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Nostrati Adi A Dermatology Service, Veterans Affairs Medical Center, San Francisco, - - 2014
Melanoma outcomes differ between men and women even when adjusted for prognostic factors such as age, Breslow thickness, body site, ulceration, lymph node dissection, and for treatment, with men having poorer outcomes compared to women. The mechanisms underlying this disparity are not well understood. Behavioral differences between the sexes such ...
Marzio Antonio A Istituto Pasteur-Fondazione Cenci Bolognetti and Istituto di Biologia e Patologia Molecolari (IBPM) del CNR, Dipartimento di Biologia e Biotecnologie "C. Darwin", Sapienza, Università di Roma, Roma, - - 2014
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, has been implicated in preventing human pathologies, such as diabetes and cancer. However, the mechanisms underlying the beneficial effects of PLP are still unclear. Using Drosophila as a model system, we show that PLP deficiency, caused either by mutations in the ...
Hanada Hideki - - 2012
Pro-oxidative effect of phenolic antioxidant (vitamin E) in combination with the initiators on human low-density lipoprotein is known. Recently I reported that oxidative stress induced by vitamin E in combination with the herbicide paraquat enhances structural chromosomal damage in cultured anuran leukocytes. In the present study, the phenolic antioxidant vitamin ...
Kirnap Mehmet - - 2012
An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low ...
Marcelain Katherine K Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile. - - 2012
Ski is a transcriptional regulator that has been considered an oncoprotein given its ability to induce oncogenic transformation in avian model systems. However, studies in mouse and in some human tumor cells have also indicated a tumor suppressor activity for this protein. We found that Ski-/- mouse embryo fibroblasts exhibit ...
Suvorova Elena S ES Department of Molecular Medicine, University of South Florida, Tampa, FL 33612, United - - 2012
Apicomplexa parasites use complex cell cycles to replicate that are not well understood mechanistically. We have established a robust forward genetic strategy to identify the essential components of parasite cell division. Here we describe a novel temperature sensitive Toxoplasma strain, mutant 13-20C2, which growth arrests due to a defect in ...
Unckless Robert L - - 2011
Endosymbionts infect most arthropods and cause a wide variety of phenotypes in their hosts, ranging from obligate mutualists to reproductive parasites. One of the most dramatic forms of reproductive parasitism is male-killing which involves the endosymbiont killing all of the sons of infected females. A phenotype with such a dramatic ...
Saihan Zubin Z Institute of Ophthalmology, UCL, London, UK. - - 2011
To determine the molecular cause of sector retinitis pigmentosa and hearing loss in two affected siblings. Direct DNA sequencing of the USH1C gene was performed in two affected siblings. Putative pathogenic sequence changes were assayed in their parent's chromosomes and in control chromosomes. Clinical examination included visual acuity measurement, visual ...
Marques Ester Augusta Lima Vinhas - - 2011
Translocations involving chromosome 11q23 are frequently found in pediatric leukemia, especially in infants. The mixed lineage leukemia (MLL)-AF4 fusion/t(4;11) is mostly found in acute lymphoblastic leukemia (ALL) and MLL-AF9 fusion/t(9;11) in acute myeloid leukemia (AML). We study 441 consecutive new cases of childhood leukemia diagnosed in Brazil. Chromosomal translocation was ...
Weakley Sarah M SM Molecular Surgeon Research Center, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, One Baylor Plaza, Mail stop: BCM391, Houston, TX 77030, - - 2011
X inactive-specific transcript (XIST) RNA is involved in X chromosome silencing in female cells and allows X chromosome equilibration with males. X inactive-specific transcript expression has been found to be dysregulated in a variety of human cancers when compared to normal cells; meanwhile, the inactivated X chromosome has been noted ...
Babbs Christian - - 2011
Familial hypertelorism, characterized by widely spaced eyes, classically shows autosomal dominant inheritance (Teebi type), but some pedigrees are compatible with X-linkage. No mechanism has been described previously, but clinical similarity has been noted to craniofrontonasal syndrome (CFNS), which is caused by mutations in the X-linked EFNB1 gene. Here we report ...
- - 2011
Cover: Cover shows a mosaic calico cat illustrating X-chromosome inactivation. See Mini-Review in this issue, by Kalantry, pages 1714-1718.
