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Sacristan Carlos C Molecular Cancer Research, University Medical Center Utrecht, 3584 CG Utrecht, The - - 2014
Error-free chromosome segregation relies on stable connections between kinetochores and spindle microtubules. The spindle assembly checkpoint (SAC) monitors such connections and relays their absence to the cell cycle machinery to delay cell division. The molecular network at kinetochores that is responsible for microtubule binding is integrated with the core components ...
Muñoz-Barrera Marta M Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), 41092 Seville, Spain; Spanish National Research Council, 41092 Seville, Spain; - - 2014
Aurora B kinase regulates the proper biorientation of sister chromatids during mitosis. Lack of Aurora B kinase function results in the inability to correct erroneous kinetochore-microtubule attachments and gives rise to aneuploidy. Interestingly, increased Aurora B activity also leads to problems with chromosome segregation, and overexpression of this kinase has ...
Xu Peng - - 2014
Proper alignment of duplicated chromosomes at the metaphase plate involves both motor-driven chromosome movement, and the functional and physical end-on connection (K-fiber formation) between the kinetochore and the plus-end of microtubules. The B56 family of Protein Phosphatase 2A (PP2A) regulatory subunits, through their interaction with the mitotic checkpoint protein BUBR1, ...
Li Cuiling C The Key Laboratory of Plant Cell Engineering and Germplasm Innovation, Ministry of Education, School of Life Sciences, Shandong University, Jinan, 250100, People's Republic of - - 2014
Fertile hybrids were produced with genetic material transferred from Th. intermedium into a wheat background and supply a source of genetic variation to wheat improvement. Both symmetric and asymmetric somatic hybrids have been obtained from the combination of wheatgrass (Thinopyrum intermedium) and bread wheat (Triticum aestivum). Two wheat protoplast populations, ...
Ran Yuanyuan Y School of Life Science, Beijing Institute of Technology, Beijing 100081, PR - - 2013
The radioprotective effects of Dragon's blood (DB) and its extracts (DBE) were investigated using the chromosomal aberrant test, micronucleus and oxidative stress assay for anti-clastogenic and anti-oxidative activity. Adult BALB/C mice were exposed to the whole body irradiation with 4 Gy (60)Co γ-rays. DB and DBE were administered orally once a ...
Kitamura Yohei - - 2013
Chordomas are invasive tumors that develop from notochordal remnants and frequently occur in the skull base. The T gene and its product (brachyury) have recently been suggested to play an important role in chordoma progression. To date, few studies have investigated the relationship between the molecular/genetic characteristics of chordoma and ...
Schwarz-Finsterle Jutta - - 2013
The exposure of tumour cells to high doses of ionizing radiation can induce endopolyploidization as an escape route from cell death. This strategy generally results in mitotic catastrophe during the first few days after irradiation. However, some cells escape mitotic catastrophe, polyploidize and attempt to undergo genome reduction and de-polyploidization ...
Zhang Xiaojuan X Center for Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, - - 2013
The effect of UV irradiation on replicating cells during interphase has been studied extensively. However, how the mitotic cell responds to UV irradiation is less well defined. Herein, we found that UV-C irradiation (254 nm) increases recruitment of the spindle checkpoint proteins Mps1 and Mad2 to the kinetochore during metaphase, ...
Berardinelli Francesco - - 2013
Telomere integrity is important for chromosome stability. The main objective of our study was to investigate the relationship between telomere length modulation and mitotic chromosome segregation induced by ionizing radiation in human primary fibroblasts. We used X-rays and low-energy protons because of their ability to induce different telomeric responses. Samples ...
Hu Burong - - 2013
A major concern for bystander effects is the probability that normal healthy cells adjacent to the irradiated cells become genomically unstable and undergo further carcinogenesis after therapeutic irradiation or space mission where astronauts are exposed to low dose of heavy ions. Genomic instability is a hallmark of cancer cells. In ...
Fujii Yoshihiro - - 2013
Abstract Purpose: The impact of the damage distribution to cellular survival and chromosomal aberrations following high Linear Energy Transfer (LET) radiation was investigated. Materials and methods: High LET iron-ions (500MeV/n, LET 200keV/μm) were delivered to G1-phase synchronized Chinese Hamster Ovary (CHO) cells located at a vertical or horizontal angle relative ...
