The mammalian mid-pachytene checkpoint: meiotic arrest in spermatocytes with a mutation in Atm alone or in combination with a Trp53 (p53) or Cdkn1a (p21/cip1) mutation.

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：: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：:Coamplification of multiple segments of chromosome 2, including an MYCN-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32...

journal_title：Cytogenetic and genome research

authors： Kitada K,Aida S,Aikawa S

更新日期：2012-01-01 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：:Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray an...

journal_title：Cytogenetic and genome research

authors： Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JF

更新日期：2016-01-01 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 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：:Oligonucleotide array comparative genomic hybridization (aCGH) was applied on fifteen gastric cancer (GCA) samples to reveal information of DNA copy number changes at an exon-level resolution. Twelve of the samples represented the intestinal (IGCA) and three the diffuse (DGCA) type of GCA. The samples had previously b...

journal_title：Cytogenetic and genome research

authors： Vauhkonen H,Vauhkonen M,Sipponen P,Knuutila S

更新日期：2007-01-01 00:00:00

abstract：:Rubus yellow net virus (RYNV) infects Rubus spp., causing a severe decline when present in mixed infections with other viruses. RYNV belongs to the family Caulimoviridae, also known as plant pararetroviruses, which can exist as episomal or integrated elements (endogenous). Most of integrated pararetroviruses are nonin...

journal_title：Cytogenetic and genome research

authors： Diaz-Lara A,Mosier NJ,Stevens K,Keller KE,Martin RR

更新日期：2020-01-01 00:00:00

abstract：:Spontaneous meiotic mutations of winter rye Secale cereale L. (2n = 14) were revealed in inbred F2 progenies, which were obtained by self-pollination of F1 hybrids resulting from crosses of individual plants of cultivar Vyatka or weedy rye with plants of self-fertile inbred lines. The mutations cause partial or comple...

journal_title：Cytogenetic and genome research

authors： Sosnikhina SP,Mikhailova EI,Tikholiz OA,Priyatkina SN,Smirnov VG,Dadashev SY,Kolomiets OL,Bogdanov YF

更新日期：2005-01-01 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：:ZOO-FISH mapping shows human chromosomes 1, 9 and 10 share regions of homology with pig chromosome 10 (SSC10). A more refined comparative map of SSC10 has been developed to help identify positional candidate genes for QTL on SSC10 from human genome sequence. Genes from relevant chromosomal regions of the public human ...

journal_title：Cytogenetic and genome research

authors： Aldenhoven J,Chen Y,Backofen B,Moran C

更新日期：2003-01-01 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：:Immunolabeling using site-specific antibodies against phosphorylated histone H3 at serine 10 or serine 28 revealed in plants an almost similar temporal and spatial pattern of both post-translational modification sites at mitosis and meiosis. During the first meiotic division the entire chromosomes are highly H3 phosph...

journal_title：Cytogenetic and genome research

authors： Gernand D,Demidov D,Houben A

更新日期：2003-01-01 00:00:00

abstract：:Mouse distal chromosome 2 was one of the earliest described imprinting regions. Maternal and paternal inheritance of the region is associated with opposite phenotypes affecting growth, development and behaviour. Mis-expression of proteins determined by the imprinted Gnas locus can account for the phenotypes. The impri...

journal_title：Cytogenetic and genome research

authors： Peters J,Holmes R,Monk D,Beechey CV,Moore GE,Williamson CM

更新日期：2006-01-01 00:00:00

abstract：:Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. I...

journal_title：Cytogenetic and genome research

authors： Katsumi M,Ishikawa H,Tanaka Y,Saito K,Kobori Y,Okada H,Saito H,Nakabayashi K,Matsubara Y,Ogata T,Fukami M,Miyado M

更新日期：2014-01-01 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：:Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subje...

journal_title：Cytogenetic and genome research

authors： Baldan F,Gnan C,Franzoni A,Ferino L,Allegri L,Passon N,Damante G

更新日期：2018-01-01 00:00:00

abstract：:Radiation-induced chromosome damage can be measured in interphase using the Premature Chromosome Condensation (PCC) technique. With the introduction of a new PCC technique using the potent phosphatase inhibitor calyculin-A, chromosomes can be condensed within five minutes, and it is now possible to examine the early d...

journal_title：Cytogenetic and genome research

authors： Kawata T,Ito H,Uno T,Saito M,Yamamoto S,Furusawa Y,Durante M,George K,Wu H,Cucinotta FA

更新日期：2004-01-01 00:00:00

abstract：:Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a ...

journal_title：Cytogenetic and genome research

authors： Nakajima T,Kaur G,Mehra N,Kimura A

更新日期：2008-01-01 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：: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：:An important aspect of genome reprogramming is the establishment and maintenance of gamete-specific DNA methylation patterns that distinguish the parental alleles of imprinted genes. Disrupting the accurate transmission of genomic imprints by interfering with these methylation patterns causes severe defects in fetal g...

journal_title：Cytogenetic and genome research

authors： Paoloni-Giacobino A,Chaillet JR

更新日期：2006-01-01 00:00:00

abstract：:The mouse UGRP gene family consists of two genes, Ugrp1 and Ugrp2. In this study, the genomic structure and expression patterns of Ugrp2 and its alternative spliced form were characterized. The authentic Ugrp2 gene has three exons and two introns, similar to the Ugrp1 gene, which produces a secreted protein. The Ugrp2...

journal_title：Cytogenetic and genome research

authors： Niimi T,Copeland NG,Gilbert DJ,Jenkins NA,Srisodsai A,Zimonjic DB,Keck-Waggoner CL,Popescu NC,Kimura S

更新日期：2002-01-01 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：: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：:Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities. Sperm DNA fragmentation is also considered as another cause of infertility. Most of the studies on male infertility h...

journal_title：Cytogenetic and genome research

authors： Perrin A,Basinko A,Douet-Guilbert N,Gueganic N,Le Bris MJ,Amice V,De Braekeleer M,Morel F

更新日期：2011-01-01 00:00:00

abstract：:Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...

journal_title：Cytogenetic and genome research

authors： Pokorná M,Rens W,Rovatsos M,Kratochvíl L

更新日期：2014-01-01 00:00:00

abstract：:Economically important traits such as growth and backfat in pigs have been shown to be influenced by genes in swine chromosome (SSC) 10q12-->qter corresponding to human chromosome (HSA) 10p. However, since gene information in the swine chromosomal region was limited, we attempted to generate a dense comparative map be...

journal_title：Cytogenetic and genome research

authors： Yasue H,Kiuchi S,Hiraiwa H,Ozawa A,Hayashi T

更新日期：2006-01-01 00:00:00

abstract：:The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenit...

journal_title：Cytogenetic and genome research

authors： Novo-Filho GM,Montenegro MM,Zanardo ÉA,Dutra RL,Dias AT,Piazzon FB,Costa TV,Nascimento AM,Honjo RS,Kim CA,Kulikowski LD

更新日期：2016-01-01 00:00:00