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11 documents found
1: Title: Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Authors: Khan, Tahir N, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 104 (1): 94-111, 2019 .
Snippet: Consistent with a causal role for NCAPG2, we found abnormal chromosome condensation, augmented anaphase chromatin-bridge formation, and micronuclei in daughter cells of proband skin fibroblasts.
Affiliation: Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA. Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan. Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA; Furman University, Greenville, SC 29613, USA. Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA. Department of Pediatrics, Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA. Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan. Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu. Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA. Electronic address: nicholas.katsanis@duke.edu. .
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2: Title: Genetic Variants Within Key Nodes of the Cascade of Antipsychotic Mechanisms: Effects on Antipsychotic Response and Schizophrenia Psychopathology in a Naturalistic Treatment Setting in Two Independent Korean and Italian Samples.
Authors: Calabrò, Marco, et.al. .
Journal: Advances in therapy (Adv Ther), Vol. 34 (6): 1482-1497, 2017 .
Snippet: In the haplotype analysis, rs9801117 C-rs12668837 C-rs4621754 A haplotype within ESYT2 and NCAPG2 genes was associated with APs response in the same sample.
Affiliation: Department of Biomedical and Dental Sciences and Morphofunctional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy. Department of Biomedical and Neuro Motor Sciences, University of Bologna, Bologna, Italy. Department of Psychiatry, The Catholic University of Korea College of Medicine, Seoul, Republic of Korea. Department of Psychiatry, College of Medicine, Korea University, Seoul, Republic of Korea. Department of Psychiatry and Behavioural Sciences, Duke University Medical Center, Durham, NC, USA. Global Medical Education, New York, NY, USA. Academic Medicine Education Institute, Duke-NUS Medical School, Singapore, Singapore. Department of Neuroscience, IRCCS, Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy. Center for Applied Biomedical Research (CRBA), St. Orsola University Hospital, Bologna, Italy. Department of Psychiatry, The Catholic University of Korea College of Medicine, Seoul, Republic of Korea. pae@catholic.ac.kr. Department of Psychiatry and Behavioural Sciences, Duke University Medical Center, Durham, NC, USA. pae@catholic.ac.kr. .
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3: Title: NCAPG2 promotes tumour proliferation by regulating G2/M phase and associates with poor prognosis in lung adenocarcinoma.
Authors: Zhan, Ping, et.al. .
Journal: Journal of cellular and molecular medicine (J Cell Mol Med), Vol. 21 (4): 665-676, 2017 .
Snippet: Furthermore, we found that NCAPG2 silencing significantly decreased the expression levels of G2/M phase cell cycle-related protein expressions (Cyclin B1, Cdc2) and increased the expression levels of p27 and p21 through Western blot analysis.
Affiliation: Department of Respiratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. Department of Respiratory Medicine, Nanjing Chest Hospital, Medical School of Southeast University, Nanjing, China. Department of Gastroenterology, The Affiliated Drum Tower Hospital of Nanjing University, Medical School, Nanjing, Jiangsu, China. .
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4: Title: Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease.
Authors: Stefano, Porcelli, et.al. .
Journal: Journal of the neurological sciences (J Neurol Sci), Vol. 370, 2016 .
Snippet: METHODS: Our primary aim was to investigate the associations among single nucleotide polymorphisms (SNPs) within neurodevelopment related genes (BDNF, ST8SIA2, C15orf32, NCAPG2, ESYT2, WDR60, LOC154822, VIPR2, GSK3B, NR1I2, ZNF804A, SP4) and AD.
Affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina-, Italy. Department of Psychiatry, University of Athens Medical School, Eginition Hospital, Athens, Greece. IRCCS - Istituto di Ricerche Farmacologiche "Mario Negri", Department of Neuroscience, Milan, Italy. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address: alessandro.serretti@unibo.it. .
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5: Title: Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.
Authors: Mordaunt, Dylan A, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 167 (11): 2697-701, 2015 .
Snippet: The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation.
Affiliation: Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia. Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia. Department of Paediatrics, Lyell McEwin Health Service, Elizabeth Vale, Australia. Centre for Cancer Biology and ACRF South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia. School of Medicine, School of Biological Sciences, University of Adelaide, North Adelaide, Australia. Department of Neurology, Women's and Children's Hospital, North Adelaide, Australia. Robinson Research Institute, University of Adelaide, North Adelaide, Australia. .
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6: Title: Identification of candidate genes for Parkinson's disease through blood transcriptome analysis in LRRK2-G2019S carriers, idiopathic cases, and controls.
Authors: Infante, Jon, et.al. .
Journal: Neurobiology of aging (Neurobiol Aging), Vol. 36 (2): 1105-9, 2015 .