Tsuji Hideo - - 2013
Changes in the thymic microenvironment lead to radiation-induced thymic lymphomagenesis, but the phenomena are not fully understood. Here we show that radiation-induced chromosomal instability and bystander effects occur in thymocytes and are involved in lymphomagenesis in C57BL/6 mice that have been irradiated four times with 1.8-Gy γ-rays. Reactive oxygen species ...
Baverstock Keith - - 2013
I would like to take issue with Rithidech et al., authors of the paper entitled "Lack of genomic instability in mice at low doses" [1] who claim to have shown that their results on the measurement of late occurring chromosome aberrations after irradiation of SCID mice with X-rays show that ...
Jurisic Vladimir - - 2012
A 56-year-old male with chronic idiopathic myelofibrosis and cytogenetic finding of 20q- after a period of 10 months developed acute Philadelphia-positive lymphoblastic leukemia. Immunophenotyping of peripheral blood by flow cytometry showed HLA-DR, CD34, CD19, CD22, CD10, CD33, and CD11b positivity. Cytogenetic analysis revealed the presence of 20q- and Philadelphia chromosome ...
Tassano Elisa - - 2012
Abstract The incidence of therapy-related myelodysplastic syndrome (t-MDS) in pediatric age is increasing in parallel with the more successful management of the primary tumor, but scanty information is available on clinical and cytogenetic characteristics. We report here on two children affected by t-MDS after chemo/radiotherapy for a primary solid tumor, ...
Su Pen-Hua - - 2012
We report on a newborn girl with facial anomalies, a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, and persistent hyperplastic primary vitreous. Cytogenetic analysis by high resolution GTG banding showed extra chromosomal material on the short arm of one chromosome 1 of the patient, but neither ...
Ocak Z - - 2012
This is a unique case of intrachromosomal triplication of the X chromosome q arm detected with cytogenetic and spectral karyotyping in a 21-year-old woman with primary amenorrhea, who had been referred because of primary hypergonadotropic hypogonadism and Mullerian hypoplasia. Intrachromosomal triplications are rare rearrangements resulting in partial tetrasomy. Since 1993, ...
González-Yebra Beatriz - - 2012
Association between DNA alterations and clinical parameters as recurrence, survival or prognosis has been found in a variety of tumors. A clear association between Medullary Thyroid Carcinoma (MTC) and RET oncogene mutation has been accepted. Specifically M918T RET mutation represents the main genetic event in most cases of sporadic MTC ...
McCannel Tara A - - 2011
To identify genomic targets for ciliochoroidal melanoma diagnosis, prognosis, and therapy. Fifty-eight ciliochoroidal melanomas were analyzed by high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays. The 58 SNP arrays were compared to 48 HapMap normals representing both sexes and assessed with a systematic statistical method, Genomic Identification of Significant Targets ...
López Fernando - - 2011
Sinonasal squamous cell carcinomas (SCCs) are rare tumors with no etiologic link to tobacco and alcohol, as opposed to other SCCs of the head and neck (HNSCC). Little is known about the genetic changes in sinonasal SCC. DNA copy number changes of sinonasal SCC were analyzed by multiplex ligation-dependent probe ...
Hillman S C - - 2011
Array comparative genomic hybridization (CGH) is transforming clinical cytogenetics with its ability to interrogate the human genome at increasingly high resolution. The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping. MEDLINE (1970 to December 2009), EMBASE (1980 ...
Miwa Tomoru - - 2011
: Reports of genetic analyses on pediatric gliomas are few, and those tumors have been far less characterized than adult gliomas. : To characterize the genetic and biological features of pediatric gliomas. : We investigated 23 pediatric nonependymal, nonpilocytic gliomas for chromosomal copy number aberrations (CNAs) by comparative genomic hybridization ...
Grant Paul - - 2011
This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment with oestrogen replacement therapy and close supportive monitoring.
Hoang Sarah - - 2011
Mosaicism for chromosome imbalance has traditionally been detected by karyotype analysis. The introduction of array CGH into clinical diagnostic laboratories and routine clinical practice has raised concerns as to the ability of this new test to detect the presence of more than one cell line. We present our validation data ...
Micci Francesca - - 2010
Alterations of chromosome 19 are among the most frequent cytogenetic changes in ovarian carcinomas. They usually occur as added extra material of unknown origin to 19p or, less frequently, 19q but sometimes as homogeneously staining regions. The precise nature of these markers, i.e., exactly which regions of chromosome 19 are ...
