Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

abstract：:A diploid-like pairing system prevents meiotic irregularities and improves the efficiency of gamete production in allopolyploid species. While the nature of the system is known in some polyploid crops including wheat, little is known about the control of chromosome pairing in polyploid fescues (Festuca spp.). In this ...

journal_title：Cytogenetic and genome research

authors： Kopecký D,Bartos J,Zwierzykowski Z,Dolezel J

更新日期：2009-01-01 00:00:00

abstract：:An interstitial constriction located on the long arm of rye chromosome 5R (5RL) shows neocentromeric activity at meiosis. In some meiocytes this region is strongly stretched orienting with the true centromere to opposite poles at metaphase I, and keeping sister chromatid cohesion at anaphase I. We found previously tha...

journal_title：Cytogenetic and genome research

authors： Cuacos M,González-García M,González-Sánchez M,Puertas MJ,Vega JM

更新日期：2011-01-01 00:00:00

abstract：:Plant meiosis studies have enjoyed a fantastic boom in recent years with the use of Arabidopsis thaliana as a model not only for molecular genetics and genomics but also for cytogenetics. In this article we describe a new protocol for immunolabelling meiotic proteins that allows the detection of a large range of prote...

journal_title：Cytogenetic and genome research

authors： Chelysheva L,Grandont L,Vrielynck N,le Guin S,Mercier R,Grelon M

更新日期：2010-07-01 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：:RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...

journal_title：Cytogenetic and genome research

authors： Svoboda P

更新日期：2004-01-01 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：:We performed a quantitative trait locus (QTL) analysis to map QTLs controlling shank length, body weight, and carcass weight in a resource family of 245 F(2) birds developed from a cross of the large-sized, native, Japanese cockfighting breed, Oh-Shamo (Japanese Large Game), and the White Leghorn breed of chickens. In...

journal_title：Cytogenetic and genome research

authors： Tsudzuki M,Onitsuka S,Akiyama R,Iwamizu M,Goto N,Nishibori M,Takahashi H,Ishikawa A

更新日期：2007-01-01 00:00:00

abstract：:Genome duplication creates redundancy in proteins and their interaction networks, and subsequent smaller-scale gene duplication can further amplify genetic redundancy. Mutations then lead to the loss, maintenance or functional divergence of duplicated genes. Genome duplication occurred many times in African clawed fro...

journal_title：Cytogenetic and genome research

authors： Evans BJ,Kwon T

更新日期：2015-01-01 00:00:00

abstract：:Understanding how increased genome size and diversity within polyploid genomes impacts plant evolution and breeding continues to be challenging. Although historical studies by McClintock suggested the importance of transposable elements mediated by polyploidisation on genomic changes, data from plant crosses remain sc...

journal_title：Cytogenetic and genome research

authors： Bento M,Tomás D,Viegas W,Silva M

更新日期：2013-01-01 00:00:00

abstract：:Cytogenetic investigations performed in eight Portuguese cattle breeds revealed the presence of rob(1;29) in both heterozygous and homozygous conditions in all, and five breeds, respectively, with variable percentages of carriers as follows: 41.0% in Arouquesa, 69.9% in Barrosa, 39.4% in Maronesa, 2.8% in Mirandesa, 8...

journal_title：Cytogenetic and genome research

authors： Iannuzzi A,Di Meo GP,Caputi Jambrenghi A,Vonghia G,Iannuzzi L,Rangel-Figueiredo T

更新日期：2008-01-01 00:00:00

abstract：:The mitotic chromosomes of 4 anuran species were examined by various classical banding techniques and by fluorescence in situ hybridization using a (TTAGGG)n repeat. Large intrachromosomal telomeric sequences (ITSs) were demonstrated in differing numbers and chromosome locations. A detailed comparison of the present r...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2016-01-01 00:00:00

abstract：:PCR protocols incorporating fluorescently labeled multiplexed primer combinations were developed to produce a linkage map for bison. Three hundred fifty eight microsatellite loci spanning all 29 autosomes were genotyped via 83 PCR multiplexes and nine individual amplifications. A total of 292 markers were integrated i...

journal_title：Cytogenetic and genome research

authors： Schnabel RD,Taylor JF,Derr JN

更新日期：2003-01-01 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：:It is widely accepted that unrepaired or misrepaired DNA double strand breaks (DSBs) lead to the formation of chromosome aberrations. DSBs induced in the DNA of higher eukaryotes by endogenous processes or exogenous agents can in principle be repaired either by non-homologous endjoining (NHEJ), or homology directed re...

journal_title：Cytogenetic and genome research

authors： Iliakis G,Wang H,Perrault AR,Boecker W,Rosidi B,Windhofer F,Wu W,Guan J,Terzoudi G,Pantelias G