Snippet: We identified 13 common genes (ADARB2, CEACAM6, CNTNAP2, COL19A1, DEF4, DRAXIN, FCER2, HBG1, NCAPG2, PVRL2, SLC2A14, SNCA, and TCL1B) showing significant differential expression between G2019S-associated PD and asymptomatic carriers and also between idiopathic PD and controls but not between untreated and treated patients.
Affiliation: Service of Neurology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria (UC), Santander, Spain; Centro de Investigación en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. Electronic address: jinfante@humv.es. Institute of Biomedicine and Biotechnology of Cantabria, Spanish National Research Council (CSIC), Santander, Spain. Service of Neurology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria (UC), Santander, Spain; Centro de Investigación en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. Service of Neurology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria (UC), Santander, Spain. .
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7: Title: The condensin component NCAPG2 regulates microtubule-kinetochore attachment through recruitment of Polo-like kinase 1 to kinetochores.
Authors: Kim, Jae Hyeong, et.al. .
Journal: Nature communications (Nat Commun), Vol. 5, 2014 .
Snippet: Here we report that NCAPG2, which is a component of the condensin II complex, mediates chromosome segregation through microtubule-kinetochore attachment by recruiting PLK1 to prometaphase kinetochores.
Affiliation: 1] Research Institute, National Cancer Center, Goyang, Gyeonggi 410-769, Republic of Korea [2]. Research Institute, National Cancer Center, Goyang, Gyeonggi 410-769, Republic of Korea. Laboratory of Cell Cycle and Signal Transduction, Department of Nanobiomedical Science and BK21 PLUS Research Center for Regenerative Medicine, Dankook University, Cheonan, Chungnam 330-714, Republic of Korea. Department of Molecular Cell Biology, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Suwon, Gyeonggi 440-746, Republic of Korea. .
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8: Title: A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
Authors: Papoulidis, I, et.al. .
Journal: Gene, Vol. 536 (2): 441-3, 2014 .
Snippet: In particular, the face and the presence of hypotonia and keratoconus were suggestive for the DS although the condition remained unnoticed until his adult age array comparative genomic hybridization (aCGH) revealed a 10.1 Mb duplication in 21q22.13q22.3 and a small deletion of 2.2 Mb on chromosomal band 7q36 arising from a paternal translocation t(7;21).
Affiliation: Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece. Aghia Sophia Children's Hospital, Athens, Greece. Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. Dept. of Molecular Medicine, University of Pavia, Italy. Institute of Human Genetics, Jena, Germany.. Electronic address: i8lith@mti.uni-jena.de. University of Patras, Medical School, Greece. .
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9: Title: Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
Authors: Perche, Olivier, et.al. .
Journal: European journal of medical genetics (Eur J Med Genet), Vol. 56 (11): 635-41, 2013 .
Snippet: MCPH1 and NCAPG2 proteins interaction is known to control chromosome structure and we thus propose that double heterozygosity for null mutations of those two genes of the Condensin II system contribute to mental deficiency with severe microcephaly phenotype.
Affiliation: UMR7355, CNRS, Orleans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orleans, 3b rue de la Férollerie, 45071 Orleans Cedex 2, France; Genetic Department, Regional Hospital, 14 Avenue de l'Hôpital, 45100 Orleans, France. .
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10: Title: PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression.
Authors: Liu, Wen, et.al. .
Journal: Nature, Vol. 466 (7305): 508-12, 2010 .
Snippet: Accordingly, the HEAT repeat clusters in two non-structural maintenance of chromosomes (SMC) condensin II subunits, N-CAPD3 and N-CAPG2 (also known as NCAPD3 and NCAPG2, respectively), are capable of recognizing H4K20me1, and ChIP-Seq analysis demonstrates a significant overlap of condensin II and H4K20me1 sites in mitotic HeLa cells.
Affiliation: Howard Hughes Medical Institute, School of Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093, USA. .
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11: Title: Comprehensive expression profiling of tumor cell lines identifies molecular signatures of melanoma progression.
Authors: Ryu, Byungwoo, et.al. .
Journal: PloS one, Vol. 2 (7): e594, 2007 .
Snippet: Further analysis of expression signatures associated with melanoma progression using functional annotations categorized these transcripts into three classes of genes: 1) Upregulation of activators of cell cycle progression, DNA replication and repair (CDCA2, NCAPH, NCAPG, NCAPG2, PBK, NUSAP1, BIRC5, ESCO2, HELLS, MELK, GINS1, GINS4, RAD54L, TYMS, and DHFR), 2) Loss of genes associated with cellular adhesion and melanocyte differentiation (CDH3, CDH1, c-KIT, PAX3, CITED1/MSG-1, TYR, MELANA, MC1R, and OCA2), 3) Upregulation of genes associated with resistance to apoptosis (BIRC5/survivin).
Affiliation: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America. bryu1@jhmi.edu .
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