rearrangement of the MLL gene is involved in these translocations. The chromosomes most frequently involved in reciprocal translocations include chromosomes 4, 6, 9, and 19, and we and others have reported that chromosomes 1, 2, 10, 15, 17, 18, 22, and X are also involved. In the cell line Karpas 45, which has a t(X;II) (q13;q23) translocation, we report here that the MLL gene is rearranged and that there are two altered transcripts of MLL that come from the der(11) chromosome. Genes Chrom Cancer 9:221‐224 (1994). © 1994 Wiley‐Liss, Inc.
Chromosome abnormalities in benign prostatic hyperplasia
Authors: Aly Magdy S. , Cin Paola Dal , Van Den Berghe Herman , Van De Voorde Wim , Van Poppel Hein , Ameye Filip , Baert Luc 
Published: February 2007

AbstractWe combined conventional cytogenetic analysis and fluorescence in situ hybridization of short‐term cultures of 28 samples from benign prostatic hyperplasia. Lou of the Y chromosome was the most common chromosome change, followed by trisomy 7. Trisomy 7, however, may be unrelated to the origin of benign prostate hyperplasia, in which the only and not very specific change seems to be the loss of the Y chromosome. Genes Chrom Cancer 9:227‐233 (1594). © 1994 Wiley‐Liss, Inc.
Molecular analysis of simple variant translocations in acute promyelocytic leukemia
Authors: Borrow Julian , Howe Kathy , Goddard Audrey , Solomon Ellen , Shipley Janet , Kiely Fiona , Sheer Denise , Srivastava Arun , Antony Asok C. , Fioretos Thoas , Mitelman Felix 
Published: February 2007

AbstractThe primary cytogenetic abnormality in acute promyelocytic leukemia (APL; FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. A PML‐RARA fusion message transcribed from the der(15) is thought to mediate leukemogenesis. Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT‐PCR), and fluorescence in situ hybridization. The results indicate an absolute requirement for the rearrangement of the RAARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation. Genes Chrom Cancer 9:234‐243 (1994). © 1994 Wiley‐Liss, Inc.
Chromosome 13 transfer provides evidence for regulation of RBI protein expression
Authors: Anderson Michael J. , Fasching Clare L , Stanbridge Eric J. , Xu Hong‐Ji , Benedict William F. 
Published: February 2007

AbstractThe human retinoblastoma susceptibility gene (RBI) located on chromosome 13 has been shown to function as a growth/tumor suppressor gene in a large number of human cancers. Although constitutive expression has been observed in most cultured cells and normal tissues, overexpression of RBI protein has not been well documented. Perhaps regulating the level of normal RBI protein expression is one of several ways of controlling its function. To test this hypothesis we transferred normal copies of chromosome 13 via microcell fusion into the human fibrosarcoma cell line HT1080. Microcell hybrids were generated that contained one, two, or three extra copies of the transferred fibroblast chromosome 13. Compared to the parental cell line, the hybrids were completely unaltered with respect to several properties in vitro and in vivo, including morphology, growth rate, and tumor formation. Northern blot analysis revealed a stepwise increase in RBI mRNA expression which increased in proportion to the number of alleles present in each cell line. Although RBI protein exhibited correct nuclear localization and was phosphorylated in a normal cell cycle‐dependent manner in the hybrids, the increased level of protein expression in each hybrid was nearly identical and did not increase beyond a threshold amount, although mRNA expression continued to increase. These results demonstrate that HT1080 cells can tolerate an increased level of RBI protein, but that expression beyond a certain level may be down‐regulated. These transfer studies provide evidence for regulation of RBI protein expression and may suggest an alternative form of monitoring and controlling normal RBI functioning. Genes Chrom Cancer 9:251‐260 (1994). © 1994 Wiley‐Liss, Inc.
Breakpoints of burkitt's lymphoma t(8;22) translocations map within a distance of 300 kb downstream of MYC
Authors: Zeidler Reinhard , Lipp Martin , Joos Stefan , Delecluse Henri‐Jacques , Bornkamm Georg W. , Klobeck Gustav , Vuillaume Michele , Lenoir Gilbert M. 
Published: February 2007