Manning Melanie - - 2010
Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard ...
Myung Jae Kyung - - 2011
Liposarcoma develops extremely rarely in the oesophagus. Microscopically, it exhibits subtle atypia of H&E-stained features. Accordingly, immunohistochemical features and chromosomal alterations are used for its confirmatory diagnosis. However, cytogenetic analysis has not been performed for oesophageal liposarcoma. We studied chromosomal alterations using array comparative genomic hybridization (CGH), as well as ...
Hayashi Shin - - 2011
Recent advances in the analysis of patients with congenital abnormalities using array-based comparative genome hybridization (aCGH) have uncovered two types of genomic copy-number variants (CNVs); pathogenic CNVs (pCNVs) relevant to congenital disorders and benign CNVs observed also in healthy populations, complicating the screening of disease-associated alterations by aCGH. To apply ...
Gutiérrez-Mateo Cristina - - 2011
To validate and determine the best array-comparative genomic hybridization (aCGH; array-CGH) protocols for preimplantation genetic screening (PGS). Embryos had one cell removed as a biopsy specimen and analyzed by one of two array-CGH protocols. Abnormal embryos were reanalyzed by fluorescence in situ hybridization (FISH). Reference laboratory. Patients donating embryos or ...
Wu Ching-Fang - - 2010
Clinical presentations of end-stage renal disease (ESRD) patients on dialysis with upper urinary tract urothelial carcinoma (UUT-UC) are different from those with normal renal function. The pathogenesis remains unknown. We investigated the pathogenetic influence of chromosomal aberrations in patient on dialysis with UUT-UC. The chromosomal aberrations of UUT-UC specimens from ...
Luan Shi-Lu - - 2010
Primary effusion lymphoma (PEL) is associated with Kaposi sarcoma herpesvirus (KSHV) but its pathogenesis is poorly understood. Many KSHV-associated products can deregulate cellular pathways commonly targeted in cancer. However, KSHV infection alone is insufficient for malignant transformation. PEL also lacks the chromosomal translocations seen in other lymphoma subtypes. We investigated ...
Alvarez Karla - - 2010
Chromosomal imbalances are commonly seen in cancer and inherited genetic diseases. These imbalances may assist in the diagnosis, prognosis, and/or therapeutic management of certain neoplasms. Several methods for detecting chromosomal imbalances, such as, fluorescent in situ hybridization, array comparative genomic hybridization, and single nucleotide polymorphism (SNP) arrays have proven useful ...
O'Driscoll Mary C - - 2010
Agenesis of the corpus callosum (ACC) is a common brain malformation of variable clinical expression that is seen in many syndromes of various etiologies. Although ACC is predominantly genetic, few genes have as yet been identified. We have constructed and analyzed a comprehensive map of ACC loci across the human ...
Baker Richard H - - 2010
Chromosomal location has a significant effect on the evolutionary dynamics of genes involved in sexual dimorphism, impacting both the pattern of sex-specific gene expression and the rate of duplication and protein evolution for these genes. For nearly all non-model organisms, however, knowledge of chromosomal gene content is minimal and difficult ...
Pan Chin-Chen - - 2010
Metanephric adenoma is a rare benign renal tumor typically found in adults. Previous cytogenetic analyses, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization, have yielded conflicting results regarding the somatic genetic aberrations of these tumors. In this study, we investigated the genomic profile of nine cases of ...
Bronner Mary P MP Division of Pathology and Laboratory Medicine, Cleveland Clinic, Cleveland, OH 44195, USA. - - 2010
Approximately 10% of ulcerative colitis patients develop colorectal neoplasia. At present, identification of this subset is markedly limited and necessitates lifelong colonoscopic surveillance for the entire ulcerative colitis population. Better risk markers are needed to focus surveillance onto the patients who are most likely to benefit. Using array-based comparative genomic ...
Rius Mariona - - 2011
The short comparative genomic hybridization (short-CGH) method was used to perform a comprehensive cytogenetic study of isolated blastomeres from advanced maternal age embryos, discarded after fluorescent in situ hybridization (FISH) preimplantation genetic screening (PGS), detecting aneuploidies (38.5% of which corresponded to chromosomes not screened by 9-chromosome FISH), structural aberrations (31.8%), ...
