47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally.

abstract：:The X chromosomes of the extant equids, in general, share morphology and banding pattern similarities. However, the donkey X is, in part, an exception because of significantly different centromeric index and variant banding patterns in the pericentromeric region. To verify the underlying molecular basis of this differ...

journal_title：Cytogenetic and genome research

authors： Raudsepp T,Lear TL,Chowdhary BP

更新日期：2002-01-01 00:00:00

abstract：:A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the...

journal_title：Cytogenetic and genome research

authors： Thibodeau ML,Steinraths M,Brown L,Zong Z,Shomer N,Taubert S,Mungall KL,Ma YP,Mueller R,Birol I,Lehman A

更新日期：2017-01-01 00:00:00

abstract：:We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with ep...

journal_title：Cytogenetic and genome research

authors： Verrotti A,Palka C,Prezioso G,Alfonsi M,Calabrese G,Palka G,Chiarelli F

更新日期：2015-01-01 00:00:00

abstract：:Three activities hallmark meiotic cell division: homologous chromosome pairing, synapsis, and recombination. Recombination and synapsis are well-studied but homologous pairing still holds many black boxes. In the past several years, many studies in plants have yielded insights into the mechanisms of chromosome pairing...

journal_title：Cytogenetic and genome research

authors： Bozza CG,Pawlowski WP

更新日期：2008-01-01 00:00:00

abstract：:The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the co...

journal_title：Cytogenetic and genome research

authors： Boneker C,Kuiper H,Drögemüller C,Chowdhary BP,Distl O

更新日期：2006-01-01 00:00:00

abstract：:During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The ...

journal_title：Cytogenetic and genome research

authors： Kehrer-Sawatzki H,Sandig CA,Goidts V,Hameister H

更新日期：2005-01-01 00:00:00

abstract：:The Hodgkin cell line U-HO1 was established from a malignant pleural effusion of a 23-year-old male patient during the end stage of refractory nodular sclerosing classical Hodgkin lymphoma (cHL). Since its establishment in 2005, U-HO1 has maintained stable characteristics in vitro and has a doubling time of about 4 da...

journal_title：Cytogenetic and genome research

authors： Mader A,Bruderlein S,Wegener S,Melzner I,Popov S,Muller-Hermelink HK,Barth TF,Viardot A,Moller P

更新日期：2007-01-01 00:00:00

abstract：:Xenopus is an important model organism for the study of genome duplication in vertebrates. With the full genome sequence of diploid Xenopus tropicalis available, and that of allotetraploid X. laevis close to being finished, we will be able to expand our understanding of how duplicated genes have evolved. One of the ke...

journal_title：Cytogenetic and genome research

authors： Kwon T

更新日期：2015-01-01 00:00:00

abstract：:Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) b...

journal_title：Cytogenetic and genome research

authors： Gunski RJ,Kretschmer R,Santos de Souza M,de Oliveira Furo I,Barcellos SA,Costa AL,Cioffi MB,de Oliveira EHC,Del Valle Garnero A

更新日期：2019-01-01 00:00:00

abstract：:The non-random positioning of chromosome territories (CTs) in lymphocyte cell nuclei has raised the question whether systematic chromosome-chromosome associations exist which have significant influence on interchange rates. In such a case the spatial proximity of certain CTs or even of clusters of CTs is expected to i...

journal_title：Cytogenetic and genome research

authors： Kreth G,Finsterle J,Cremer C

更新日期：2004-01-01 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：:DNA methylation has been implicated in mammalian development. Transcription units contain CpG islands, but expression of CpG island associated genes in normal tissues was not believed to be controlled by DNA methylation. There are, however, numerous CpG islands containing tissue-dependent and differentially methylated...

journal_title：Cytogenetic and genome research

authors： Shiota K

更新日期：2004-01-01 00:00:00

abstract：:There is incredible morphological and behavioral diversity among the hundreds of breeds of the domestic dog, CANIS FAMILIARIS. Many of these breeds have come into existence within the last few hundred years. While there are obvious phenotypic differences among breeds, there is marked interbreed genetic homogeneity. Th...

journal_title：Cytogenetic and genome research

authors： Greer KA,Cargill EJ,Cox ML,Clark LA,Tsai KL,Credille KM,Dunstan RW,Venta PJ,Murphy KE

更新日期：2003-01-01 00:00:00

abstract：:A hitherto undescribed satellite DNA family (AvaII satDNA) has been isolated and characterised in Eumeces schneideri, a squamate reptile belonging to the family Scincidae. AvaII satDNA is characterised by a monomer length of 208 bp, a GC content of 59% and exhibits a certain degree of CpG methylation. FISH experiments...

journal_title：Cytogenetic and genome research

authors： Giovannotti M,Nisi Cerioni P,Caputo V,Olmo E

更新日期：2009-01-01 00:00:00

abstract：:Apart from a personal tragedy, could Down syndrome, cancer and infertility possibly have something in common? Are there links between a syndrome with physical and mental problems, a tumor growing out of control and the incapability to reproduce? These questions can be answered if we look at the biological functions of...