AbstractThe variant translocation t(8;22) in Burkitt's lymphoma (BL) cells joins band q24 of chromosome 8 distal to the proto‐oncogene MYC to the immunoglobulin lambda locus. The distribution of breakpoints on chromosome 8 of 11 cell lines with t(8;22) has been investigated by in situ fluorescence hybridization and pulsed‐field gel electrophoresis. We show that these chromosomal breakpoints generally fall within a region of about 300 kb 3′ of MYC and that at least 8 out of 11 affect the previously characterized transcriptional unit PVT1. Comparable results were obtained in earlier experiments analyzing the variant t(2;8). Recently, in a series of BL cells carrying t(8;14), breakpoints upstream of MYC have been described at a similar distance. Therefore, our results suggest that deregulation of MYC by the immunoglobulin loci can occur at a distance of up to about 350 kbp of MYC. Genes Chrom Cancer 9:282‐287 (1994). © 1994 Wiley‐Liss, Inc.
A synovial sarcoma with a complex t(X; 18;5;4) and a break in the ornithine aminotransferase (OAT)LI cluster on Xp11.2
Authors: Olde Weghuis D. , De Leeuw B. , Suijkerbuijk R. F. , Van Kessel A. Geurts , Stoepker M. E. J. , Van Den Berg E. , De Jong B. , Molenaar W. M. 
Published: February 2007

AbstractThe initial cytogenetic analysis of a biphasic synovial sarcoma revealed complex anomalies involving six different chromosomes: 46,Y,t(X185;4)(p11;q11;p13;q12),t(2;5)(q35;q11). After fluorescence in situ hybridization (FISH) analysis, using chromosome X‐specific plasmid library and YAC probes, the situation appeared to be even more complex, with an insertion of part of the X chromosome short arm into the der(5)t(5;18). In spite of these complex chromosomal rearrangements, the Xp11 breakpoint could be mapped to within the ornithine aminotransferase (OAT)LI cluster, very similar to that reported previously for the standard t(X 18)(p11;q11) in synovial sarcomas. These findings suggest common pathogenetic pathways in these cytogenetically different but morphologically similar tumors. Genes Chrom Cancer 9:288‐291 (1994). © 1994 Wiley‐Liss, Inc.
Comparative genomic hybridization as a tool to define two distinct chromosome 12‐derived amplification units in well‐differentiated liposarcomas
Authors: Suijkerbuijk Ron F. , Weghuis Daniel E. M. Olde , Van Den Berg Margot , Van Kessel Ad Geurts , Pedeutour Florence , Turc‐Carel Claude , Forus Anne , Myklebost Ola , Glier Cliff 
Published: February 2007

AbstractWell‐differentiated liposarcomas (WDLPS) are frequently characterized by a near‐diploid karyotype with supernumerary ring and/or giant rod‐shaped marker chromosomes. We have shown, using fluorescence in situ hybridization (FISH) and molecular strategies, that these markers contain chromosome 12‐derived sequences. Here we report the analysis of six WDLPS for the presence of amplified DNA segments by means of the recently developed comparative genomic hybridization (CGH) strategy. Two distinct chromosome 12‐derived amplification units could be identified in all tumors examined, one located in the q 14‐q 15 region as expected, the second unexpectedly mapping to q21.3‐q22. Our results indicate that the concerted amplification of these two distinct regions on the long arm of chromosome 12 may be a consistent characteristic of WDLPS. These amplifications are most likely directly related to the presence of supernumerary ring and/or giant marker chromosomes in this group of soft tissue tumors. Genes Chrom Cancer 9:292‐295 (1994). © 1994 Wiley‐Liss, Inc.
Allelic loss at 1 p is associated with tumor progression of meningiomas
Authors: Bello M. Josefa , Pestaña Angel , Rey Juan A. , De Campos Jose M. , Kusak M. Elena , Vaquero Jesus , Sarasay Jose L. 
Published: February 2007

