bluuebunny/crossref_metadata_2025_split huggingface dataset:
There is no increase in frequency of somatic mutations in metastases compared with primary colorectal carcinomas with microsatellite instability
Authors: Barnetson Rebecca , Eckstein Robert , Robinson Bruce , Schnitzler Margaret 
Published: August 2003

AbstractThis study investigates the molecular features of metastasis in sporadic colon carcinomas with high‐level microsatellite instability (MSI‐H). DNA from 51 regions from 10 MSI‐H metastatic carcinomas and 26 corresponding metastases was analyzed for mutations in TGFBRII, IGFIIR, BAX, MSH3, MSH6, and TCF4, which are associated with MSI‐H carcinomas. In addition, 10 metastatic and 10 non‐metastatic MSI‐H carcinomas and 10 metastatic microsatellite‐stable (MSS) carcinomas were examined for expression of vascular endothelial growth factor (VEGF) and mutant TP53. The frequency of microsatellite instability and somatic mutations was not significantly increased in the metastases compared with the that of primary carcinomas. Although significantly fewer MSI‐H carcinomas expressed VEGF (P < 0.01) and mutant TP53 (P < 0.005) than MSS carcinomas, there was no difference in VEGF and mutant TP53 expression in metastatic and non‐metastatic MSI‐H carcinomas. In conclusion, metastasis does not appear to be associated with an increase in somatic mutation rate in any of the genes examined in MSI‐H colon carcinomas. Furthermore, VEGF and TP53 expression did not appear to be involved in metastasis in MSI‐H colon carcinomas. © 2003 Wiley‐Liss, Inc.
Cytogenetic characterization of tumors of the vulva and vagina
Authors: Micci Francesca , Teixeira Manuel R. , Scheistrøen Marit , Abeler Vera M. , Heim Sverre 
Published: August 2003

AbstractNeoplasms of the vulva and vagina account for less than 5% of all female genital tract cancers. Squamous cell carcinoma (SCC) represents more than 70% of the cases in both locales, followed by melanoma, basal cell carcinoma, Paget's disease, and other carcinoma subtypes. Until recently, only few cases had been analyzed by chromosome banding techniques and karyotyped, and also the number subjected to molecular cytogenetic analysis remains low. To understand better the genetic changes harbored by the neoplastic cells in cancer of the vulva and vagina, we analyzed cytogenetically 51 such tumors, finding karyotypic abnormalities in 37. All tumors were analyzed by G‐banding, sometimes supplemented by multicolor fluorescence in situ hybridization, and a subset of tumors was also analyzed by comparative genomic hybridization. The two cytogenetically abnormal cases of Paget's disease both had two clones, one with gain of chromosome 7 as the sole change, the other with loss of the X chromosome among, in one case, other aberrations. The four cytogenetically abnormal malignant melanomas (three of the vulva, one of the vagina) presented complex karyotypes with aberrations involving different chromosomes but most often chromosome 1, specifically 1p12–q41. In the 31 cytogenetically abnormal SCCs, different clonal karyotypic abnormalities were seen. Intratumor heterogeneity with multiple clones was observed in 11 cases. The clones were cytogenetically unrelated in eight tumors but related in three, indicating that in the latter clonal evolution had taken place from a single malignantly transformed cell. The main chromosomal imbalances were gains of, or from, chromosome arms 3q, 5p, 8q, 9q, and 19q, and loss from 11q. Breakpoint clusters were seen in 11q13–23, 2q22–35, and 19q13, as well as in the centromeres and pericentromeric bands of chromosomes 3, 8, 9, 13, 14, and 22. © 2003 Wiley‐Liss, Inc.
Classical Hodgkin lymphoma is associated with frequent gains of 17q
Authors: Chui Daniel T.Y. , Hammond David , Baird Margaret , Shield Lesley , Jackson Robert , Jarrett Ruth F. 
Published: August 2003