Shao Lina - - 2010
Application of array comparative genomic hybridization (aCGH) has allowed an unprecedented high-resolution analysis of cancer genomes. We developed a custom genome-wide oligonucleotide microarray interrogating 493 genes involved in hematological disorders. We analyzed 55 patients with hematological neoplasms by using this microarray. In 33 patients with apparent normal conventional cytogenetic analysis, ...
Bayani Jane J Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. - - 2011
Many tissue kallikrein (KLK) genes and proteins are candidate diagnostic, prognostic and predictive biomarkers for ovarian cancer (OCa). We previously demonstrated that the KLK locus (19q13.3/4) is subject to copy-number gains and structural rearrangements in a pilot study of cell lines and ovarian cancer primary tissues, shown to overexpress KLK gene family ...
Chen Leilei L Department of Clinical Oncology, The University of Hong Kong, Pokfulam, - - 2010
Hepatocellular carcinoma (HCC) is among the most lethal of human malignancies. During human multistep hepatocarcinogenesis, genomic gain represents an important mechanism in the activation of proto-oncogenes. In many circumstances, activated oncogenes hold clinical implications both as prognostic markers and targets for cancer therapeutics. Gain of chromosome 1q copy is one ...
Kang Ji Un - - 2010
Chromosomal alterations are a major genomic force contributing to the development of lung cancer. We subjected 22 cases of squamous cell carcinoma of the lung (SCC) to whole-genome microarray-CGH (resolution, 1 Mb) to identify critical genetic landmarks that might be important mediators in the formation or progression of SCC. On ...
Hu Yi - - 2010
To explore the association between chromosomal disbalances and chemoresistance/chemosensitivity in non-small cell lung cancer (NSCLC) using comparative genomic hybridization (CGH). Genomic DNA samples were prepared from the tumor tissues in paraffin-embedded sections derived from 88 patients with advanced NSCLC (18 with chemosensitivity and 16 with chemoresistance). The DNAs were first ...
Rooryck Caroline - - 2010
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role ...
Veiga-Castelli L C - - 2010
Endometriosis is a complex and multifactorial disease. Chromosomal imbalance screening in endometriotic tissue can be used to detect hot-spot regions in the search for a possible genetic marker for endometriosis. The objective of the present study was to detect chromosomal imbalances by comparative genomic hybridization (CGH) in ectopic tissue samples ...
Kowalczyk Jerzy R - - 2010
Comparative genomic hybridization (CGH) is a technique that permits detection of chromosomal imbalances. This method allows the detection of gains and losses of genetic material at a resolution lower than 5 Mb. The limitations of conventional cytogenetic studies, such as morphologically insufficient quality of metaphases or the mitotic index, can ...
Weber Stefanie - - 2011
Congenital anomalies of the kidneys and urinary tract (CAKUT) are frequently associated with malformations of other organs. In order to explore the role of DNA microimbalances in syndromal CAKUT, we applied genome-wide array-based comparative genomic hybridization (array-CGH) in 30 children with various CAKUT phenotypes and at least one additional extrarenal ...
Han Sehwan - - 2010
This study was performed to investigate whether the response to neoadjuvant chemotherapy in ductal-type breast cancer could be predicted by different genomic alterations. Array-based comparative genomic hybridization (aCGH) was performed on samples from 15 patients who underwent neoadjuvant chemotherapy with epirubicin plus docetaxel (ED). Frozen tissue bank samples were retrospectively ...
Bukvic N - - 2010
X;Y translocation is a relatively rare event in humans. Analyzed cytogenetically, the majority of these aberrations have breakpoints at Xp22 and Yq11. Females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, while the males may have abnormalities. Aberrations that lead to nullisomy of the deleted region and complete loss ...
Schaefer Inga-Marie - - 2011
Adenocarcinoma of the small intestine arising from heterotopic gastric mucosa is extremely rare. In this report, we present the case of a 68-year-old woman who complained of abdominal pain, weight loss and subileus. Gross examination of resected small bowel revealed multiple flat polypous lesions with cysts in the ileal submucosa, ...
Harper Joyce C - - 2010
BACKGROUND: In preimplantation genetic diagnosis (PGD), polymerase chain reaction has been used to detect monogenic disorders, and in PGD/preimplantation genetic screening (PGS), fluorescence in situ hybridization (FISH) has been used to analyze chromosomes. Ten randomized controlled trials (RCTs) using FISH-based PGS on cleavage-stage embryos and one on blastocyst-stage embryos have ...
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