bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of three novel translocations and specific common chromosomal break sites in malignant melanoma by spectral karyotyping
Authors: Sargent Linda M. , Nelson Mark A. , Lowry David T. , Senft Jamie R. , Jefferson Amy M. , Ariza Maria E. , Reynolds Steven H. 
Published: August 2002

AbstractChromosomal aberrations in malignant melanoma cells have been reported using standard chromosome banding analysis and comparative genomic hybridization. To identify marker chromosomes and translocations that are difficult to characterize by standard banding analysis, 15 early passage malignant melanoma cell lines were examined using spectral karyotyping. All 15 tumor cell lines had lost all or part of 1p and 10q. Losses of material on chromosome arms 4p (12/15), 6q (12/15), 9p (15/15), 12p (13/15), 12q (13/15), 13q (11/15), and 19q (14/15) were the next most frequent events. Gain of chromosome arms 1q (11/15), 6p (13/15), and 20q11 (14/15) was also observed. Interestingly, we identified translocations der(12)t(12;20)(q15;q11), der(19)t(10;19)(q23;q13), and der(12)t(12;19)(q13;q13) in 4/15 tumors. Three recurring translocations involving four of the most frequent break points were detected. The identification of recurring translocations and unique chromosome break points in melanoma will aid in the identification of the genes that are important in the neoplastic process. © 2001 Wiley‐Liss, Inc.
Role of disease‐causing genes in sporadic pancreatic endocrine tumors: MEN1 andVHL
Authors: Moore Patrick S. , Missiaglia Edoardo , Antonello Davide , Zamò Alberto , Zamboni Giuseppe , Corleto Vito , Falconi Massimo , Scarpa Aldo 
Published: August 2002

AbstractPancreatic endocrine tumors (PETs) occur in association with multiple endocrine neoplasia type 1 (MEN1) and von Hippel‐Lindau (VHL) syndromes caused by germline alterations in MEN1 and VHL, respectively. It is thus expected that these genes will also be altered in a proportion of sporadic PETs. Indeed, MEN1 is altered in about 25% of nonfamilial PETs, although no mutations have been found in VHL. For all clinical subtypes, the frequency of allelic loss on chromosome arm 11q mirrors observed mutational frequencies, with the exception of nonfunctional tumors (NF‐PETs), in which mutations have been reported in only 8% of cases. As allelic loss on 11q is the most frequent event found in these neoplasms, this low frequency is somewhat puzzling, particularly in light of the fact that most MEN1‐associated PETs are nonfunctioning. To clarify the role of these genes in sporadic PETs, we analyzed 31 sporadic NF‐PETs, nine insulinomas, and one VIPoma for alterations in MEN1 and VHL. As somatic mutations were observed in eight (26%) of the NF tumors and in one insulinoma, it would therefore appear unlikely that an additional tumor suppressor gene related to sporadic PET pathogenesis is located on 11q. One insulinoma also had a somatic mutation in VHL, and thus this gene may also be altered in these neoplasms, albeit in a small proportion of cases. © 2001 Wiley‐Liss, Inc.
DNA polymerase η undergoes alternative splicing, protects against UV sensitivity and apoptosis, and suppresses Mre11‐dependent recombination
Authors: Thakur Manish , Wernick Meredith , Collins Colin , Limoli Charles L. , Crowley Eileen , Cleaver James E. 
Published: August 2002

AbstractPolymerase η (pol η) is a low‐fidelity DNA polymerase that is the product of the gene, POLH, associated with the human XP variant disorder in which there is an extremely high level of solar‐induced skin carcinogenesis. The complete human genomic sequence spans about 40 kb containing 10 coding exons and a cDNA of 2.14 kb; exon I is untranslated and is 6 kb upstream from the first coding exon. Using bacterial artificial chromosomes (BACs), the gene was mapped to human chromosome band 6p21 and mouse band 17D. The gene is expressed in most tissues, except for very low or undetectable levels in peripheral lymphocytes, fetal spleen, and adult muscle; exon II, however, is frequently spliced out in normal cells and in almost half the transcripts in the testis and fetal liver. Expression of POLH in a multicopy episomal vector proved nonviable, suggesting that overexpression is toxic. Expression from chromosomally integrated linear copies using either an EF1‐α or CMV promoter was functional, resulting in cell lines with low or high levels of pol η protein, respectively. Point mutations in the center of the gene and in a C‐terminal cysteine and deletion of exon II resulted in inactivation, but addition of a terminal 3 amino acid C‐terminal tag, or an N‐ or C‐terminal green fluorescent protein, had no effect on function. A low level of expression of pol η eliminated hMre11 recombination and partially restored UV survival, but did not prevent UV‐induced apoptosis, which required higher levels of expression. Polymerase η is therefore involved in S‐phase checkpoint and signal transduction pathways that lead to arrest in S, apoptosis, and recombination. In normal cells, the predominant mechanism of replication of UV damage involves pol η‐dependent bypass, and Mre11‐dependent recombination that acts is a secondary, backup mechanism when cells are severely depleted of pol η. © 2001 Wiley‐Liss, Inc.
Multicolor spectral karyotyping of serous ovarian adenocarcinoma
Authors: Rao Pulivarthi H. , Harris Charles P. , Yan Lu Xin , Nan Li Xiao‐ , Mok Samuel C. , Lau Ching C. 
Published: August 2002

