Epigenetic regulation of telomere maintenance.

abstract：:Breast cancer is a complex and heterogeneous disease, and the establishment of cell models in order to properly study the disease at the molecular and cellular level is of utmost importance. Here, we present the cytogenetic characterization and gene expression analysis of the tumoral mammary rat cell line CLS-ACI-1. T...

journal_title：Cytogenetic and genome research

authors： Meles S,Adega F,Castro J,Chaves R

更新日期：2015-01-01 00:00:00

abstract：:We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abo...

journal_title：Cytogenetic and genome research

authors： Chen-Shtoyerman R,Josefsberg Ben-Yehoshua S,Nissani R,Rosensaft J,Appelman Z

更新日期：2012-01-01 00:00:00

abstract：:Homologous chromosome pairing and recombination are essential components of meiosis and sexual reproduction. The reshuffling of genetic material through breakage and reunion of chromatids ensure proper segregation of homologous chromosomes in reduction division and genetic diversity in the progeny. The advent of somat...

journal_title：Cytogenetic and genome research

authors： Hart EJ,Pinton A,Powell A,Wall R,King WA

更新日期：2008-01-01 00:00:00

abstract：:Genets (Genetta) are a genus of African mammalian carnivorans with 14 currently recognized species, although taxonomic uncertainties remain, particularly regarding the number of species within the large-spotted genet complex. This study presents the first banded karyotype and molecular cytogenetic analysis of a geneti...

journal_title：Cytogenetic and genome research

authors： Matoso Silva R,Adega F,Kjöllerström HJ,Labuschagne K,Kotze A,Fernandes C,Chaves R,do Mar Oom M

更新日期：2016-01-01 00:00:00

abstract：:The formation of heterochromatin begins in the differentiating cells. The aim of this work was to study changes of satellite DNA distribution, transcriptional activity and interaction with certain proteins in mouse embryonic stem cells after induction with retinoic acid. We found that pericentromeric satellites entere...

journal_title：Cytogenetic and genome research

authors： Enukashvily NI,Malashicheva AB,Waisertreiger IS

更新日期：2009-01-01 00:00:00

abstract：:In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive ...

journal_title：Cytogenetic and genome research

authors： Soler A,Morales C,Mademont-Soler I,Margarit E,Borrell A,Borobio V,Muñoz M,Sánchez A

更新日期：2017-01-01 00:00:00

abstract：:A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional ...

journal_title：Cytogenetic and genome research

authors： Camerota L,Pitzianti M,Postorivo D,Nardone AM,Ligas C,Moretti C,Pasini A,Brancati F

更新日期：2017-01-01 00:00:00

abstract：:Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 and RUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-...

journal_title：Cytogenetic and genome research

authors： Abe A,Yamamoto Y,Katsumi A,Yamamoto H,Okamoto A,Inaguma Y,Iriyama C,Tokuda M,Okamoto M,Emi N,Tomita A

更新日期：2020-01-01 00:00:00

abstract：:1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 delet...

journal_title：Cytogenetic and genome research

authors： Lloveras E,Canellas A,Barranco L,Alves C,Vila-Real M,Ventura V,Fernández D,Mendez B,Piqué M,Reis-Lima M,de la Iglesia C,Palau N,Costa M,Yeste D,Auge M,Perez C

更新日期：2019-01-01 00:00:00

abstract：:Previous genetic mapping identified three linkage groups (M1, M18 and M26) in the turkey corresponding to chicken chromosome 1 (GGA1). This is inconsistent with previously described chromosomal differences between these species. FISH analysis of BAC clones corresponding to microsatellite markers from each of the three...

journal_title：Cytogenetic and genome research

authors： Reed KM,Sullivan LR,Foster LK,Chaves LD,Ponce de León FA

更新日期：2006-01-01 00:00:00

abstract：:To study the origin and evolution of naturally occurring polyploids, we performed phylogenetic analyses of nuclear ribosomal DNA spacers combined with molecular cytogenetics in 55 accessions of 27 taxa of the oat genus Helictochloa. A complex pattern of reticulate evolution was revealed with many diploid species and e...

