Complete cDNA sequence, expression, alternative splicing, and genomic organization of the mouse Nfat5 gene.

abstract：:Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain M...

journal_title：Cytogenetic and genome research

authors： Holmes SE,O'Hearn E,Margolis RL

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：:Studies of complete genomes are leading to a new understanding of the biology of mammals and providing ongoing insights into the fundamental aspects of the organization and evolution of biological systems. Comparison of primate genomes can identify aspects of their organization, regulation and function that appeared d...

journal_title：Cytogenetic and genome research

authors： Ryder OA

更新日期：2005-01-01 00:00:00

abstract：:The lizard genus Gekko consists of over 30 species distributed in Asia and Oceania. From the insular region of East Asia including Japan and Taiwan, 9 species (G. hokouensis, G. japonicus, G. shibatai, G. tawaensis, G. vertebralis,G. yakuensis, and 3 undescribed species) are currently recognized. We made karyological ...

journal_title：Cytogenetic and genome research

authors： Shibaike Y,Takahashi Y,Arikura I,Iiizumi R,Kitakawa S,Sakai M,Imaoka C,Shiro H,Tanaka H,Akakubo N,Nakano M,Watanabe M,Ohne K,Kubota S,Kohno S,Ota H

更新日期：2009-01-01 00:00:00

abstract：:An experimental approach using monoclonal anti-5-methylcytosine (5-MeC) antibodies and indirect immunofluorescence was elaborated for detecting 5-MeC-rich chromosome regions in anuran chromosomes. This technique was applied to mitotic metaphases of 6 neotropical frog species belonging to 6 genera and 4 families. The h...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2016-01-01 00:00:00

abstract：:Scapinin has been found to bind to cytoplasmic actin and is also a putative regulatory subunit of protein phosphatase-1 (PP1). It is found attached to the nuclear matrix-intermediate filament (NM-IF) and is down-regulated by differentiation of tumor cells. We have analyzed the genomic structure and tissue-specific exp...

journal_title：Cytogenetic and genome research

authors： Worch S,Fiedler E,Hansmann I,Schlote D

更新日期：2006-01-01 00:00:00

abstract：:Genome projects allow us to sample copies of a retrotransposon sequence family residing in a host genome. The variation in DNA sequence between these individual copies will reflect the evolutionary process that has spread the sequences through the genome. Here I review quantitatively the expected diversity of elements...

journal_title：Cytogenetic and genome research

authors： Brookfield JF

更新日期：2005-01-01 00:00:00

abstract：:Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency wit...

journal_title：Cytogenetic and genome research

authors： Santoro SL,Hashimoto S,McKinney A,Mihalic Mosher T,Pyatt R,Reshmi SC,Astbury C,Hickey SE

更新日期：2017-01-01 00:00:00

abstract：:We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb 13q33.2q34 deletio...

journal_title：Cytogenetic and genome research

authors： Kaylor J,Alfaro M,Ishwar A,Sailey C,Sawyer J,Zarate YA

更新日期：2014-01-01 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：:The sense of taste is a chemosensory system responsible for basic food appraisal. Humans distinguish between five primary tastes: bitter, sweet, sour, salty and umami. The molecular events in the perception of bitter taste are believed to start with the binding of specific water-soluble molecules to G-protein-coupled ...

journal_title：Cytogenetic and genome research

authors： Conte C,Ebeling M,Marcuz A,Nef P,Andres-Barquin PJ

更新日期：2002-01-01 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：: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：: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：:The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in ho...

journal_title：Cytogenetic and genome research

authors： Hansen M,Knorr C,Hall AJ,Broad TE,Brenig B

更新日期：2007-01-01 00:00:00

abstract：:Physical mapping of 5S rDNA in 2 species of knifefishes, Gymnotuspantanal and G. paraguensis (Gymnotiformes), was performed using fluorescence in situ hybridization with a 5S rDNA probe. The 5S rDNA PCR product from the genomes of both species was also sequenced and aligned to determine non-transcribed spacer sequence...