AbstractWe applied multicolor spectral karyotyping (SKY) to decipher the chromosomal complexity of a panel of seven cell lines and four primary tumors derived from patients with high‐grade serous adenocarcinoma of the ovary. By this method we identified a total of 188 unbalanced translocations, nine reciprocal translocations [t(2;15)(q13;q23), t(7;17) (q32;q21), t(8;22)(p11;q11), t(8;22) (q24;q13), t(10;19) (q24;q13.2), t(11;19) (q13;p11), t(12;21)(q13;q22),t(18;20) (q?11;q?11), t(18;22)(q?11;q?13)], 6 isochromosomes [i(1q), i(7q), i(8q), i(9p), i(17q), i(21q)], and 23 deletions. By detailed mapping of rearrangement breakpoints, it was possible to identify several recurring breakpoint clusters at chromosomal bands 1p36, 2p11, 2p23, 3p21, 3q21, 4p11, 6q11, 8p11, 9q34, 10p11, 11p11, 11q13, 12p13, 12q13, 17q21, 18p11, 18q11, 20q11, and 21q22. Recurrent interstitial deletion of chromosomal bands 8p11, 11p11, and 12q13 and a recurrent unbalanced translocation—der(6)t(6;8)(q11;q11)—were also identified. In addition, a homogeneously staining region localized in one cell line to 11q13 was found using SKY to be derived from genetic material originating from chromosome 12. Subsequent comparative genomic hybridization (CGH) studies on this tumor revealed the amplification of DNA sequences derived from the short arm of chromosome 12 at the 12p11.2 region. These studies demonstrate the power of SKY, CGH, and G‐banding to resolve the full spectrum of chromosomal rearrangements in serous ovarian adenocarcinoma. © 2002 Wiley‐Liss, Inc.
Cell‐specific transgene expression from a widely transcribed promoter using Cre/lox in mice
Authors: Grippo Paul J. , Nowlin Patrick S. , Cassaday Ryan D. , Sandgren Eric P. 
Published: August 2002

AbstractSummary: Mice carrying two or more transgenes are used frequently to evaluate oncogene interactions during carcinogenesis. However, neoplastic transformation typically results in reduced expression both of differentiation‐specific genes and of transgenes that use their promoters. In contrast, the more widely expressed metallothionein (MT) gene remains expressed at a high level in certain neoplasms, including those developing in pancreas. We have developed a system to maintain high‐level, tissue‐specific transgene expression during pancreatic carcinogenesis that uses Cre recombinase and a lox site‐containing target transgene. Cre was expressed in pancreatic acinar cells under control of the elastase promoter (EL). Cre‐mediated target transgene recombination placed a previously silent open‐reading frame, encoding rat transforming growth factor alpha (TGFα), under control of the MT gene promoter. As long as DNA rearrangement does not occur in other cell types that express MT, TGFα expression will be restricted to acinar cells. Development of an effective target transgenic mouse required evaluation of multiple lineages to identify one with sufficient TGFα expression to induce pancreatic lesions after transgene rearrangement. genesis 32:277–286, 2002. © 2002 Wiley‐Liss, Inc.
Comparison of morpholino based translational inhibition during the development of Xenopus laevis and Xenopus tropicalis
Authors: Nutt Stephen L. , Bronchain Odile J. , Hartley Katharine O. , Amaya Enrique 
Published: August 2002