Zhai Lei - - 2011
Condensin, a major non-histone protein complex on chromosomes, is responsible for the formation of rod-shaped chromosome in mitosis. A heterodimer composed of SMC2 (structural maintenance of chromosomes) and SMC4 subunits constitutes the core part of condensin. Although extensive studies have been done in yeast, fruit fly and Xenopus to uncover ...
Kalantry Sundeep S Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-5618, USA. - - 2011
X-chromosome inactivation is a paradigmatic epigenetic phenomenon that results in the mitotically heritable transcriptional inactivation of one X-chromosome in female mammals, thereby equalizing X-linked gene dosage between the sexes. The epigenetic factors and mechanisms that execute X-inactivation overlap with those that regulate embryonic development and disease progression, thus offering a ...
Li Jian - - 2011
Plasmodium yoelii is an excellent model for studying malaria pathogenesis that is often intractable to investigate using human parasites; however, genetic studies of the parasite have been hindered by lack of genome-wide linkage resources. Here, we performed 14 genetic crosses between three pairs of P. yoelii clones/subspecies, isolated 75 independent ...
Hached Khaled - - 2011
In female meiosis, chromosome missegregations lead to the generation of aneuploid oocytes and can cause the development of trisomies or infertility. Because mammalian female meiosis I is error prone, the full functionality of control mechanisms, such as the spindle assembly checkpoint (SAC), has been put into question. The SAC monitors ...
Wheatley Sally P - - 2011
New evidence from three separate laboratories, published recently in Science, has shown that centromere positioning of the CPC (chromosomal passenger complex) during early mitosis is achieved through direct interaction between the CPP (chromosomal passenger protein) survivin and histone H3. In essence, an acidic pocket in the BIR (baculovirus inhibitor of ...
Cajaiba Mariana M - - 2011
Polyomavirus BK (BKV) is a widely latent pathogen in man. Although viral reactivation during pregnancy has been demonstrated, and polyomaviruses have been linked to chromosomal abnormalities, a pathogenic role for BKV in fetoplacental disease has not been explored. We performed in situ hybridization studies with BKV probes on cases of ...
Khan Kamron - - 2011
To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous. An ophthalmic examination was performed on each family member to establish the diagnosis. The two largest families were analyzed by homozygosity mapping using ...
Moralli Daniela D Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN, Oxford, - - 2011
Prolonged in vitro culture of human embryonic stem (hES) cells can result in chromosomal abnormalities believed to confer a selective advantage. This potential occurrence has crucial implications for the appropriate use of hES cells for research and therapeutic purposes. In view of this, time-point karyotypic evaluation to assess genetic stability ...
Bakry Fayez A - - 2011
The karyotypes of Biomphalaria alexandrina and Bulinus truncatus were analyzed comparatively and classified on the basis of centromere position. The two species have the same diploid chromosome number, 2n=36. The mitotic chromosomes of B. alexandrina are organized in three groups and consist of 8 metacentric pairs, 8 submetacentric pairs and ...
Eastman Richard T - - 2011
The combination of piperaquine and dihydroartemisinin has recently become the official first-line therapy in several Southeast Asian countries. The pharmacokinetic mismatching of these drugs, whose plasma half-lives are ~20 days and ~1 h, respectively, implies that recrudescent or new infections emerging shortly after treatment cessation will encounter piperaquine as a ...
Beklemisheva Violetta R - - 2011
Glires represent a eutherian clade consisting of rodents and lagomorphs (hares, rabbits, and pikas). Chromosome evolution of Glires is known to have variable rates in different groups: from slowly evolving lagomorphs and squirrels to extremely rapidly evolving muroids. Previous interordinal homology maps between slowly evolving Glires were based on comparison ...
Gao Yun-Dong - - 2011
In this paper, karyotype data of the tribe Lilieae in China were analyzed and been superimposed onto a phylogenetic framework constructed by the internal transcribed spacer to investigate the karyotype evolution. Ten parameters for analyzing karyotype asymmetry were assessed and karyotypic idiogram of five genera of Lilieae were illustrated. The ...
Badaeva Ekaterina D - - 2011
The genetic classification for the N-genome chromosomes has been developed on the basis of C-banding analysis on the set of Triticum aestivum × Aegilops uniaristata single chromosome addition lines and examination of A. uniaristata ([Formula: see text], NN), Aegilops ventricosa ([Formula: see text], DDNN) and Aegilops recta ([Formula: see text], ...