journal_title：Cytogenetic and genome research

authors： da Silva M,Matoso DA,Vicari MR,de Almeida MC,Margarido VP,Artoni RF

更新日期：2011-01-01 00:00:00

abstract：:Genomic imprinting has a special role in placental biology. Imprinted genes are often strongly expressed in the placenta, and the allelic expression bias due to imprinting is sometimes stronger in this extraembryonic organ than in the embryo and adult. Mutations, epimutations, and uniparental disomies affecting imprin...

journal_title：Cytogenetic and genome research

authors： Tycko B

更新日期：2006-01-01 00:00:00

abstract：:The etiology of primary cutaneous T-cell lymphomas (CTCL) has been poorly understood. CTCL patients show a large variety of non-clonal and clonal chromosome aberrations, but no specific aberration has been found until recently. This review describes cytogenetic and molecular cytogenetic findings and their relevance to...

journal_title：Cytogenetic and genome research

authors： Karenko L,Hahtola S,Ranki A

更新日期：2007-01-01 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

abstract：:Chromosomes in hymenopteran insects cannot currently be analysed in adult individuals. The only available cytogenetic techniques need to be performed in larvae. Here we develop and implement a SCAR (Sequence Characterized Amplified Region) marker, associated with B chromosomes in the bee Partamona helleri, which has p...

journal_title：Cytogenetic and genome research

authors： Tosta VC,Tavares MG,Fernandes-Salomão TM,Barros EG,Campos LA,Camacho JP

更新日期：2007-01-01 00:00:00

abstract：:Huntington's disease (HD) is a genetically dominant neurodegenerative condition caused by an unique mutation in the disease gene huntingtin. Although the Huntington protein (Htt) is ubiquitously expressed, expansion of the polyglutamine tract in Htt leads to the progressive loss of specific neuronal subpopulations in ...

journal_title：Cytogenetic and genome research

authors： Sawa A,Tomoda T,Bae BI

更新日期：2003-01-01 00:00:00

abstract：:18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells rev...

journal_title：Cytogenetic and genome research

authors： Sun H,Wan N,Wang X,Chang L,Cheng D

更新日期：2018-01-01 00:00:00

abstract：:Normal diploid somatic mammalian cell division generates 2 daughter cells as a result of a strict and well-controlled mitotic process. However, some defects during the progression of that process could generate an unbalanced distribution of chromosomes, aneuploidy and eventually, a malignant phenotype. Previous observ...

journal_title：Cytogenetic and genome research

authors： Dutra A,Pak E,Wincovitch S,John K,Poirier MC,Olivero OA

更新日期：2010-01-01 00:00:00

abstract：:A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present the clinical and molecular cytogenetic characteristics. The patient presented with small testes and azoo...

journal_title：Cytogenetic and genome research

authors： Liang J,Zhang Y,Wang R,Liang Z,Yue J,Liu R

更新日期：2015-01-01 00:00:00

abstract：:The epigenome is thought to mediate between genes and the environment, particularly in response to adverse life experiences. Similar to other psychiatric diseases, the suicide liability of an individual appears to be influenced by many genetic factors of small effect size as well as by environmental stressors. To iden...

journal_title：Cytogenetic and genome research

authors： Schneider E,El Hajj N,Müller F,Navarro B,Haaf T

更新日期：2015-01-01 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：: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：: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：:Chloroplasts and mitochondria are semi-autonomous organelles and have their own genomes (cytoplasmic genomes). Physical radiations (e.g., γ-rays) have been widely used in artificial mutation induction for plant germplasm enhancement and for breeding new cultivars. However, little is known at the genomic level about wh...

journal_title：Cytogenetic and genome research

authors： Zheng Y,Li S,Huang J,Fan L,Shu Q

更新日期：2020-01-01 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