AbstractSummary: Morpholino (MO) based inhibition of translational initiation represents an attractive methodology to eliminate gene function during Xenopus development (Heasman et al., 2000). However, the degree to which a given target protein can be eliminated and the longevity of this effect during embryogenesis has not been documented. To examine the efficacy of MOs, we have used transgenic Xenopus lines that harbour known numbers of integrations of a GFP reporter under the control of the ubiquitous and highly expressed CMV promoter (Fig. 1a). In addition we have investigated the longevity of the inhibitory effect by using transgenic lines expressing GFP specifically in the lens of tadpoles. These transgenic lines represent the ideal control for the technique as the promoters are highly expressed and GFP can be easily detected by fluorescence and immunoblotting. Moreover, as GFP has no function in development, the levels of inhibition can be tested in an otherwise normal individual. Here we report that MOs are able to efficiently and specifically inhibit the translation of GFP in transgenic lines from Xenopus laevis and Xenopus tropicalis and the inhibitory effect is long‐lived, lasting into the tadpole stages. genesis 30:110–113, 2001. © 2001 Wiley‐Liss, Inc.
A Bayesian partition model for case‐control studies on highly polymorphic candidate genes
Authors: Seaman S.R. , Richardson S. , Stücker I. , Benhamou S. 
Published: August 2002

AbstractWe present a new statistical model for the analysis of case‐control or cohort studies examining a highly polymorphic candidate disease susceptibility gene. Many genotypes are possible for such a gene. Consequently, the average number of subjects having each genotype will be modest. If analyzed separately, the risks associated with most genotypes will be estimated imprecisely. Our Bayesian partition model clusters genotypes according to risk, only allowing partitions that satisfy a particular assumption about the joint effect of the two alleles making up a genotype. This assumption is genetically plausible, imposes structure on the set of genotype risks, and still leaves a highly flexible model. By Bayesian model averaging over partitions, the model becomes, in effect, a semiparametric model for genotype risk. It allows borrowing of strength, i.e., estimates of risk for one genotype are informed by the risk estimates of all the genotypes. We present the results of fitting the model to two datasets, one simulated and one genuine case‐control study of the NAT1 gene and lung cancer, and compare it in a simulation study with a haplotype relative risk model. The partition model enables genotype risks to be estimated more accurately and the alleles to be ranked according to risk. Genet. Epidemiol. 22:356–368, 2002. © 2002 Wiley‐Liss, Inc.
The Cretaceous volcanic succession around the Songliao Basin, NE China: relationship between volcanism and sedimentation
Authors: Wang Pujun , Ren Yanguang , Shan Xuanlong , Sun Shaobo , Wan Chuanbiao , Bian Weihua 
Published: August 2002

AbstractWith volume ratio of 8:1:1.5 amongst acidic, intermediate and basaltic rocks, the Cretaceous volcanics around the Songliao Basin are a series of high‐K or medium‐K, peraluminous or metaluminous, calc‐alkaline rocks, lacking typical basalts and peralkaline members of typical rift‐related types. Their eruption ages range between 133 and 127 Ma, 124 and 122 Ma and 117 and 113 Ma respectively. They are high in total (Rare earth element) REE contents (96.1–326 ppm), enriched in LREE and depleted in HREE (LREE/HREE = 4.6–13.8), with negative Eu and Ce anomalies (Eu/Eu* = 0.04–0.88; Ce/Ce* = 0.60–0.97). They have enriched large‐ion lithophile elements (e.g. K, Ba, Th) and depleted high field strength elements (e.g. Nb, Ti and Y), suggesting a subduction‐related tectonic setting. The volcanic activities migrated from south to north, forming a successively northward‐stepping volcanic series and showing a feature significantly different from the overlying sedimentary sequence striking northeast. Thus, an overlap basin model was proposed. Accompanied by opening of the basin, the volcanogenic succession was formed at the block‐faulting stage (131–113 Ma) owing to the closure of the Mongolia–Okhotsk ocean in the Jurassic and early Cretaceous, while the overlying sedimentary sequence was unconformably deposited at the spreading stage (Albian–Maastrichtian) owing to the oblique subduction of the Pacific plate under the Eurasian plate. The volcanic succession constitutes the lower unit of basin filling and is the forerunner of further basin spreading. Copyright © 2002 John Wiley & Sons, Ltd.
Expression and distribution of id helix‐loop‐helix proteins in human astrocytic tumors
Authors: Vandeputte Dmitri A.A. , Troost Dirk , Leenstra Sieger , Ijlst‐Keizers Helen , Ramkema Marja , Bosch D. Andries , Baas Frank , Das Nab K. , Aronica Eleonora 
Published: August 2002