更新日期：2004-01-01 00:00:00

abstract：:Hordeum chilense Roem. et Schult. has a number of characteristics interesting for breeding: high crossability with other Triticeae, resistance to biotic and abiotic stresses and high variability for quality traits such as endosperm storage proteins or carotenoid content. xTritordeum, the amphiploids between H. chilens...

journal_title：Cytogenetic and genome research

authors： Martín A,Cabrera A

更新日期：2005-01-01 00:00:00

abstract：:Spectral karyotyping (SKY) was used to assess the chromosomal constitution of embryos generated by nuclear transfer (NT) of neuronal nuclei (N-NT) or cumulus cell nuclei (C-NT) into oocytes and of their embryonic stem cell derivatives (ntES cells). We detected chromosomal changes during the first mitotic cleavage and ...

journal_title：Cytogenetic and genome research

authors： Osada T,Kakazu N,Watanabe M,Yamane H,Yagi T

更新日期：2009-01-01 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：: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：:The ability to prepare single-stranded chromosomal target DNA allows innovative uses of FISH technology for studies of chromosome organization. Standard FISH methodologies require functionally single-stranded DNAs in order to facilitate hybridization between the probe and the complementary chromosomal target sequence....

journal_title：Cytogenetic and genome research

authors： Bailey SM,Goodwin EH,Cornforth MN

更新日期：2004-01-01 00:00:00

abstract：:Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication...

journal_title：Cytogenetic and genome research

authors： Mayo S,Monfort S,Roselló M,Orellana C,Oltra S,Armstrong J,Català V,Martínez F

更新日期：2011-01-01 00:00:00

abstract：:Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have ...

journal_title：Cytogenetic and genome research

authors： Fogu G,Campus PM,Cambosu F,Moro MA,Sanna R,Fozza C,Nieddu RM,Longinotti M,Montella A

更新日期：2012-01-01 00:00:00

abstract：:Human papillomaviruses (HPV) are responsible for the development of almost all cervical cancers. HPV is also found in 85% of anal cancer and in 50% of penile, vulvar, and vaginal cancers, and they are increasingly found in a subset of head and neck cancers, i.e., oropharyngeal squamous cell carcinomas (OPSCC). The mod...

journal_title：Cytogenetic and genome research

authors： Gao G,Smith DI

更新日期：2016-01-01 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：: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 have identified LIM-kinase (LIMK1 and LIMK2), the only known catalytic protein among LIM-family molecules. Both LIMK1 and LIMK2 phosphorylate (inactivate) cofilin, an actin depolymerizing factor, and induce actin cytoskeleton reorganization. We as well as others concurrently demonstrated that LIMK activation was re...

journal_title：Cytogenetic and genome research

authors： Takahashi H,Funakoshi H,Nakamura T

更新日期：2003-01-01 00:00:00

abstract：:Birds have a ubiquitous, female heterogametic, ZW sex chromosome system. The current model suggests that the Z chromosome and its degraded partner, the W chromosome, evolved from an ancestral pair of autosomes independently from the mammalian XY male heteromorphic sex chromosomes--which are similar in size, but not ge...

journal_title：Cytogenetic and genome research

authors： Stiglec R,Ezaz T,Graves JA

更新日期：2007-01-01 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：:This paper reports on the chromosomal location of 18S rRNA, 5S rRNA and H3 histone multigene families in 4 species of a relatively ancient and diversified group of grasshoppers belonging to the family Proscopiidae. The 5S rRNA and H3 histone genes were highly conserved in the number of sites and chromosomal position i...

journal_title：Cytogenetic and genome research

authors： Cabral-de-Mello DC,Martins C,Souza MJ,Moura RC

更新日期：2011-01-01 00:00:00

abstract：:Gross chromosomal rearrangements and aneuploidy are among the most common somatic genomic abnormalities that occur during cancer initiation and progression, in particular in human solid tumor carcinogenesis. The loss of large chromosomal regions as consequence of gross rearrangements (e.g. deletions, monosomies, unbal...

journal_title：Cytogenetic and genome research

authors： Ludes-Meyers JH,Bednarek AK,Popescu NC,Bedford M,Aldaz CM

更新日期：2003-01-01 00:00:00

abstract：:Pesticides are some of the most frequently released toxic chemicals into the environment. Exposure to them has been associated with reproductive dysfunction, but the knowledge of the genotoxic risks of these substances is still limited. In vitro and in vivo, many pesticides are shown to induce aneuploidy. Analysis of ...

journal_title：Cytogenetic and genome research

authors： Härkönen K

更新日期：2005-01-01 00:00:00