Skovgaard Ole - - 2011
Whole-genome sequencing (WGS) with new short-read sequencing technologies has recently been applied for genome-wide identification of mutations. Genomic rearrangements have, however, often remained undetected by WGS, and additional analyses are required for their detection. Here, we have applied a combination of WGS and genome copy number analysis, for the identification ...
Dupont Céline - - 2011
ICF (Immunodeficiency, centromeric region instability, facial anomalies) syndrome is a rare autosomal recessive disorder characterised by severe immunodeficiency, craniofacial anomalies and chromosome instability. Chromosome analyses from blood samples show a high frequency of decondensation of pericentromeric heterochromatin and rearrangements involving chromosomes 1 and 16. It is the first, and as ...
ZaleĊ›na A - - 2011
The Western Palearctic water frogs Pelophylax ridibundus and P. lessonae were identified as parental (sexual) species and P. esculentus as their interspecific, hybridogenetically reproducing hybrid with hemiclonal heredity. We used genomic in situ hybridization (GISH) to identify parental chromosomes of P.lessonae and P.ridibundus in diploid P. esculentus karyotypes (2n = ...
Evans E - - 2011
Chinese hamster ovary-human hybrid cells containing chromosomes 16, 18, X, or 21 have been used to test the ability of human kinetochores to successfully bind to spindle microtubules and to be distributed to daughter cells. The intrinsic rates of non-disjunction among these human chromosomes have been determined and compared to ...
Yang Christine - - 2011
X-chromosome inactivation is an epigenetic process whereby one X chromosome is silenced in mammalian female cells. Since it was first proposed by Lyon in 1961, mouse models have been valuable tools to uncover the molecular mechanisms underlying X inactivation. However, there are also inherent differences between mouse and human X ...
Iovene Marina - - 2011
The cytogenetic characterization of the carrot genome (Daucus carota L., 2n = 18) has been limited so far, partly because of its somatic chromosome morphology and scant of chromosome markers. Here, we integrate the carrot linkage groups with pachytene chromosomes by fluorescent in situ hybridization (FISH) mapping genetically anchored bacterial artificial chromosomes ...
Stephan Anna K - - 2011
There exist three highly-conserved structural maintenance of chromosomes (Smc) complexes that ensure genome stability during eukaryotic cell division. There are the well-characterized cohesin and condensin complexes and the third Smc complex, Smc5/6. Nse2/Mms21, a SUMO ligase, is a component of the Smc5/6 complex and recent data have indicated that Nse1 ...
Park Mi-Ryung - - 2011
Although it is known that the tetraploid embryo contributes only to the placenta, the question of why tetraploid embryos differentiate into placenta remains unclear. To study the effect of electrofusion on the development of mouse tetraploid oocytes, mouse two-cell embryos were fused and cultured in vitro in Chatot-Ziomek-Bavister medium. After ...
Gunnarsson Rebeqa - - 2011
High-resolution genomic microarrays enable simultaneous detection of copy-number aberrations such as the known recurrent aberrations in chronic lymphocytic leukemia [del(11q), del(13q), del(17p) and trisomy 12], and copy-number neutral loss of heterozygosity. Moreover, comparison of genomic profiles from sequential patients' samples allows detection of clonal evolution. We screened samples from 369 ...
Navarro Pablo - - 2011
X-inactivation, the molecular mechanism enabling dosage compensation in mammals, is tightly controlled during mouse early embryogenesis. In the morula, X-inactivation is imprinted with exclusive silencing of the paternally inherited X-chromosome. In contrast, in the post-implantation epiblast, X-inactivation affects randomly either the paternal or the maternal X-chromosome. The transition from imprinted ...
Burrack Laura S LS Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455, - - 2011
The Dam1 complex attaches the kinetochore to spindle microtubules and is a processivity factor in vitro. In Saccharomyces cerevisiae, which has point centromeres that attach to a single microtubule, deletion of any Dam1 complex member results in chromosome segregation failures and cell death. In Schizosaccharomyces pombe, which has epigenetically defined ...
Dumitrache Lavinia C LC Department of Molecular Medicine/Institute of Biotechnology, University of Texas Health Science Center, San Antonio, Texas 78245-3207, - - 2011
Trex2 is a 3' → 5' exonuclease that removes 3'-mismatched sequences in a biochemical assay; however, its biological function remains unclear. To address biology we previously generated trex2(null) mouse embryonic stem (ES) cells and expressed in these cells wild-type human TREX2 cDNA (Trex2(hTX2)) or cDNA with a single-amino-acid change in ...