AbstractThe Id family of helix‐loop‐helix proteins is involved in a variety of processes, such as development, proliferation, and angiogenesis. In this study, we investigated the expression pattern of Id1, Id2, and Id3 in surgical specimens of human glial tumors. Western blot analysis demonstrated that all three Id proteins were expressed in astrocytic tumors. Expression levels in high‐grade tumors were higher than in low‐grade tumors. Immunohistochemical analysis confirmed that many of the tumor astrocytes exhibited strong Id1‐3 IR. In contrast, in adult human normal brain, Id expression was low both in resting astrocytes and in endothelial cells. In tumor cells, Id proteins displayed cytoplasmic as well as nuclear localization. Id1‐3 IR scores in tumor cells were positively correlated with proliferation indices. Moreover, Id1‐3 IR was detected in endothelial cells of the astrocytic tumor blood vessels. The vascular Id1‐3 expression correlated positively with tumor vascularity and grade. These results support the role of the Id gene family in the enhanced proliferative potential of tumor astrocytes. The evidence also supports the involvement of the Id gene family in tumor angiogenesis, a process that critically influences the malignant behavior of glial tumors. GLIA 38:329–338, 2002. © 2002 Wiley‐Liss, Inc.
Role of the astrocytic ETB receptor in the regulation of extracellular endothelin‐1 during hypoxia
Authors: Hasselblatt Martin , Lewczuk Piotr , Löffler Bernd‐Michael , Kamrowski‐Kruck Heike , Von Ahsen Nicolas , Sirén Anna‐Leena , Ehrenreich Hannelore 
Published: August 2002

AbstractAstrocytes are known to possess an effective endothelin (ET) eliminatory system which involves astrocytic ETA and ETB receptors and may become particularly relevant under pathophysiological conditions. The present study has therefore been designed to explore the effect of standardized hypoxia on extracellular concentrations of endothelin‐1 (ET‐1) and on endothelin‐converting enzyme (ECE) activity in primary rat astrocytes genetically (sl/sl) or experimentally (dexamethasone) deficient in ETB receptors. The results revealed (1) a hypoxia‐mediated decrease of extracellular ET‐1 in wildtype astrocytes (+/+) that was not observed in ETB‐deficient (sl/sl) cultures; (2) an ET receptor antagonist‐induced increase in ET‐1 in the media of both genotypes with further elevation upon hypoxia in +/+ cultures only; (3) augmentation of the dexamethasone‐induced increase in extracellular ET‐1 by hypoxia in +/+, but not in sl/sl cultures; (4) synergistic reduction of ETB gene transcription by hypoxia and dexamethasone; and (5) significant increases in endothelin‐converting enzyme activity in the presence of hypoxia. To conclude, hypoxia stimulates astrocytic release of mature ET‐1. This stimulation is (over)compensated for by increased ET‐1 binding to functional ETB receptors. ETB deficiency, whether genetic or experimentally induced, impairs elimination of extracellular ET‐1. GLIA 34:18–26, 2001. © 2001 Wiley‐Liss, Inc.
Upregulation of transcription factors controlling MHC expression in multiple sclerosis lesions
Authors: Gobin Sam J.P. , Montagne Lisette , Van Zutphen Marlijn , Van Der Valk Paul , Van Den Elsen Peter J. , De Groot Corline J.A. 
Published: August 2002

AbstractThe expression of major histocompatibility complex (MHC) class I and class II in the CNS has received considerable interest because of its importance in neurodegenerative or inflammatory diseases, such as multiple sclerosis (MS). However, at the moment nothing is known about the expression patterns of transcription factors controlling MHC expression in MS lesions. Here, we performed an extensive immunohistochemical analysis on MS affected postmortem brain tissue to determine the cellular localization and distribution of different MHC‐controlling transcription factors. We show that phagocytic macrophages in active demyelinating MS lesions displayed a moderate to strong immunostaining of the MHC‐specific transcription factors RFX and CIITA, as well as the general transcription factors NF‐κB, IRF1, STAT1, USF, and CREB, which was congruent with a strongly enhanced expression of HLA‐DR, HLA‐DQ, HLA‐DP, and HLA class I. In the normal‐appearing white matter (NAWM), clusters of activated microglial cells forming preactive lesions displayed an overall stronger expression level of these transcription factors, combined with a strong to intense level of MHC class I and class II immunostaining. In general, astrocytes and oligodendrocytes either did not express, or weakly expressed, these transcription factors, correlating with a lack of MHC class II and weak MHC class I expression. Together, the elevated expression level of transcription factors governing expression of MHC class I and class II molecules in activated microglial cells and phagocytic macrophages strongly suggests a general state of microglial cell activation in MS lesions. GLIA 36:68–77, 2001. © 2001 Wiley‐Liss, Inc.
Depressive symptoms among cognitively normal versus cognitively impaired elderly subjects
Authors: Li Yan‐sheng , Meyer John S. , Thornby John 
Published: August 2002