AbstractThe etiology of Hodgkin lymphoma (HL) is poorly understood, and studies of the genetics of this disease have been hampered by the scarcity of the Hodgkin and Reed–Sternberg (HRS) cells within tumors. To determine whether recurrent genomic imbalances are a feature of HL, CD30‐positive HRS cells were laser‐microdissected from 20 classical Hodgkin lymphomas (cHLs) and four HL‐derived cells lines and subjected to analyses by comparative genomic hybridization. In primary tumors, the most frequently involved chromosomal gains were 17q (70%), 2p (40%), 12q (40%), 17p (40%), 22q (35%), 9p (30%), 14q (30%), and 16p (30%), with minimal overlapping regions at 17q21, 2p23–13, 12q24, 17p13, 22q13, 9p24–23, 14q32, 16p13.3, and 16p11.2. The most frequent losses involved 13q (35%), 6q (30%), 11q (25%), and 4q (25%), with corresponding minimal overlapping regions at 13q21, 6q22, 11q22, and 4q32. Statistical analysis revealed significantly more gains of 2p and 14q in the older adult cases; loss of 13q was associated with a poor outcome. The results suggest that there is a set of recurrent chromosomal abnormalities associated with cHL and provide further evidence that cHL is genetically distinct from nodular lymphocyte predominance Hodgkin lymphoma (NLPHL). Abnormalities of 17q are infrequent in other lymphomas or NLPHL; this finding, coupled with current knowledge of gene expression in cHL, suggests that genes present on 17q may play an important role in the pathogenesis of cHL. © 2003 Wiley‐Liss, Inc.
ALK‐ATIC fusion in urinary bladder inflammatory myofibroblastic tumor
Authors: Debiec‐Rychter Maria , Marynen Peter , Hagemeijer Anne , Pauwels Patrick 
Published: August 2003

AbstractIn this report, we describe an inflammatory myofibroblastic tumor (IMT) of the urinary bladder in a 46‐year‐old man. Tumor cells presented striking cytoplasmatic ALK immunopositivity. Cytogenetic and FISH analysis, by use of a multicolor chromosome 2 banding probe, revealed a 46,XY,der(2)(2pter→2p23:2q35→2q37:2p11→2q35:2p23→2p11:2q37→2qter) karyotype. Subsequent FISH and RT‐PCR analysis confirmed the ALK‐ATIC chimeric fusion in tumor cells. This is the first evidence of a variant rearrangement involving the ATIC gene in IMT and the first cytogenetic description of an IMT originating from the urinary bladder. © 2003 Wiley‐Liss, Inc.
Premature chromosome condensation revisited: A novel chemical approach permits efficient cytogenetic analysis of cancers
Authors: Bezrookove Vladimir , Smits Ron , Moeslein Gabriela , Fodde Riccardo , Tanke Hans Johannes , Raap Anton Klaas , Darroudi Firouz 
Published: August 2003

AbstractChemical induction of premature chromosome condensation (PCC) was investigated and optimized to be able to analyze the chromosomal constitution of cancer cells independent of mitosis and with minimal culture artifacts. A potent protein phosphatase inhibitor, calyculin A, was used to induce PCC in normal diploid cells, in several established human tumor cell lines, and in cells isolated from freshly dissected adenomatous polyps of a patient with hereditary colorectal cancer. In parallel, mitotic arrest was pursued by use of Colcemid. In cell lines, a difference of up to 10‐fold was found between frequency of cells with PCC induced by calyculin A (PCC index) and the mitotic index after treatment with Colcemid. In the fresh tumor specimens, Colcemid failed to result in metaphase formation, whereas a regimen of 80 nM calyculin A for 75 min, after only 2 days of culturing, resulted in a PCC index of 2–5%. pq‐COBRA‐FISH (COmbined Binary RAtio labeling–fluorescence in situ hybridization) was used for a detailed analysis of four cell lines treated with calyculin A, which proved that PCC spreads are amenable to molecular karyotyping, and a comparison between PCC spreads and metaphases from mitotic arrest revealed no discrepancies in karyotypes. pq‐COBRA‐FISH on PCC spreads from fresh colon tumor samples revealed only numerical and no structural abnormalities. Calyculin A–induced PCC combined with multicolor FISH gives a new opportunity for analysis of the chromosomal constitution of G1 and G2 cancer cells and may find application in the study of the role of chromosome instability in cancer development. © 2003 Wiley‐Liss, Inc.
Evaluation of a whole‐genome amplification method based on adaptor‐ligation PCR of randomly sheared genomic DNA
Authors: Tanabe Chikako , Aoyagi Kazuhiko , Sakiyama Tokuki , Kohno Takashi , Yanagitani Noriko , Akimoto Shingo , Sakamoto Michiie , Sakamoto Hiromi , Yokota Jun , Ohki Misao , Terada Masaaki , Yoshida Teruhiko , Sasaki Hiroki 
Published: August 2003