journal_title：Cytogenetic and genome research

authors： Winterfeld G,Schneider J,Perner K,Röser M

更新日期：2014-01-01 00:00:00

abstract：:During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome banding techniques based on FISH have been developed for the human and for the murine genome. This review focuses on such FISH-banding techniques, which were recent...

journal_title：Cytogenetic and genome research

authors： Liehr T,Starke H,Heller A,Kosyakova N,Mrasek K,Gross M,Karst C,Steinhaeuser U,Hunstig F,Fickelscher I,Kuechler A,Trifonov V,Romanenko SA,Weise A

更新日期：2006-01-01 00:00:00

abstract：:Aegilops mutica Boiss., a diploid species (2n = 2x = 14, TT), has been rarely studied before. In this research, a hexaploid wheat (cv. Chinese Spring)-Ae. mutica partial amphiploid and a wheat-Ae. mutica addition line were characterized by chromosome karyotyping, FISH using oligonucleotides Oligo-pTa535-1, Oligo-pSc11...

journal_title：Cytogenetic and genome research

authors： Liu C,Li GR,Gong WP,Li GY,Han R,Li HS,Song JM,Liu AF,Cao XY,Chu XS,Yang ZJ,Huang CY,Zhao ZD,Liu JJ

更新日期：2015-01-01 00:00:00

abstract：:It is widely accepted that the H2AX histone in its phosphorylated form (gamma-H2AX) is related to the repair of DNA double-strand breaks (DSBs). In several organisms, gamma-H2AX presence has been demonstrated in meiotic processes such as recombination and sex chromosome inactivation during prophase I (from leptotene t...

journal_title：Cytogenetic and genome research

authors： Cabrero J,Teruel M,Carmona FD,Camacho JP

更新日期：2007-01-01 00:00:00

abstract：:Most human cancers are characterized by genomic instability. Changes associated with such may result in altered expression of numerous genes. The sequence information available in the public databases can be used to identify transcripts differentially expressed in cancers. Determining cancer-related genes that are com...

journal_title：Cytogenetic and genome research

authors： Chen S,Zhu B,Yu L

更新日期：2006-01-01 00:00:00

abstract：:A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was ...

journal_title：Cytogenetic and genome research

authors： Papoulidis I,Paspaliaris V,Papageorgiou E,Siomou E,Dagklis T,Sotiriou S,Thomaidis L,Manolakos E

更新日期：2015-01-01 00:00:00

abstract：:The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...

journal_title：Cytogenetic and genome research

authors： Perrocheau M,Boutreux V,Chadi-Taourit S,Di Meo GP,Perucatti A,Incarnato D,Cribiu EP,Guérin G,Iannuzzi L

更新日期：2005-01-01 00:00:00

abstract：:Translocations involving chromosomal region 19q13 are a frequent finding in follicular adenomas of the thyroid and might represent the most frequent type of structural aberration in human epithelial tumors. By positional cloning, a putative candidate gene, ZNF331 (formerly RITA) located close to the breakpoint was ide...

journal_title：Cytogenetic and genome research

authors： Meiboom M,Murua Escobar H,Pentimalli F,Fusco A,Belge G,Bullerdiek J

更新日期：2003-01-01 00:00:00

abstract：:In the past few years high throughput methods for assessment of DNA copy number alterations have witnessed rapid progress. Both 'in house' developed BAC, cDNA, oligonucleotide and commercial arrays are now available and widely applied in the study of the human genome, particularly in the context of disease. Cancer cel...

journal_title：Cytogenetic and genome research

authors： Michels E,Vandesompele J,Hoebeeck J,Menten B,De Preter K,Laureys G,Van Roy N,Speleman F