Marttala Jaana - - 2011
Objective. To examine the performance of first trimester combined screening after adding the specific algorithms for trisomies 18 and 13 in the Down's syndrome screening program for chromosomal abnormalities other than trisomy 21 and to determine the outcomes of such pregnancies. Design. A retrospective study. Setting. Oulu University Hospital, Finland. ...
Broughton Richard E - - 2011
Hybridization is common among freshwater fishes, particular among the Cyprinidae. We used two mitochondrial genes and one nuclear gene to characterize hybridization among two species pairs of Cyprinella in southwestern North America. Genalogical patterns revealed that C. lutrensis and C. venusta are currently hybridizing in several localities producing apparent F(1), ...
Jakovski Zlatko - - 2011
The population data were obtained for the 16 Y chromosomal STR loci included in the AmpFistr(®)Yfiler™ PCR Amplification Kit (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385 a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA H4, DYS437, DYS438, DYS448) in a sample of 262 unrelated men from the Republic of Macedonia.
Bisso-Machado Rafael - - 2011
Objectives: This investigation was performed to identify and evaluate the distribution of all 15 Y-chromosome lineages belonging to the Q clade in a sample of natives from South America. Methods: One hundred and forty-eight individuals from 20 Native American populations, as well as 24 Asian samples including Eskimos, were tested ...
Heckmann S - - 2011
The structure of holocentric chromosomes was analyzed in mitotic cells of Luzula elegans. Light and scanning electron microscopy observations provided evidence for the existence of a longitudinal groove along each sister chromatid. The centromere-specific histone H3 variant, CENH3, colocalized with this groove and with microtubule attachment sites. The terminal chromosomal ...
Nakazawa Norihiko - - 2011
Condensin is a conserved protein complex that functions in chromosome condensation and segregation. It has not been previously unequivocally determined whether condensin is required throughout mitosis. Here, we examined whether Schizosaccharomyces pombe condensin continuously acts on chromosomes during mitosis and compared its role with that of DNA topoisomerase II (Top2). ...
Goyama Susumu - - 2011
Core binding factor (CBF) acute myeloid leukemia (AML) is the most common cytogenetic subtype of AML, defined by the presence of t(8;21) or inv(16)/t(16;16). The chromosomal aberrations create AML1-ETO and CBFβ-MYH11 fusion genes that disrupt the functions of CBF, an essential transcription factor in hematopoiesis. Despite the relatively good outcome ...
Cortés-Gutiérrez Elva I - - 2011
The comet assay is a well-established, simple, versatile, visual, rapid, and sensitive tool used extensively to assess DNA damage and DNA repair quantitatively and qualitatively in single cells. The comet assay is most frequently used to analyze white blood cells or lymphocytes in human biomonitoring studies, although other cell types ...
Kahyo T - - 2011
Mitosis is the most conspicuous cell cycle phase, because it is the phase in which the dynamic physical distributions of cellular components into the two daughter cells occur. The separation of sister chromatids is especially important during mitosis, because of the extreme accuracy required for distribution to the next generation ...
Escribá M Carmen - - 2011
Sciara coprophila (Diptera, Nematocera) constitutes a classic model to analyze unusual chromosome behavior such as the somatic elimination of paternal X chromosomes, the elimination of the whole paternal, plus non-disjunction of the maternal X chromosome at male meiosis. The molecular organization of the heterochromatin in S. coprophila is mostly unknown ...
Miyazaki Takaaki - - 2011
The ribosomal RNA (rRNA) gene forms an extremely large repeat (rDNA) in the chromosome. In budding yeast, Saccharomyces cerevisiae, the rDNA is located on chromosome XII and occupies approximately 60% (1.5 Mb) of the chromosome and 10% of the total genome. The rDNA is composed of approximately 150 copies and produces ...
Funasaka Tatsuyoshi - - 2011
Chromosomal translocations involving chimeric fusions of the nucleoporin NUP98 protein have often been described in acute myelogenous leukemia (AML). All the fusion proteins have an identical NUP98 N terminus, which contains the GLEBS motif for interaction with the mRNA export factor RAE1 and FG repeats that associate with the transcription ...
Macholán Miloš - - 2011
Multilocus hybrid zone (HZ) studies predate genomics by decades. The power of early methods is becoming apparent and now large datasets are commonplace. Relating introgression along a chromosome to evolutionary process is challenging: although reduced introgression regions may indicate speciation genes, this pattern may be obscured by asymmetric introgression of ...
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