AbstractHigh‐throughput genetic studies often require large quantities of DNA for a variety of analyses. Developing and assessing a whole‐genome amplification method is thus important, especially with the current desire for large‐scale genotyping in previously collected samples for which limited DNA is available. The method we have developed, called PRSG, is based on an adaptor‐ligation–mediated PCR of randomly sheared genomic DNA. An unbiased representation was evaluated by performing PCR on 2,607 exons of 367 genes, which are randomly distributed throughout the genome, on PRSG products of hundreds of individuals. An infrequent loss (<1%) of the exon sequence on the PRSG products was found. Out of 307 microsatellites on various chromosomes, 258 (84%) were amplified in both the PRSG product and an original DNA, whereas 49 (16%) microsatellites were lost only in the PRSG product. Array CGH analysis of 287 loci for measuring the relative gene copy number demonstrated that a low bias was detected. Moreover, this method was validated on 100–1,000 laser‐captured cells from paraffin‐embedded tissues. These data show that PRSG can provide a sufficient amount of genomic sequence for a variety of genetic analyses as well as for long‐term storage for future work. © 2003 Wiley‐Liss, Inc.
Transient RNA interference in hematopoietic progenitors with functional consequences
Authors: Oliveira Daniela M. , Goodell Margaret A. 
Published: August 2003

AbstractSummary: Short interfering (si) RNAs have now been shown to inhibit gene expression in several species, including mammals (Elbashir et al.: Nature 411:494–498, 2001; Fire et al.: Nature 391:806–811, 1998). RNA inhibition in primary cells such as stem cells would facilitate rapid gene discovery in a postgenome era. While retroviruses can deliver siRNA expression cassettes for stable expression (Barton and Medzhitov: Proc Natl Acad Sci USA 99:14943–14945, 2002; Paddison et al.: Proc Natl Acad Sci USA 99:1443–1448, 2002; Rubinson et al.: Nat Genet 33:401–406, 2003), an efficient method for direct transfer of siRNA to stem cells is still lacking. Here, we established electroporation to deliver siRNA to hematopoietic progenitors. On average, at least 80% of cells take up the RNA, and these display nearly 100% knockout of marker gene expression at both the RNA and protein level. Moreover, knockdown of the hematopoietic regulator, CD45, results in 3‐fold more hematopoietic colonies in a progenitor assay. These results demonstrate that transient transfection of siRNA to primary cells can have substantial functional consequences. This technology may be applicable to a variety of primary cell types. genesis 36:203–208, 2003. © 2003 Wiley‐Liss, Inc.
Peduncle of Hydra and the heart of higher organisms share a common ancestral origin
Authors: Shimizu Hiroshi , Fujisawa Toshitaka 
Published: August 2003

AbstractSummary: The heart is assumed to have evolved as the organ for pumping blood. Here we report a pumping phenomenon in Hydra, a member of the phylum Cnidaria. We find that the peduncle, lower quarter of the body column, stores most of the gastrovascular fluid when the animal is an elongate form. Upon contraction of the polyp, the peduncle contracts and transfers the fluid into the rest of the cavity. We also find that Hydra RFamide III, a homolog of cardioexcitatory RFamide neuropeptides in higher organisms, elevates this transfer activity. Further, CnNk‐2, a homolog of a cardiomuscular tissue marker Nkx‐2.5, is expressed in the endodermal tissue of the peduncle. These observations indicate that the transfer of fluid by the peduncle has a similar neurological and genetic basis to the pumping of blood by the heart, suggesting that the Hydra peduncle and the heart of higher organisms share a common ancestral origin. genesis 36:182–186, 2003. © 2003 Wiley‐Liss, Inc.
Conditional knockout of the mouse NADPH‐cytochrome p450 reductase gene
Authors: Wu Lin , Gu Jun , Weng Yan , Kluetzman Kerri , Swiatek Pam , Behr Melissa , Zhang Qing‐Yu , Zhuo Xiaoliang , Xie Qiang , Ding Xinxin 
Published: August 2003