AbstractObjectivesThe present cross‐sectional study analyzed the prevalence and severity of depressive symptoms among patients with Alzheimer's disease (DAT), vascular dementia (VAD), and among the cognitively normal elderly. Putative risk factors contributing to depression were likewise evaluated.MethodsSeventy‐six DAT patients, 51 VAD patients, and 121 cognitively normal subjects were admitted to the study. Questionnaires concerning demography and their vascular and familial risk factors together with results of neuropsychological testing by combined Mini‐Mental Status Examinations (MMSE), Cognitive Capacity Screening Examinations (CCSE), and Hamilton Depression Rating Scales (HDRS) were obtained so that resulting data would be statistically analyzed.ResultsPrevalence of depressive symptoms among VAD, DAT, and cognitively normal elderly were 31.4%, 19.9%, and 13.2%, respectively. 25.5% of VAD and 13.2% of DAT patients had depression of mild to moderate degrees. Regression analysis revealed that diagnosis of VAD and DAT, heart disease, and past history of depression was significantly associated with high HDRS scores. There was no correlation between degree of depression and severity of cognitive impairments.ConclusionMild to moderate depression is a common comorbidity with organic dementia, especially VAD, but associated depression is independent of severity of cognitive impairments. Copyright © 2001 John Wiley & Sons, Ltd
Human brain oscillatory activity phase‐locked to painful electrical stimulations: A multi‐channel EEG study
Authors: Babiloni Claudio , Babiloni Fabio , Carducci Filippo , Cincotti Febo , Rosciarelli Fabrizio , Arendt‐Nielsen Lars , Chen Andrew C.N. , Rossini Paolo Maria 
Published: August 2002

AbstractThe main aims of this study were 1) a fine spatial analysis of electroencephalographic (EEG) oscillations after galvanic painful stimulation (nonpainful stimulation as a reference) and 2) a comparative evaluation of phase‐ and nonphase‐locked component of these EEG oscillations. Preliminary surface Laplacian transformation of EEG data (31 channels) reduced head volume conductor effects. EEG phase values were computed by FFT analysis and the statistical evaluation of these values was performed by Rayleigh test (P < 0.05). About 50% of the EEG single trials presented statistically the same FFT phase value of the evoked EEG oscillations (phase‐locked single trials), indicating a preponderant phase‐locked compared to nonphase‐locked component. The remaining single trials showed random FFT phase values (nonphase‐locked single trials), indicating a preponderant nonphase‐locked compared to phase‐locked component. Compared to nonpainful stimulation, painful stimulation increased phase‐locked theta to gamma band responses in the contralateral hemisphere and decreased the phase‐locked beta band response in the ipsilateral hemisphere. Furthermore, nonphase‐locked alpha band response decreased in the ipsilateral fronto‐central area. In conclusion, both decreased and increased EEG oscillatory responses to galvanic painful stimulation would occur in parallel in different cortical regions and in the phase‐ and nonphase‐locked EEG data sets. This enriches the actual debate on the mapping of event‐related oscillatory activity of human brain. Hum. Brain Mapping 15:112–123, 2002. © 2002 Wiley‐Liss, Inc.
Functional neuroanatomy of visuo‐spatial working memory in turner syndrome
Authors: Haberecht Michael F. , Menon Vinod , Warsofsky Ilana S. , White Christopher D. , Dyer‐Friedman Jenny , Glover Gary H. , Neely E. Kirk , Reiss Allan L. 
Published: August 2002

AbstractTurner syndrome (TS), a genetic disorder characterized by the absence of an X chromosome in females, has been associated with cognitive and visuo‐spatial processing impairments. We utilized functional MRI (fMRI) to investigate the neural substrates that underlie observed deficits in executive functioning and visuo‐spatial processing. Eleven females with TS and 14 typically developing females (ages 7–20) underwent fMRI scanning while performing 1‐back and 2‐back versions of a standard visuo‐spatial working memory (WM) task. On both tasks, TS subjects performed worse than control subjects. Compared with controls, TS subjects showed increased activation in the left and right supramarginal gyrus (SMG) during the 1‐back task and decreased activation in these regions during the 2‐back task. In addition, decreased activation in the left and right dorsolateral prefrontal cortex (DLPFC) and caudate nucleus was observed during the 2‐back task in TS subjects. Activation differences localized to the SMG, in the inferior parietal lobe, may reflect deficits in visuo‐spatial encoding and WM storage mechanisms in TS. In addition, deficits in the DLPFC and caudate may be related to deficits in executive function during WM performance. Together these findings point to deficits in frontal‐striatal and frontal‐parietal circuits subserving multiple WM functions in TS. Hum. Brain Mapping 14:96–107, 2001. © 2001 Wiley‐Liss, Inc.