journal_title：Cytogenetic and genome research

authors： Barbero JL

更新日期：2011-01-01 00:00:00

abstract：:2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and variable intellectual def...

journal_title：Cytogenetic and genome research

authors： Mehraein Y,Pfob M,Steinlein O,Aichinger E,Eggert M,Bubendorff V,Mannhart A,Müller S

更新日期：2015-01-01 00:00:00

abstract：:We previously revealed similarity in gene expression patterns between human brain and testis, based on digital differential display analyses of 760 human Unigenes. In the present work, we reanalyzed the gene expression data in many tissues of human and mouse for a large number of genes almost covering the respective w...

journal_title：Cytogenetic and genome research

authors： Guo JH,Huang Q,Studholme DJ,Wu CQ,Zhao Z

更新日期：2005-01-01 00:00:00

abstract：:In animals, supernumerary chromosomes and their evolution have mostly been studied in sexual reproducing species. In the present study, for the first time, the natural distribution and stability of supernumerary microchromosomes were investigated in the unisexual fish species Poecilia formosa. Natural habitats through...

journal_title：Cytogenetic and genome research

authors： Lamatsch DK,Nanda I,Schlupp I,Epplen JT,Schmid M,Schartl M

更新日期：2004-01-01 00:00:00

abstract：:An integrated genetic linkage map was developed for the turkey (Meleagris gallopavo) that combines the genetic markers from the three previous mapping efforts. The UMN integrated map includes 613 loci arranged into 41 linkage groups. An additional 105 markers are tentatively placed within linkage groups based on two-p...

journal_title：Cytogenetic and genome research

authors： Reed KM,Chaves LD,Mendoza KM

更新日期：2007-01-01 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 understand the mechanisms of formation of chromosomal aberrations, studies performed on human syndromes with genomic instability can be fruitful. In this report, the results from studies in our laboratory on the importance of the transcription-coupled repair (TCR) pathway on the induction of chromosomal da...

journal_title：Cytogenetic and genome research

authors： Palitti F

更新日期：2004-01-01 00:00:00

abstract：:To investigate the karyotypic relationships between Chinese muntjac (Muntiacus reevesi), forest musk deer (Moschus berezovskii) and gayal (Bos frontalis), a complete set of Chinese muntjac chromosome-specific painting probes has been assigned to G-banded chromosomes of these three species. Sixteen autosomal probes (i....

journal_title：Cytogenetic and genome research

authors： Chi J,Fu B,Nie W,Wang J,Graphodatsky AS,Yang F

更新日期：2005-01-01 00:00:00

abstract：:In Europe, 2 different diploid chromosome numbers, 2n = 54 and 2n = 56, have been described in the lesser horseshoe bat (Rhinolophushipposideros). The eastern form with 2n = 56 extends from the Czech Republic to Greece. To date, specimens with 54 chromosomes have been reported only from Spain and Germany. This study e...

journal_title：Cytogenetic and genome research

authors： Kacprzyk J,Teeling EC,Kelleher C,Volleth M

更新日期：2016-01-01 00:00:00

abstract：:We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22...

journal_title：Cytogenetic and genome research

authors： Rivera H,Domínguez MG,Vásquez-Velásquez AI,Lurie IW

更新日期：2013-01-01 00:00:00

abstract：:In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5 Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as ...

journal_title：Cytogenetic and genome research

authors： Liu Y,Song M,Luo W,Xia Y,Zeng X

更新日期：2019-01-01 00:00:00

abstract：:KLF13 and FGFR3 have important cellular functions and each is believed to play a role in cancer. KLF13 is a transcription factor required for the expression of several oncogenes. FGFR3 is a fibroblast growth factor receptor that initiates a signaling cascade leading to the activation of numerous cellular pathways. Her...

journal_title：Cytogenetic and genome research

authors： Henson BJ,Gollin SM

更新日期：2010-06-01 00:00:00

abstract：:The Mx gene was originally found in laboratory mice in an infection experiment using influenza virus (Lindermann, 1962). Almost all of the mouse strains in that experiment died from the infection, and only the A2G strain had resistance to the virus. This resistant character was shown to be inherited as a single autoso...

journal_title：Cytogenetic and genome research

authors： Watanabe T

更新日期：2007-01-01 00:00:00

abstract：:This article presents the first physical mapping carried out in the Senegalese sole (Solea senegalensis), an important marine fish species of Southern Europe. Eight probes were designated to pick up genes of interest in aquaculture (candidate genes) from a bacterial artificial chromosome (BAC) library using a method o...

journal_title：Cytogenetic and genome research

authors： García-Cegarra A,Merlo MA,Ponce M,Portela-Bens S,Cross I,Manchado M,Rebordinos L

更新日期：2013-01-01 00:00:00

abstract：:Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (Sumacr;CL iumacr;nterrupting lumacr;ocus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to...

journal_title：Cytogenetic and genome research

authors： Karkera JD,Izraeli S,Roessler E,Dutra A,Kirsch I,Muenke M

更新日期：2002-01-01 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