AbstractSummary: NADPH‐cytochrome P450 reductase (CPR or POR) is the obligatory electron donor for all microsomal cytochrome P450 (CYP or P450)‐catalyzed monooxygenase reactions. Disruption of the mouse Cpr gene has been reported to cause prenatal developmental defects and embryonic lethality. In this study, we generated a mouse model with a floxed Cpr allele (termed Cprlox). Homozygous Cprlox mice are fertile and without any histological abnormality or any change in CPR expression. The floxed Cpr allele was subsequently deleted efficiently by crossing Cprlox mice with transgenic mice having liver‐specific Cre expression (Alb‐Cre); the result was a decrease in the level of CPR protein in liver microsomes. The Cprlox strain will be valuable for conditional Cpr gene deletion and subsequent determination of the impact of CPR loss on the metabolism of endogenous and xenobiotic compounds, as well as on postnatal development and other biological functions. genesis 36:177–181, 2003. © 2003 Wiley‐Liss, Inc.
Conservation of Dnmt1o cytosine methyltransferase in the marsupial Monodelphis domestica
Authors: Ding Feng , Patel Carol , Ratnam Sarayu , McCarrey John R. , Chaillet J. Richard 
Published: August 2003

AbstractSummary: Imprinted genes have been identified in both eutherian mammals and in marsupials. In eutherian species, there is a conservation of the imprinting process, both in terms of the genes imprinted and the epigenetic inheritance mechanism. In the mouse, the inheritance of gametic methylation patterns depends on an oocyte‐derived isoform of the Dnmt1 (cytosine‐5)‐methyltransferase protein, Dnmt1o, which functions during preimplantation development to maintain methylation patterns on imprinted alleles. To determine if this component of genomic imprinting is also found in marsupials, Dnmt1 isoforms were examined in somatic cells and germ cells of the South American opossum Monodelphis domestica. There is a Dnmt1o protein in Monodelphis oocytes that is synthesized, as in the mouse, from a different transcript than the somatic Dnmt1 protein. Thus, an essential component of imprinting in eutherian mammals is found in a marsupial species, suggesting that marsupials and eutherian mammals imprint their genes with the same methylation‐dependent mechanism. genesis 36:209–213, 2003. © 2003 Wiley‐Liss, Inc.
Induction of string rescues the neuroblast proliferation defect in trol mutant animals
Authors: Park Youngji , Ng Cristina , Datta Sumana 
Published: August 2003

AbstractSummary: In trol mutants, neuroblasts fail to exit G1 for S phase. Increasing string expression in trol mutants rescues the number of S phase neuroblasts without an increase in M phase neuroblasts. Decreasing string expression further decreased the number of S phase neuroblasts. Coexpression of cyclin E and string did not produce additional S phase cells. Unlike cyclin E, cdk2, and cdk2AF, elevated expression of neither cyclin A, cyclin D, nor cdk1AF was able to promote S phase progression in arrested neuroblasts, indicating that String‐induced activity of a Cyclin A or Cyclin D complex is unlikely to drive trol neuroblasts into S phase. Biochemical analyses revealed a rapid increase of Cyclin E‐Cdk2 kinase activity to wild‐type levels upon increased string expression. These results suggest that Drosophila Cdc25 may directly or indirectly increase the kinase activity of Cyclin E‐Cdk2 complexes in vivo, thus driving arrested neuroblasts into cell division. genesis 36:187–195, 2003. © 2003 Wiley‐Liss, Inc.
Transgenic mice engineered to target Cre/loxP‐mediated DNA recombination into catecholaminergic neurons
Authors: Gelman Diego M. , Noaín Daniela , Avale M. Elena , Otero Verónica , Low Malcolm J. , Rubinstein Marcelo 
Published: August 2003

AbstractSummary: To introduce restricted DNA recombination events into catecholaminergic neurons using the Cre/loxP technology, we generated transgenic mice carrying the Cre recombinase gene driven by a 9 kb rat tyrosine hydroxylase (TH) promoter. Immunohistochemistry performed on transgenic mouse brain sections revealed a high number of cells expressing Cre in areas where TH is normally expressed, including the olfactory bulb, hypothalamic and midbrain dopaminergic neurons, and the locus coeruleus. Double immunohistochemistry and immunofluorescence indicated that colocalization of TH and Cre is greater than 80%. Cre expression was also found in TH‐positive amacrine neurons of the retina, chromaffin cells of the adrenal medulla, and sympathetic ganglia. We intercrossed TH‐Cre mice with the floxed reporter strain Z/AP and observed efficient Cre‐mediated recombination in all areas expressing TH, indicating that transgenic Cre is functional. Therefore, we have generated a valuable transgenic mouse strain to induce specific mutations of “floxed” genes in catecholaminergic neurons. genesis 36:196–202, 2003. © 2003 Wiley‐Liss, Inc.
Differentiation and diversification of the follicular cells in flies: Insight from the studies of the lower brachycerans' ovaries
Authors: Kubrakiewicz Janusz , Jabłońska Anna , Mazurkiewicz Marta , Biliński Szczepan M. 
Published: August 2003