AbstractNext to chromosome 22 anomalies, deletions of the short arm of chromosome I have previously been described as the most frequent alteration detected by cytogenetic analysis of meningiomas. To determine the incidence of these deletions, we have analyzed a series of 50 meningiomas for the loss of alleles at four chromosome I loci. Thirteen samples displayed LOH for the markers studied; in one instance, the results were compatible with loss of the entire chromosome I, whereas in the other 12 samples deletions of the short arm were observed. Eleven of the meningiomas had previously been shown to have loss of alleles on chromosome 22, and 12 of them were characterized by increased tumor aggressiveness. These findings suggest that deletion of 1p (or the alteration of a locus located there) might represent a secondary, but nonrandom alteration in meningiomas, perhaps contributing to meningioma tumor progression. Genes Chrom Cancer 9:296‐298 (1994). © 1994 Wiley‐Liss. Inc.
Definition of a new entity of malignant extragonadal germ cell tumors
Authors: van Echten Jannie , de Jong Bauke , Sinke Richard J. , Weghuis Daniël Olde , Sleijfer Dirk Th. , Wolter Oosterhuis J. 
Published: February 2007

AbstractTwo malignant extragonadal germ cell tumors are reported, histologically classified as immature teratomas, having pseudodiploid karyotypes with complex structural rearrangements but lacking isochromosome 12p or other rearrangements involving 12p. The absence of 12p material in structural rearrangements was confirmed by chromosome painting. In the two tumors the following common chromosomal breakpoints were found: 6p21, 6p22, 6q23, and 11q13. Exactly the same chromosomal regions, 6p22::6q23 and 6p21::11q13, were involved in fusions. The two tumors belong to a new entity of extragonadal immature teratomas of adults which may be located in the retroperitoneum and posterior mediastinum and are prone to blood borne metastasis.
Allelic imbalance on chromosome I in human breast cancer. I. Minisatellite and rflp analysis
Authors: Loupart Marie‐Louise , Adams Susan , Brammar William , Armour John , Walker Rosemary , Varley Jennifer 
Published: February 2007

AbstractIn order to characterise the role of chromosome I more fully in breast cancer, polymorphic markers mapping along the length of the whole chromosome were used to assess a panel of 71 tumour‐lymphocyte pairs for allelic imbalance. Complex patterns of alterations were established that are consistent with cytogenetic data in the literature. Deletion mapping of individuals with loss of heterozygosity identified five independent smallest common regions of deletion, two of which are novel. There are also three discrete regions showing a gain in copy number of one homologue. The two arms of the chromosome may be subject to different events; the short arm primarily undergoes interstitial deletions, whereas the long arm is subject to whole arm events (as both gains and losses) as well as regional deletions.
Diffuse large cell lymphomas exhibit frequent deletions in 9p21–22 and 9q31–34 regions
Authors: Chaganti Seeta R. , Louie Diane C. , Chaganti R. S. K. , Gaidano Gianluca , Dalla‐Favera Riccardo 
Published: February 2007

AbstractWe have previously identified deletions of 9p and 9q in a cytogenetic analysis of a large series of non‐Hodgkin's lymphomas (NHLs), which suggested loss of candidate tumor suppressor genes (TSGs). In order to define these deletions at the molecular level, we performed an LOH analysis of a panel of paired normal and tumor DNAs comprising 13 cases of diffuse lymphoma with a large cell component (DLLC) and 18 cases of Burkitt's lymphoma (BL). The loci tested comprised eight polymorphic probes mapped to 9p (D9S33, D9S25, IFNB, IFNA, IFNW, D9S126, D9S3, and D9S19) and seven polymorphic probes mapped to 9q (D9S29, ASS, AKI, ABL, D9S10, D9S7, and D9S14). In this analysis, among cases informative for all loci in each subset, 5/13 (38%) DLLC and 4/18 (22%) BL showed LOH at 9p loci, whereas 5/13 (38%) DLLC and 3/18 (16%) BL showed LOH at 9q loci. Among the 9p loci partial homozygous or heterozygous losses were observed in 20–50% of informative cases of DLLC at D9S25, IFNB, IFNA, IFNW, D9S126, and D9S3, whereas in BL, losses at these loci ranged from 0% to 11%. Among the 9q loci, heterozygous losses were observed in >20% of informative cases of DLLC at D9S7 (23%) and D9S29 (27%), whereas no losses were seen at these two loci in BL. These data demonstrate a high level of molecular deletion in DLLC, but not in BL, suggesting that loss of one or more TSGs on chromosome 9 plays an important role in DLLC development.
Molecular evidence that childhood monosomy 7 syndrome is distinct from juvenile chronic myelogenous leukemia and other childhood myeloproliferative disorders
Authors: Butcher Mark , Frenck Robert , Emperor John , Paderanga Dorothy , Maybee David , Olson Kristin , Shannon Kevin 
Published: February 2007