更新日期：2006-01-01 00:00:00

abstract：:R-banding chromosomal studies of 21 species of Lemuriformes allowed us to reconstruct the presumed ancestral karyotype of all the Lemuriformes except for Daubentoniidae and permitted the construction of their phylogenetic tree. Chromosome painting with fluorescently labeled heterologous DNA probes permitted comparativ...

journal_title：Cytogenetic and genome research

authors： Warter S,Hauwy M,Dutrillaux B,Rumpler Y

更新日期：2005-01-01 00:00:00

abstract：:The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rear...

journal_title：Cytogenetic and genome research

authors： Bonnet-Garnier A,Guardia S,Pinton A,Ducos A,Yerle M

更新日期：2009-01-01 00:00:00

abstract：:Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. ...

journal_title：Cytogenetic and genome research

authors： Torgutalp M,Durmaz CD,Karabulut HG,Seifert W,Horn D,Akkaya Z,Turgay M

更新日期：2019-01-01 00:00:00

abstract：:Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated gir...

journal_title：Cytogenetic and genome research

authors： Vozdova M,Fröhlich J,Kubickova S,Sebestova H,Rubes J

更新日期：2017-01-01 00:00:00

abstract：:ATM, the protein product of the gene mutated in the human autosomal recessive disorder ataxia telangiectasia, is involved in detection of double strand breaks (DSBs) and is a key component of the damage surveillance network of cell cycle proteins. In somatic cells ATM phosphorylates many other proteins including p53, ...

journal_title：Cytogenetic and genome research

authors： Ashley T,Westphal C,Plug-de Maggio A,de Rooij DG

更新日期：2004-01-01 00:00:00

abstract：:Only mammals have relinquished parthenogenesis as a means of producing descendants. Bi-parental reproduction is necessary due to parent-specific epigenetic modification of the genome during gametogenesis, which leads to non-equivalent expression of imprinted genes from the maternal and paternal alleles. However, a ser...

journal_title：Cytogenetic and genome research

authors： Kono T

更新日期：2006-01-01 00:00:00

abstract：:Chromatin diminution (CD) is a phenomenon of programmed DNA elimination which takes place in early embryogenesis in some eukaryotes. The mechanism and biological role of CD remain largely unknown. During CD in the freshwater copepod Cyclops kolensis, the genome of cells of the somatic lineage is reorganized and reduce...

journal_title：Cytogenetic and genome research

authors： Grishanin AK,Zagoskin MV

更新日期：2018-01-01 00:00:00

abstract：:The chromosomal band 17q21.31, containing the microtubule-associated protein tau (MAPT) gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European ancestry. The inverted configuration is linked to a distinct MAPT haplot...

journal_title：Cytogenetic and genome research

authors： Rao PN,Li W,Vissers LE,Veltman JA,Ophoff RA

更新日期：2010-01-01 00:00:00

abstract：:The chromosomes and banding patterns of Steindachneridion sp., a large catfish (Pimelodidae), endemic to the Iguaçu River, Brazil, were analyzed using conventional (C-, G-banding) and restriction enzyme banding methods. The same diploid number (2n = 56) as in other members of the genus and the family was found but the...

journal_title：Cytogenetic and genome research

authors： Swarça AC,Fenocchio AS,Cestari MM,Bertollo LA,Dias AL

更新日期：2006-01-01 00:00:00

abstract：:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation betwe...

journal_title：Cytogenetic and genome research

authors： Bellucco FT,Favilla BP,Perrone E,Melaragno MI

更新日期：2020-12-14 00:00:00

abstract：:XIST encodes a functional RNA that is expressed exclusively from the inactive X in female mammals and is required for the silencing of most of the genes on the chromosome. XIST transcripts remain in the nucleus, and their specific localization to the inactive X is important for silencing; however, it is not known how ...

journal_title：Cytogenetic and genome research

authors： Chow JC,Hall LL,Lawrence JB,Brown CJ

更新日期：2002-01-01 00:00:00