AbstractSummary: Although all dipteran species have ovaries of the same meroistic‐polytrophic type, the structure of individual ovarian follicles (egg chambers) as well as the course of oogenesis in major dipteran taxa are highly diversified and often significantly different from the widely known Drosophila model. In this report we present results of the morphological studies of the ovary structure in the representatives of three families of lower brachycerans (Orthorrhapha) and compare them with the present knowledge of the processes that lead to the formation of a mature egg cell in the model dipteran, the cyclorrhaphan fruit fly, Drosophila melanogaster. The most conspicuous and developmentally significant differences between Drosophila and lower brachycerans were found in the events that accompany the differentiation and diversification of somatic follicular cells. Our observations indicate that the directed migrations of some follicular cells within the egg chamber and the ability of border cells to invade the nurse cell compartment can be considered as evolutionary novelties that evolved in the ancestors of higher brachycerans. genesis 36:214–224, 2003. © 2003 Wiley‐Liss, Inc.
Patients and families desire a patient to be told the diagnosis of dementia: a survey by questionnaire on a Dutch memory clinic
Authors: Dautzenberg Paul L. J. , van Marum Rob J. , van der Hammen Roger , Paling Heleen A. 
Published: August 2003

AbstractBackgroundControversy exists as to whether dementia patients should be told their diagnosis.ObjectiveThis study examined as to whether, both patients with subdued memory impairment and their accompanying relatives want a diagnosis of dementia or somatic disease disclosed to the referred patient.MethodFifty consecutive out‐patients referred to a memory clinic and their accompanying relatives filled in a questionnaire regarding their views on telling the diagnosis to the patient in case of a somatic disease and in case of a dementia. An ordinal scoring system was used (not important 1; little important 2; important 3 and very important 4).ResultsForty‐six (92%) questionnaires were completed. All the patients and their accompanying relatives thought it was at least important that physicians should tell the patient their diagnosis in case of a somatic disease, and 96% of the patients, 100% of the spouse and 94% of the non‐spouse accompanying relatives stated the same in case of a dementia. All the spouses and most of the accompanying relatives showed similar desires for a dementia or somatic diagnosis.ConclusionIn The Netherlands, out‐patients with subdued memory impairment, mostly suffering from a dementing illness, wish to be informed of their diagnosis, therefore should not automatically be considered incompetent. Copyright © 2003 John Wiley & Sons, Ltd.
The role of individual, interpersonal, and organizational factors in mitigating burnout among elderly Chinese volunteers
Authors: Yan Elsie Chau‐wai , Tang Catherine So‐kum 
Published: August 2003

AbstractObjectiveThis study examined the role of individual, interpersonal, and organizational factors in mitigating burnout among elderly Chinese volunteers in Hong Kong.MethodsA total of 295 elderly Chinese volunteers were individually interviewed on their demographic characteristics, voluntary service experience, physical health status, general self‐efficacy, social support, satisfaction and perceived benefit from volunteer work, and burnout symptoms. Exploratory factor analysis was first performed to determine the underlying dimensions of burnout experience. Correlation analyses were then conducted to explore associations among major variables. Hierarchical regression analyses were also performed to unearth the relative contribution of various factors in predicting burnout among elderly volunteers.ResultsA two‐factor structure of burnout, namely lack of personal accomplishment and emotional depletion, was found. Demographics, individual, interpersonal, and organizational factors were significant predictors of lack of personal accomplishment. In particular, personal accomplishment was best predicted by a long duration of voluntary work service and high levels of self‐efficacy, work satisfaction, and perceived benefit. For emotional depletion, only demographics and individual factors were significant predictors. A low level of emotional depletion was best predicted by older age, a short duration of voluntary work experience, and good health.ConclusionsBurnout experience was evident among elderly Chinese volunteers. There were different predictors of affective and cognitive components of burnout. Findings have significant implications to attenuate burnout symptoms among elderly volunteers. Copyright © 2003 John Wiley & Sons, Ltd.