AbstractThe observation that juvenile chronic myelogenous leukemia (JCML) and childhood bone marrow monosomy 7 syndrome (Mo 7) are similar in many clinical and epidemiologic respects suggests a shared pathogenic basis and raises the possibility that the bone marrows of patients with JCML might lose chromosome 7 alleles by mechanisms that do not result in detectable cytogenetic deletions. We used a series of polymorphic markers mapped to chromosome 7 to test this hypothesis in 22 children with MPS and MDS, including 19 with JCML. All MPS and MDS samples demonstrated allelic heterozygosity with at least one chromosome 7 marker; 16 were heterozygous with probes from both 7p and 7q. Furthermore, the percentage of patient bone marrow samples heterozygous at each locus tested was similar to the frequency observed in the normal population. Whereas these data demonstrate that submicroscopic loss of large segments of chromosome 7 alleles is uncommon in children with MPS and MDS who do not have Mo 7, they do not exclude small deletions around an uncharacterized tumor‐suppressor locus. Our results suggest that a number of distinct molecular events contribute to leukemogenesis, and we propose a multistep model to explain the similarities and differences between the major subtypes of childhood MPS and MDS.
Allelic losses on chromosome band 11q13 in aldosterone‐producing adrenal tumors
Authors: Iida Aritoshi , Nakamura Yusuke , Imai Takashi , Blake Kirsten , Tunny Terry , Klemm Shelley , Stowasser Michael , Gordon Richard , Hayward Nicholas 
Published: February 2007

AbstractWe examined loss of heterozygosity (LOH) in 14 aldosterone‐producing adrenal tumors, with six linearly ordered restriction fragment length polymorphism (RFLP) markers that map within a 12‐cM region containing the MEN 1 locus on 11q13. Among 11 tumors that were informative for at least one marker, five showed LOH at one or more loci, and two distinct regions of deletion were identified. The proximal region overlapped with the location of the MEN 1 locus previously predicted by linkage analyses in MEN 1 families and the commonly deleted region in hyperparathyroid tumors. This suggests that one of the genes associated with development of aldosterone‐producing adrenal tumors may coincide with the MEN 1 locus, and that a second gene, distal to the MEN 1 locus, may also play a role in the development of this type of tumor.
Frequent Loss of Chromosome Arms 8p and 13q in Collecting Duct Carcinoma (CDC) of the Kidney
Authors: Schoenberg Mark , Brooks James D. , Marshall Fray F. , Epstein Jonathan I. , Isaacs William B. , Cairns Paul , Sidransky David 
Published: February 2007

AbstractCollecting duct carcinoma (CDC) is a malignant renal neoplasm that is believed to arise from the epithelium of the ducts of Bellini in the distal nephron. These tumors are clinically aggressive and more often occur in a younger population than is typical of the more common clear cell renal carcinoma (RCC). Using highly informative polymorphic microsatellite markers on chromosome arms 3p, 5q, 6q, 8p, 9p, 9q, 11p, 13q, 17p, and 18q, we analyzed DNA from nonmalignant and tumor tissue in 6 cases of CDC. We found no evidence of 3p loss of heterozygosity (LOH) in these renal tumors by using multiple markers, a finding that distinguishes CDC from RCC in which 3p LOH has frequently been observed. We found LOH of 8p in 50% of the tumors examined; in addition, we observed LOH of 13q in 50% of the tumors studied. Interestingly, 8p LOH may be associated with high stage and poor clinical prognosis. These data suggest that the molecular events responsible for the development of CDC differ from those associated with the origin of RCC, and that tumor suppressor genes on 8p and 13q may be involved in the pathogenesis of CDC.